Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Lili Li; Xiaofei Jin; Suna Liu; Hui Fan

doi:10.1002/jcu.23673

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

J Clin Ultrasound. 2024 Apr 1. doi: 10.1002/jcu.23673. Online ahead of print.

Authors

Lili Li¹, Xiaofei Jin¹, Suna Liu², Hui Fan¹

Affiliations

¹ Department of Ultrasound, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
² Department of Neonatal Disease Screening, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

PMID: 38561934
DOI: 10.1002/jcu.23673

Abstract

Objective: To analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD).

Methods: Clinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021.

Results: A total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28/40), with 92.8% (26/28) being single-gene disorders due to mutations in FGFR3, COL1A1, COL1A2, EVC2, FLNB, LBR, and TRPV4 genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3 weeks, respectively (p < 0.05), with no significant difference in femoral shortening between the three groups (p > 0.05). Of the OI cases, 5 out of 12 had a family history.

Conclusion: Short limb deformity is the most prevalent phenotype of SD. When fetal SD is suspected, detailed ultrasound screening should be conducted, combined with GA at initial diagnosis, family history, and molecular evidence, to facilitate more accurate diagnosis and enhance prenatal counseling and perinatal management.

Keywords: prenatal diagnosis; prenatal ultrasound; skeletal dysplasia.