Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks.
We describe a case of trisomy 8 mosaicism in which fetal chromosome analysis was prompted by ultrasound abnormalities, i.e., hygroma colli and dilatation of the renal pelves. Chorionic villus sampling (CVS) was performed, with a false-negative result on direct karyotype analysis, although cultured trophoblasts revealed trisomy 8 mosaicism. Fetal autopsy confirmed the abnormalities found on ultrasound examinations and fetal tissue examination showed different levels of trisomy 8 mosaicism. To our knowledge, this is the first prenatal diagnosis of trisomy 8 made on ultrasound findings.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D015193:Chorionic Villi Sampling; D002898:Chromosomes, Human, Pair 8; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy; D016216:Ultrasonography, Prenatal