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  5. Prenatal SNP array testing in 1000 fetuses with ultrasound anoma

Prenatal SNP array testing in 1000 fetuses with ultrasound anoma

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

利用SNP 晶片評估1033個超音波異常的胎兒的疾病盛行率、遺傳性疾病。我們將致病疾病分為3種類別: 致病發現、非預期診斷(UD)、神經發展異常的基因位點(SL)。臨床個案的1033個胎兒當中(其中排除了染色體三倍體異常(包括13、18、21)、性染色體異常、全三倍體),SNP晶片檢測到76個胎兒(76/1033, 7.4%)有致病性的染色體異常;顯微鏡可檢測到19個胎兒(19/1033, 1.8%)異常;進階版顯微鏡可檢測到57個胎兒(57/1033, 5.5%)異常。所有致病性染色體異常當中,有58% (N=44)為致病發現;有35% (N=27) 為神經發展異常的基因位點;有6% (N=5) 為早期無法治癒的非預期診斷。

結果發現超音波異常的胎兒,晶片應該為第一孕期檢測的首選。所有早期非預期性診斷,讓病人知道是有好處了。非預期診斷的致病原因比較容易被顯微鏡、進階顯微鏡發現。
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