Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive-age persons seeking gynecologic care at a single U.S. academic medical center.

The objective of this study was to assess the level of interest in preconception carrier screening among reproductive-aged persons presenting for gynecologic care and to identify demographic factors predictive of pursuing screening. Patients aged 18-40 who were presenting for gynecologic care at a single U.S. academic medical center were provided with information about current options for preconception carrier screening and were offered genetic counseling referral with the possibility to undergo screening. Outcomes of interest were desire for genetic counseling referral and attendance at genetic counseling visit. Statistical analyses were performed as appropriate using R version 3.6.1 with variables significant at 0.1 included in a multivariable logistic regression. Of 193 participants, 79 (41%) desired genetic counseling referral. Participants aged 25-34 (OR 3.39, 95% CI 1.47-8.10) and nulliparas (OR 2.69, 95% CI 1.23-6.03) were more likely to desire referral. Thirty-five participants (44.3% of those who desired referral) attended a visit with genetic counseling. Having an advanced degree (OR 3.27, 95% CI 1.06-10.4) was associated with visit attendance. Thirteen participants underwent screening, and five were found to be a carrier of at least one X-linked or autosomal recessive condition. Surprisingly, presenting for a gynecologic visit directly related to planning a pregnancy was not associated with increased interest in preconception carrier screening. Nulliparas and those aged 25-34 likely expressed greater interest in referral due to high potential for future childbearing in these groups. The increased level of visit attendance in participants with advanced degrees is likely confounded by the high level of health literacy and financial resources in this group.

Clinical impact of systematic genetic sonogram screening in a low-risk population.

OBJECTIVE: To determine the clinical impact of a genetic sonogram (GS) on a population at low risk for trisomy 21 (T21). STUDY DESIGN: A GS evaluating common major and minor markers was created and prospectively applied to consecutive women at 15-20 weeks' gestation presenting for routine ultrasound and at low T21 risk. Prenatal diagnosis (PND) referral occurred if 1 major marker, 2 minor markers, major malformation or choroid plexus cysts (CPCs) were seen. Neonatal outcomes were determined by chart review for neonates born at our institution and by letter for those born elsewhere. Using an ultrasound database, a similar population was identified prior to study inception and the GS retrospectively applied. PND referrals in both periods were confirmed by chart review. The rates of isolated minor marker (IMM), positive GS and PND referrals were compared using chi2 analysis. RESULTS: IMM detection was unchanged (43 of 434, 10.1%) in the study vs. (23 of 243, 9.5%) control group. Excluding CPCs, 6 of 18 (33.3%) subjects of vs. 2 of 28 (7.1%) controls with IMM were referred for prenatal diagnosis (p < 0.03). The frequency of positive GS was unchanged: 14 of 434 (3.2%) subjects vs. 5 of 243 (2.1%) controls. CONCLUSION: Currently no prospectively studied, effective ultrasound models exist for screening low-risk populations at 15-20 weeks. A GS with clear criteria for counseling on an increased T21 risk decreased inappropriate referrals without increasing positive screens.