Newborn Screening Program

Resources and information about the NH Newborn Screening Program, which ensures all infants born in New Hampshire are screened at birth for inherited disorders.

The Newborn Screening Program is responsible for assuring that all infants born in New Hampshire are screened at birth for inherited disorders. A few drops of blood are taken from an infant's heel 24-48 hours after birth. This is in accordance with state legislation (RSA 132:10a). Families may refuse this screening if they wish.

The goal of this screening is early identification of these conditions so that timely treatment and intervention can take place. If disorders are untreated, some of these conditions can cause death and disability. The Newborn Screening Program is responsible for handling screening results and follow-up of out-of-range results. Parents are encouraged to ask their health care provider about the newborn screening results at their baby's two-week office visit. 

 

Newborn Screening Advisory Committee (NBSAC)

New Hampshire has a Newborn Screening Advisory Committee (NBSAC) that makes recommendations to the state program on clinical, educational or operational aspects of the program. The NBSAC in a non-pandemic time would meet on a bi-annual basis, also in accordance with RSA 132:10-a and Administrative Rule He-P 3008. Newborn Screening Advisory Committee Meetings are to resume on a bi-annual basis, and will be held twice yearly, in May and October.  

Past Meeting Minutes

Statues, Regulations, and Legislative Mandates

RSA 132:10-a Entails that all infants born in New Hampshire be screened at birth for a panel of 37 disorders as determined by the State (through a complex decision making process also defined in statute). This statute includes a clause, 132:10-c, which allows parents or guardians to decline this screening if they so desire. 

RSA 132:10-a Also includes a requirement that DHHS make an annual report to the New Hampshire Health and Human Services Oversight Committee on the previous year’s NBSP activities. Previous years’ reports are available below in the Newborn Screening Annual Reporting section.

The Newborn Screening Program has amended the administrative rules He-P 3008 Newborn Dried Blood Spot Screening, Critical Congenital Heart Disease Screening and Newborn Hearing. The purpose of these rules are to describe the requirements for the screening of all newborns pursuant to RSA 132:10-a, RSA 132:10-aa, and for newborn hearing screening pursuant to RSA 132:10-b, V. The changes impact the recommended guidelines for dried blood spot collection procedures, the statement of dissent for refusal of newborn screening and the collection of follow up information. Learn more from the Newborn Screening Specimen Guidelines.

 

Critical Congenital Heart Defects (CCHD)

Babies born with a Critical Congenital Heart Defect (CCHD) are at significant risk for disability or death if not diagnosed soon after birth. Law in New Hampshire requires CCHD screening by birth hospitals, midwives and birth attendants. Per RSA 132:10aa and RSA 141 J and Administrative rules, He-P 3008 and He-P 3012 it is now required that birth facilities report CCHD, hearing screening results, and birth conditions known at birth to the Maternal and Child Health Section. 

 

Newborn Screening Annual Reporting 

The Newborn Screening Annual Report is an annual reporting requirement for Newborn Screening Program and is used for the purposes of monitoring and reporting program performance. The annual report includes newborn screening data that is presented to the NH legislature, per RSA 132:10-a which includes a requirement that DHHS make an annual report to the New Hampshire Health and Human Services Oversight Committee on the previous year’s NBSP activities. See below for past legislative reports.

Screening Panel 

In recent years there have been several disorders added to our screening panel.  The New Hampshire Newborn Screening Program added the screening for Spinal Muscular Atrophy (SMA) to the NH screening panel in 2019 and three additional disorders were added to the panel the following year in 2020, including screening for Mucopolysaccharidosis (MPS1), X-Linked Adrenoleukodystrophy (X-ALD) and Pompe Disease. 

NH Newborn Screening Panel includes screening for the following conditions:

  1. Argininemia (ARG)
  2. Argininosuccinic Acidemia (ASA)
  3. Biotinidase Deficiency (BIOT)
  4. Carnitine Uptake Defect (CUD)
  5. Carnitine Palmitoyltransferase II Deficiency (CPT II)
  6. Citrullinemia (CIT)
  7. Cobalamin A, B (Cbl A, B)
  8. Congenital Adrenal Hyperplasia (CAH)
  9. Congenital Hypothyroidism (CH)
  10. Congenital Toxoplasmosis (TOXO)
  11. Critical Congenital Heart Disorder (CCHD)
  12. Cystic Fibrosis (CF)
  13. Galactosemia (GALT)
  14. Glutaric Acidemia Type I (GAI)
  15. Hemoglobinopathies (Hb S/βTh), (Hb S/C), (Hb SS)
  16. 3-hydroxy-3-methyl gluteric aciduria (HMG)
  17. Hyperornithinemia Hyperammoninemia, Homocitrullinemia Syndrome (HHH)
  18. Homocystinuria (HCY)
  19. Isovaleric Acidemia (IVA)
  20. Long-chain L-3-OH Acyl-CoA Dehydrogenase Deficiency (LCHAD)
  21. Maple Syrup Urine Disease (MSUD)
  22. Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
  23. 3-Methylcrotonyl-CoA Carboxylase Deficiency(3MCC)
  24. Methylmalonic Acidemia: Mutase Deficiency (MUT)
  25. Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)
  26. Mucopolysaccharidosis Type 1 (MPS1)
  27. Multiple Acyl-CoA Dehydrogenase Deficiency (GA2)
  28. Multiple Carboxylase Deficiency (MCD)
  29. Pompe Disease (POMPE)
  30. Propionic Acidemia (PROP)
  31. Phenylketonuria (PKU)
  32. Severe Combined Immunodeficiency (SCID)
  33. Spinal Muscular Atrophy (SMA)
  34. Trifunctional Protein Deficiency (TFP)
  35. Tyrosinemia Type 1 (TYR 1)
  36. Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
  37. X-Linked Adrenoleukodystrophy (X-ALD)

 

Resources for Parents and Healthcare Providers