Pregnancy outcomes after prenatal diagnosis of aneuploidy

To determine the benefits of antenatal diagnoses of fetal aneuploidy in women who continued their pregnancies.

A questionnaire was mailed to 51 mothers of children with aneuploidy. Women whose fetuses were diagnosed prenatally comprised the study group and those whose infants were diagnosed at birth were controls. Outcomes measured included an assessment of pregnancy management, neonatal outcome, subjective measures of depression and anxiety, and evaluation of women's emotional and physical experience of the pregnancy. For outcomes measured by nonparametric survey questions, 20 women were needed in each arm to achieve a power of 80% to detect a 2-point difference on a 6-point scale; for our neonatal outcomes, 100 women were needed in each arm to achieve 80% power to detect a difference in length of stay (less than 1 week versus greater than 1 week) or need for surgery.

Thirty-eight women (75%) responded. Most (86%) had children with trisomy 21. Seventeen women (45%) received their child's diagnosis at birth; 21 (55%) had prenatal diagnoses. Demographic measures were similar except that women with prenatal diagnoses attended religious services more frequently (1--3 times per month versus once to several times per year, P =.04). Women with prenatal diagnosis had better perceptions of their physical experience of pregnancy (median score of 10 versus 6 on a 10-point visual analog scale, P =.005) and their emotional experience of the birth (median score of 7.5 versus 2, P =.001). Mental Health Inventory scores were similar between groups. Neonates without prenatal diagnoses were more likely to be transferred to tertiary centers after birth (70% versus 24%, P =.004); lengths of hospital stays and need for surgery were similar. Seventy-one percent (95% confidence interval [CI] 48, 89%) of women with prenatal diagnoses said they would have done nothing differently in the pregnancy compared with 29% (95% CI 10, 56%) of women with diagnoses at birth.

Early knowledge of fetal aneuploidy is beneficial to women who continue their pregnancies. These results might be useful when counseling women who do not intend to terminate abnormal pregnancies, but are considering prenatal diagnosis.