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Recording available 2/16-5/2
Recording available 2/16-5/2
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Poster Session 1

Category: Genetics

Poster Session 1

(385) Prenatally-diagnosed cleft lip and palate: Genetic findings and sequencing yield in isolated versus non-isolated cases

Wednesday, February 11, 2026
10:30 AM - 12:00 PM  

    Submitting Author and Presenting Author(s)

  • Thomas P. Kishkovich, MD (he/him/his)

    Maternal Fetal Medicine Fellow
    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center
    New York, New York, United States

    • Coauthor(s)

  • Gabriela F. Tessler, MD

    Obstetrics and Gynecology Resident
    Columbia University Medical Center
    New York, New York, United States

  • MA

    Meghan Angley, PhD

    Postdoctoral Research Scientist
    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center
    New York, New York, United States

  • TI

    Thomas A. Imahiyerobo, MD

    Director Cleft and Craniofacial Surgery Section, Chief Pediatric Plastic and Reconstructive Surgery
    Division of Plastic Surgery, Columbia University Irving Medical Center
    New York, New York, United States

  • SL

    Sherelle L. Laifer-Narin, MD

    Chief Ultrasound and Fetal MRI, Associate Professor of Radiology
    Department of Radiology, Columbia University Irving Medical Center
    New York, New York, United States

  • HM

    Hong Ma, MD

    Assistant Professor of Radiology
    Department of Radiology, Columbia University Irving Medical Center
    New York, New York, United States

  • Lynn L. Simpson, MD (she/her/hers)

    Hillary Rodham Clinton Professor of Women's Health
    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center
    new york, New York, United States

  • CB

    Caitlin D. Baptiste, MD

    MFM Fellow
    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center
    New York, New York, United States

  • JG

    Jessica L. Giordano, MS (she/her/hers)

    Associate Director, Women's Genetics Research/Assistant Professor
    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center
    New York, New York, United States

  • RM

    Russell S. Miller, MD (he/him/his)

    Sloane Hospital for Women Associate Professor of Prenatal Pediatrics (in Obstetrics and Gynecology)
    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center
    New York, New York, United States

  • RW

    Ronald J. Wapner, MD

    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center
    New York, New York, United States

Objective:
Evaluate prevalence of genetic conditions in prenatally diagnosed isolated and non-isolated fetal cleft lip and/or palate (CLP).

Study Design:
Retrospective cohort study of prenatally diagnosed CLP at a single referral center between 2017-24. Inclusion required prenatal or postnatal genetic testing via karyotype, chromosomal microarray (CMA), and/or exome/genome sequencing. Prenatal imaging and genetic findings compared between isolated CLP (iCLP) and CLP with additional anomalies (CLP+). T-tests, Wilcoxon rank-sum, Chi-Square, or Fisher’s Exact tests used as appropriate.

Results:
58 pregnancies met inclusion criteria: 20 (34.5%) iCLP and 38 (65.5%) CLP+. Unilateral CLP was present in 55% of iCLP and 36.8% of CLP+ cases. There were no demographic differences between groups. Among CLP+, the most common additional prenatally detected anomalies were central nervous system (55.3%) and cardiac (52.6%). Of available postnatal evaluations, 2/15 (15.4%) of iCLP and 9/22 (40.9%) of CLP+ cases (p = 0.14) had additional structural anomalies identified after delivery. (Table 1)

Across the entire cohort, 21 (36.2%) pregnancies had reported findings from genetic testing, with 16 (76.2%) possessing findings likely causative of CLP. CLP+ pregnancies were more likely to have causative findings (36.8% vs 10.0%, p = 0.03). 11 of 16 (68.8%) likely causative findings were detected via karyotype/CMA. Among 29 patients with sequencing, 5 (17.2%) had likely causative variants not detected by karyotype and CMA. One pregnancy had dual findings, three had incidental actionable findings via sequencing, and two had uncertain results via CMA. (Table 2)

Conclusion:
While CLP+ was associated with higher rates of genetic diagnoses, all CLP was associated with increased risk of both cytogenetic and genomic genetic diagnoses. In cases with non-causative karyotype or CMA, sequencing revealed a causative genomic variant in approximately 1 in 6 cases. Sequencing diagnosed unsuspected, but clinically relevant findings in 3 additional cases. Evaluation with sequencing is therefore recommended for all pregnancies complicated with CLP.