Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.

摘要: To evaluate the diagnostic value of single-nucleotide polymorphism (SNP) array testing in 1033 fetuses with ultrasound anomalies we investigated prevalence and genetic nature pathogenic findings. We reclassified all findings into three categories: causative findings; unexpected diagnoses (UD); susceptibility loci (SL) for neurodevelopmental disorders. After exclusion trisomy 13, 18, 21, sex-chromosomal aneuploidy triploidies, 76/1033 (7.4%) a chromosome abnormality was detected by genomic SNP array: 19/1033 cases (1.8%) microscopically detectable found 57/1033 (5.5%) submicroscopic detected. 58% (n=44) these abnormalities involved finding, 35% (n=27) SL disorder, 6% (n=5) UD an early-onset untreatable disease. In 0.3% parental samples incidental finding encountered. Our results confirm that should be preferred first-tier technique anomalies. All UDs diseases, which is beneficial patients to know. It also seems occur at comparable frequency among microscopic were more often than pregnancies without