Take a thorough family history with each patient. If one child in a family has a disorder, there is an increased chance future children from the same parents also will have it. Phenylketonuria (PKU), galactosemia, biotinidase deficiency, sickle cell anemia, congenital adrenal hyperplasia (CAH) or medium-chain acyl-CoA dehydrogenase (MCAD) deficiency follow the autosomal recessive inheritance pattern. If one child is affected, both parents are probably carriers of the genetic mutation leading to that disorder and the chance of the same disorder occurring in a subsequent pregnancy is 1 in 4. The chances remain the same with each pregnancy.
Congenital hypothyroidism has a more complicated etiology and the siblings of those who have this disorder are seldom affected. A significant number of congenital hearing loss cases are due to genetic causes, and the rest are due to environmental factors such as bacterial and viral infections or acoustic trauma.
To assess risks for recurrent disease, genetic counseling should be promoted. To find a local genetic counselor, visit the National Society of Genetic Counselors Web site to search the database of genetic counselors or go to GeneTests to search their clinic directory.
Explain newborn screening to patients at two appropriate times during pregnancy: when discussing prenatal testing and when reminding patients to arrange for pediatric care. When discussing prenatal testing, explain the connection between prenatal genetic tests and newborn screening tests. When discussing the importance of arranging for pediatric care, explain the benefits of newborn screening.
Guide patients appropriately if they receive abnormal test results. Explain that there is a difference between screening and diagnostic testing. If the result of a screening test is abnormal, it may be a false positive result, so diagnostic testing is needed to determine if the baby has a disorder.
Refer patients for genetic counseling when appropriate and necessary. To find a local genetic counselor, contact the National Society of Genetic Counselors Web site to search their database of genetic counselors or go to GeneTests to search their clinic directory.
Get involved in expanding your state’s newborn screening programs. The March of Dimes would like to see all babies in all states screened for 29 disorders for which effective treatment is available. To learn more about what the March of Dimes is doing in your local area to expand newborn screening programs, contact your March of Dimes chapter.
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