Published online September 1, 2004
PEDIATRICS Vol. 114 No. 3 September 2004, pp. 889-894 (doi:10.1542/peds.2004-1368)
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CLINICAL REPORT

Prenatal Screening and Diagnosis for Pediatricians

Christopher Cunniff, MD and Committee on Genetics

The pediatrician who cares for a child with a birth defect or genetic disorder may be in the best position to alert the family to the possibility of a recurrence of the same or similar problems in future offspring. The family may wish to know about and may benefit from methods that convert probability statements about recurrence risks into more precise knowledge about a specific abnormality in the fetus. The pediatrician also may be called on to discuss abnormal prenatal test results as a way of understanding the risks and complications that the newborn infant may face. Along with the increase in knowledge brought about by the sequencing of the human genome, there has been an increase in the technical capabilities for diagnosing many chromosome abnormalities, genetic disorders, and isolated birth defects in the prenatal period. The purpose of this report is to update the pediatrician about indications for prenatal diagnosis, current techniques used for prenatal diagnosis, and the status of maternal screenings for detection of fetal abnormalities.

Key Words: prenatal diagnosis • amniocentesis • chorionic villi sampling • genetic screening • chromosome aberrations • prenatal ultrasonography • neural tube defects • genetic counseling • preimplantation diagnosis • {alpha}-fetoproteins

Abbreviations: CVS, chorionic villus sampling • PGD, preimplantation genetic diagnosis • MRI, magnetic resonance imaging • NTD, neural tube defect • MSAFP, maternal serum {alpha}-fetoprotein


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