Skip to main content
SMFM 2024 Pregnancy Meeting Main banner
Final Program


Icon Legend
This session is not in your schedule.
This session is in your schedule. Click again to remove it.
Presentation Icons
Additional registration fee required
Additional registration fee required
Faculty have requested this content not be shared on social media
Faculty have requested this content not be shared on social media
CME Credit Offered
CME Credit Offered
Poster Icons
Foundation Awardee
Foundation Awardee
No Social Media
No Social Media
Back

Oral Concurrent Session 9 - Fetal US Genetics

Oral Concurrent Sessions

(93) Reliability of “lethal” ultrasound markers in identifying fetuses with truly life-limiting skeletal dysplasia

Wednesday, February 14, 2024
5:00 PM – 5:15 PM  
Location: Potomac Ballroom D, Ballroom Level

    Primary Author(s)

  • Haley Crane, MS (she/her/hers)

    Licensed Genetic Counselor
    Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment at CHOP
    Philadelphia, PA, United States

     

    • Coauthor(s)

  • ES

    Erica M. Schindewolf, MS

    Center for Fetal Diagnosis & Treatment, Children's Hospital of Philadelphia
    Philadelphia, PA, United States

     

  • JM

    Julie Moldenhauer, MD

    Professor, Director of Obstetrical Services in the Center for Fetal Diagnosis and Treatment
    Richard D. Wood, Jr. Center for Fetal Diagnosis & Treatment, Children's Hospital of Philadelphia, Perelman School of Medicine of the University of Pennsylvania
    Philadelphia, PA, United States

     

  • Natalie Burrill, MS (she/her/hers)

    Licensed Genetic Counselor II
    Center for Fetal Diagnosis & Treatment, Children's Hospital of Philadelphia
    Philadelphia, PA, United States

     

  • SD

    Suzanne DeBari, BS

    Sonographer
    Center for Fetal Diagnosis & Treatment, Children's Hospital of Philadelphia
    Philadelphia, PA, United States

     

  • Nahla Khalek, MD, MPH, MMedEd (she/her/hers)

    Associate Professor
    Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment at CHOP
    Philadelphia, PA, United States

     

  • Christina (Nina) Paidas Teefey, MD, PMH-C

    Assistant Professor, Clinical Obstetrics and Gynecology in Surgery
    Children's Hospital of Philadelphia
    Philadelphia, PA, United States

    Disclosure(s): I have no relevant financial relationships to report.

  • Shelly Soni, MD

    Assistant Professor
    Children's Hospital of Philadelphia
    Philadelphia, PA, United States

     

  • BC

    Beverly G. Coleman, MD

    Professor, Director of Fetal Imaging
    Richard D. Wood, Jr Center for Fetal Diagnosis and Treatment at CHOP, Perelman School of Medicine of the University of Pennsylvania
    Philadelphia, PA, United States

     

    • Presenting Author(s)

  • Juliana S. Gebb, MD (she/her/hers)

    Associate Professor
    Center for Fetal Diagnosis & Treatment, Children's Hospital of Philadelphia
    Philadelphia, PA, United States

     

Objective: Several ultrasound markers have been proposed to identify fetuses with life-limiting skeletal dysplasia. We sought to determine their diagnostic performance in a fortified cohort.

Study Design: A single-center retrospective chart review was conducted from 2013 to 2023 for pregnancies suspected to have a skeletal dysplasia. Fetuses were evaluated by ultrasound with attention to measurements predictive of lethality, including thoracic circumference/abdominal circumference (TC/AC) < 0.6, femur length/abdominal circumference (FL/AC) < 0.16, and thoracic circumference (TC) < 2.5%ile. Record review included demographic information, imaging, genetic testing, and fetal/neonatal outcome. Statistical analysis included Mann Whitney U and Fisher’s exact tests. Calculation of sensitivity, specificity, positive predictive value, and negative predictive value was also undertaken.

Results: 122 fetuses were identified with prenatal ultrasound findings consistent with a skeletal dysplasia. Of those, 34 (27.9%) had no lethal markers, 52 (42.6%) had one lethal marker, 31 (25.4%) had two lethal markers, and 5 (4.1%) had three lethal markers. Outcomes based on number of lethal markers are detailed in Table 1. 96 (78.7%) patients had complete outcome data. In those, FL/AC ratio < 0.16 and TC < 2.5%ile were associated with death or a life-limiting genetic diagnosis (p< 0.001; p< 0.001) while TC/AC < 0.6 was not (p=0.056) (Table 2). The positive predictive value for predicting death or a life-limiting genetic diagnosis increased from 50.0% with one lethal ultrasound marker to 76.9% with two lethal markers to 100% with three lethal markers. The negative predictive value of no lethal markers was 90.9%. 

Conclusion: In our cohort, ultrasound markers of lethality did not necessarily portend a life-limiting postnatal diagnosis until three lethal parameters were present and absence of lethal markers did not guarantee a non-lethal dysplasia. This highlights the importance of the combination of thorough ultrasound examination, genetic testing, and balanced parental counseling.