Detection of Jarcho–Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three‐dimensional ultrasound | Zendy

Hull Andrew D. | Zendy; James Gina | Zendy; Pretorius Dolores H. | Zendy

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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.

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