| Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience. | |
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MedLine Citation:
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PMID: 22467167 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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OBJECTIVE: We evaluated both clinical and laboratory aspects of our new strategy offering quantitative fluorescence (QF)-PCR followed by non-targeted whole genome 250K single-nucleotide polymorphism array analysis instead of routine karyotyping for prenatal diagnosis of fetuses with structural anomalies. METHODS: Upon the detection of structural fetal anomalies, parents were offered a choice between QF-PCR and 250K single-nucleotide polymorphism array analysis (QF/array) or QF-PCR and routine karyotyping (QF/karyo). RESULTS: Two hundred twenty fetal samples were included. In 153/220 cases (70%), QF/array analysis was requested. In 35/153 (23%), an abnormal QF-PCR result was found. The remaining samples were analyzed by array, which revealed clinically relevant aberrations, including two known microdeletions, in 5/118 cases. Inherited copy number variants were detected in 11/118 fetuses, copy number variants with uncertain clinical relevance in 3/118 and homozygous stretches in 2/118. In 67/220 (30%) fetuses, QF/karyo was requested: 23/67 (34%) were abnormal with QF-PCR, and in 3/67, an abnormal karyotype was found. CONCLUSION: Even though QF/array does not reveal a high percentage of submicroscopic aberrations in fetuses with unselected structural anomalies, it is preferred over QF/karyo, as it provides a whole genome scan at high resolution, without additional tests needed and with a low chance on findings not related to the ultrasound anomalies. © 2012 John Wiley & Sons, Ltd. |
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Authors:
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Brigitte Hw Faas; Ilse Feenstra; Alex J Eggink; Angelique Ja Kooper; Rolph Pfundt; John Mg van Vugt; Nicole de Leeuw |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 32 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-04-02 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 362-70 Citation Subset: IM |
Copyright Information:
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© 2012 John Wiley & Sons, Ltd. |
Affiliation:
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Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. b.faas@antrg.umcn.nl. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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