title: Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: I M
authors.initials: IM
authors.lastname: de Graaf
authors.forename: E
authors.initials: E
authors.lastname: Pajkrt
authors.forename: M
authors.initials: M
authors.lastname: Keessen
authors.forename: N J
authors.initials: NJ
authors.lastname: Leschot
authors.forename: C M
authors.initials: CM
authors.lastname: Bilardo
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D002585:Cesarean Section; D006063:Chorionic Gonadotropin / Q000097:blood; D004964:Estriol / Q000097:blood; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D000509:alpha-Fetoproteins / Q000032:analysis*
chemical_list: D015415:Biomarkers; D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol