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[Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings].
Zhonghua Fu Chan Ke Za Zhi. 2018 Jul 25; 53(7):464-470.ZF

Abstract

Objective:

To investigate the value of single nucleotide polymorphism array (SNP-array) for fetuses with abnormal ultrasound findings. Method: A total of 904 fetuses with abnormal ultrasound findings were enrolled in this study from May 2015 to November 2017, and 434 (48.0%) cases received conventional karyotyping analysis at the same time. According to different abnormal ultrasound category, 904 cases were divided into 5 groups: 280 cases (31.0%) in single system structural anomalies, 31 cases (3.4%) in multiple system structural anomalies, 331 cases (36.6%) in single ultrasound soft marker abnormalities without structural anomalies, 107 cases (11.8%) in multiple soft marker abnormalities and 155 cases (17.2%) in structural abnormalities combined with soft markers abnormalities. Abnormal detection rates by SNP-array among 5 groups of abnormal ultrasound category were calculated. Result: (1) Total SNP-array results: 171 (19.0%) cases out of 904 cases analyzed by SNP-array, presented chromosomal abnormalities. Pathogenic copy number variants were detected in 27 cases (3.0%) and variants of unknown significance were detected in 81 cases (7.8%) . In addition, 7 cases (26.0%) were found with new mutation by parental validation. (2) SNP-array of 5 groups: among the 5 groups of abnormal ultrasound category, chromosomal abnormalities were identified by SNP-array in 19.3% (54/280) with single system structural abnormalities, 25.8% (8/31) with multiple system structural abnormalities, 13.9% (46/331) with single nonstructural anomalies, 19.6% (21/107) with multiple nonstructural anomalies and 27.1% (42/155) with structural abnormalities combined with nonstructural anomalies. The differences were significant (P=0.010) . No chromosome abnormalities was identified in single soft marker abnormalities, such as choroid plexus cysts, echogenic foci in the heart, single umbilical artery and pyelectasis. (3) Chromosomal abnormalities: the abnormal detection rate of aneuploidy chromosomal abnormalities by SNP-array increased with the maternal age, decreased with the gestational weeks (all P<0.05) . However, the pathogenic copy number variants and variants of unknown significance rates did not change with maternal age and gestational weeks (all P>0.05) . (4) SNP-array and karyotyping: 434 cases were analyzed by conventional karyotyping and SNP-array respectively, 10.3% (43/419) of which presented chromosomal abnormalities by conventional karyotyping and 18.7% (81/434) of which presented chromosomal abnormalities by SNP-array.

Conclusions:

SNP-array could be a useful genetic analysis method in prenatal diagnosis for fetuses with abnormal ultrasound findings. For different abnormal ultrasound category, SNP-array has different detection rate. Compared with conventional karyotyping analysis, SNP-array can improve the detection rates for chromosomal abnormalities and find the chromosome abnormalities which can't be detected by conventional karyotyping analysis. In clinical prenatal genetic counseling, SNP-array should be selected rationally in combination with the various abnormal ultrasound category.

Authors+Show Affiliations

Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

30078256

Citation

Guo, Y L., et al. "[Application of Single Nucleotide Polymorphism Array in Prenatal Diagnosis for Fetuses With Abnormal Ultrasound Findings]." Zhonghua Fu Chan Ke Za Zhi, vol. 53, no. 7, 2018, pp. 464-470.
Guo YL, Wang L, Xue SW, et al. [Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings]. Zhonghua Fu Chan Ke Za Zhi. 2018;53(7):464-470.
Guo, Y. L., Wang, L., Xue, S. W., Qu, S. Z., Yang, J., Xu, H., Bai, Z. X., Liu, N., & Kong, X. D. (2018). [Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings]. Zhonghua Fu Chan Ke Za Zhi, 53(7), 464-470. https://doi.org/10.3760/cma.j.issn.0529-567x.2018.07.005
Guo YL, et al. [Application of Single Nucleotide Polymorphism Array in Prenatal Diagnosis for Fetuses With Abnormal Ultrasound Findings]. Zhonghua Fu Chan Ke Za Zhi. 2018 Jul 25;53(7):464-470. PubMed PMID: 30078256.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings]. AU - Guo,Y L, AU - Wang,L, AU - Xue,S W, AU - Qu,S Z, AU - Yang,J, AU - Xu,H, AU - Bai,Z X, AU - Liu,N, AU - Kong,X D, PY - 2018/8/6/entrez PY - 2018/8/7/pubmed PY - 2018/9/1/medline KW - Chromosome aberrations KW - Congenital abnormalities KW - Karyotyping KW - Polymorphism, single nucleotide KW - Ultrasonography, prenatal SP - 464 EP - 470 JF - Zhonghua fu chan ke za zhi JO - Zhonghua Fu Chan Ke Za Zhi VL - 53 IS - 7 N2 - Objective: To investigate the value of single nucleotide polymorphism array (SNP-array) for fetuses with abnormal ultrasound findings. Method: A total of 904 fetuses with abnormal ultrasound findings were enrolled in this study from May 2015 to November 2017, and 434 (48.0%) cases received conventional karyotyping analysis at the same time. According to different abnormal ultrasound category, 904 cases were divided into 5 groups: 280 cases (31.0%) in single system structural anomalies, 31 cases (3.4%) in multiple system structural anomalies, 331 cases (36.6%) in single ultrasound soft marker abnormalities without structural anomalies, 107 cases (11.8%) in multiple soft marker abnormalities and 155 cases (17.2%) in structural abnormalities combined with soft markers abnormalities. Abnormal detection rates by SNP-array among 5 groups of abnormal ultrasound category were calculated. Result: (1) Total SNP-array results: 171 (19.0%) cases out of 904 cases analyzed by SNP-array, presented chromosomal abnormalities. Pathogenic copy number variants were detected in 27 cases (3.0%) and variants of unknown significance were detected in 81 cases (7.8%) . In addition, 7 cases (26.0%) were found with new mutation by parental validation. (2) SNP-array of 5 groups: among the 5 groups of abnormal ultrasound category, chromosomal abnormalities were identified by SNP-array in 19.3% (54/280) with single system structural abnormalities, 25.8% (8/31) with multiple system structural abnormalities, 13.9% (46/331) with single nonstructural anomalies, 19.6% (21/107) with multiple nonstructural anomalies and 27.1% (42/155) with structural abnormalities combined with nonstructural anomalies. The differences were significant (P=0.010) . No chromosome abnormalities was identified in single soft marker abnormalities, such as choroid plexus cysts, echogenic foci in the heart, single umbilical artery and pyelectasis. (3) Chromosomal abnormalities: the abnormal detection rate of aneuploidy chromosomal abnormalities by SNP-array increased with the maternal age, decreased with the gestational weeks (all P<0.05) . However, the pathogenic copy number variants and variants of unknown significance rates did not change with maternal age and gestational weeks (all P>0.05) . (4) SNP-array and karyotyping: 434 cases were analyzed by conventional karyotyping and SNP-array respectively, 10.3% (43/419) of which presented chromosomal abnormalities by conventional karyotyping and 18.7% (81/434) of which presented chromosomal abnormalities by SNP-array. Conclusions: SNP-array could be a useful genetic analysis method in prenatal diagnosis for fetuses with abnormal ultrasound findings. For different abnormal ultrasound category, SNP-array has different detection rate. Compared with conventional karyotyping analysis, SNP-array can improve the detection rates for chromosomal abnormalities and find the chromosome abnormalities which can't be detected by conventional karyotyping analysis. In clinical prenatal genetic counseling, SNP-array should be selected rationally in combination with the various abnormal ultrasound category. SN - 0529-567X UR - https://www.unboundmedicine.com/medline/citation/30078256/[Application_of_single_nucleotide_polymorphism_array_in_prenatal_diagnosis_for_fetuses_with_abnormal_ultrasound_findings]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&amp;issn=0529-567X&amp;year=2018&amp;vol=53&amp;issue=7&amp;fpage=464 DB - PRIME DP - Unbound Medicine ER -