Recently many reports have been published on the use of intracytoplasmic sperm injection (ICSI) and the increased risk of
congenital major malformations or syndromes. We present three cases with Goldenhar syndrome (one of them a twin pair) and
one case with Rubinstein-Taybi syndrome (RTS), also a twin pair. All four female cases are derived from ICSI. Goldenhar syndrome
with ICSI pregnancy has been reported previously but as far as we know, RTS has not been described in association with assisted
reproductive technology (ART). The four new cases reported herein will contribute to a better understanding whether ICSI pregnancy
increases congenital malformations.
Key words Congenital malformation - Goldenhar syndrome - Intracytoplasmic sperm injection - Rubinstein-Taybi syndrome - Twin pregnancy