The Reliability of Ultrasound Markers in Identifying Fetuses With a Life‐Limiting Skeletal Dysplasia

Author:

Crane Haley M.1ORCID,Schindewolf Erica1,Burrill Natalie1,Debari Suzanne1,Khalek Nahla12,Paidas Teefey Christina12,Soni Shelly12ORCID,Coleman Beverly123,Moldenhauer Julie S.12,Gebb Juliana12ORCID

Affiliation:

1. Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

3. Department of Radiology The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Abstract

ABSTRACTObjectiveTo determine the diagnostic performance of ultrasound markers associated with life‐limiting fetal skeletal dysplasia in a fortified cohort.MethodsRetrospective review from 2013 to 2023 of pregnancies with suspected fetal skeletal dysplasia. Ultrasound evaluation included measurements predictive of a life‐limiting dysplasia: thoracic circumference/abdominal circumference (TC/AC) < 0.6, femur length/abdominal circumference (FL/AC) < 0.16, and thoracic circumference (TC) < 2.5th percentile. Demographics, ultrasound findings, genetic testing, and fetal/neonatal outcome were reviewed.ResultsOf 96 fetuses with complete outcome data, 47 (49%) had a non‐life‐limiting dysplasia and 49 (51%) had a life‐limiting dysplasia. 22 (23%) had no life‐limiting markers, 42 (44%) had one, 27 (28%) had two, and 5 (5%) had three. FL/AC < 0.16 and TC < 2.5th percentile were associated with life‐limiting dysplasia (p < 0.001; p < 0.001), while TC/AC < 0.6 was rare and did not reach statistical significance (p = 0.056). The positive predictive value (PPV) for predicting life‐limiting dysplasia increased from 50% to 78% to 100% with one, two, or three markers. The PPV of the two life‐limiting markers was significantly higher in those diagnosed at < versus ≥ 28 weeks (90% vs. 43%, p = 0.02) but the analysis was limited by small numbers in the ≥ 28 weeks cohort. The negative predictive value of no life‐limiting markers was 91%.ConclusionsIn our cohort, the presence of two life‐limiting ultrasound markers prior to 28 weeks was highly suggestive of a life‐limiting dysplasia, whereas the absence of life‐limiting markers was strongly associated with a non‐life‐limiting dysplasia throughout gestation. Nonetheless, individual markers had a poor predictive value of lethality, and a life‐limiting diagnosis ≥ 28 weeks is challenging based on ultrasound markers alone. This highlights the importance of integrating thorough sonography, genetic testing, and balanced parental counseling.

Publisher

Wiley

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3