Closely Monitored Successful Full-Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review.

Authors

Masako Ueki, Motoki Ono, Motoko Kamiya, Yusuke Yokokawa, Yasuhiro Tanaka, Ryoichi Asaka, Chiho Fuseya, Norihiko Kikuchi, Tanri Shiozawa, Tsutomu Miyamoto

Published in

The journal of obstetrics and gynaecology research. Volume 52. Issue 7. Pages e70409.

Abstract

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare skeletal dysplasia caused by heterozygous pathogenic variants in COL2A1, with short-trunk stature and respiratory compromise during pregnancy. We report a 30-year-old primigravida with SEDC who achieved full-term delivery under multidisciplinary management. Fetal ultrasound findings suggested that the fetus also had SEDC. She was admitted at 33 weeks for respiratory monitoring. At 34 weeks, asymptomatic nocturnal SpO₂ desaturation to 91% was detected; pulmonary embolism and cardiac dysfunction were excluded. Low-flow nocturnal oxygen supplementation (1 L/min) maintained SpO₂ above 96%. An elective cesarean section was performed at 37 weeks for cephalopelvic disproportion, delivering a boy who required temporary ventilatory support and was diagnosed with SEDC through radiographic assessment. This case highlights the utility of maternal genetic diagnosis in anticipating fetal skeletal dysplasia and demonstrates that with careful respiratory surveillance and perinatal planning, expectant management to term is feasible even in cases of maternal SEDC.

PMID:
42455566
Bibliographic data and abstract were imported from PubMed on 15 Jul 2026.

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