{"title":"Prenatal and postnatal imaging for early detection of sirenomelia: A case study.","authors":"Mengxia Yao, Yin Wang, Yanying Liu","doi":"10.1002/jcu.23849","DOIUrl":null,"url":null,"abstract":"<p><p>Sirenomelia is a rare congenital caudal abnormality. We applied two-dimensional, three-dimensional, and color Doppler ultrasound to diagnose a fetus with sirenomelia at 12 + 6 weeks. The fetus exhibited on ultrasound fused lower limbs, two tibiae in lower legs, no fibulae, knees in retroflexion, pelvic hypoplasia, hypoplasia of the lower lumbar vertebrae and coccyx, bilateral renal agenesis, no bladder, and a single umbilical artery. The postnatal X-ray revealed a fetus with two femurs, two tibiae, and no fibula. The results of chorionic villus aspiration indicated that the fetus was male with a normal karyotype (46, XY), and the microarray results were normal.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Ultrasound","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/jcu.23849","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ACOUSTICS","Score":null,"Total":0}
引用次数: 0
Abstract
Sirenomelia is a rare congenital caudal abnormality. We applied two-dimensional, three-dimensional, and color Doppler ultrasound to diagnose a fetus with sirenomelia at 12 + 6 weeks. The fetus exhibited on ultrasound fused lower limbs, two tibiae in lower legs, no fibulae, knees in retroflexion, pelvic hypoplasia, hypoplasia of the lower lumbar vertebrae and coccyx, bilateral renal agenesis, no bladder, and a single umbilical artery. The postnatal X-ray revealed a fetus with two femurs, two tibiae, and no fibula. The results of chorionic villus aspiration indicated that the fetus was male with a normal karyotype (46, XY), and the microarray results were normal.
脐带畸形是一种罕见的先天性尾椎畸形。我们应用二维、三维和彩色多普勒超声诊断了一名在 12+6 周时患有脐带畸形的胎儿。该胎儿的超声表现为下肢融合、小腿有两根胫骨、无腓骨、膝关节后屈、骨盆发育不良、下腰椎和尾骨发育不良、双肾发育不全、无膀胱、单脐动脉。出生后的 X 光片显示，胎儿有两个股骨、两个胫骨，没有腓骨。绒毛穿刺结果显示胎儿为男性，核型正常（46，XY），芯片结果也正常。
期刊介绍：
The Journal of Clinical Ultrasound (JCU) is an international journal dedicated to the worldwide dissemination of scientific information on diagnostic and therapeutic applications of medical sonography.
The scope of the journal includes--but is not limited to--the following areas: sonography of the gastrointestinal tract, genitourinary tract, vascular system, nervous system, head and neck, chest, breast, musculoskeletal system, and other superficial structures; Doppler applications; obstetric and pediatric applications; and interventional sonography. Studies comparing sonography with other imaging modalities are encouraged, as are studies evaluating the economic impact of sonography. Also within the journal''s scope are innovations and improvements in instrumentation and examination techniques and the use of contrast agents.
JCU publishes original research articles, case reports, pictorial essays, technical notes, and letters to the editor. The journal is also dedicated to being an educational resource for its readers, through the publication of review articles and various scientific contributions from members of the editorial board and other world-renowned experts in sonography.
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