A CASE OF MOSAIC TRISOMY-2 DIAGNOSED AT AMNIOCENTESIS IN AN ABNORMAL FETUS AND CONFIRMED IN MULTIPLE FETAL TISSUES

Pseudomosaicism for trisomy 2 is a relatively common finding at amnioc entesis. However, genuine trisomy 2 mosaicism is extremely rare. As a result, very few cases have been described and little information is a vailable with which to counsel the parents of an affected fetus. We de scribe a case of mosaic trisomy 2 diagnosed at amniocentesis in a fetu s with multiple anomalies on ultrasound scan. Following termination of pregnancy, the fetus was found to have mild dysmorphic features, toge ther with an absent gall bladder, cystic left kidney, a 13th left rib and mild unilateral talipes. The presence of trisomy 2 cells was confi rmed by both standard cytogenetic analysis and fluorescent in-situ hyb ridisation techniques in multiple fetal tissues, as well as in the cor d and placenta.