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

Abstract

Objective To describe uptake of carrier screening by male reproductive partners of prenatal and preconception patients. Methods A retrospective database review of all prenatal and preconception patients seen for genetic counseling in Maternal Fetal Medicine clinics was performed. Descriptive statistics and chi‐square analysis were used on the data set. Results Within the study period, 6087 patients were seen for genetic counseling, of whom 661 were identified as a carrier of an autosomal recessive disorder by their referring provider or genetic counselor. Despite guidelines recommending partner testing for risk clarification when a woman is known to be a carrier of an autosomal recessive condition, only 41.5% male partners elected carrier screening to clarify the couple's reproductive risk, with a majority of males (75%) having screening consecutively. Of all assessed variables, the only significant predictors of male carrier screening uptake were female parity and earlier gestational age (p < .0001, and p = .001, respectively). Conclusion With less than half of male partners pursuing carrier screening when indicated, its utility becomes severely diminished. More research is needed to explore reasons why males elect or decline carrier screening.

Reflex single-gene non-invasive prenatal testing significantly increases the cost-effectiveness of carrier screening

“…In the traditional screening workflow, two separate tests must be ordered, drawn, and reported, resulting in a period of 6-8 weeks to identify high risk fetuses, as demonstrated in a recent study where the average time between maternal result disclosure and paternal blood draw was 13.9 days (Figure 1). 5 Early identification of high-risk fetuses offers clinicians and patients additional time to discuss options for prenatal and neonatal interventions, such as termination of pregnancy. For the model inputs, we used previously reported termination rates (14-55%) for the disorders screened (Table S6).…”

“…A study in 2019 found that 436 out of 462 patients (94.4%) undergoing carrier screening were screened prenatally. 5 The primary goal of carrier screen, when performed prenatally, is to identify high-risk fetuses. First, pregnant mothers are screened for their carrier status.…”

“…As a result, the traditional carrier screen model fails to identify nearly 60% of affected pregnancies. 5,6 The carrier screen with reflex single-gene non-invasive prenatal testing (sgNIPT) is designed for common recessive disorders, including CF, SMA, and hemoglobinopathies. Similar to a traditional carrier screen, the carrier screen with reflex sgNIPT first screens maternal carrier status by sequencing the maternal genomic DNA.…”

Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples

“…7 In one study, only 38% of male partners followed-up with screening. 7 Lack of male partner follow-up diminishes the ability of ECS to provide clinically actionable results, underscoring the need for mechanisms to efficiently gather the male partner's sample and decrease provider workload.…”

“…However, it results in needless testing of partner samples for which no reproductive risk was identified in the other partner. 7 "Tandem reflex" screening is a novel strategy to limit unnecessary partner testing by collecting both partners' samples in tandem, but testing the second partner's sample only if the first partner was found to be a carrier of an autosomal recessive condition (Figure 1).…”