Prenatal genetic screening and diagnosis for pediatricians

Prenatal genetic screening and diagnostic testing can identify many disorders that will require specialized newborn care and follow-up. Pediatricians should be aware of recent advances in testing that may have implications for their patients and families.

Over the last half decade, there have been important changes in the breadth and depth of prenatal screening and diagnostic procedures. Carrier screening for selected genetic disorders is now offered routinely to pregnant women or those contemplating pregnancy. Newly developed strategies for first-trimester screening for fetal chromosome abnormalities have improved the detection rate for these disorders, while maintaining a low screen-positive rate. The American College of Obstetricians and Gynecologists and the American College of Medical Genetics now recommend that invasive prenatal diagnostic testing be made available to all pregnant women, regardless of age or prenatal screening results. And prenatal ultrasound findings of unknown clinical significance require that pediatricians provide appropriate follow-up in the newborn period and beyond.

Prenatal genetic screening and diagnostic tests are changing rapidly, and results of these tests may impact the postnatal evaluation and treatment strategies for pediatric care.