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Analysis of copy number variation by CMA in fetus with increased nuchal translucency / 中华妇产科杂志
Chinese Journal of Obstetrics and Gynecology ; (12): 671-676, 2018.
Article in Chinese | WPRIM | ID: wpr-707813
ABSTRACT
Objective To investigated the clinical value of chromosomal microarray analysis (CMA)in fetuses with increased nuchal translucency(NT). Methods Totally 101 cases out of 19261 singleton fetuses who underwent the first trimester(11-13+6 weeks)ultrasound examination from January 2015 to June 2017 at First Affiliated Hospital of Sun Yat-sen University were diagnosed with NT ≥2.5 mm and underwent invasive prenatal test for fetal karyotype and CMA. According to the combination of other ultrasound abnormalities,the cases were divided into isolated group(67.3%, 68 / 101)and complicated group(32.7%, 33/101). In addition, the cases were divided into 5 groups according to the thickness of NT,2.5-2.9 mm(borderline thickening;16.8%, 17/101), 3.0-3.4 mm(33.7%, 34/101), 3.5-4.4 mm(16.8%, 17/101),4.5-5.4 mm(15.8%, 16/101),and ≥5.5 mm(16.8%, 17/101). Chi square test was used to detect the different rates of other combined ultrasound abnormalities and abnormal chromosome between 5 groups. Results The median thickness of NT was 3.4 mm(2.5-8.5 mm). And 32 cases(31.7%, 32/101)had abnormal karyotype. There was a significant difference in the frequency of abnormal karyotype between the isolated and the complicated group(20.6% vs 54.5%, P<0.01). Among 69 cases(68.3%,69/101) of normal karyotype, 3 cases(4.3%, 3/69)were detected with pathogenic copy number variation(CNV) by CMA. Thirty-five cases with chromosomal abnormalities(include abnormal karyotype and pathogenic CNV), there was a significant difference in the frequency of chromosomal abnormalities between the isolated and the complicated group(23.5% vs 57.6%, P=0.001). The median age of pregnant women in 5 groups was 35 years(24-39 years),33 years(23-46 years),31 years(21-46 years),33 years (21-41 years) and 35 years (21-43 years). The rates of chromosomal abnormalities increased with the increase of NT thickness. There was significant difference in the incidence of associated chromosomal abnormalities among 5 groups(P<0.05). Comparative analysis within the 5 groups, the incidence of associated chromosomal abnormalities between NT 2.5-2.9 mm and ≥5.5 mm was significantly different (P=0.005), while the differences between the other groups were not significant(P>0.05). Conclusions There is a high risk of fetal chromosomal abnormalities in borderline NT thickening (2.5-2.9 mm)at advanced maternal age, but the pathogenic CNV is not detected. Chromosomal microdeletion or microduplication could be further detected in the NT thickening(≥3.0 mm)fetuses with normal karyotype by chromosome microarray analysis, while the positive rate is relatively low, and the variants of unknown significance might be detected.

Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Obstetrics and Gynecology Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Obstetrics and Gynecology Year: 2018 Type: Article