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KMID : 1101620190300020078
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Perinatology
2019 Volume.30 No. 2 p.78 ~ p.82
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Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile
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Kwak Dong-Wook
Boo Hye-Yeon
Chang Eun-Hye
Ryu Hyun-Mee
Han You-Jung
Chung Jin-Hoon
Kim Moon-Young
Yang Eun-Jung
Yoo Hye-Ji
Kim Jin-Woo
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Abstract
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Objective: To evaluate the prevalence and distribution of chromosomal defects in Korean fetuses with nuchal translucency (NT) above the 99th percentile and to analyze them according to the degree of NT thickness.
Methods: This study retrospectively reviewed the medical records and ultrasonography images of pregnant women whose fetuses were diagnosed with NT ≥3.5 mm at 11 to 14 weeks of gestation and who underwent karyotyping between 2009 and 2015 at Cheil General Hospital, Seoul, Korea.
Results: Among 514 fetuses that met the inclusion criteria, 198 (38.5%) fetuses were confirmed as having chromosomal defects. 156 (30.4%) fetuses concerned autosomal aneuploidies, 27 (5.3%) sex-chromosome aneuploidies, and 1 (0.2%) triploidy. Besides, 11 fetuses (2.1%) were identified as pathogenic structural unbalanced chromosome aberration. When the study populations were divided based on NT thickness, 19.8% fetuses with a thickness of 3.5?4.4 mm, 33.0% of 4.5?5.4 mm, 50.3% of 5.5?6.4 mm, and 67.2% of 6.5 mm or more had chromosomal defects.
Conclusion: The incidence of chromosomal abnormalities of Korean fetuses with NT thickness above 99th percentile increases with NT thickness, and the prevalence and distribution based on NT thickness were very similar to those of Caucasian fetuses in previous reports.
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KEYWORD
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Aneuploidy, Pregnancy trimester, first, Nuchal translucency measurement, Karyotyping
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