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Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome
Author(s) -
de Graaf I. M.,
Pajkrt E.,
Keessen M.,
Leschot N. J.,
Bilardo C. M.
Publication year - 1999
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1999.13040268.x
Subject(s) - medicine , estriol , fetus , zellweger syndrome , obstetrics , gestation , ultrasound , human chorionic gonadotropin , pericardial effusion , down syndrome , gynecology , pregnancy , endocrinology , radiology , hormone , peroxisome , receptor , biology , genetics , psychiatry
We present a case of a fetus in which an enlarged nuchal translucency was detected at 12 weeks' gestation. The karyotype was normal. Subsequent ultrasound examination showed no obvious fetal abnormalities apart from a mild pericardial effusion. Serum screening revealed very low concentrations of estriol and human chorionic gonadotropin. After birth the diagnosis of Zellweger syndrome was made. Nuchal translucency screening, estriol level identification and detailed ultrasound scanning may help to identify fetuses affected by this syndrome. Copyright © 1999 International Society of Ultrasound in Obstetrics and Gynecology