Noninvasive fetal trisomy 21 detection using chromosome-selective sequencing: a variation of the molecular counting theme

Lo, Y.M. Dennis; Chan, K C Allen; Chiu, Rossa W.̉K.

doi:10.1586/erm.12.24

Cited by 7 publications

(4 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Studies found that NIPT technology can detect microdeletions and microduplications greater than 300 Kb in fetal genomes . This study successfully used NIPT to detect microdeletions of about 5 Mb in fetal chromosome 15, which is consistent with the literature.…”

Section: Discussionsupporting

confidence: 89%

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Yin

Tang

et al. 2019

Clinical Laboratory Analysis

View full text Add to dashboard Cite

ObjectiveNoninvasive prenatal testing (NIPT) is widely used in clinical detection of fetal autosomal duplications or deletions. The aim of this study was to investigate the clinical application of NIPT for detection of chromosomal microdeletions.MethodsMicrodeletions of about 5 Mb in the long arm of chromosome 15 (q11.2‐q12) were detected by NIPT and were confirmed by karyotype analysis and copy number variation (CNV) analysis based on high‐throughput sequencing technology.ResultsThe CNV results of prenatal diagnosis showed that there were approximately 4.96 Mb of microdeletions in 15q11.2‐q13.1, which was consistent with the NIPT results. The karyotype analysis showed no abnormalities.ConclusionIn this study, the microdeletion fragment of fetal chromosome 15 was successfully detected and diagnosed using NIPT. This suggests that NIPT is an efficient method to gain genetic information about chromosomal abnormalities.

show abstract

Section: Discussionsupporting

confidence: 89%

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Yin

Tang

et al. 2019

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

“…We have known that it is very e cient and accurate for the detection of common fetal chromosome aneuploidy, especially for chromosome 13, 18 and 21. Recently, some studies have found that NIPT through deeper sequencing can screen some microdeletions and microduplications, which are greater than 300 Kb in fetal genomes [18][19][20][21][22] . However, there are no reports of 17q12 duplication syndrome screened by NIPT previously.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Microduplication of Fetal Chromosome 17 Following Noninvasive Prenatal Testing

Shi

Zheng

Wang

et al. 2021

Preprint

View full text Add to dashboard Cite

Background Chromosome 17q12 duplication syndrome is a disease caused by the complete or partial duplication of q12 in the long arm of chromosome 17, there were no cases reported about the prenatal diagnosis of the syndrome. Most of the fetal phenotype of the syndrome may not be evident during the pregnancy, which means the syndrome was only be discovered accidentally or missed during the prenatal examination. Objective Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. However, reports on chromosomal microduplication and microdeletion are rare. The aim of the study was to investigate the application value of NIPT for the detection of chromosomal microduplication. Case presentations: We found two cases of microduplication in the long arm of chromosome 17(17q12), they were first detected by NIPT and then were further diagnosed by copy number variation (CNV) analysis based on chromosome microarray analysis (CMA). The CMA results of prenatal diagnosis showed that the microduplications in 17q12 (one was 1.5Mb, the other was 1.9Mb) were consistent with the NIPT results. The amniotic fluid karyotype analysis showed no abnormalities. Finally, because it was pathogenic copy number variant, both of the parents chose to terminate the pregnancy. Conclusion In the study, two cases of microduplication fragment in the long arm of chromosome 17 were detected by NIPT and were confirmed by CMA. To our knowledge, this is the first report of prenatal diagnosis of chromosome 17q12 duplication syndrome following NIPT. This suggests that NIPT is an effective method to screen chromosome microduplications in prenatal diagnosis, especially for the chromosome 17q12 duplication syndrome.

show abstract

“…However, DS could only be detected in samples containing 25% fetal DNA [ 83 ]. If a 25% fetal enhancement is achieved, 7,680 molecules would need to be analyzed to achieve successful characterization of trisomy status [ 84 ]. Evans et al reported that if fetal DNA is enriched to 20%, then 2,609 counts would be sufficient to achieve a 99% DR for a 1% FPR.…”

Section: Further Developmentsmentioning

confidence: 99%

Non-Invasive Screening Tools for Down’s Syndrome: A Review

et al. 2013

View full text Add to dashboard Cite

Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated with around a 1% risk of miscarriage new non-invasive tests have been long sought after. Recently, the most promising approach for non-invasive prenatal diagnosis (NIPD) has been provided by the introduction of next generation sequencing (NGS) technologies. The clinical application of NIPD for DS detection is not yet applicable, as large scale validation studies in low-risk pregnancies need to be completed. Currently, prenatal screening is still the first line test for the detection of fetal aneuploidy. Screening cannot diagnose DS, but developing a more advanced screening program can help to improve detection rates, and therefore reduce the number of women offered invasive tests. This article describes how the prenatal screening program has developed since the introduction of maternal age as the original “screening” test, and subsequently discusses recent advances in detecting new screening markers with reference to both proteomic and bioinformatic techniques.

show abstract

Noninvasive fetal trisomy 21 detection using chromosome-selective sequencing: a variation of the molecular counting theme

Cited by 7 publications

References 14 publications

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Prenatal Diagnosis of Microduplication of Fetal Chromosome 17 Following Noninvasive Prenatal Testing

Non-Invasive Screening Tools for Down’s Syndrome: A Review

Contact Info

Product

Resources

About