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SOME GENETIC ABNORMALITIES IN FETAL CHORIONIC TISSUE SAMPLES TAKEN FROM PREGNANT WOMEN AT HIGH RISK OF GIVING BIRTH WITH CONGENITAL ANOMALIES AT HANOI OBSTETRICS AND GYNECOLOGY HOSPITAL
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Abstract
Objectives: To describe the characteristics of certain genetic abnormalities in fetal chorionic tissue samples taken from pregnant women at high risk of giving birth with congenital anomalies. Methods: A prospective, cross-sectional descriptive study on 37 singleton pregnancies undergoing chorionic villus sampling at Hanoi Obstetrics and Gynecology Hospital between January 2022 and May 2023. Chorionic tissue samples were sent to laboratories for karyotyping or molecular analysis. Results: All 37 cases had sufficient chorionic tissue samples to perform genetic tests. The primary indication for chorionic villus sampling were high-risk results from first trimester screening non-invasive prenatal testing (NIPT)s (45.9%), family history of recessive inherited disease (27%), and increased nuchal translucency (19%). Out of 26 genetic abnormalities, trisomy 21 accounted for 27%, and thalassemia major for 23.1%. Other common abnormalities were trisomy 18 (15.4%) and 45.X (11.5%). Conclusion: Chorionic villus sampling remains a dependable technique for prenatal diagnosis in the early stages of pregnancy.
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Keywords
Chorionic tissue sample, Chorionic villus sampling, Prenatal diagnosis
References
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