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

被引：5

作者：

Ozturk, Filiz Halici ^{[1
]}

Ocal, Fatma Doga ^{[1
]}

Erol, Seyit Ahmet ^{[1
]}

Yakut, Kadriye ^{[1
]}

Ozturk, Merve ^{[1
]}

Oguz, Yuksel ^{[1
]}

Cakar, Esra Sukran ^{[2
]}

Celen, Sevki ^{[1
]}

Caglar, Ali Turhan ^{[1
]}

机构：

[1] Ankara City Hosp, Minist Hlth, Dept Obstet & Gynecol, TR-06105 Ankara, Turkey

[2] Ankara City Hosp, Minist Hlth, Dept Med Genet, Ankara, Turkey

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2021年 / 40卷 / 04期

关键词：

Chorionic villus sampling (CVS); genetic diagnosis; chromosomal abnormalities; fetal loss; indications; PRENATAL-DIAGNOSIS; MATERNAL AGE; TRISOMIES; 21; ABNORMALITIES; AMNIOCENTESIS;

D O I：

10.1080/15513815.2019.1707919

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Objective: 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.

引用

页码：281 / 289

页数：9

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