Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen

Abstract

Expanded carrier screening identifies individuals who are at risk of having a child with an autosomal recessive condition. The most accurate risk assessment requires that both mother and father undergo carrier screening to determine whether they are carriers of the same autosomal recessive condition. A couple identified as carriers of the same condition has a 25% chance of having a child with that condition. However, the father does not always opt for carrier screening following a positive result in the mother. This study aimed to identify barriers that prevent the father from carrier screening after a positive finding in the mother. A total of 58 women participated in this study. All participants had undergone expanded carrier screening prior to the study and had met with a genetic counselor for a pre‐test, informed consent session. Of the 58 women, 34 had partners who did not undergo screening and 24 had partners who did. Participants completed a survey to determine the barriers that prevented the father of the baby's participation. We report that the mother's insurance type, whether the father has insurance, relationship status, and knowledge of the carrier screen showed statistically significant differences between women whose partners underwent screening and those that did not. In summary, our finding suggests that increasing insurance coverage of paternal screening and improving the patient's knowledge of the expanded screen would encourage paternal screening.

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

“…7 Male partners have also reported the belief that results would not impact pregnancy management, not wanting to know their carrier status, and concern about the cost and insurance coverage of screening. 12,13 A recent study's comparatively high frequency of compliance (77%) was attributed to the center's ARJUNAN ET AL.…”

“…7 Male partners have also reported the belief that results would not impact pregnancy management, not wanting to know their carrier status, and concern about the cost and insurance coverage of screening. 12,13 A recent study's comparatively high frequency of compliance (77%) was attributed to the center's protocol for arranging posttest counseling appointments, drawing the partner's blood on the day of the follow-up visit, and offering free or reduced-cost testing in many cases. 12 In our study, high compliance in the tandem and tandem reflex groups translated into a higher percentage of identified ARCs compared to the sequential group, a result additionally demonstrated by modeling data.…”

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

“…Although the traditional workflow is effective for detecting carriers of autosomal recessive conditions, the detection rate of high-risk fetuses is up to 42%, as the lack of paternal follow-up testing is significant and leaves > 58% of carrier women without a fully informative risk assessment for their pregnancy. 5,6 In contrast, the reflex sgNIPT carrier screen provides patients and physicians with a personalized risk assessment for the fetus, allowing for more informed counseling and decision making regarding follow-up testing. Additionally, the reflex sgNIPT workflow reduces the time from blood draw to identification of high-risk fetuses by up to eight weeks, which is clinically important with regard to prenatal diagnostic testing and reproductive options, often with varying gestational-age limitations.…”

“…For instance, the mother's insurance type, whether the father has insurance, relationship status, and knowledge of the maternal carrier screen results could all contribute to the difference in the paternal participation of carrier screening. 6 As 40% of US births are to unmarried women, 7 male partners are often unavailable for genetic testing. Furthermore, partner testing creates significant logistical burden to obstetric clinics.…”

“…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.…”