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Routine screening for fetal limb abnormalities in the first trimester
Author(s) -
Liao YiMei,
Li Shengli,
Luo Guoyang,
Wen Huaxuan,
Ouyang Shuyuan,
Chen Congying,
Yao Yuan,
Bi Jingru,
Tian Xiaoxian
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4724
Subject(s) - medicine , fetus , syndactyly , dysplasia , pregnancy , arthrogryposis , obstetrics , prenatal diagnosis , second trimester , anatomy , biology , genetics
Objective We aim to determine the accuracy of first‐trimester ultrasonography in detecting fetal limb abnormalities. Methods This is a retrospective study of all women undergoing fetal nuchal translucency (NT) assessment and detailed fetal anatomic survey in the first trimester at a single tertiary‐care referral center in China. Fetal anatomy scans were repeated in the second trimester. Detection of fetal limb abnormalities was compared between first and second trimester anatomy scans and confirmed at delivery or at autopsy. Results Analyzed were 9438 fetuses from 9197 women (241 twin pairs). The incidence of fetal limb abnormalities was 0.38% (36/9438). Of these, 28 (77.8%) were diagnosed prenatally: 23 (63.9%) on first trimester scan and 5 (13.9%) on second trimester scan. Limb reduction defects (usually transverse limb deficiencies) were the most common limb defects identified in the first trimester ( n = 12), followed by clubfoot ( n = 4), skeletal dysplasia ( n = 3), sirenomelia ( n = 1), limb dysplasia ( n = 1), malposition ( n = 1), and syndactyly ( n = 1). Nine fetuses with isolated limb abnormalities had normal NT, while 74.1% (20/27) of limb abnormalities that were associated with other abnormalities had increased NT. Conclusions This study demonstrates that the majority of limb abnormalities detected prenatally [23/28 (82%)] can be identified in the first trimester, especially major limb defects; however, our numbers are small and still need larger cases for further investigation. © 2015 John Wiley & Sons, Ltd.