Importance of genetic evaluation and preconception counseling in a case of Prader-Willi/Angelman syndrome

Abstract

Objective: To report a case of prenatal diagnosis of Prader-Willi/Angelman
syndrome using microarray. A review of the literature is made and the importance
of preconceptional genetic counselling is highlighted. Case report: A 30-year-old
female patient G2P1001 underwent genetic screening ultrasound at 11-14 weeks,
in which increased nuchal sonolucence was detected in percentile greater than
99. She was taken to amniocentesis for microarray in amniotic fluid at 21 weeks
whose result was chromosomal deletion 15q11.2q13.1 compatible with Prader-Willi/
Angelman Syndrome. The patient was accompanied by maternal-fetal medicine
and was informed about the prenatal diagnosis. The patient chose to terminate the
pregnancy voluntarily. No anatomopathological study of the fetus was performed.
Conclusions: Although in Colombia sentence C-355 of 2006 establishes the three
grounds under which voluntary termination of pregnancy is legally available, it does
not emphasize the importance of carrying out an anatomopathological study of
fetuses with a prenatal diagnosis of a genetic pathology. This does not allow for a
genotype-phenotype correlation, nor does it allow parents to receive preconception
genetic counseling for future pregnancies.