The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

Abstract

Objective To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling. Methods We retrospectively reviewed 500 medical records from women with prenatal or preconception genetic counseling at a prenatal genetic counseling service. We tabulated acceptance of ECS by indication for genetic counseling along with demographic and pregnancy‐related factors. Results ECS was offered to 483 of 500 women, and 192 (39.8%) accepted. Of the 67 women counseled preconceptionally, 46 (68.7%) accepted ECS. This was significantly more than for 416 women counseled during pregnancy, of whom 146 (35.1%) accepted (P ≤ 0.001). For pregnant patients, the mean gestational age of those accepting ECS (12 weeks 3 days; n = 146) was significantly lower than those declining (13 weeks 4 days; n = 270; P ≤ 0.001). The acceptance rates were 7 of 12 (58.3%, P = 0.195) for Ashkenazi Jewish women, 12 of 41 (29.3%; P = 0.186) for Asian women, and 7 of 25 (28.0%; P = 0.241) for women of mixed ethnicity. Conclusions These results suggest that receiving genetic counseling prior to or earlier in the first trimester is associated with acceptance of ECS and support the importance of early genetic counseling about carrier screening options.

Expanded Carrier Screening in Chinese Population – A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women

“…This finding is consistent with a previous retrospective study comparing ECS actual uptake rate between pregnant and nonpregnant women. The study found significantly more nonpregnant women accepting ECS after pre-test counseling by geneticists compared to pregnant women in their 13-14 weeks of gestation (Larsen et al, 2019). When it comes to the reason for electing or declining ECS, the top reason in both groups for electing ECS was that women thought ECS is helpful in confirming whether their children were at risk of recessive genetic diseases, thereby guiding them to make informed choices.…”

It takes two: uptake of carrier screening among male reproductive partners

“…However, the patient's gestational age ( p = .014) and parity ( p < .001) did influence if partners pursued carrier screening. These two factors have previously been described as general predictors of prenatal genetic testing uptake …”

“…These two factors have previously been described as general predictors of prenatal genetic testing uptake. 21 Due to the retrospective nature of this study, analysis was restricted to information documented in our clinical database. We could therefore not ascertain more specific predictors or barriers related to partner carrier screening uptake.…”

Expanded carrier screening for recessive genetic disorders: a review

“…The acceptance of carrier screening is higher for couple who received genetic counselling before pregnancy. The uptake of carrier screening was 68.7% and 35.1% for couple who were counselled preconceptionally and during pregnancy, respectively 8 . Factors such as indication for genetic counselling, maternal and paternal family history of genetic diseases, maternal and paternal age, ethnicity, multigestational pregnancies, and previous miscarriages were not significantly associated with the acceptance rate of expanded carrier screening 8 .…”

“…The uptake of carrier screening was 68.7% and 35.1% for couple who were counselled preconceptionally and during pregnancy, respectively 8 . Factors such as indication for genetic counselling, maternal and paternal family history of genetic diseases, maternal and paternal age, ethnicity, multigestational pregnancies, and previous miscarriages were not significantly associated with the acceptance rate of expanded carrier screening 8 . Although the underlying cause of the difference in uptake was not identified, it was postulated that limited pregnancy options after prenatal diagnostic testing affected the willingness of couple to undergo expanded carrier screening 8 .…”