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Q&A

Fetus

Poster Session 1

(177) Value of “lethal” ultrasound markers identifying fetuses with lethal skeletal dysplasia before/after 28 weeks

Tuesday, February 13, 2024

10:30 AM – 12:00 PM

Location: Prince George's Exhibit Hall CDE, Lower Atrium 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
NK

Nahla Khalek, MD,MPH,MMedEd

Assistant Professor
Center for Fetal Diagnosis & Treatment, Children's Hospital of Philadelphia
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
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 lethal skeletal dysplasia. We sought to determine their utility in fetuses < vs >= 28 weeks.

Study Design: Single-center retrospective review of pregnancies with suspected fetal skeletal dysplasia from 2013-2023. Ultrasound was performed 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. Fetuses were grouped based on gestational age at diagnosis. Demographic information, imaging, genetic testing, and outcome were collected. Statistical analysis included Fisher’s exact test and calculation of sensitivity, specificity, positive predictive value, and negative predictive value.

Results: 122 fetuses had a prenatal ultrasound consistent with a skeletal dysplasia between 16-38 weeks. Of those, 88 (72%) were < 28 weeks and 34 (28%) were >= 28 weeks. Outcomes are detailed in Table 1. Complete outcome data was available for 96 patients. In the cohort diagnosed at < 28 weeks, FL/AC ratio < 0.16 and TC < 2.5%ile were associated with death or a lethal genetic diagnosis (p< 0.001; p< 0.001) while TC/AC < 0.6 was not (p=0.280) (Table 2). In the cohort diagnosed at >= 28 weeks, only TC < 2.5%ile was associated with death or a lethal genetic diagnosis (p=0.006) (Table 2). The positive predictive value of one, two and three “lethal” ultrasound markers for predicting death or a lethal genetic diagnosis went from 58%, 90%, and 100% at < 28 weeks to 27%, 43%, and 100% at >= 28 weeks, respectively. The negative predictive value of no lethal markers was 91% in both groups.

Conclusion:

In our cohort, the positive predictive value of one or two “lethal” ultrasound markers was lower in fetuses diagnosed at >= 28 weeks compared to those diagnosed earlier in pregnancy. This highlights the importance of thorough ultrasound examination, genetic testing, and balanced parental counseling particularly in patients presenting later in gestation.