Evaluating pregnancy termination rates for fetal chromosome and single gene disorders

Abstract

We report pregnancy termination rates following a variety of fetal diagnoses and determine which factors may influence this decision. We conducted a retrospective chart review of pregnancies diagnosed with a genetic abnormality at a single institution from January 2012 to April 2023. The type of diagnosis, termination status, and thirteen demographic factors were collected. The primary outcome assessed was whether or not an individual terminated the pregnancy. Data analysis consisted of multivariable logistic regression. Of the 2120 patients who underwent prenatal diagnostic testing, 332 received a fetal diagnosis and met inclusion criteria. The overall termination rate was 61.5% (204/332). Compared with sex chromosome abnormalities, trisomy 18/trisomy 13/triploidy (adjusted odds ratio [aOR] 6.35, 95% Confidence Interval [CI] 1.93–20.90) and trisomy 21 (aOR 4.39, 95% CI 1.58–12.24) had higher odds to terminate, while likely benign copy number variants (CNVs) (aOR 0.17, 95% CI 0.03–0.99) had lower odds to terminate. Black paternal race and ethnicity had a lower termination rate (aOR 0.08, 95% CI 0.03–0.23) compared to White counterparts. Earlier gestational age at diagnosis was associated with higher odds of termination (aOR 0.84, 95% CI 0.78–0.90). This study demonstrates that termination rates varied by type of fetal diagnosis. Paternal race and ethnicity, as well as gestational age at diagnosis, also impacted the decision to terminate.