Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating in creasing acceptance and clinical utility

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dc.contributor.authorLallar, Meenakshien_US
dc.contributor.authorSrivastava, Priyankaen_US
dc.contributor.authorRai, Archanaen_US
dc.contributor.authorSaxena, Deeptien_US
dc.contributor.authorMandal, Kausiken_US
dc.contributor.authorPhadke, Shubha R.en_US
dc.date.accessioned2020-11-18T10:20:45Z
dc.date.available2020-11-18T10:20:45Z
dc.date.issued2019-02
dc.description.abstractThe aim of the present study was to evaluate the diagnostic yield of prenatal cytogeneticmicroarray (CMA) in structurally normal and abnormal foetuses and record the acceptance rate of CMA for prenatal diagnosis over a course of five year. In 128 structurally normal and abnormal foetuses, CMA was performed along with foetal karyotype, after exclusion of aneuploidy by quantitative fluorescence polymerase chain reaction. The microarray was able to detect the pathogenic variants in 5.5% cases; the diagnostic yield in structurally abnormal foetuses was 8.8% and 4.7% in foetuses with a high aneuploidy risk. Balanced and unbalanced translocations, and low level mosaicism were detected. Reanalysis of variants of uncertain significance identified pathogenic variant. The study shows higher diagnostic yield in structurally abnormal cases, the importance of foetal karyotype and reanalysis in microarray. The acceptance rate of prenatal CMA increased five-fold over a period of five yearen_US
dc.identifier.affiliationsDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226 014, Indiaen_US
dc.identifier.citationLallar Meenakshi, Srivastava Priyanka, Rai Archana, Saxena Deepti, Mandal Kausik, Phadke Shubha R.. Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating in creasing acceptance and clinical utility. Journal of Genetics. 2019 Feb; 98: 1-9en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215380
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume98en_US
dc.source.urihttps://www.ias.ac.in/article/fulltext/jgen/098/0006en_US
dc.subjectcytogenetic microarrayen_US
dc.subjectprenatalen_US
dc.subjectfoetal structural abnormalitiesen_US
dc.subjectkaryotypeen_US
dc.subjectvariants of uncertain significance.en_US
dc.titleCytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating in creasing acceptance and clinical utilityen_US
dc.typeJournal Articleen_US
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