OBJECTIVE: 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. METHODS: 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. RESULTS: Combined data of the reviewed studies (n = 18) indicated that fetuses with an ultrasound anomaly restricted to one anatomical system (n = 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 (n = 1139). CONCLUSION: 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.
OBJECTIVE: 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. METHODS: 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. RESULTS: Combined data of the reviewed studies (n = 18) indicated that fetuses with an ultrasound anomaly restricted to one anatomical system (n = 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 (n = 1139). CONCLUSION: 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.
Authors: Antina de Jong; Wybo J Dondorp; Merryn V E Macville; Christine E M de Die-Smulders; Jan M M van Lith; Guido M W R de Wert Journal: Hum Genet Date: 2014-02 Impact factor: 4.132
Authors: Malgorzata I Srebniak; Karin Em Diderich; Marieke Joosten; Lutgarde Cp Govaerts; Jeroen Knijnenburg; Femke At de Vries; Marjan Boter; Debora Lont; Maarten Fcm Knapen; Merel C de Wit; Attie Tji Go; Robert-Jan H Galjaard; Diane Van Opstal Journal: Eur J Hum Genet Date: 2015-09-02 Impact factor: 4.246
Authors: Anita S Y Kan; Elizabeth T Lau; W F Tang; Sario S Y Chan; Simon C K Ding; Kelvin Y K Chan; C P Lee; Pui Wah Hui; Brian H Y Chung; K Y Leung; Teresa Ma; Wing C Leung; Mary H Y Tang Journal: PLoS One Date: 2014-02-05 Impact factor: 3.240
Authors: Malgorzata I Srebniak; Merel C de Wit; Karin E M Diderich; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Marnix J Bos; Gerda A G Looye-Bruinsma; Mieke Koningen; Attie T J I Go; Robert Jan H Galjaard; Diane Van Opstal Journal: Mol Cytogenet Date: 2016-09-07 Impact factor: 2.009