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[Analysis of copy number variation by CMA in fetus with increased nuchal translucency].
Zhonghua Fu Chan Ke Za Zhi. 2018 Oct 25; 53(10):671-676.ZF

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 19 261 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.

Authors+Show Affiliations

Department of Ultrasound, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

30369122

Citation

Du, L, et al. "[Analysis of Copy Number Variation By CMA in Fetus With Increased Nuchal Translucency]." Zhonghua Fu Chan Ke Za Zhi, vol. 53, no. 10, 2018, pp. 671-676.
Du L, Xie HN, Zheng J, et al. [Analysis of copy number variation by CMA in fetus with increased nuchal translucency]. Zhonghua Fu Chan Ke Za Zhi. 2018;53(10):671-676.
Du, L., Xie, H. N., Zheng, J., & He, M. (2018). [Analysis of copy number variation by CMA in fetus with increased nuchal translucency]. Zhonghua Fu Chan Ke Za Zhi, 53(10), 671-676. https://doi.org/10.3760/cma.j.issn.0529-567x.2018.10.004
Du L, et al. [Analysis of Copy Number Variation By CMA in Fetus With Increased Nuchal Translucency]. Zhonghua Fu Chan Ke Za Zhi. 2018 Oct 25;53(10):671-676. PubMed PMID: 30369122.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Analysis of copy number variation by CMA in fetus with increased nuchal translucency]. AU - Du,L, AU - Xie,H N, AU - Zheng,J, AU - He,M, PY - 2018/10/30/entrez PY - 2018/10/30/pubmed PY - 2018/11/22/medline KW - DNA copy number variations KW - Microarray analysis KW - Nuchal translucency measurement KW - Ultrasonography, prenatal SP - 671 EP - 676 JF - Zhonghua fu chan ke za zhi JO - Zhonghua Fu Chan Ke Za Zhi VL - 53 IS - 10 N2 - Objective: To investigated the clinical value of chromosomal microarray analysis (CMA) in fetuses with increased nuchal translucency (NT) . Methods: Totally 101 cases out of 19 261 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. SN - 0529-567X UR - https://www.unboundmedicine.com/medline/citation/30369122/[Analysis_of_copy_number_variation_by_CMA_in_fetus_with_increased_nuchal_translucency]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&amp;issn=0529-567X&amp;year=2018&amp;vol=53&amp;issue=10&amp;fpage=671 DB - PRIME DP - Unbound Medicine ER -