We present the rare case of a 42-year-old Caucasian female which was investigated in our service at 16 weeks of gestation for high risk of Down’s syndrome following a prenatal screening test.
Before amniocentesis, the control ultrasound discovered the presence of a cleft palate. Samples of maternal blood and amniotic fluid were obtained in order to determine if the fetus had Down’s syndrome or another genetic disorder.
Analysis of the amniotic fluid trough amniocyte cultures identified the presence of a chromosome 13 duplication and established the diagnosis of Patau syndrome.
