Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound.
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.
Tercanli
S
S
Department of Obstetrics and Gynecology, University Hospital, Basel, Switzerland. stercanli@uhbs.ch
Miny
P
P
Siebert
M S
MS
Hösli
I
I
Surbek
D V
DV
Holzgreve
W
W
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