Lekárska genetika a diagnostika 2/2025
Termination of pregnancy due to genetic indication in the region of Eastern Bohemia
Elective termination of pregnancy for fetal anomaly (ETOPFA) is one of the fundamental rights of women. It can be undertaken up to 11 weeks and 6 days of gestation based solely on the woman‘s decision; beyond that point, it is permitted only with a medical indication. The indication is based on morphological fetal malformation, genetic defect or teratogenic exposure of the fetus. This retrospective study analyses data from three years (2022-2024) from the prenatal centre PRENET – Laboratoře lékařské genetiky, s.r.o. in Pardubice, which is the largest provider of prenatal genetic care in the Pardubice Region. Out of a total of 2323 ultrasound-examined pregnant clients, 64 women underwent ETOPFA for genetic indication, 51.6% of cases were indicated on the basis of laboratory proven genetic defects, 34.4% due to morphological fetal anomalies and 14% due to exposure of the fetus to teratogenic substances. The most common genetic diagnosis was trisomy of chromosome 21. ETOPFA was most often performed by 14 weeks and 6 days of gestational age (57.8%), a time frame that allowed for a less invasive and less traumatizing procedure. The study also highlights the presence of environmental and socioeconomic factors in the region that may influence the spectrum of indications and the need for standardization of data collection of ETOPFA in the Czech Republic.
Keywords: termination of pregnancy, TOPFA, ETOPFA, congenital defect, chromosomal anomaly, prenatal diagnostics
