Family planning decisions after prenatal detection of fetal abnormalities.

OBJECTIVE: Our purpose was to assess the family planning decisions made by women found to be carrying fetuses with chromosome abnormalities or neural tube defects. STUDY DESIGN: We studied the family planning decisions of 132 women carrying fetuses with chromosome abnormalities (n = 91) or neural tube defects (n = 41) with regard to prenatal diagnosis, pregnancy management decision, patient's gravidity, and maternal and gestational age. RESULTS: Twenty women (17 carrying fetuses with chromosome abnormalities and 3 with fetal neural tube defects) elected permanent sterilization after completion of the affected pregnancy. Only maternal age and fetal chromosome abnormalities were associated with a decision to obtain permanent sterilization. CONCLUSIONS: Most women carrying fetuses with chromosome abnormalities or neural tube defects will not choose permanent sterilization after completion of the pregnancy. Delaying such decisions until resolution of grief and depression is now facilitated by the availability of safe, reliable, and relatively long-term reversible contraceptive agents.

PIP: Clinicians examined the family planning decisions of 3938 women who underwent prenatal diagnosis (ultrasonography, amniocentesis, or chorionic villus sampling) at the Division of Reproductive Genetics at the University of Tennessee in Memphis between January 1988 and May 1993. 104 women were carrying fetuses with chromosome abnormalities, of whom 92 opted to terminate their pregnancies. 57 women were carrying fetuses with neural tube defects, of whom 49 chose to end their pregnancies. Among the 91 fetal chromosome abnormality cases with complete information on family planning decisions, 84 had autosomal abnormalities and 7 had sex chromosome abnormalities. Among the 41 fetal neural tube defect cases with complete information on family planning decisions, 22 had spina bifida and 19 had anencephaly. The mean age of women with a chromosome abnormality fetus was higher than that of those with a neural tube defect fetus (36.8 vs. 27.3 years; p 0.03). Just 20 women (15.2%) chose permanent sterilization after continuing or terminating the affected pregnancy. Women carrying fetuses with chromosome abnormalities were more likely to choose permanent sterilization than those carrying fetuses with neural tube defects (18.7% vs. 7.3%; p 0.03). Advanced maternal age was associated with the decision to undergo permanent sterilization (p 0.04). Physicians should counsel women who have opted to terminate a pregnancy of an abnormal fetus to delay any decision to undergo permanent sterilization to allow for resolution of grief and depression. They should advise the women to use safe, reliable, and long term reversible contraceptive agents (e.g., Norplant subdermal implant system, the injectable Depo-Provera, IUDs, and oral contraceptives).

Significance of septations in isolated fetal cystic hygroma detected in the first trimester.

Recent reports have indicated an increased risk for fetal chromosome abnormalities, especially autosomal trisomy, in fetuses with isolated cystic hygroma, or prominent nuchal membranes, detected by ultrasonography during the first trimester. However, these reports present contradictory information regarding the prognostic significance of septations within the cystic hygroma. We evaluated, in blind fashion, 55 consecutive cases of isolated fetal cystic hygroma detected at or before 13.9 weeks' gestation to determine the association between septations and fetal chromosome complement. Septations were associated (P < 0.05) with an increased risk for fetal chromosome abnormalities. However, the incidence of chromosome abnormalities was also increased (12.5 per cent) among cases not characterized by septations. Thus, we believe it prudent to offer invasive prenatal testing to all women found to be carrying fetuses with cystic hygroma, irrespective of the presence or absence of septations.