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Maternal & Child Health




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Newborn Screening Program

 

The Newborn Screening Program is responsible for assuring that all infants born in New Hampshire are screened at birth for inherited medical disorders.  A few drops of blood are taken from an infant's heel 24-72 hours after birth.   This is in accordance with state legislation (RSA 132:10a).  The goal of this screening is early identification of these conditions so that timely treatment and intervention can take place. Untreated, some of these conditions can cause death and disability. Families may refuse this screening if they wish.

 

The Newborn Screening Program is responsible for handling screening results and follow-up of out-of-range results, as needed.  Parents are encouraged to ask their health care provider about the newborn screening results at their baby's two-week office visit.

 

New Hampshire has a Newborn Screening Advisory Committee that makes recommendations to the state program on clinical, educational or operational aspects of the program.  This committee meets at least annually.

 

The screening panel includes screening for the following conditions:

 

  • 3-Hydroxy-3-Methylglutaryl-CoA Lysase Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency
  • Argininosuccinic Aciduria
  • Argininemia
  • Biotinidase
  • Carnitine Uptake Defect
  • Carnitine Palmitoyltransferase II Deficiency
  • Citrullinemia I (ASA Synthetase Def)
  • Cobalamin A, B
  • Congenital Adrenal Hyperplasia (CAH)
  • Congenital Hypothyroidism
  • Congenital Toxoplasmosis
  • Cystic Fibrosis (CF)
  • Galactosemia
  • Glutaric Aciduria Type I
  • Homocystinuria (HCY)
  • Hyperornithinemia
  • Hyperammoninemia
  • Homocitrullinemia Syndrome
  • Isovaleric Acidemia
  • Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
  • Maple Syrup Urine Disease (MSUD)
  • Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
  • Methylmalonic Acidemia
  • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
  • Multiple Acyl-CoA Dehydrogenase Deficiency
  • Multiple Carboxylase Deficiency
  • Phenylketonuria (PKU)
  • Propionic Acidemia
  • Sickle Cell Disease (Hemoglobinopathies – 3 types)
  • Trifunctional Protein Deficiency
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Newborn Baby

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