Nationwide, Couple-Based Reproductive Carrier Screening Program Demonstrates Feasbility
By Elana Gotkine HealthDay Reporter
WEDNESDAY, Nov. 20, 2024 -- 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.
Abstract/Full Text (subscription or payment may be required)
Editorial (subscription or payment may be required)
Disclaimer: Statistical data in medical articles provide general trends and do not pertain to individuals. Individual factors can vary greatly. Always seek personalized medical advice for individual healthcare decisions.
© 2025 HealthDay. All rights reserved.
Posted November 2024
Read this next
Myocardial Fibrosis Linked to Ventricular Arrhythmia in Male Endurance Athletes
TUESDAY, July 22, 2025 -- Myocardial fibrosis is independently associated with the onset of ventricular arrhythmia in male veteran endurance athletes, according to a study...
Digital Model Based on Noninvasive Factors Shows Accuracy for Identifying IBD in Children
TUESDAY, July 22, 2025 -- A model based on noninvasive tests shows high accuracy as a digital tool for the rapid identification of children with inflammatory bowel disease (IBD)...
Prevalence of Extremely Severe Obesity Increasing in Children
TUESDAY, July 22, 2025 -- From 2008 to 2023, there was an increase in the prevalence of extremely severe obesity in children, especially among older adolescents and non-Hispanic...
More news resources
- FDA Medwatch Drug Alerts
- Daily MedNews
- News for Health Professionals
- New Drug Approvals
- New Drug Applications
- Drug Shortages
- Clinical Trial Results
- Generic Drug Approvals
Subscribe to our newsletter
Whatever your topic of interest, subscribe to our newsletters to get the best of Drugs.com in your inbox.