Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
S TercanliW Holzgreve

Abstract

Increased nuchal translucency between 10 and 14 weeks of gestation has now been established as a marker for chromosomal defects in several large-scale studies. In addition, a growing number of structural defects and some rare genetic syndromes have been identified in association with this marker. We describe a case of a fetus with increased nuchal translucency at 12 weeks of gestation, in which second-trimester evaluation by ultrasound showed an enlarged cisterna magna, a ventricular septal defect and moderate signs of dysmorphia. Karyotyping by chorionic villus sampling revealed a high rate of chromosomal breaks. The diagnosis of Fanconi anemia with early onset was confirmed following the development of severe postnatal anemia 2 months after birth.

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Citations

Jan 9, 2003·Cancer·Blanche P Alter
Dec 31, 2003·Cancer Genetics and Cytogenetics·Sameer Bakhshi, Merlin H Hamre
Aug 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A P SoukaK H Nicolaides
Jul 14, 2006·The New England Journal of Medicine·Dick OepkesUNKNOWN DIAMOND Study Group
Jul 20, 2010·Clinics in Laboratory Medicine·J Sonek, K Nicolaides
Feb 17, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jiri Sonek
Apr 23, 2005·American Journal of Obstetrics and Gynecology·Athena P SoukaKypros H Nicolaides
Aug 6, 2004·American Journal of Obstetrics and Gynecology·Kypros H Nicolaides
Dec 16, 2005·Fetal Diagnosis and Therapy·Astrid BechtoldHolger Hoehn
Nov 21, 2002·Current Opinion in Obstetrics & Gynecology·Rosalinde Snijders, Eric Smith
May 11, 2004·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R MaymonA Herman
Jul 11, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Megan D MaxwellMauricio De Castro
Aug 19, 2021·Biomedical Reports·Olga María MorenoAdriana Rojas

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