Nationwide, couple-based reproductive carrier screening program demonstrates feasibility microbiologystudy

A nationwide, couple-based reproductive carrier screening program has demonstrated feasibility in informing reproductive decision-making, according to a study published in the Nov. 21 issue of the New England Journal of Medicine.

Edwin P. Kirk, M.B., B.S., Ph.D., from the Sydney Children’s Hospital, and colleagues examined the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia. Screening was offered to persons before pregnancy or early in pregnancy. The reproductive couples were provided with results obtained from testing at least 1,281 genes.

The researchers found that 90.7 percent of the 10,038 reproductive couples enrolled in the study completed screening and 1.9 percent were newly identified as having an increased chance of having a child with a genetic condition identified in screening. The conditions involved pathogenic variants in 90 different genes, 74.3 percent of which were autosomal recessive.

To avoid having an affected child, 76.6 percent of the couples with a newly identified increased chance had used or planned to use reproductive interventions three months after receipt of the results. Compared with those with a low chance, those newly identified as having an increased chance had greater anxiety.

In all result groups, the level of decisional regret was low; screening was perceived as acceptable in 98.9 percent of participants.

“Couple-based carrier screening, before pregnancy or early in pregnancy, is a feasible way to deliver reproductive genetic carrier screening involving a large panel of genes to a geographically dispersed and diverse population,” the authors write.

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