Trisomy 2 in an acardiac twin in a triplet in-vitro fertilization pregnancy.
A case is reported of twin reversed arterial perfusion (TRAP) sequence in a triamniotic dichorionic triplet pregnancy conceived by in-vitro fertilization which was diagnosed at 25 weeks of gestation by colour Doppler sonography. It highlights the risk of monochorionicity-associated morbidity in multiple pregnancies obtained by assisted conception and stresses the importance of chorionicity determination by early ultrasound examination. Cytogenetic analysis of skin from the acardius showed trisomy 2 in all cells, whereas the karyotype in the monochorionic triplet was normal. This is an example of heterokaryotypic monozygotism where the chromosomal abnormality must have occurred during the early cleavage divisions. Aneuploidy as a possible aetiological factor of TRAP sequence is discussed.
D000328:Adult; D000782:Aneuploidy; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005307:Fertilization in Vitro; D006330:Heart Defects, Congenital; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D014310:Triplets; D014314:Trisomy; D014427:Twins; D016216:Ultrasonography, Prenatal