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BMC Pregnancy and Childbirth

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01-12-2021 | Trisomy 18 | Research

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Authors: Jinman Zhang, Xinhua Tang, Jilin Hu, Guilin He, Jian Wang, Yingting Zhu, Baosheng Zhu

Published in: BMC Pregnancy and Childbirth | Issue 1/2021

Abstract

Background

We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.

Methods

CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV).

Results

Among the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balanced), 52 (0.6%) without karyotyping results, and 8431 (89.2%) normal cytogenetic karyotypes. Among the 8705 cases with normal karyotype, polymorphism, mutual translocation, or marker chromosome, CNV-Seq detected 63 cases (0.7%) of pathogenic chromosome microdeletion/duplication. Retrospectively, noninvasive prenatal testing (NIPT) had high sensitivity and specificity for the screening of fetal pathogenic CNV, and NIPT combining with maternal age, maternal serum screening or fetal ultrasound scanning, which improved the screening performance.

Conclusion

The combined application of cytogenetic karyotyping and CNV-Seq significantly improved the detection rate of fetal pathogenic chromosome microdeletion/duplication. NIPT was recommended for the screening of pathogenic chromosome microdeletion/duplication, and NIPT combining with other screening methods further improved the screening performance for pathogenic fetal CNV.

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Title: Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis
Authors: Jinman Zhang
Xinhua Tang
Jilin Hu
Guilin He
Jian Wang
Yingting Zhu
Baosheng Zhu
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Trisomy 18
Trisomy 21
Termination of Pregnancy
Termination of Pregnancy
Published in: BMC Pregnancy and Childbirth / Issue 1/2021
Electronic ISSN: 1471-2393
DOI: https://doi.org/10.1186/s12884-021-03918-y

2024 ASCO Annual Meeting

Springer Medicine

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Abstract

Background

Methods

Results

Conclusion

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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