First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
J M JohnsonD Chitayat

Abstract

We report the prenatal detection of increased nuchal translucency and decreased fetal movements, at 11 weeks of gestation, in a fetus at risk for Zellweger syndrome. The diagnosis of Zellweger syndrome was confirmed by metabolic studies on cultured chorionic villus sampling (CVS) cells and the pregnancy was terminated. The couple's subsequent pregnancy was monitored using the same method. In this pregnancy the nuchal translucency measured at 12 weeks' gestation was normal, the fetus was active, and biochemical studies using CVS and amniocentesis confirmed normal results. We believe this to be the first reported case of Zellweger syndrome followed prenatally in which an increased nuchal translucency and fetal hypokinesia were detected in the first trimester. During the pregnancy with the affected child the maternal serum screen (MSS) showed low estriol level. We believe this to be the second report of a low estriol level on MSS in a pregnancy affected with Zellweger syndrome.

References

Jan 1, 1989·European Journal of Obstetrics, Gynecology, and Reproductive Biology·N P JørgensenK Lindström
Mar 1, 1980·British Journal of Obstetrics and Gynaecology·L G Van Dongen, E G Goudie
Jul 1, 1996·Hormone Research·M PeterW G Sippell
Mar 17, 1997·American Journal of Medical Genetics·J HyettK Nicolaides
May 1, 1997·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J HyettK H Nicolaides
Dec 31, 1997·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·N MontenegroH Barros
Dec 4, 1997·The New England Journal of Medicine·P TaipaleP Ylöstalo
Feb 26, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·I M HösliW Holzgreve
Apr 29, 1998·Current Opinion in Neurology·H W Moser
Jul 23, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·C M BilardoO P Bleker
May 26, 1999·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·I M de GraafC M Bilardo
Sep 14, 1999·American Journal of Medical Genetics·R J SnijdersK H Nicolaides
Feb 7, 2001·The Australian & New Zealand Journal of Obstetrics & Gynaecology·J E CraigI A Glass

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Citations

Jul 20, 2010·Clinics in Laboratory Medicine·Laura Goetzl
Feb 25, 2009·Prenatal Diagnosis·Ants ToiSusan Blaser
Dec 27, 2005·Prenatal Diagnosis·Pierangela De BiasioMirella Filocamo
Feb 17, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jiri Sonek
Nov 21, 2002·Current Opinion in Obstetrics & Gynecology·Rosalinde Snijders, Eric Smith
Mar 15, 2011·The Journal of Obstetrics and Gynaecology Research·Tomoyuki KuwataMitsuaki Suzuki

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