Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation.
We describe six cases of trisomy 13 mosaicism detected at prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fetal mosaicism. In this case, a normal phenotype is a possible, but not a certain, outcome. Genetic counselling is not straightforward.
Delatycki
M B
MB
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
Pertile
M D
MD
Gardner
R J
RJ
D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D014314:Trisomy