Article Sidebar

PDF
Date Published: 06/06/2026
Abstract Views: 32
Views PDF: 17
DOI: https://doi.org/10.51298/vmj.v561i1.18095
Issue
Vol. 561 No. 1 (2026)
Section
Các bài báo
How to Cite
Đinh , T. L., Nguyễn , T. Đức, & Mai , T. H. (2026). PRENATAL DIAGNOSIS OF CHROMOSOMAL ABERRATIONS IN FETUSES WITH SONOGRAPHIC MORPHOLOGICAL DEFECTS: A SIX-YEAR EXPERIENCE AT A VIETNAMESE TERTIARY REFERRAL CENTER. Vietnam Medical Journal, 561(1). https://doi.org/10.51298/vmj.v561i1.18095

PRENATAL DIAGNOSIS OF CHROMOSOMAL ABERRATIONS IN FETUSES WITH SONOGRAPHIC MORPHOLOGICAL DEFECTS: A SIX-YEAR EXPERIENCE AT A VIETNAMESE TERTIARY REFERRAL CENTER

Thúy Linh Đinh 1,, Tài Đức Nguyễn 1, Trọng Hưng Mai 1
1 Hanoi Obstetrics and Pediatrics Hospital

Main Article Content

Abstract

Background: Prenatal ultrasound is a crucial tool for detecting fetal anomalies and guiding chromosomal abnormality diagnosis. This study aimed to determine the rate of chromosomal abnormalities in fetuses with ultrasound-detected anomalies, analyze by organ system, and compare isolated versus multiple anomalies. Methods: A retrospective descriptive study was conducted on 1,770 pregnant women whose fetuses had ultrasound abnormalities and underwent amniocentesis for karyotyping at Hanoi Obstetrics and Gynecology Hospital from January 2017 to December 2022. Anomalies were classified by organ system: cardiovascular, central nervous system, urinary, skeletal, gastrointestinal, and soft markers. Results: The overall chromosomal abnormality rate was 12.7% (224/1,770). The highest rate was observed in multiple anomalies (35.2%), followed by cystic hygroma/hydrops (22.7%), urinary system (19.0%), cardiovascular (17.3%), central nervous system (14.9%), and increased nuchal translucency (12.8%). Among soft markers, absent/hypoplastic nasal bone had the highest abnormality rate (37.5%), followed by echogenic bowel (35.1%) and choroid plexus cyst (23.6%). Trisomy 21 and Trisomy 18 were the most common chromosomal abnormalities. Atrioventricular septal defect showed a very high abnormality rate (66.7%). Conclusions: Ultrasound anomalies are important indications for prenatal invasive diagnosis. Multiple anomalies, cystic hygroma, and certain soft markers carry high risks for chromosomal abnormalities. These findings provide valuable data for prenatal genetic counseling in Vietnam.

Article Details

Keywords

ultrasound anomalies, chromosomal abnormalities, amniocentesis, prenatal diagnosis, soft markers

References

1. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(1):7-15.
2. Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks. Prenat Diagn. 2011;31(1):90-102.
3. Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41(3):247-261.
4. Breathnach FM, Malone FD, Lambert-Messerlian G, et al. First- and second-trimester screening: detection of aneuploidies other than Down syndrome. Obstet Gynecol. 2007;110(3):651-657.
5. Staebler M, Donner C, Van Regemorter N, et al. Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound? Prenat Diagn. 2005;25(7):567-573.
6. Papp C, Bán Z, Szigeti Z, Csaba A, Lázár L, Papp Z. Prenatal diagnosis of chromosomal abnormalities at invasive diagnosis. Prenat Diagn. 2008;28(4):324-328.
7. Paladini D, Tartaglione A, Agangi A, et al. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol. 2000;15(2):104-108.
8. Sonek JD. Nasal bone evaluation with ultrasonography: a marker for fetal aneuploidy. Ultrasound Obstet Gynecol. 2003;22(4):323-330.
9. Slotnick RN, Abuhamad AZ. Prognostic implications of fetal echogenic bowel. Lancet. 1996;347(9008):85-87.