Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study

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D Claire Miller, Devika Chawla, Summer Pierson, Katherine Johansen Taber Clinical Development, Myriad Genetics, Inc., Salt Lake City, UT, USACorrespondence: D Claire Miller, Clinical Development, Myriad Genetics, Inc., 322 N 2200 W, Salt Lake City, UT, 84116, USA, Tel +1 801 584-3600, Email claire.miller@myriad.comPurpose: 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.Keywords: microdeletions, prenatal cfDNA, prenatal diagnosis, microdeletion 22q11.2, microdeletion 15q11.2

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