This statement is for the pediatrician who may be called upon to care for the child with a birth defect or genetic disorder. The involved family may wish to know and may benefit from methods that convert probability statements about recurrence risks into facts about the fetus. Many families will find knowledge and choice better than chance.
Rapid advances in technology have prompted the Committee on Genetics to retire the June 1980 statement and to prepare a new one. The purpose of this revised statement is to inform the pediatrician about the current status of antenatal diagnosis as it relates to genetic and family counseling in clinical practice.
The pediatrician may be called upon to help address questions about the natural history of the disorder under consideration and the possibility of intrauterine treatment. Prenatal diagnosis can give information that may improve the outcome of pregnancy and can be helpful to the obstetrician in the management of labor and delivery. The availability of prenatal diagnosis gives couples options they might not otherwise have, including termination of an affected pregnancy or preparation for the birth of an abnormal child. This enables many couples to have children, when without this information they would have chosen to be childless.
The techniques currently in use or under investigation for prenatal diagnosis include (1) fetal tissue sampling: amniocentesis, chorionic villus sampling, percutaneous umbilical blood sampling, precutaneous skin biopsy, and other organ biopsies; (2) fetal visualization: ultrasound, fetoscopy, magnetic resonance imaging, and radiography; and (3) maternal serum α-fetoprotein screening.
INDICATIONS FOR FETAL TISSUE SAMPLING
- Copyright © 1989 by the American Academy of Pediatrics