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Article: Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases

TitlePrenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases
Authors
KeywordsIntellectual Disability
Microarray Analysis
Pathogenic CNVs
Issue Date2019
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 2019, v. 39 n. 12, p. 1064-1069 How to Cite?
AbstractObjective: Evaluate the diagnostic yield of prenatal submicroscopic chromosome anomalies using prenatal array comparative genomic hybridisation (aCGH). Method: Prospective cohort study conducted between March 2013 and June 2017 including fetuses where an elevated nuchal translucency (NT) or structural anomaly was identified on ultrasound and common aneuploidy testing was negative. aCGH was performed using an 8‐plex oligonucleotide platform with a genome wide backbone resolution of greater than 200 kb and interpretation in line with American College of Medical Genetics guidance. Results: One thousand one hundred twenty‐nine fetuses were included; 371 fetuses with an increased NT (32.9%) and 758 with a structural anomaly (67.1%). The rate of pathogenic copy number variants (CNVs) and variant of uncertain significance (VUS) was 5.9% (n = 22) and 0.5% (n = 2) in the elevated NT group and 7.3% (n = 55) and 0.8% (n = 6) in the mid‐trimester anomaly group. No pathogenic CNVs were identified in fetuses with an NT less than 4.0 mm. Multisystem and cardiac anomalies had the greatest yield of pathogenic CNV with a 22q11.2 microdeletion present in 40% (12/30). Conclusion: Prenatal aCGH is a useful diagnostic tool in the investigation of fetuses with a significantly elevated NT or structural anomaly. With time and experience, rates of pathogenic CNVs have increased, and VUS have reduced, supporting the prenatal application of increasingly high resolution aCGH platforms.
Persistent Identifierhttp://hdl.handle.net/10722/277782
ISSN
2019 Impact Factor: 2.425
2015 SCImago Journal Rankings: 1.450

 

DC FieldValueLanguage
dc.contributor.authorChong, HP-
dc.contributor.authorHamilton, S-
dc.contributor.authorMone, F-
dc.contributor.authorCheung, KW-
dc.contributor.authorTogneri, FS-
dc.contributor.authorMorris, RK-
dc.contributor.authorQuinlan-Jones, E-
dc.contributor.authorWilliams, D-
dc.contributor.authorAllen, S-
dc.contributor.authorMcMullan, DJ-
dc.contributor.authorKilby, MD-
dc.date.accessioned2019-10-04T08:01:15Z-
dc.date.available2019-10-04T08:01:15Z-
dc.date.issued2019-
dc.identifier.citationPrenatal Diagnosis, 2019, v. 39 n. 12, p. 1064-1069-
dc.identifier.issn0197-3851-
dc.identifier.urihttp://hdl.handle.net/10722/277782-
dc.description.abstractObjective: Evaluate the diagnostic yield of prenatal submicroscopic chromosome anomalies using prenatal array comparative genomic hybridisation (aCGH). Method: Prospective cohort study conducted between March 2013 and June 2017 including fetuses where an elevated nuchal translucency (NT) or structural anomaly was identified on ultrasound and common aneuploidy testing was negative. aCGH was performed using an 8‐plex oligonucleotide platform with a genome wide backbone resolution of greater than 200 kb and interpretation in line with American College of Medical Genetics guidance. Results: One thousand one hundred twenty‐nine fetuses were included; 371 fetuses with an increased NT (32.9%) and 758 with a structural anomaly (67.1%). The rate of pathogenic copy number variants (CNVs) and variant of uncertain significance (VUS) was 5.9% (n = 22) and 0.5% (n = 2) in the elevated NT group and 7.3% (n = 55) and 0.8% (n = 6) in the mid‐trimester anomaly group. No pathogenic CNVs were identified in fetuses with an NT less than 4.0 mm. Multisystem and cardiac anomalies had the greatest yield of pathogenic CNV with a 22q11.2 microdeletion present in 40% (12/30). Conclusion: Prenatal aCGH is a useful diagnostic tool in the investigation of fetuses with a significantly elevated NT or structural anomaly. With time and experience, rates of pathogenic CNVs have increased, and VUS have reduced, supporting the prenatal application of increasingly high resolution aCGH platforms.-
dc.languageeng-
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252-
dc.relation.ispartofPrenatal Diagnosis-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectIntellectual Disability-
dc.subjectMicroarray Analysis-
dc.subjectPathogenic CNVs-
dc.titlePrenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases-
dc.typeArticle-
dc.identifier.emailCheung, KW: kawang@HKUCC-COM.hku.hk-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/pd.5545-
dc.identifier.pmid31393021-
dc.identifier.scopuseid_2-s2.0-85070952789-
dc.identifier.hkuros306812-
dc.identifier.volume39-
dc.identifier.issue12-
dc.identifier.spage1064-
dc.identifier.epage1069-
dc.publisher.placeUnited Kingdom-

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