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Detection of Jarcho–Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three‐dimensional ultrasound
Author(s) -
Hull Andrew D.,
James Gina,
Pretorius Dolores H.
Publication year - 2001
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.67
Subject(s) - medicine , gestation , ultrasound , prenatal diagnosis , obstetrics , fetus , pregnancy , radiology , genetics , biology
Jarcho–Levin syndrome (JLS) or spondylothoracic dysotosis causes early newborn death from respiratory insufficiency. Prenatal diagnosis is possible using fetal ultrasound, but requires a high level of suspicion and definitive diagnosis may be delayed well into the second trimester. We present a case in which a combination of three‐dimensional ultrasound and measurement of nuchal translucency thickness allowed successful detection of recurrent JLS at 12 weeks' gestation. Copyright © 2001 John Wiley & Sons, Ltd.