Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision-making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.

This is a cross-sectional study of maternal and fetal outcomes among individuals with genetic conditions, who delivered between 2011 and 2024. The primary outcomes were the rates of prenatal diagnostic testing and positive neonatal findings.

Of 283 cases, 25 (8.8%) individuals underwent prenatal diagnostic testing, of which 24 (96%) specifically tested for the maternal genetic condition. The maternal condition was inherited by 48% of those undergoing prenatal diagnostic testing versus 18.6% of those who underwent post-natal genetic testing. The group that underwent prenatal diagnostic testing had a smaller proportion of autosomal recessive conditions than those who did not undergo diagnostic testing (8% vs. 38%, p = 0.0028).

Despite an elevated risk of genetic condition transmission in this cohort, the rate of prenatal diagnostic testing was notably low. Prenatal diagnostic testing has significant implications for perinatal planning and long-term health of the fetus. Further studies should evaluate barriers to and attitudes toward diagnostic testing in individuals with genetic conditions.