Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. (4th February 2014)

• Record Type: Journal Article
• Authors: de wit, M. C.; Srebniak, M. I.; Govaerts, L. C. P.; Van Opstal, D.; Galjaard, R. J. H.; Go, A. T. J. I.
• Is Part Of: Ultrasound in obstetrics & gynecology. Volume 43:Number 2(2014:Feb.)
• Page Start: 139
• Page End: 146
• Publication Date: 2014-02-04
• Subjects: Ultrasonics in obstetrics -- Periodicals; Generative organs, Female -- Diseases -- Diagnosis -- Periodicals; Diagnosis, Ultrasonic -- Periodicals; Genital Diseases, Female -- ultrasonography -- Periodicals; Ultrasonography, Prenatal -- Periodicals; 618.047543
• DOI: 10.1002/uog.12575
• Languages: English
• ISSNs: 0960-7692

Abstract

<abstract abstract-type="main" id="uog12575-abs-0001"> <title>ABSTRACT</title> <sec id="uog12575-sec-0001" sec-type="section"> <title>OBJECTIVE</title> <p id="uog12575-para-0001"> <italic>To establish the prevalence of submicroscopic genetic copy number variants (CNVs) in fetuses with a structural ultrasound anomaly (restricted to one anatomical system) and a normal karyotype. The aim was to determine the diagnostic and prognostic value of genomic array testing in these pregnancies</italic>.</p> </sec> <sec id="uog12575-sec-0002" sec-type="section"> <title>Methods</title> <p id="uog12575-para-0002"> <italic>Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses with ultrasound anomalies. Reported cases were sorted into groups according to anatomical site of the detected ultrasound anomaly. The prevalence of causative submicroscopic CNVs was calculated for each group</italic>.</p> </sec> <sec id="uog12575-sec-0003" sec-type="section"> <title>Results</title> <p id="uog12575-para-0003"> <italic>Combined data of the reviewed studies (</italic>n = <italic>18) indicated that fetuses with an ultrasound anomaly restricted to one anatomical system (</italic>n = <italic>2220) had a 3.1–7.9% chance of carrying a causative submicroscopic CNV, depending on the anatomical system affected. This chance increased to 9.1% for fetuses with multiple ultrasound anomalies (</italic>n = <italic>1139)</italic>.</p> </sec> <sec id="uog12575-sec-0004" sec-type="section"> <title>Conclusion</title> <p id="uog12575-para-0004"> <italic>This review indicates that 3.1–7.9% of fetuses with a structural ultrasound anomaly restricted to one anatomical system and a normal karyotype will show a submicroscopic CNV, which explains its phenotype and provides information for fetal prognosis. Therefore, we conclude that microarray has considerable diagnostic and prognostic value in these pregnancies. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd</italic>.</p> </sec> </abstract>