16. Role of ultrasound markers for detection of fetal Trisomy 21

Le Hong Thinh, Nguyen Huu Du, Nguyen Hoang Thai, Nguyen Xuan My, Vo Ta Son

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Abstract

The purpose of this research was to investigate the role of various ultrasound markers in fetal morphology ultrasound in prenatal screening for Down syndrome (trisomy 21). The study subjects included two groups: the first group consisted of 118 pregnant women who underwent prenatal diagnostic testing using QF-PCR technique with results indicating trisomy 21, and the second group consisted of 2329 pregnant women who underwent prenatal testing with normal fetal results. The results are as follow Trisomy 21 Group (Ultrasound Findings): Absent nasal bone:16.1%, increased nuchal translucency: 11.9%, ventriculomegaly: 9.3%, echogenic bowel: 3.4%, duodenal atresia: 1.7% and cystic hygroma: 2.5%. Ultrasound markers with a high positive predictive value in screening for trisomy 21 fetuses were duodenal atresia (40.0%), echogenic bowel (33.3%), nasal bone aplasia (30.6%), cystic hygroma (21.4%), increased nuchal translucency (15.4%), cardiac abnormalities (15.2%), and ventriculomegaly (13.3%).

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References

1. Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides K H. First-Trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagnosis and Therapy. 2014; 35: 118 - 126.
2. Aagaard-Tillery KM, et al. Role of second-trimester genetic sonography after Down syndrome screening. Obstetrics and Gynecology, 2009; 114(6): 1189-1196.
3. Bromley B, Lieberman E, Shipp TD,Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med Off J Am Inst Ultrasound Med. 2002; 21(12): 1387-1394. doi:10.7863/jum.2002.21.12.1387.
4. Chaoui R, Korner H, Bommer C, et al. “Prenatal diagnosis of heart defects and associated chromosomal aberrations”, Ultraschall in der Medizin Journal. 1999; 20 (5), pp 177-184.
5. Chen CP. Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (II): RASophathy Disorders – Prenatal Ultrasound Findings and Genotype-phenotype Corelations. J Med Ultrasound. 2023; 31(1): 13-16.
6. Nyberg DA, Souter VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. Journal of Ultrasound in Medicine. 2001; 20(10): 1053-1063.
7. Simona Anzhei, Zhivko Zhekov, Boyan Georgiev. Increased Nuchal Translucency in Fetuses with Normal Karyotype. Open Acess Maced J Med Sci. 2024; 12(1): 83-87.
8. Xiaoqing Wu, et al. Chromosomal Abnormallities and Pregnancy Outcomes for Fetuses with Gastrointestinal Tract Obstructions. Frontiers in Pediatrics. 2022; 10:91813.
9. Hoàng Thị Ngọc Lan, Phạm Minh Đức, Đoàn Thị Kim Phượng và cs. Chẩn đoán di truyền với thai có tăng khoảng sáng sau gáy hoặc Cystic Hygroma vùng gáy bằng kỹ thuật SNP Array. Tạp chí Y học Việt Nam. 2023;528(7):97-104.
10. Nguyễn Thị Trang, Trần Danh Cường và cộng sự. Khảo sát một số chỉ số siêu âm đặc trưng trong sàng lọc hội chứng Down ở quý 1 và quý 2 thai kỳ tại Bệnh viện Phụ sản Trung ương. Tạp chí Nghiên cứu Y học. 2022; 155(7): 92-100.