Prenatal hemoglobinopathy screening. IV. Follow-up of women at risk for a child with a clinically significant hemoglobinopathy.

To determine the benefits and burdens of prenatal hemoglobinopathy carrier identification and genetic counseling and its impact on subsequent reproductive behavior, we recontacted women whom we had previously identified as at risk for having a child with a clinically significant hemoglobinopathy, regardless of whether they had accepted the offer of prenatal diagnosis. Of the 46 such women, 31 were available for interview. These 31 women had received offers of prenatal diagnosis in 47 pregnancies. Seventeen had been accepted, and 30 had been declined. The proportion of patients accepting the offer of prenatal diagnosis was higher for the index pregnancy (50%) than for subsequent pregnancies (22%). The mean interval between the initial counseling of the patient and the follow-up interview was 43 mo (standard error +/- 2.7 mo). Ninety-four percent of those interviewed recalled having received information from the screening program; 74% recalled the name of their condition; 90% knew that trait did not affect their health; 84% recalled the name of the condition for which their fetus had been at risk; and 77% could state at least one symptom of the disease. Of the 29 women asked whether they intended to use prenatal diagnosis in future pregnancies, 13 said yes and 16 said no. Of the 26 patients asked about satisfaction with their previous decision about prenatal diagnosis, all were satisfied with their decision. Eighteen said they would make the same decision in their next pregnancy, but seven patients said they would not, and one was undecided. Three had not used prenatal diagnosis but planned to do so in future pregnancies because (1) the information obtained would have resolved their uncertainty about the status of the fetus or (2) as a result of having had prenatal diagnosis, they realized that the information obtained might have led them to reconsider continuing the pregnancy, or (3) the information obtained would have helped them to prepare for a symptomatic child; two of the three had affected children. Four had used prenatal diagnosis but did not plan to do so in the future pregenancies because (1) they had feared the fetus might be injured or miscarried as a result of the procedure or (2) as a result of having had prenatal diagnosis, they realized that they would not have terminated a pregnancy even if the fetus had been shown to have a symptomatic hemoglobinopathy.