Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening

Lan, Liubing; Wu, Heming; She, Lingna; Zhang, Bosen; He, Yihua; Luo, Dandan; Wang, Huaxian; Zheng, Zhiyuan

doi:10.1002/jcla.23347

Cited by 16 publications

(22 citation statements)

References 31 publications

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“…13,14 An increasing number of studies had shown that pathogenic copy number variations (pCNVs) account for a certain percentage of the fetuses in older pregnant women and with abnormal ultrasound. 15,16 Karyotype analysis is one of the main detection techniques for chromosomal abnormality. However, karyotype analysis has some limitations.…”

Section: Introductionmentioning

confidence: 99%

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Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Zhang

Huang

et al. 2021

The Journal of Gene Medicine

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Background: The present study aimed to explore the etiological relationship between miscarriage and stillbirth and copy number variations (CNVs), as well as provide useful genetic guidance for high-risk pregnancy.Methods: In total, 659 fetal samples were recruited and subjected to DNA extraction and CNV sequencing (CNV-seq), relevant medical records were collected.Results: There were 322 cases (48.86%) with chromosomal abnormalities, including 230 with numerical abnormalities and 92 with structural abnormalities. Chromosomal monosomy variations mainly occurred on sex chromosomes and trisomy variations mainly occurred on chromosomes 16, 22, 21, 18, 13 and 15. In total, 41 pathogenic CNVs (23 microdeletions and 18 microduplications) were detected in 27 fetal tissues.The rates of numerical chromosomal abnormalities were 29.30% (109/372), 32.39% (57/176) and 57.66% (64/111) in < 30-year-old, 30-34-year-old and ≥ 35-year-old age pregnant women, respectively, and increased with an increasing age (p < 0.001).There was statistically significant difference (χ 2 = 7.595, p = 0.022) in the rates of structural chromosomal abnormalities in these groups (13.71%, 18.75% and 7.21%, respectively). The rates of numerical chromosomal abnormalities were 45.44% (219/482), 7.80% (11/141) and 0% (0/36) in the ≤ 13 gestational weeks, 14-27 weeks and ≥ 28 weeks groups, respectively, and decreased with respect to the increasing gestational age of the fetuses (p < 0.001). Conclusions:The present study has obtained useful and accurate genetic etiology information that will provide useful genetic guidance for high-risk pregnancies.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Zhang

Huang

et al. 2021

The Journal of Gene Medicine

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“…Since CNV-seq was rst reported in 2009 that it could be used for accurate analysis of chromosomal copy number variation [22], more and more studies have proved that CNV-seq is feasible to improve the detection of chromosomal abnormality and may serve as a supplement for conventional karyotype analysis during the prenatal diagnosis [21][22][23]. However, the usefulness and incremental diagnostic yield of CNV-seq compared to standard karyotyping in fetuses with SUA remain uncertain.…”

Section: Discussionmentioning

confidence: 99%

Prenatal evaluation of chromosomal abnormalities and copy number variations in fetuses with single umbilical artery

Han

Feng

Meng

2022

Preprint

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Background A normal umbilical cord has a single umbilical vein and two umbilical arteries. Single umbilical artery (SUA) is one of the most common umbilical anomaly detected by prenatal ultrasonography. The objective of this study was to evaluate the usefulness of copy number variation sequencing (CNV-seq) and standard karyotyping in fetuses with single umbilical artery (SUA) and to investigate the genetic etiology of prenatal SUA. Methods Data from pregnancies referred for invasive testing and copy number variation sequencing (CNV-seq) due to sonographic diagnosis of fetal with SUA from 2013 to 2022 were obtained retrospectively from the computerized database. The rates of chromosome aberrations and abnormal CNV-seq findings for isolated SUA, SUA accompanied with soft markers and ultrasound malformations were calculated. Results Of the 474 fetuses with SUA that underwent karyotyping, chromosomal abnormalities were detected in fetuses, with a chromosomal abnormality rate of 10.3% (49/474). The use of CNV-seq provides a 10.2% (18/177) incremental yield of detecting pathogenic CNVs in fetuses with SUA and normal karyotype. our study showed that the risk of pathogenic chromosomal abnormalities and copy number variations were increased in the SUA combined malformation or soft markers group compared to that in the isolated SUA group.Meanwhile, fetuses with isolated SUA had an additional 3.4% (6/177) of pathogenic CNVs on top of chromosome aneuploidies. Conclusion CNV-seq could aid in the risk assessment and genetic counseling in fetuses with isolated SUA, Integrating CNV analysis and karyotyping for prenatal diagnosis of SUA in prenatal diagnosis can provide more accurate genetic proof for prenatal counseling and prediction of fetal outcomes.

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“…Through whole genome low-coverage sequencing, CNV-seq is able to detect genetic aberrations, including chromosome aneuploidies and CNVs larger than 100 kb 8 . Combined with the advantages of using small amounts of genomic DNA and detecting low-level mosaicism, CNV-seq has been used increasingly widely for prenatal diagnosis 9 – 12 . However, due to its low sequencing depth, CNV-seq cannot detect balanced karyotypic changes and polyploidies such as 69, XXX 8 .…”

Section: Introductionmentioning

confidence: 99%

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Zhang

Chen

et al. 2023

Sci Rep

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To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyotyping or QF-PCR. Although several studies have investigated the performance of the combined use of CNV-seq with karyotyping or QF-PCR, there have been no reports focusing on the comparison of these 2 diagnostic strategies. In our study, 2507 pregnant women were included to investigate these 2 strategies. The detection rates of foetal genetic abnormalities and turnaround time were compared between these 2 groups. Moreover, the detection rates of foetal genetic abnormalities in different indications were analyzed. Our results unveiled that the detection rates of numerical chromosomal abnormalities were nearly the same in these 2 groups. In addition to numerical chromosomal abnormalities, 39 balanced karyotypic changes and chromosome polymorphisms were detected via the combined use of karyotyping and CNV-seq. Further investigation revealed that the vast majority of these karyotypic changes were inherited from parents. Compared with the karyotyping group, the combination of QF-PCR and CNV-seq reduced the reporting time from 31.593 ± 4.944 days to 11.460 ± 4.894 days. Meanwhile, NIPT, maternal serum screening and ultrasound scan significantly improved the detection of foetal genetic abnormalities. In conclusion, our results revealed that parental karyotyping is a useful supplementary method for CNV-seq and systematic prenatal examinations improved the detection of foetal genetic defects.

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Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening

Cited by 16 publications

References 31 publications

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Prenatal evaluation of chromosomal abnormalities and copy number variations in fetuses with single umbilical artery

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

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