Background: Introduced as an invasive method for biopsying the placenta, chorionic villus sampling remains the method of choice for establishing prenatal diagnosis during the first trimester of gestation. The procedure is addressed to women with high risk of conceiving a fetus with genetic disorders, while offering low morbidity and mortality.
Methods: Pregnant women with high genetic risk, between 11 and 14 weeks of pregnancy , were addressed to our institution after testing positive at first trimester combined test or after presenting age related risk for Down syndrome (maternal age >37 years) during genetic counseling. Side effects and complications were evaluated at 72 hours and at 14 days after the procedure.
Results: Between January 2013 and June 2015, in “Panait Sarbu” Hospital for Obstetrics and Gynecology, a total of 103 pregnant women with high pregnancy risk, median age of 34 years (23-42), underwent chorionic villus sampling for prenatal diagnosis. Following the procedure only three women presented contractions in the first 72 hours as side-effect and there were no miscarriage. After performing specific genetic tests on the samples obtained we recorded the following results: trisomy 21 was confirmed in four cases, trisomy 18 was discovered in two cases, one case was diagnosed with triploidy, one male and three female fetuses presented Duchenne muscular dystrophy.
Conclusions: Our results indicate that chorionic villus sampling has low miscarriage rate when performed under guided sonogram in a tertiary health institution and so far we haven’t registered false positive results. Abreviations: CVS – chorionic villus sampling, DMD – Duchenne muscular dystrophy, DNA – deoxyribonucleic acid, MMC – maternal blood contamination, OBGYN – obstetrics and gynecology, QF-PCR – quantitive fluorescence polymeraze chain reaction
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