CNV-Seq
Clinical indications
Postnatal
Children or adults with unexplained disease symptoms (Peripheral blood DNA) PrenatalPrenatal
Miscarriage products of conceptions (chorionic villus DNA) Fetal ultrasound structural abnormalities (amniocyte DNA) High risk pregnancies (advanced maternal age, soft ultrasound marker)Technology
Wet lab
Patent PCR-free library construction technology Low input: 10-50ng DNA Detection of aneuploidy, large fragment deletion/duplication, whole genome CNVs (>100kb) chromosome mosaicism (>10%)Dry lab (Bioinformatics)
CNV analysis systemCase sharing – apoblema testing
Clinical information:
31 yrs, induced labor one time, a biochemical pregnancy, six times of embryo arrest. She did such test at 7+3 weeks, no fetal buds or fetal heart.Test results:
seq [hg19] dup(2)(q36.1q37.3) chr2:g. 224740001_243020000dup seq [hg19] del(8)(q24.23q24.3) chr8:g. 138800001_146300000delCNV-seq identified terminal deletion/duplication events at the end of chromosomes 2 and 8, indicating an balanced translocation. Follow up FISH verified that the husband had t(2;8)(q36.1;q24.23) balanced translocation. The couple choose PGT and they successfully achieved a healthy baby.