Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management.

ABSTRACT:

Objective

Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, with most studies having small sample sizes. Here, we describe outcomes and management in a large cohort of pregnancies that screened positive for an RAA (RAA+).

Methods

Results of prenatal cell-free DNA screening were linked to de-identified insurance claims data. Diagnosis and procedure codes were used to estimate pregnancy outcomes and management. Relevant covariates in comparative analyses were adjusted using propensity-score matching. Outcomes were statistically compared using Mantel-Haenszel and McNemar's tests.

Results

Among 682 RAA+ pregnancies, the rate of live birth was significantly lower (56.7% vs. 78.7%; p < 0.001), and the rates of miscarriage and preterm

SUBMITTER: Chawla D 

PROVIDER: S-EPMC12435144 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature