A patient had undergone 3 abortions. Considering her advanced age and repeated abortions, the doctor proposed detection of the chromosomal abnormalities of the abortion tissues. The results showed that the abnormality was trisomy 16. Trisomy is caused by chromosome non disjunction during meiosis and common in spontaneous abortion. Trisomy 16 is mostly a de novo chromosomal abnormality with a low risk of recurrence. The causes related to recurrence may include: advanced maternal age; germ cell chimera; genetic or non-genetic factors related to the parental susceptibility to chromosome non disjunction. Trisomy 16 occurs frequently in human chromosomal abnormalities, with miscarriage generally occurring in the first three months of pregnancy in non-chimeric types. According to the public database, the main clinical manifestations are: widened eye spacing, collapsed nose, cleft palate, cleft lip, congenital heart disease and cerebral hypoplasia with variability among individuals. Prenatal tests and diagnosis are recommended for re-birth.
Chromosome Copy Number Variation Detection
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. CNV 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 miscarriages
Fetuses and parents with normal karyotype analysis, but abnormal ultrasound results
Parents or fetus with developmental retardation, mental retardation, multiple malformations
The detection rate of de novo chromosomal rearrangements is higher than that of similar detection technologies in the market
The resolution is higher than the traditional method and the known pathogenic copy number variations of over 100Kb can be detected