ArticleThe application of clinical genetics2026
Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study.
Article in The application of clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: To compare pregnancy outcomes and management between patients screening positive for five microdeletions (microdeletion screen-positive, MDS+) and patients screening negative (microdeletion screen-negative, MDS-). Patients and Methods: Patients who received a prenatal cell-free DNA (pcfDNA) test that screens for microdeletions 22q11.2, 15q11.2, 1p36, 4p, and 5p and results were linked to de-identified insurance claims. Diagnosis and procedure codes were used to assess outcomes. Logistic and Poisson regression with adjustment for prior high-risk pregnancy and payer type were used to compare pregnancy outcomes and management in those with MDS+ and MDS- results. Results: A total of 119 MDS+ patients and 287,169 MDS- patients were eligible for analysis. During pregnancy, MDS+ patients were more likely than MDS- patients to have polyhydramnios (18.5% in MDS+ vs. 3.4% in MDS-; OR=6.3 [95% CI: 3.8-10.1]; p<0.001) and fetal growth restriction (22.2% in MDS+ vs. 10.4% in MDS-; OR=2.4 [95% CI: 1.5-3.7]; p<0.001). MDS+ patients were more likely to experience pregnancy loss (OR=3.2; 95% CI: 1.3-6.3; p=0.004) or terminate the pregnancy (OR=22.2 [95% CI: 8.6-46.8]; p<0.001). Among patients with a live birth, MDS+ were more likely to have a preterm delivery (25.0% in MDS+ vs. 15.4% in MDS-; OR=1.8 [95% CI: 1.0-3.0]; p=0.04). MDS+ patients had increased pregnancy management, including more invasive diagnostic testing (13.4% in MDS+ vs. 0.5% in MDS-; OR=31.0 [95% CI: 17.5-51.1]; p<0.001) and more frequent echocardiograms (RR=1.5 [95% CI: 1.2, 1.9]; p<0.001) compared to MDS- pregnancies. Conclusion: MDS+ pregnancies had elevated rates of ultrasound abnormalities, pregnancy loss, preterm birth, and pregnancy management as compared to an MDS- control group. These findings support the clinical utility of microdeletion screening in prenatal care.
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