Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy.
Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42-year-old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid.
Cartolano
R
R
I Clinica Ostetrico-Ginecologica, University of Milano, Italy.
Guerneri
S
S
Fogliani
R
R
Galimberti
A
A
Nicolini
U
U
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D001706:Biopsy; D015193:Chorionic Villi Sampling; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005312:Fetal Blood / Q000502:physiology; D005333:Fetus / Q000473:pathology*; D006801:Humans; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000196:embryology / Q000473:pathology*; D014314:Trisomy