Year: 2015
Type: conference-abstract
Abstract: We report on the prenatal cytogenetic and clinical findings in a monochorionic diamniotic twins discordant for Trisomy 18. Structural anomalies (cystic hygroma and a possible omphalocele) with discrepant crown rump length and nuchal translucency were identified in one of the twins at First Trimester Screening at 12 weeks and 3 days. The risk for Trisomy 21, Trisomy 18 and Trisomy 13 were 1:94, 1:46 and 1:12 respectively. The chorionic villus sampling showed a Level III mosaicism of 47,XY + 18[4]/46,XY[16]. Of 20 metaphases, 4 showed a male karyotype with Trisomy 18. The other 16 metaphases showed an apparently normal male karyotype. A repeat chromosome analysis performed via amniocentesis done showed Twin A to be 46 XY and Twin B to be 47 XY, T18. A repeat scan at 18 weeks and 4 days showed Twin A to be normal and Twin B to be smaller with a weight discrepancy of 36%. Twin B had a right pleural effusion measuring 5.7 mm with the right side of heart larger than left side and a VSD of 2.6 mm. Both hands were overlapping and there was a possible strawberry head and a marginal cord insertion. No arterial-arterial anastomosis was demonstrated. Doppler studies were normal and there was no significant difference in the deepest vertical pockets of amniotic fluid. The couple opted for a selective cord ligation at 20 weeks and 1 day. A fetal magnetic resonance imaging of the brain of the surviving twin was done at 23 weeks and 1 day which was normal. The fetus is well thus far and she is currently 28 weeks and 4 days pregnant at the time of writing of this article.
DOI: 10.1002/uog.15580
Institution: KK Women's and Children's Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2526214178