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 Detection Of Amniotic Fluid Tissue
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
Pregnant women concerned about the health of their fetuses
Elderly pregnant women (due age ≥35 years)
Serological screening of pregnant women at high risk and NIPT suggested high risk of chromosomal aneuploidy
Fetal ultrasound indicated abnormalities, but analysis of amniotic fluid karyotype showed normal results in pregnant women
Comprehensive testing for all 23 pairs of chromosomes
Up to 60M valid Reads were detected, over 100Kb CNVs were detected
Strict quality control
Strict quality control standards ensure the accuracy of test results
Can be extra prompt about 10% low proportion chimera
Low misdiagnosis rate
Effectively avoid misdiagnosis caused by maternal contamination
It can shorter whole detection cycle without raising economic cost