Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends
Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Though currently available for various monogenic diseases through detection of...
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doaj-9140a1bb69414f148551407ca79803722021-01-02T05:09:00ZengElsevierComputational and Structural Biotechnology Journal2001-03702020-01-011824632470Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trendsTom Rabinowitz0Noam Shomron1Faculty of Medicine and Edmond J Safra Center for Bioinformatics, Tel Aviv University, Tel Aviv 69978, IsraelCorresponding author.; Faculty of Medicine and Edmond J Safra Center for Bioinformatics, Tel Aviv University, Tel Aviv 69978, IsraelNoninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Though currently available for various monogenic diseases through detection of point mutations, NIPD is limited to detecting one mutation or up to several genes simultaneously. Noninvasive prenatal whole exome/genome sequencing (WES/WGS) has demonstrated genome-wide detection of fetal point mutations in a few studies. However, Genome-wide NIPD of monogenic disorders currently has several challenges and limitations, mainly due to the small amounts of cfDNA and fetal-derived fragments, and the deep coverage required. Several approaches have been suggested for addressing these hurdles, based on various technologies and algorithms. The first relevant software tool, Hoobari, recently became available. Here we review the approaches proposed and the paths required to make genome-wide monogenic NIPD widely available in the clinic.http://www.sciencedirect.com/science/article/pii/S2001037020303871Genome-wideNoninvasive prenatal diagnosisNIPDNIPTMonogenic disorders |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Tom Rabinowitz Noam Shomron |
spellingShingle |
Tom Rabinowitz Noam Shomron Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends Computational and Structural Biotechnology Journal Genome-wide Noninvasive prenatal diagnosis NIPD NIPT Monogenic disorders |
author_facet |
Tom Rabinowitz Noam Shomron |
author_sort |
Tom Rabinowitz |
title |
Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends |
title_short |
Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends |
title_full |
Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends |
title_fullStr |
Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends |
title_full_unstemmed |
Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends |
title_sort |
genome-wide noninvasive prenatal diagnosis of monogenic disorders: current and future trends |
publisher |
Elsevier |
series |
Computational and Structural Biotechnology Journal |
issn |
2001-0370 |
publishDate |
2020-01-01 |
description |
Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Though currently available for various monogenic diseases through detection of point mutations, NIPD is limited to detecting one mutation or up to several genes simultaneously. Noninvasive prenatal whole exome/genome sequencing (WES/WGS) has demonstrated genome-wide detection of fetal point mutations in a few studies. However, Genome-wide NIPD of monogenic disorders currently has several challenges and limitations, mainly due to the small amounts of cfDNA and fetal-derived fragments, and the deep coverage required. Several approaches have been suggested for addressing these hurdles, based on various technologies and algorithms. The first relevant software tool, Hoobari, recently became available. Here we review the approaches proposed and the paths required to make genome-wide monogenic NIPD widely available in the clinic. |
topic |
Genome-wide Noninvasive prenatal diagnosis NIPD NIPT Monogenic disorders |
url |
http://www.sciencedirect.com/science/article/pii/S2001037020303871 |
work_keys_str_mv |
AT tomrabinowitz genomewidenoninvasiveprenataldiagnosisofmonogenicdisorderscurrentandfuturetrends AT noamshomron genomewidenoninvasiveprenataldiagnosisofmonogenicdisorderscurrentandfuturetrends |
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