Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center.

We summarized our five-year chorionic villus sampling (CVS) experience with indications, detected chromosomal abnormalities and pregnancy outcomes. Materials and

Methods

This retrospective study examined 552 patients underwent CVS for prenatal diagnosis between 2014 and 2018.

Results

The most frequent patients undergoing CVS indications were abnormal aneuploidy screening results, increased nuchal translucency, and cystic hygroma/edema. Of 552 CVS, 385 were normal, 141 abnormal. Eight were contaminated with maternal cells, 4 were mosaics, in 12 the culture failed, and in 2 there was inadequate sampling. The most frequent chromosomal abnormalities were trisomy 21, trisomy 18 and 45,X. Of 246 followed pregnancies, there were 165 live-births (67,1%), 58 pregnancy terminations (23,6%), and 23 pregnancy losses (9,3%). There were 5 procedure-related losses (2%), 3 of which were chromosomally normal.

Conclusion

Although significant advances have been made in noninvasive methods such as NIPT, CVS is still a reliable technique for cytogenetic diagnosis in early gestation.