I am a 34-years-old woman. I had normal results of non-invasive prenatal screening. My Ultrasonography at 17 gestational weeks revealed fetal kidney dysplasia. Luckily the condition was found sooner. So the Doctor recommended me to run the test which is amniocentesis for chromosomal copy number variation detections. When the test results came out it showed a 1.48 MB deletion in chromosome 17 of the amniotic fluid sample. According to authoritative database, the deletion is a clear pathogenic mutation which can lead to renal cysts and diabetes syndrome. The doctor induced labor according to the opinions of us, to avoid the birth of the child.
Chromosome Copy Number Variation Detection
Copy Number Variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. Approximately two-third of the entire human genome may be composed of repeats and 4.8-9.5% of the human genome can be classified as copy variations. The incidence of pathogenic or potentially pathogenic chromosomal microdeletions and micro-duplications are 1.7%, which can cause spontaneous abortion, congenital malformation or growth retardation of fetuses.
BaseCNV is a genetic test for chromosomal copy number variation in different sample types (peripheral blood, umbilical cord blood, abortion tissue, etc.). The testing results can be used to analysis the cause of abortion or diagnosis pediatric genetic conditions. Based on high throughput sequencing technology, BaseCNV can analyze 23 pairs of chromosome aneuploidy, more than 1 M copy number variation and known pathogenic copy number variation, with an accuracy of 99%, providing a basis for scientific diagnosis and clinical treatment.
Who benefits from CNV?
Patient with autism who what to find the cause at genetic level
Patient who want to find the cause of complex disease
Pregnant women who have experienced spontaneous abortion or multiple miscarriagesV
Fetuses and parents with normal karyotype analysis, but abnormal ultrasound results
Parents or fetus with developmental retardation, mental retardation, multiple malformations
Wide detection range
Comprehensive testing for all 23 pairs of chromosomes
Low misdiagnosis rate
Effectively avoid misdiagnosis caused by maternal contamination
High success rate
No need cell cultivation, the success rate of sample detection is as high as 99%
Success detection of more than 100kb microdeletions/micro-duplications
High detection rate
It provide up to 40%-50% detection rate for genetic disease
It can shorter whole detection cycle without raising economic cost