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美国新生儿筛查(附29种新生儿筛查疾病的英文全称&缩写)
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发表时间:2012-01-16
更新时间:2012-02-14
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前面简单介绍过新生儿筛查(产前筛查及新生儿疾病筛查http://www.mitbbs.com/pc/pccon_3509_112971.html),近一两年在原来29种新生儿疾病筛查的基础上,不少州开始试行或增加了SCID(重症联合免疫缺陷)――一种可挽救的致命性遗传性疾病的筛查。多数先天性疾病不致死、发病率不高,但SCID如果不及早发现与诊治,婴儿通常在一两岁之内就会夭折,以后有机会再写啊。下面就将各州通用的新生儿筛查的一些资料贴出来与JMs分享一下啊!

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Recommended Newborn Screening Tests: 29 Disorders
http://www.marchofdimes.com/professionals/14332_15455.asp

The March of Dimes would like to see all babies in all states screened for the following 29 disorders, for which effective treatment is available. This recommendation is based on endorsement of a report by the American College of Medical Genetics (ACMG) urging screening for these disorders. The report was commissioned by the U.S. Health Resources and Services Administration.

The 29 disorders can be grouped into five categories:
★ Amino acid metabolism disorders
★ Organic acid metabolism disorders
★ Fatty acid oxidation disorders
★ Hemoglobinopathies
★ Others

Each of the disorders is described below.

The March of Dimes also urges states to provide test results for an additional 25 "reportable" conditions named in the ACMG report. There are reliable tests for these conditions, but not yet documented treatments.

You can find out which tests are routinely done in your state by asking your health care provider or state health department. You can also visit these Web sites:
●National Newborn Screening and Genetics Resource Center
http://genes-r-us.uthscsa.edu/
●Peristats from the March of Dimes
http://www.marchofdimes.com/peristats/

★ Amino Acid Metabolism Disorders

This is a diverse group of disorders, with varying degrees of severity. Some affected individuals lack enzymes that are needed to break down the building blocks of protein called amino acids. Others have deficiencies in enzymes that help the body rid itself of the nitrogen incorporated in amino acid molecules. Toxic levels of amino acids or ammonia can build up in the body causing a variety of signs and symptoms, and even death.

●PKU = Phenylketonuria
Incidence: greater than 1 in 25,000(1)

Affected individuals have an inability to properly process the essential amino acid phenylalanine, which then accumulates and damages the brain. PKU can result in severe mental retardation unless detected soon after birth and treated with a special formula. Affected individuals must be kept on a low-phenylalanine diet at least throughout childhood, adolescence, and for females during pregnancy.

●MSUD = Maple syrup urine disease
Incidence: less than 1 in 100,000(1)

This inborn error of metabolism can be lethal if unrecognized and untreated. There is a wide spectrum of clinical presentations, from mild to severe. Affected babies appear normal at birth but soon begin to have neurological symptoms. The disorder gets its name from the fact that the urine smells like maple syrup. Without dietary treatment, severely affected babies do not survive the first month; even those who do receive treatment may have irreversible mental retardation. Rapid diagnosis and treatment are major factors in survival and outcome. Treatment consists of a special low-protein diet, which will vary depending on severity of symptoms, and sometimes, supplementation with a vitamin, thiamin. The diet must be continued indefinitely with frequent monitoring.

●HCY = Homocystinuria
Incidence: less than 1 in 100,000(1)

Individuals with this disorder lack an enzyme responsible for converting the amino acid homocysteine into cystathionine, which is needed for normal brain development. If undetected and untreated, homocystinuria leads to mental retardation, eye problems, skeletal abnormalities, and stroke. Treatment consists of a special diet, one or more vitamins (B6 or B12), and other supplements (betaine).

●CIT = Citrullinemia
Incidence: less than 1 in 100,000(1)

Build-up in the body of citrulline and ultimately ammonia can begin during the newborn period or later in infancy. Without treatment, seizures, coma, brain damage and death can result. With early diagnosis and treatment, normal development is possible. Treatment includes a low-protein diet, medications to rid the body of amino groups to prevent ammonia build-up, and nutritional supplements.

●ASA = Argininosuccinic acidemia
Incidence: less than 1 in 100,000(1)

Most commonly, symptoms begin in the first few days of life, with build-up of argininosuccinic acid and ultimately ammonia resulting in brain swelling, coma and, sometimes, death. Survivors often suffer permanent neurological damage. Other affected children may develop symptoms later in infancy or childhood. Early diagnosis and treatment can be lifesaving; however, in spite of treatment, affected individuals remain susceptible to episodes of ammonia build-up, and most have some degree of brain damage. Treatment consists of a low-protein diet, avoiding fasting, medications to prevent ammonia build-up, nutritional supplements, and in some cases, liver transplant.

●TYR I = Tyrosinemia type I
Incidence: less than 1 in 100,000(1)

Due to absence of an enzyme, byproducts of the amino acid tyrosine, particularly a very toxic compound called succinylacetone, build up in the liver. Without treatment, symptoms generally begin in the first few weeks or months of life and progress to liver or kidney failure, nerve damage and death. Drug treatment, sometimes along with a low-protein diet, is very effective in preventing liver and kidney damage.

★ Organic Acid Metabolism Disorders

Each disease in this group of inherited disorders results from the loss of activity of an enzyme involved in the break down of amino acids, the building blocks of proteins, and other substances (lipids, sugars, steroids). When any of these chemicals is not properly broken down, toxic acids build up in the body. Without dietary treatment and prevention of acute episodes, these disorders can result in coma and death during the first month of life.

●IVA = Isovaleric acidemia
Incidence: less than 1 in 100,000(1)

This disorder is caused by an inability to process the amino acid leucine. The newborn form of the disorder often results in coma, permanent neurological damage, and death. In other cases, symptoms develop later in infancy and childhood, frequently following an infectious illness. With early diagnosis and treatment, most children have normal development. Treatment includes a low-protein diet and nutritional supplements.

●GA I = Glutaric acidemia type I
Incidence: greater than 1 in 75,000(1)

Babies may develop normally for up to 18 months until something affects a child's health, such as a mild viral illness, which may trigger the onset of symptoms. Without prompt treatment, this can lead to brain damage, seizures, low muscle tone, cerebral-palsy like symptoms and death within the first decade of life. Some affected babies also are born with an enlarged head (macrocephaly). Treatment can vary, but may include dietary protein restriction and supplementation with a nutrient called L-carnitine. With early diagnosis and prompt treatment of illness and fever, brain damage may be prevented.

●HMG = Hydroxymethylglutaric aciduria or HMG-CoA lyase deficiency or 3-OH 3-CH3 glutaric aciduria
Incidence: less than 1 in 100,000(1)

An inability to process the amino acid leucine leads to low blood sugar and accumulation of several organic acids, especially following illness or fasting. Without treatment, the disorder can lead to brain damage, mental retardation, coma and death. Avoiding fasting and following a diet low in protein and fat and high in carbohydrates can lead to normal development.

●MCD = Multiple carboxylase deficiency
Incidence: less than 1 in 100,000(1)

This disorder is caused by a defect of an enzyme required to activate several biotin-dependent enzymes. Without these enzymes, lactic acid and other organic acids build up in the body. Without treatment, brain damage, coma and death can result. Symptoms usually begin between birth and 15 months of age, and may include skin rashes and hair loss. Early diagnosis and treatment with biotin allows normal growth and development.

●MUT = Methylmalonic acidemia due to mutase deficiency
Incidence: greater than 1 in 75,000(1)

A defect in the processing of four essential amino acids and other substances results in illness in the first week of life. Though severity of symptoms varies greatly, death during the first month of life and brain damage in survivors is common. Treatment includes a low-protein diet, vitamin B12 injections, and nutritional supplements. Some children die during the first year of life or develop brain damage despite nutritional intervention.

●Cbl A,B = Methylmalonic acidemia cblA and cblB forms
Incidence: less than 1 in 100,000(1)

This inherited defect of vitamin metabolism can lead to build-up of acids in the blood and result in brain damage, seizures, paralysis, coma and death. Symptoms can begin as early as the first week of life, though a minority of affected individuals remain symptom-free. Treatment with vitamin B12 injections and a low-protein diet often prevents serious problems.

●3MCC = 3-Methylcrotonyl-CoA carboxylase deficiency
Incidence: greater than 1 in 75,000(1)

This defect in processing the amino acid leucine can lead to brain damage, seizures, liver failure and death in infancy or no symptoms at all into adulthood. Symptoms often develop following a childhood illness. Treatment with a low-protein diet and, in some cases, nutritional supplements may be helpful. (An abnormal result by newborn screening could be related to abnormal metabolites in the mother and not the baby. This will be clarified by further diagnostic testing of the infant.)

●PROP = Propionic acidemia
Incidence: greater than 1 in 75,000(1)

This defect in the processing of four essential amino acids leads to illness during the newborn period. Without treatment, brain damage, coma and death can result. Even with treatment, including a low-protein diet and nutritional supplements, some affected children suffer from developmental delays, seizures, abnormal muscle tone, frequent infections and heart problems.

●BKT = Beta-Ketothiolase deficiency
Incidence: less than 1 in 100,000(1)

Periodic episodes of acid build-up, often triggered by some childhood illness, can progress to coma, brain damage and death. These serious consequences are most often seen in infants. With early diagnosis and prompt intravenous treatment to keep blood sugar levels up and blood acid levels down during an illness, children can develop normally. Parents must be alert to early signs of illness. Additional treatments may vary, but can include avoidance of protein-rich diets and long-term treatment with bicarbonate.

★ Fatty Acid Oxidation Disorders

This group of disorders is characterized by inherited defects of enzymes needed to convert fat into energy. When the body runs out of glucose (sugar), it normally breaks down fat to support production of alternate fuels (ketones) in the liver. Because individuals with these disorders have a block in this pathway, their cells suffer an energy crisis when they run out of glucose. This is most likely to occur when an individual is ill or skips meals. Without treatment, the brain and many organs can be affected, sometimes progressing to coma and death.

●MCAD = Medium-chain acyl-CoA dehydrogenase deficiency
Incidence: greater than 1 in 25,000(1)

Seemingly well infants and children can suddenly develop seizures (caused by low blood sugar), liver failure, coma, and death. Identifying affected children before they become ill is vital to preventing a crisis and averting these consequences. Treatment includes avoidance of fasting and nutritional supplements.

●VLCAD = Very long-chain acyl-CoA dehydrogenase deficiency
Incidence: greater than 1 in 75,000(1)

Symptoms can first appear at any age from the newborn period through adulthood, but tend to be most severe in infants. Without treatment, affected infants often develop heart and liver failure and die during the first year of life. Treatment includes a high-carbohydrate/low-fat diet, nutritional supplements, avoidance of fasting and prolonged exercise.

●LCHAD = Long-chain 3-OH acyl-CoA dehydrogenase deficiency
Incidence: greater than 1 in 75,000(1)

Symptoms can begin soon after birth, resulting in heart, lung or liver failure and death. In other cases, symptoms such as low muscle tone, developmental delay, heart, lung or liver failure may develop later in infancy or childhood, most likely following an illness. Early diagnosis and treatment effectively prevent life-threatening events, though some children may still develop symptoms. Treatment includes a high-carbohydrate/low-fat diet, nutritional supplements, and avoidance of fasting. Women who are pregnant with fetuses with LCHAD are at increased risk of developing acute fatty liver of pregnancy and other pregnancy complications.

●TFP = Trifunctional protein deficiency
Incidence: less than 1 in 100,000(1)

A seemingly healthy infant can die suddenly of what appears to be sudden infant death syndrome. Other infants may develop low muscle tone, seizures, heart failure and coma, often following an illness. Treatment is based on strict avoidance of fasting, a low-fat diet and nutritional supplements.

●CUD = Carnitine uptake defect
Incidence: less than 1 in 100,000(1)

Due to a missing transporter, cells cannot bring in carnitine from the blood. Carnitine is needed for the transfer of fatty acids across the membranes of the mitochondria (cellular organelles that produce energy for the cell). Symptoms include episodes of hypoglycemia (low blood sugar) and sudden unexpected death in infancy. Older children may present with progressive heart failure. Early diagnosis and treatment with carnitine permits normal development.

★ Hemoglobinopathies

These inherited diseases of red blood cells result in varying degrees of anemia (shortage of red blood cells), serious infections, pain episodes, and damage to vital organs. The symptoms are caused by abnormal kinds and/or amounts of hemoglobin, the main protein inside red blood cells that carries oxygen from the lungs and takes it to every part of the body. In the sickling disorders, an abnormal hemoglobin called HbS can cause some red blood cells to become stiff and abnormally shaped. The stiffer red blood cells can get stuck in tiny blood vessels, causing pain and sometimes organ damage. The severity of these disorders varies greatly from one person to the next.

●Hb SS = Sickle cell anemia
Incidence: greater than 1 in 5,000(1); higher incidence among African-Americans (1 in 400)(2)

A blood disease that can cause severe pain, damage to the vital organs, stroke, and sometimes death in childhood. Young children with sickle cell anemia are especially prone to dangerous bacterial infections such as pneumonia and meningitis. Vigilant medical care and treatment with penicillin, beginning in infancy, can dramatically reduce the risk of these adverse effects and the deaths that can result from them. Affected babies should receive all regular childhood vaccinations (including hemophilus influenza B and pneumococcal vaccines) to help prevent serious bacterial infections. Additional treatments may vary according to severity of symptoms, but may include intermittent pain medications and regular blood transfusions.

●Hb S/Th = Hb S/Beta-Thalassemia
Incidence: greater than 1 in 50,000(1)

In this form of sickle cell anemia, the child inherits one sickle cell gene and one gene for beta thalassemia, another inherited anemia. Symptoms are often milder than for Hb SS, though severity varies among affected children. Routine treatment with penicillin may not be recommended for all affected children.(3)

●Hb S/C = Hb S/C disease
Incidence: greater than 1 in 25,000(1)

Another form of sickle cell disease, in which the child inherits one sickle cell gene and one gene for another abnormal type of hemoglobin called HbC. As with Hb S/Th, this form is often milder the Hb SS and routine penicillin treatment may not be recommended.(3)

★ Others

This mixed group of disorders includes some diseases that are inherited and others that are not genetic. This group of disorders varies greatly in severity, from mild to life-threatening.

●CH = Congenital hypothyroidism
Incidence: greater than 1 in 5,000(1)

This thyroid hormone deficiency severely retards both growth and brain development. If detected soon after birth, the condition can be treated simply with oral doses of thyroid hormone to permit normal development.

●BIOT = Biotinidase deficiency
Incidence: greater than 1 in 75,000(1)

Biotinidase is the enzyme that recycles the vitamin biotin. An inherited deficiency of this enzyme may cause serious complications, including frequent infections, uncoordinated movement, hearing loss, seizures, and mental retardation. Undiagnosed and untreated, the deficiency can lead to coma and death. If the condition is detected soon after birth, these problems can be completely prevented with daily oral doses of biotin.

●CAH = Congenital adrenal hyperplasia
Incidence: greater than 1 in 25,000(1)

CAH refers to a set of inherited disorders resulting from defects in the synthesis of hormones produced by the adrenal gland. In female infants, CAH sometimes results in masculinization of the genitals. Certain severe forms of CAH cause life-threatening salt loss from the body if undetected and untreated. Treatment includes salt replacement and hormone replacement.

●GALT = Classical galactosemia
Incidence: greater than 1 in 50,000(1)

Affected babies are missing the liver enzyme needed to convert galactose, a major sugar from the breakdown of lactose in milk, into glucose, another simple sugar that the body can use. Galactose then accumulates in and damages vital organs, leading to blindness, severe mental retardation, infection, and death. Milk and other dairy products must be eliminated from the baby's diet for life. Though treatment dramatically improves the outlook for affected infants, there is still some risk of developmental delays.

●HEAR = Hearing loss
Incidence: greater than 1 in 5,000(1); up to 3-4 per 1,000 newborns(4)

Without early testing, most babies with hearing loss are not diagnosed until 2 or 3 years of age. By this time, they often have delayed speech and language development. Early diagnosis allows use of hearing aids by 6 months of age, helping prevent serious speech and language problems.

●CF = Cystic fibrosis
Incidence: greater than 1 in 5,000(1)

Cystic fibrosis is one of the most common inherited disorders in the U.S. Abnormalities in the cystic fibrosis protein result in lung and digestive problems, and death at an average age of 30-35 years. Studies suggest that early diagnosis and treatment improves the growth of babies and children with CF. Treatment varies depending on severity of symptoms, but may include a high-calorie diet supplemented with vitamins and medications to improve digestion, respiratory therapy to help clear mucus from the lungs, and medications to improve breathing and prevent lung infections.

For a full copy of the report upon which the March of Dimes recommendation was based, click here. In 2006, the American Academy of Pediatrics updated its fact sheets on several of the disorders described above (Pediatrics, vol. 118, September 2006, pp. e934-e963).
http://mchb.hrsa.gov/screening/
http://aappolicy.aappublications.org/cgi/reprint/pediatrics;118/3/e934.pdf

References
1. American College of Medical Genetics. Newborn Screening: Toward a Uniform Screening Panel and System. Final Report, March 8, 2005.

2. General Accounting Office. Newborn Screening: Characteristics of State Programs. Washington, DC: General Accounting Office, 2003. Publication GAO-03-449. Data from the National Newborn Screening and Genetics Resource Center.

3. American Academy of Pediatrics Section on Hematology/Oncology Committee on Genetics. Health Supervision for Children with Sickle Cell Disease, Pediatrics, volume 109, number 3, March 2002, pages 526-535.

4. National Center for Hearing Assessment and Management, Utah State University.
http://www.infanthearing.org/index.html

UNIVERSAL NEWBORN HEARING SCREENING FACT SHEET
http://www.infanthearing.org/resources/fact.pdf

Additional References
National Library of Medicine Genetics Home Reference
Northwest Regional Newborn Screening Program, Portland, OR.

April 2006 (updated September 2006)


★美国健康与人类服务部( U.S. Health Resources and Services Administration, HRSA)公布的29种首要筛查的新生儿疾病名单

英文名称           中文名称          缩写
Medium-chain acyl-CoA dehydrogenase deficiency   中链酰基-辅酶A脱氢酶缺乏症   MCAD
Congenital hypothyroidism   先天性甲状腺功能减退症   CH
Phenylketonuria   苯丙酮尿症   PKU
Biotinidase deficiency   生物素酰氨酶缺乏症   BIOT
Sickle cell anemia(Hb SS disease)   镰状细胞血症   Hb SS
Congenital adrenal hyperplasia(21-hydroxylase deficiency)   先天性肾上腺增生症(21-羟化酶缺乏症)   CAH
Isovaleric acidemia   异戊酸血症   IVA
Very long-chain acyl-CoA dehydrogenase deficiency   极长链酰基-辅酶A脱氢酶缺乏症   VLCAD
Maple syrup disease   枫糖浆病   MSUD
Classical galactonsemia   典型半乳糖血症   GALT
Hb S/β-thalassemia   血红蛋白S/β-地中海贫血   Hb S/βTH
Hb S/C disease   血红蛋白S/C病   Hb S/C
long-chian L-3-OH acyl-CoA dehydrogenase deficiency   长链L-3-羟基酰基-辅酶A脱氢酶缺乏症   LCHAD
Glutaric acidemia type I   戊二酸血症I型   GA I
3-OH 3-CH3 glutaric aciduria   3-羟基-3-甲基戊二酸尿症   HMG
Trifunctional protein deficiency   三功能蛋白缺乏症   TFP
Multiple carboxylase deficiency   多发性羧酶缺乏症   MCD
Methylmalonic acidemia(mutase deficiency)   甲基丙二酸尿症(变位酶缺乏症)   MUT
Homocystinuria(due to CBS deficiency)   同型半胱氨酸尿(由于CBS缺乏)   HCY
3-Methylcrotonyl-CoA carboxylase deficiency   3-甲基巴豆酰-辅酶A羧化酶缺乏症   3MCC
Hearing loss   听力缺乏   HEAR
Methylmalonic acidemia(Cb1A, B)  甲基丙二酸尿症(Db1 A, B)  Cb1 A, B
Propionic acidemia   丙酸血症   PROP
Carnitine uptake defect   肉毒碱摄取缺陷   CUD
β-Ketothiolase deficiency   β-酮硫解酶缺乏症   BKT
Citrullinemia   瓜氨酸血症   CIT
Argininosuccinic acidemia   精氨基琥珀酸血症   ASA
Tyrosinemia type I   酪氨酸血症I型   TYR I
Cystic fibrosis   囊肿性纤维化   CF

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Newborn Screening Tests

★ About Newborn Screening

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth.

Many of these are metabolic disorders (often called "inborn errors of metabolism") that interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other disorders that screening can detect include problems with hormones or the blood.

In general, metabolic and other inherited disorders can hinder an infant's normal physical and mental development in a variety of ways. And parents can pass along the gene for a certain disorder without even knowing that they're carriers.

With a simple blood test, doctors often can tell whether newborns have certain conditions that could eventually cause problems. Even though these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.

★ Newborn Screening: Past, Present, and Future

In the early 1960s, scientist Robert Guthrie, PhD, developed a blood test that could determine whether newborns had the metabolic disorder phenylketonuria (苯丙酮酸尿症, PKU). People with PKU lack an enzyme needed to process the amino acid phenylalanine, which is necessary for normal growth in kids and for normal protein use throughout life. However, if too much phenylalanine builds up, it damages the brain tissue and can eventually cause substantial developmental delay.

If kids born with PKU are put on a special diet right away, they can avoid the developmental delay the condition caused in past generations and lead normal lives.

Since the development of the PKU test, researchers have developed additional blood tests that can screen newborns for other disorders that, unless detected and treated early, can cause physical problems, developmental delay, and in some cases, death.

Most states, the District of Columbia, Puerto Rico, and the U.S. Virgin Islands now have their own mandatory newborn screening programs (in some states, such as Wyoming and Maryland, the screening is not mandatory). Because the federal government has set no national standard, screening requirements vary from state to state, as determined by individual state public health departments.

Almost all states now screen for more than 30 disorders. One screening technique, the tandem mass spectrometry (or MS/MS), can screen for more than 20 inherited metabolic disorders with a single drop of blood.

Almost all states offer expanded MS/MS screening on every baby. However, there's some controversy over whether the new technology has been tested adequately. Also, some experts want more evidence that early detection of every disease tested for will actually offer babies long-term benefit. Equally important, parents may not want to know ahead of time that their child will develop a serious condition when there are no medical treatments or dietary changes that can improve the outcome. And some questions about who will pay (states, insurance companies, or parents) for it have yet to be resolved.

The American Academy of Pediatrics (AAP) and the federal government's Health Resources and Services Administration formed a task force of experts to examine these issues and recommend next steps. Their report identified some flaws and inconsistencies in the current state-driven screening system and proposed the following:
●All state screening programs should reflect current technology.
●All states should test for the same disorders.
●Parents should be informed about screening procedures and have the right to refuse screening, as well as the right to keep the results private and confidential.
●Parents should be informed about the benefits and risks associated with newborn screening.

★ How States and Hospitals Decide Which Tests to Offer

Traditionally, state decisions about what to screen for have been based on weighing the costs against the benefits. "Cost" considerations include:
●the risk of false positive results (and the worry they cause)
●the availability of treatments known to help the condition
●financial costs

And states often face conflicting priorities when determining their budgets. For instance, a state may face a choice between expanding newborn screening and ensuring that all expectant mothers get sufficient prenatal care. Of course, this is little comfort to parents whose children have a disorder that could have been found through a screening test but wasn't.

These questions have not yet all been decided, even though most states have acknowledged the recommendations and have expanded screening.

So what can you do? Your best strategy is to stay informed. Discuss this issue with both your obstetrician or health care provider and your future baby's doctor before you give birth. Know what tests are routinely done in your state and in the hospital where you'll deliver (some hospitals go beyond what's required by state law).

If your state isn't offering screening for the expanded panel of disorders, you may want to ask your doctors about supplemental screening, though you'll probably have to pay for additional tests yourself.

If you're concerned about whether your infant was screened for certain conditions, ask your child's doctor for information about which tests were done and whether further tests are recommended.

★ Screening Tests

Newborn screening varies by state and is subject to change, especially given advancements in technology. However, the disorders listed here are the ones typically included in newborn screening programs.

●PKU

When this disorder is detected early, feeding an infant a special formula low in phenylalanine can prevent mental retardation. A low-phenylalanine diet will need to be followed throughout childhood and adolescence and perhaps into adult life. This diet cuts out all high-protein foods, so people with PKU often need to take a special artificial formula as a nutritional substitute. Incidence: 1 in 10,000 to 25,000.

●Congenital Hypothyroidism

This is the disorder most commonly identified by routine screening. Affected babies don't have enough thyroid hormone and so develop retarded growth and brain development. (The thyroid, a gland at the front of the neck, releases chemical substances that control metabolism and growth.)

If the disorder is detected early, a baby can be treated with oral doses of thyroid hormone to permit normal development. Incidence: 1 in 4,000.

●Galactosemia

Babies with galactosemia lack the enzyme that converts galactose (one of two sugars found in lactose) into glucose, a sugar the body is able to use. As a result, milk (including breast milk) and other dairy products must be eliminated from the diet. Otherwise, galactose can build up in the system and damage the body's cells and organs, leading to blindness, severe mental retardation, growth deficiency, and even death.

Incidence: 1 in 60,000 to 80,000. Several less severe forms of galactosemia that may be detected by newborn screening may not require any intervention.

●Sickle Cell Disease

Sickle cell disease is an inherited blood disease in which red blood cells mutate into abnormal "sickle" shapes and can cause episodes of pain, damage to vital organs such as the lungs and kidneys, and even death. Young children with sickle cell disease are especially prone to certain dangerous bacterial infections, such as pneumonia (inflammation of the lungs) and meningitis (inflammation of the brain and spinal cord).

Studies suggest that newborn screening can alert doctors to begin antibiotic treatment before infections occur and to monitor symptoms of possible worsening more closely. The screening test can also detect other disorders affecting hemoglobin (the oxygen-carrying substance in the blood).

Incidence: about 1 in every 500 African-American births and 1 in every 1,000 to 1,400 Hispanic-American births; also occurs with some frequency among people of Mediterranean, Middle Eastern, and South Asian descent.

●Biotinidase Deficiency

Babies with this condition don't have enough biotinidase, an enzyme that recycles biotin (a B vitamin) in the body. The deficiency may cause seizures, poor muscle control, immune system impairment, hearing loss, mental retardation, coma, and even death. If the deficiency is detected in time, however, problems can be prevented by giving the baby extra biotin. Incidence: 1 in 72,000 to 126,000.

●Congenital Adrenal Hyperplasia

This is actually a group of disorders involving a deficiency of certain hormones produced by the adrenal gland. It can affect the development of the genitals and may cause death due to loss of salt from the kidneys. Lifelong treatment through supplementation of the missing hormones manages the condition. Incidence: 1 in 12,000.

●Maple Syrup Urine Disease (MSUD)

Babies with MSUD are missing an enzyme needed to process three amino acids that are essential for the body's normal growth. When not processed properly, these can build up in the body, causing urine to smell like maple syrup or sweet, burnt sugar. These babies usually have little appetite and are extremely irritable.

If not detected and treated early, MSUD can cause mental retardation, physical disability, and even death. A carefully controlled diet that cuts out certain high-protein foods containing those amino acids can prevent this. Like people with PKU, those with MSUD are often given a formula that supplies the necessary nutrients missed in the special diet they must follow. Incidence: 1 in 250,000.

●Tyrosinemia

Babies with this amino acid metabolism disorder have trouble processing the amino acid tyrosine. If it accumulates in the body, it can cause mild retardation, language skill difficulties, liver problems, and even death from liver failure. Treatment requires a special diet and sometimes a liver transplant. Early diagnosis and treatment seem to offset long-term problems, although more information is needed. Incidence: not yet determined. Some babies have a mild self-limited form of tyrosinemia.

●Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that particularly affects the lungs and digestive system and makes kids who have it more vulnerable to repeated lung infections. There is no known cure — treatment involves trying to prevent serious lung infections (sometimes with antibiotics) and providing adequate nutrition. Early detection may help doctors reduce the problems associated with CF, but the real impact of newborn screening has yet to be determined. Incidence: 1 in 2,000 Caucasian babies; less common in African-Americans, Hispanics, and Asians.

●MCAD deficiency (medium chain acyl CoA dehydrogenase deficiency)

Children with this fatty acid metabolism disorder are prone to repeated episodes of low blood sugar (hypoglycemia), which can cause seizures and interfere with normal growth and development. Treatment makes sure kids don't fast (skip meals) and supplies extra nutrition (usually by intravenous nutrients) when they're ill. Early detection and treatment can help affected children live normal lives.

●Toxoplasmosis

Toxoplasmosis is a parasitic infection that can be transmitted through the mother's placenta to an unborn child. The disease-causing organism, which is found in uncooked or undercooked meat, can invade the brain, eye, and muscle, possibly resulting in blindness and mental retardation. The benefit of early detection and treatment is uncertain. Incidence: 1 in 1,000. But only one or two states screen for toxoplasmosis.

These aren't the only disorders that can be detected through newborn screening. Other conditions that are candidates for newborn screening include:
* Duchenne muscular dystrophy, a childhood form of muscular dystrophy that can be detected through a blood test
* HIV
* neuroblastoma, a type of cancer that can be detected with a urine test

●Hearing Screening

Most but not all states require newborns' hearing to be screened before they're discharged from the hospital. If your baby isn't examined then, be sure that he or she does get screened within the first 3 weeks of life.

Kids develop critical speaking and language skills in their first few years. A hearing loss that's caught early can be treated to help prevent interference with that development.

★ Should I Request Additional Tests?

If you answer "yes" to any of these questions, talk to your doctor and perhaps a genetic counselor about additional tests:
●Do you have a family history of an inherited disorder?
●Have you previously given birth to a child who's affected by a disorder?
●Did an infant in your family die because of a suspected metabolic disorder?
●Do you have another reason to believe that your child may be at risk for a certain condition?

★ How Newborn Screening Is Performed

In the first 2 or 3 days of life, your baby's heel will be pricked to obtain a small blood sample for testing. Most states have a state or regional laboratory perform the analyses, although some use a private lab.

It's generally recommended that the sample be taken after the first 24 hours of life. Some tests, such as the one for PKU, may not be as sensitive if they're done too soon after birth. However, because mothers and newborns are often discharged within a day, some babies may be tested within the first 24 hours. If this happens, the AAP recommends that a repeat sample be taken no more than 1 to 2 weeks later. It's especially important that the PKU screening test be run again for accurate results. Some states routinely do two tests on all infants.

★ Getting the Results

Different labs have different procedures for notifying families and pediatricians of the results. Some may send the results to the hospital where your child was born and not directly to your child's doctor, which may mean a delay in getting the results to you.

And although some states have a system that allows doctors to access the results via phone or computer, others may not. Ask your doctor how you'll get the results and when you should expect them.

If a test result comes back abnormal, try not to panic. This does not necessarily mean that your child has the disorder in question. A screening test is not the same as diagnostic test. The initial screening provides only preliminary information that must be followed up with more specific diagnostic testing.

If testing confirms that your child does have a disorder, your child's doctor may refer you to a specialist for further evaluation and treatment. Keep in mind that dietary restrictions and supplements, along with proper medical supervision, can often prevent most of the serious physical and mental problems that were associated with metabolic disorders in the past.

You also may wonder whether the disorder can be passed on to any future children. You'll want to discuss this with your doctor and perhaps a genetic counselor. Also, if you have other children who weren't screened for the disorder, consider having testing done. Again, speak with your doctor.

★ Know Your Options

Because state programs are subject to change, you'll want to find up-to-date information about your state's (and individual hospital's) program. Talk to your doctor or contact your state's department of health for more information.

Reviewed by: Louis E. Bartoshesky, MD, MPH
Date reviewed: June 2009

------------------------------------
Newborn Screening Tests
To view the March of Dimes video "A Parent's Guide to Newborn Screening," click here.
http://www.youtube.com/watch?v=yqQRio1-P6c

Every state and U.S. territory routinely screens newborns for certain genetic, metabolic, hormonal and functional disorders. Most of these birth defects have no immediate visible effects on a baby but, unless detected and treated early, can cause physical problems, mental retardation and, in some cases, death.

Except for hearing screening, all newborn screening tests are done using a few drops of blood from the newborn's heel. Fortunately, most babies are given a clean bill of health when tested. However, in 2004, about 4,000 babies were found to have metabolic disorders and more than 12,000 to have hearing impairment (1, 2). In cases like these, early diagnosis and proper treatment can make the difference between healthy development and lifelong impairment.

★ Which newborn screening tests are most likely to be given to a baby?

This depends on where the baby is born. Currently each state or region operates by law its own newborn screening program. State programs vary widely in the number and types of conditions for which they test. Some states test for as few as 10 disorders, while others test for 50 or more (3).

Parents can find out which tests are routinely done in their state by asking their health care provider or state health department. They also can visit the National Newborn Screening and Genetics Resource Center Web site(http://genes-r-us.uthscsa.edu/). This site also lists commercial and nonprofit laboratories that provide comprehensive newborn screening for parents considering having their baby tested for more disorders than those screened for by their state.

All states and U.S. territories screen newborns for phenylketonuria (PKU), hypothyroidism, galactosemia and sickle cell disease (3). The test for PKU was the nation's first newborn screening test. Developed with the help of the March of Dimes, it has been routinely administered since the 1960s. PKU affects about 1 baby in 25,000 (4). Babies with the disorder cannot process a part of protein called phenylalanine, which is found in nearly all foods. Without treatment, phenylalanine builds up in the blood stream and causes brain damage and mental retardation.

When PKU is detected early, mental retardation can be prevented by feeding the baby a special formula that is low in phenylalanine. This low-phenylalanine diet needs to be followed throughout childhood, adolescence, and generally, for life.

Women of childbearing age with PKU need to remain on the low-phenylalanine special diet before and during pregnancy. This will often prevent mental retardation in their children by avoiding fetal exposure to high maternal phenylalanine levels (5).

Congenital hypothyroidism is one of the most common disorders identified by routine newborn screening. It affects at least 1 baby in 5,000 (4). Congenital hypothyroidism is a thyroid hormone deficiency that retards growth and brain development. If it is detected in time, a baby can be treated with oral doses of thyroid hormone to permit normal development.

Galactosemia, which affects about 1 baby in 50,000, can cause death in infancy, or blindness and mental retardation (4). A baby with galactosemia is unable to convert galactose (a sugar in milk) into glucose, a sugar the body uses as an energy source. The treatment for galactosemia is to eliminate milk and all other dairy products from the baby's diet; this dietary restriction is lifelong (5).

Sickle cell anemia is an inherited blood disease that affects:
●About 1 in 400 African-Amerian babies (5)
●About 1 in 1,114 Hispanic babies in the eastern United States (5)
●At least 1 in 5,000 of all babies in the United States (4)

The disorder can cause anemia, bouts of pain, damage to vital organs and, sometimes, death in childhood. Young children with sickle cell anemia are especially prone to dangerous bacterial infections such as pneumonia and meningitis. Vigilant medical care and early treatment with penicillin, beginning in infancy, can dramatically reduce these serious complications and the deaths that can result from them.

Almost all states screen for congenital adrenal hyperplasia (CAH), biotinidase deficiency (BIO) and hearing loss. CAH is a group of disorders in which there is a deficiency of certain hormones, sometimes affecting genital development. It occurs in about 1 in 25,000 babies (4). In severe cases, CAH also can cause life-threatening salt loss from the body. Lifelong treatment with the missing hormones suppresses this disease.

Biotinidase deficiency , which affects about 1 baby in 75,000, can cause seizures, mental retardation, movement problems, hearing loss and, sometimes, coma and death (4). These symptoms result from an inherited lack of an enzyme that recycles the vitamin biotin. When detected in time, problems can be prevented with vitamin supplementation.

Hearing impairment affects about 2 to 3 in 1,000 newborns (2). Without testing, most babies with hearing impairment are not diagnosed until 2 or 3 years of age (2). By this time, they often have delayed speech and language development. Detection of hearing impairment in the neonatal period allows the baby to be fitted with hearing aids before 6 months of age, helping prevent serious speech and language problems.

★ What other disorders can newborn screening detect?

Recent advances in technology, such as tandem mass spectrometry, now make it possible to screen for about 55 disorders. The March of Dimes would like to see all babies in all states screened for at least 29 specific disorders, for which effective treatment is available. This March of Dimes recommendation is based on endorsement of a report by the American College of Medical Genetics (commissioned by the Health Resources and Services Administration) urging screening for the 29 disorders (4). Almost 90 percent of newborns live in states that screen for 21 or more of these disorders. (In addition to these 29 disorders, the March of Dimes recommends that states report screening results of 25 “secondary target” conditions. Treatment for these additional disorders is generally not yet available.)

Treatment for the 29 disorders is likely to improve the health of children who are affected by them. The disorders are grouped into five categories:

1.Organic acid metabolism disorders: Each disease in this group of inherited disorders results from the loss of activity of an enzyme involved in the breakdown of amino acids, the building blocks of proteins, and other substances (lipids, sugars, steroids). When any of these chemicals is not properly broken down, toxic acids build up in the body. Without treatment, these disorders can result in coma and death during the first month of life. These disorders are:
●IVA (isovaleric acidemia)
●GA I (glutaric acidemia)
●HMG (3-OH 3-CH3 glutaric aciduria)
●MCD (multiple carboxylase deficiency)
●MUT (methylmalonic acidemia due to mutase deficiency)
●Cbl A,B (methylmalonic acidemia)
●3MCC (3-methylcrotonyl-CoA carboxylase deficiency)
●PROP (propionic acidemia)
●BKT (beta-ketothiolase deficiency)

2.Fatty acid oxidation disorders: This group of disorders is characterized by inherited defects of enzymes needed to convert fat into energy. When the body runs out of glucose (sugar), it normally breaks down fat to support production of alternate fuels (ketones) in the liver. Because individuals with these disorders have a block in this pathway, their cells suffer an energy crisis when they run out of glucose. This most often occurs when an individual is ill or skips meals. Without treatment, the brain and many organs can be affected, sometimes progressing to coma and death. These disorders are:

●MCAD (medium-chain acyl-CoA dehydrogenase deficiency)
●VLCAD (very long-chain acyl-CoA dehydrogenase deficiency)
●LCHAD (long-chain L-3-OH acyl-CoA dehydrogenase deficiency)
●TFP (trifunctional protein deficiency)
●CUD (carnitine uptake defect)

3.Amino acid metabolism disorders: This is a diverse group of disorders with varying degrees of severity. Some individuals lack enzymes that are needed to break down the building blocks of protein called amino acids. Others have deficiencies in enzymes that help the body rid itself of the nitrogen incorporated in amino acid molecules. Toxic levels of amino acids or ammonia can build up in the body causing a variety of signs and symptoms, and even death. These disorders are:
●PKU (phenylketonuria)
●MSUD (maple syrup urine disease)
●HCY (homocystinuria due to CBS deficiency)
●CIT (citrullinemia)
●ASA (argininosuccinic acidemia)
●TYR I (tyrosinemia type I)

4.Hemoglobinopathies: These inherited diseases of red blood cells result in varying degrees of anemia (shortage of red blood cells) and other health problems. The severity of these disorders varies greatly from one person to the next. These disorders are:
●Hb SS (sickle cell anemia)
●Hb S/Th (hemoglobin S/beta-thalassemia)
●Hb S/C (hemoglobin S/C disease)

5.Others: This mixed group of disorders includes some diseases that are inherited and others that are not. The disorders vary greatly in severity, from mild to life threatening. These disorders are:
●CH (congenital hypothyroidism)
●BIOT (biotinidase deficiency)
●CAH (congenital adrenal hyperplasia due to 21-hydroxylase deficiency)
●GALT (classical galactosemia)
●HEAR (hearing loss)
●CF (cystic fibrosis)

★ How are screening tests done?

All of these disorders, except for hearing loss, are detected by a blood test. The baby's heel is pricked to obtain a few drops of blood for laboratory analysis. The same blood sample can be used to screen for 55 or more disorders. Usually, the baby's blood specimen is sent to a state public health laboratory for testing, and findings are sent to the health care professional responsible for the infant's care.

Babies are screened for hearing loss with one of two tests that measure how the baby responds to sounds. These tests are done in the newborn hospital nursery, using either a tiny soft earphone or microphone that is placed in the baby's ear. If either of these tests shows abnormal results, the baby needs more extensive hearing testing to see if he does have hearing loss.

★ How soon after birth should screening tests be done?
A blood specimen should be taken from every newborn before hospital release, usually at 24 to 48 hours of life. Some of the tests may not give accurate results if they are done too soon after birth. Because of early hospital discharge, some babies are tested within the first 24 hours of life. In order to avoid missing cases, some states now routinely screen twice: in the newborn nursery and again about two weeks later. Hearing tests are usually performed before the baby is discharged from the hospital. Babies born outside the hospital should have newborn screening tests done before the seventh day of life.

★ What does an abnormal test result mean?

Parents should not be overly alarmed by abnormal test results, as the initial screening tests give only preliminary information that must be immediately followed by more precise testing. Most babies with abnormal newborn screening test results prove normal in further testing (6, 7).

★ What should a parent do if his child is diagnosed with one of the conditions?

The child may need follow-up treatment at a pediatric center that specializes in children with metabolic or genetic conditions. It is essential for the child's healthy development that parents follow the health care provider's treatment recommendations. As the child grows, he or she may need careful, continued evaluations and monitoring.

★ If one child has a disorder, will other children in the same family have it?

For most of the disorders detected by newborn screening, when one child in a family is affected, the chance of the same birth defect occurring in a sibling is 1 in 4. The chances remain the same with each pregnancy. Parents who have a baby with one of these disorders can discuss their risk of having another affected child with their health care provider or a genetic counselor. These disorders are inherited when both parents have the same abnormal gene and pass it on to their baby. A parent who has the abnormal gene, but not the disease, is called a carrier. The health of a carrier is rarely affected.

Congenital hypothyroidism usually is not inherited from parents (5). The siblings of those who have this disorder are seldom affected.

Hearing loss can be passed on through parents' genes. However, other causes of hearing loss, such as infections that are passed on to the baby during pregnancy or birth, are unlikely to recur in another pregnancy.

★ Does the March of Dimes fund research and other programs on newborn screening?

The March of Dimes has long supported research, professional and consumer education, and advocacy related to newborn screening. In the 1960s, a March of Dimes grantee developed the first PKU screening test. Other grantees developed screening tests for biotinidase deficiency and congenital adrenal hyperplasia and contributed to the development of testing for hypothyroidism. The March of Dimes also funds research aimed at improving the treatment of children with a number of the screened disorders.

For many years, the March of Dimes has worked to expand and improve newborn screening programs through its advocacy efforts. For example, the March of Dimes was instrumental in the passage of of the 2008 Newborn Screening Saves Lives Act. The law lays the groundwork to establish national guidelines that will specify the conditions for which testing should be done and authorizes funding for states to strengthen their existing programs.

References

1. Overview of the NBS Programs: States of the States. Briefing Presented at the First Meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, June 7-8, 2004, Washington, D.C.
2. Centers for Disease Control and Prevention (CDC). Early Hearing Detection and Intervention Program. July 3, 2008.
3. National Newborn Screening and Genetics Resource Center. U.S. National Screening Status Report. Updated 3/4/08.
4. American College of Medical Genetics. Newborn Screening: Toward a Uniform Screening Panel and System. Final Report, March 8, 2005.
5. American Academy of Pediatrics Committee on Genetics, Newborn Screening Fact Sheets. Pediatrics, volume 118, number 3, September 2006.
6. American Academy of Pediatrics Newborn Screening Authoring Committee. Newborn Screening Expands: Reommendations from Pediatricians and Medical Homes, Implications for the System. Pediatrics, volume 121, number 1, January 2008, pages 192-217.
7. McCabe, L.L. and McCabe, E.R.B. Expanded Newborn Screening: Implications for Genomic Medicine. Annual Review of Medicine, 2008, volume 59, pages 163-175.

August 2008

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Newborn Screening Tests

★ What you need to know:
All states screen newborns for certain metabolic birth defects. (Metabolic refers to chemical changes that take place within living cells.) These conditions cannot be seen in the newborn, but can cause physical problems, mental retardation and, in some cases, death.

Fortunately, most babies receive a clean bill of health when tested. When test results show that the baby has a birth defect, early diagnosis and treatment can make the difference between lifelong disabilities and healthy development.

Many of the tests use a blood specimen taken before the baby leaves the hospital. The baby’s heel is pricked to obtain a few drops of blood for laboratory analysis.

Tests for hearing loss use either a tiny, soft earphone or microphone that is placed in the baby’s ear.

The March of Dimes recommends that all newborns be screened for at least 29 disorders including hearing loss.

★ What you can do:
Find out which tests are routinely done in your state by asking your health care provider or state health department. You can also visit the Web site of the National Newborn Screening and Genetics Resource Center.

Do not be overly alarmed if test results come back abnormal. The initial screening tests give only preliminary information that must be followed up by more precise testing.

●Testing the Newborn for Metabolic Birth Defects
For a free brochure on newborn screening click here.
http://www.marchofdimes.com/pnhec/newbornscreeningbrochure.asp

Metabolic birth defects can cause physical problems, mental retardation and, in some cases, death. It is best for the baby and the family if these conditions are detected and treated early.

All states screen newborns for certain metabolic birth defects. (Metabolic refers to chemical changes that take place within living cells.) These conditions cannot be seen in the newborn, but can cause physical problems, mental retardation and, in some cases, death.

★ What Do the Tests Look for?
Here is a description of some of the conditions and the available treatments.
●PKU (phenylketonuria)
Babies with this disorder cannot process a substance called phenylalanine that is found in almost all food. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. When PKU is detected early, mental retardation can be prevented by feeding the child a special diet. All states and U.S. territories screen for PKU.

●Hypothyroidism
Babies with this disorder have a hormone deficiency that slows growth and brain development. If it is detected in time, a baby can be treated with oral doses of the hormone to permit normal development. All states and U.S. territories screen for hypothroidism.

●Galactosemia
Babies with this disorder cannot convert galactose, a sugar present in milk, into glucose, a sugar that the body uses as an energy source. Galactosemia can cause death in infancy, or blindness and mental retardation. The treatment for the condition is to eliminate milk and all other dairy products from the baby's diet.

●Sickle Cell Anemia
This inherited blood disease causes bouts of pain; damage to vital organs such as the lungs, kidneys and brain; and, sometimes serious infections and death in childhood. Early treatment can prevent some of the complications of sickle cell anemia.

●Congenital adrenal hyperplasia (CAH)
Babies who have this group of disorders are deficient in certain hormones. CAH affects genital development and, in severe cases, can disturb kidney function and cause death. Lifelong treatment with the missing hormones suppresses the disease.

●Hearing loss
Early detection of hearing loss allows the baby to be fitted with hearing aids before 6 months of age. This early intervention helps prevent serious speech and language problems. The National Center for Hearing Assessment and Management has produced a 6-minute educational video for parents "Giving Your Baby a Sound Beginning," which is available in English and Spanish. The video may be viewed online at no charge, or a VHS copy may be purchased for $15.
http://www.infanthearing.org/videos/index.html

The March of Dimes recommends that all newborns be screened for 29 disorders including hearing loss.

★ How Are the Tests Done?
Most of the tests use a blood specimen taken before the baby leaves the hospital. The baby's heel is pricked to obtain a few drops of blood for laboratory analysis. The same blood sample can be used to screen for a number of disorders.

Usually, the baby's blood sample is sent to a state public health laboratory for testing. The health care provider responsible for the infant's care receives the results.

Hearing loss tests measure how a baby responds to sounds. The tests use either a tiny, soft earphone or microphone that is placed in the baby's ear. If these tests show abnormal results, the baby may need more extensive testing to see if he or she has hearing loss.

★ What Should I Do if My Baby Is Diagnosed With One of the Conditions?
Your baby may need treatment at a specialized pediatric center. It is essential for your child's healthy development to follow the recommendations of his or her doctor.

For More Information
Find out which tests are routinely done in your state by asking your health care provider or state health department. You can also visit the Web site of the National Newborn Screening and Genetics Resource Center (NNSGRC).
http://genes-r-us.uthscsa.edu/

NNSGRC provides information on organizations that offer supplemental testing beyond what is required by states. The March of Dimes provides this link for information only and does not imply endorsement of any particular company.
http://genes-r-us.uthscsa.edu/resources/newborn/commercial.htm

March 2008

Simple Test Could Save Your Baby's Life: A Parent's Guide to Newborn Screening(Save Babies Through Screening Foundation)
http://www.savebabies.org/library/HandoutAParentsGuidetoNBS.pdf

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