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

Prenatal Diagnosis
Hsu P ChongMark D Kilby

Abstract

Evaluate the diagnostic yield of prenatal submicroscopic chromosome anomalies using prenatal array comparative genomic hybridisation (aCGH). 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. 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). Prenatal aCGH is a useful diagnostic tool in the investigation of fetuses with a significantly elevated NT o...Continue Reading

References

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Citations

Feb 11, 2020·Prenatal Diagnosis·Fionnuala MoneMark D Kilby
Jul 30, 2020·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Jun-Hui WanDong-Zhi Li
Apr 14, 2021·Prenatal Diagnosis·Jenny PattersonUNKNOWN UK Heads of Genetics Laboratory Group
Oct 2, 2021·Ultraschall in der Medizin : Organ der Deutschen Gesellschaft für Ultraschall in der Medizin, [der] Österreichischen Gesellschaft für Ultraschall in der Medizin, [der] Schweizerischen Gesellschaft für Ultraschall in Medizin und Biologie·Karl Oliver KaganMarkus Hoopmann

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