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

Autor: Chong HP; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Hamilton S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK., Mone F; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK., Cheung KW; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong., Togneri FS; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK., Morris RK; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Quinlan-Jones E; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Williams D; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK., Allen S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK., McMullan DJ; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK., Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2019 Nov; Vol. 39 (12), pp. 1064-1069. Date of Electronic Publication: 2019 Aug 22.
DOI: 10.1002/pd.5545
Abstrakt: Objective: 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.
(© 2019 John Wiley & Sons, Ltd.)
Databáze: MEDLINE
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