Newborn Screening Programs in Maryland

From WikiGenetics

All Maryland residents are eligible for newborn screening services.

Clinical services are charged on the sliding fee scale with all types of third party payment accepted and no patient is refused service for inability to pay. The Maryland Department of Health and Mental Hygiene’s laboratory charges a nominal fee to analyze newborn screening specimens. (The charge is currently $42 per child and covers as many screening specimens as may be needed.) The Department of Health and Mental Hygiene determines whether specimens are satisfactory and which tests shall be employed.

[edit] Disorders Screened

This program identifies and follows-up on newborn babies with any one of 32 rare and serious disorders of body chemistry. Maryland implemented expanded screening using tandem mass spectrometry in November 2003. Cystic fibrosis will be added in the near future. Testing is performed at either the State Public Health Laboratory or the commercial laboratory Pediatrix.

1. 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2. 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG CoA Lyase Deficiency)
3. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency)
4. 3-Methylglutaconyl-CoA Hydratase Deficiency
5. Argininosuccinic aciduria
6. Argininemia/Citrullinemia
7. Biotinidase deficiency
8. Carnitine/Acylcarnitine Translocase Deficiency
9. Carnitine Palmitoyl Transferase II Deficiency (CPT II Deficiency)
10. Congenital Adrenal Hyperplasia
11. Galactosemia
12. Glutaric Acidemia Type I
13. Homocystinuria
14. Hypothyroidism
15. Isobutyryl-CoA Dehydrogenase Deficiency
16. Isovaleric Acidemia
17. Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
18. Maple Syrup Urine Disease (MSUD)
19. Medium Chain Acyl –CoA Dehydrogenase Deficiency (MCAD)
20. Methylmalonic Acidemia (MMA)
21. Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Deficiency)
22. Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or Glutaric Acidemia II)
23. Multiple Carboxylase Deficiency
24. Phenylketonuria (PKU)
25. Propionic Acidemia (PA or PPA)
26. Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
27. Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD)
28. Sickle Cell Disease
29. Trifunctional Protein Deficiency (TFP Deficiency)
30. Tyrosinemia
31. Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

[edit] Procedures and Follow-Up

Newborn screening is voluntary in Maryland, in that the informed consent of the child’s parent/guardian must be obtained before testing. However, the regulations place the responsibility for the implementation of newborn screening on the institution in which the child is born and require the institution to offer screening to any child born in Maryland. There are about 600 out-of-hospital births yearly and the person legally responsible for filing the birth certificate is responsible for offering testing.

Maryland offers screening for babies twice: initially, after 24 hours of milk feedings and then again at about 2 weeks of age. The initial specimen is usually collected at the hospital just before discharge. Specimens drawn before 24 hours of age are not fully satisfactory. Tests run on such specimens are less sensitive in detecting many of the metabolic disorders. Therefore, if the initial specimen is drawn before the baby is 24 hours old, a repeat specimen is requested before the child is 2 weeks old. A subsequent specimen (the third in these cases) is still recommended at the next pediatric visit. The utility of this later screen, given the earlier repeat, is being evaluated.

Normal results on initial specimens are reported by mail from the laboratory to the hospital. Subsequent specimens are usually submitted by the child’s pediatrician. Normal results on subsequent specimens are reported by mail from the laboratory to the child’s pediatrician. The laboratory includes a copy of the results on any previous specimens submitted on that child. The laboratory also sends a copy of the reports on all subsequent specimens back to the hospital in which the child was born.

Abnormal results are always phoned by the lab to the Office for Genetics and Children with Special Health Care Needs (OGCSHCN), the medical arm of the newborn screening program. OGCSHCN immediately notifies the baby’s physician and arranges referral for definitive diagnostic work-up. A physician (board certified in pediatrics and genetics), a nurse, and a genetic counselor handle the calls. The laboratory also sends the child’s physician and the hospital copies of the abnormal laboratory report by mail.

Genetic counseling and long-term case management are offered to diagnosed cases. The comprehensive care of patients with inherited metabolic disorders is coordinated with medical geneticists at the following Genetics Centers. Additional consultants/referrals services can be found at http://www.fha.state.md.us/genetics/html/referrals.html.

Johns Hopkins Hospital

Center for Medical Genetics

600 N. Wolfe St. Blalock 1008

Baltimore, MD 21287-3914

(410) 955-3071

Children’s National Medical Center

Department of Medical Genetics

111 Michigan Ave. N.W.

Washington, DC 20010-2970

(202) 884-2187

University of Maryland

Division of Human Genetics

100 N. Greene St. Room 414

Baltimore, MD 21201-1595

(410) 328-3335

For more information about services available for diagnosed cases, please see http://www.fha.state.md.us/genetics/html/newprog.html.

For more information on the Maryland Newborn Screening Program, see http://www.fha.state.md.us/genetics/html/nbs_ndx.html.

[edit] Reference

Genetic Alliance. 2007. Understanding Genetics: A Guide for Patients and Healt Care Professionals. http://www.geneticalliance.org/ws_display.asp?filter=pubs.understanding.genetics