Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025
Genetic Abnormalities After Chorionic Villus Sampling of Pregnant Women at Fetal Intervention Center of Hanoi Obstetrics and Gynecology Hospital.
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Thuong Phan Thi Huyen, Canh Than Thi Thu, Huong Ngo Thi, Hai Nguyen Vu, Anh Nguyen Ngoc, Tuan Le Ho Minh, Dat Do Tuan
Аннотация
BACKGROUND: Chorionic villus sampling (CVS) refers to a procedure in which samples of the placenta are obtained for prenatal genetic diagnosis, generally in the first trimester after 10 weeks of gestation.
OBJECTIVE: The purpose of this study was to evaluate the effectiveness of chorionic villus sampling technique in prenatal diagnosis at Phu San Ha Noi hospital.
METHODS: 96 pregnants who underwent chorionic villus sampling from January 2022 to December 2024 were studied. The indications for CVS include: Abnormal results of aneuploidy screening, structural anomaly on first-trimester ultrasound examination, parent is a carrier of a balanced translocation, other structural chromosome disorder, monogenic disorder or previous pregnancy with a chromosome abnormality or genetic disorder. The samples were obtained transabdominally, cultured and analysed using cytogenetic and/or molecular techniques when needed. QF-PCR test was applied first in the cultured samples to exclude maternal cell contamination.
RESULTS: Among 96 women underwent CVS, there were 34 cases have high-risk results of aneuploidy screening. All 33 women with high-risk NIPT test had the CVS results consistent with the screening test. 46 cases had parents carring a balanced translocation, structural chromosome disorder or monogenic disorders. The remaining 16 women didn't have any aneuploidy screening test and had morphological abnormalities on ultrasound. The overall abnormality detection rate was 75%. There were no cases of miscarriage, amniotic fluid leakage, premature rupture of membranes or infection.
CONCLUSIONS: CVS is an effective technique in prenatal diagnosis. It can be carried from 10 weeks of gestation.
OBJECTIVE: The purpose of this study was to evaluate the effectiveness of chorionic villus sampling technique in prenatal diagnosis at Phu San Ha Noi hospital.
METHODS: 96 pregnants who underwent chorionic villus sampling from January 2022 to December 2024 were studied. The indications for CVS include: Abnormal results of aneuploidy screening, structural anomaly on first-trimester ultrasound examination, parent is a carrier of a balanced translocation, other structural chromosome disorder, monogenic disorder or previous pregnancy with a chromosome abnormality or genetic disorder. The samples were obtained transabdominally, cultured and analysed using cytogenetic and/or molecular techniques when needed. QF-PCR test was applied first in the cultured samples to exclude maternal cell contamination.
RESULTS: Among 96 women underwent CVS, there were 34 cases have high-risk results of aneuploidy screening. All 33 women with high-risk NIPT test had the CVS results consistent with the screening test. 46 cases had parents carring a balanced translocation, structural chromosome disorder or monogenic disorders. The remaining 16 women didn't have any aneuploidy screening test and had morphological abnormalities on ultrasound. The overall abnormality detection rate was 75%. There were no cases of miscarriage, amniotic fluid leakage, premature rupture of membranes or infection.
CONCLUSIONS: CVS is an effective technique in prenatal diagnosis. It can be carried from 10 weeks of gestation.