Prenatal Genetic Diagnostic Testing

If specific risk factors for fetal abnormalities are identified in the mother, appropriate counseling and specific diagnostic testing should be offered. The most common reason to offer prenatal genetic diagnosis is advanced maternal age; a somewhat linear increase in nondisjunction in meiosis increases the risk of a conception with aneuploidy (abnormal chromosome number). This is one reason why older women have a higher rate of spontaneous first-trimester miscarriage. It is also why older women are more likely to give birth to a child with a chromosomal abnormality, most often Down syndrome (trisomy 21).

Women of advanced maternal age are those 35 or older at the anticipated birth of their baby. This group of women should be given specific counseling and offered diagnostic testing in the form of amniocentesis or CVS to ascertain the well-being of their fetus.

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