title: Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound.
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.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospital, Basel, Switzerland. stercanli@uhbs.ch
authors.forename: S
authors.initials: S
authors.lastname: Tercanli
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: M S
authors.initials: MS
authors.lastname: Siebert
authors.forename: I
authors.initials: I
authors.lastname: Hösli
authors.forename: D V
authors.initials: DV
authors.lastname: Surbek
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D015193:Chorionic Villi Sampling; D019457:Chromosome Breakage; D005199:Fanconi Anemia / Q000000981:diagnostic imaging* / Q000196:embryology; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000150:complications; D008297:Male; D009333:Neck / Q000196:embryology*; D009447:Neuroblastoma / Q000150:complications; D011247:Pregnancy; D016216:Ultrasonography, Prenatal