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Fanconi anemia associated with increased nuchal translucency detected by first‐trimester ultrasound
Author(s) -
Tercanli S.,
Miny P.,
Siebert M. S.,
Hösli I.,
Surbek D. V.,
Holzgreve W.
Publication year - 2001
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.1469-0705.2001.00321.x
Subject(s) - medicine , gestation , fetus , chorionic villus sampling , obstetrics , prenatal diagnosis , anemia , fanconi anemia , cisterna magna , gynecology , pregnancy , pathology , genetics , gene , dna repair , biology , cerebrospinal fluid
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. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology