Female wang, 37 years old, 14 weeks of pregnancy, a total of 5 pregnancies, the first child was induced abortion, the second and third children were 60 days without fetal buds, the fourth child 60 days after the heart stopped beating. This pregnancy is the fifth. In order to ensure the smooth birth of the fetus, the doctor suggested amniocentesis for high-resolution CNV-seq test. The test found that the patient had about 95Mb heterozygous duplication on chromosome q12.11-q34, which is 13-trisomy syndrome. The 13-trisomy syndrome is also known as Patau's syndrome.80% of cases of this disease are free type 13-trisomy, karyotype is 46, XX (or XY), +13, and the rest are chimeric or translocated. The chimeric type generally has mild symptoms, and the translocation type is usually dominated by the 13th and 14th Roche translocations, and about 90% of 13q/13q Robertson translocations are equal brachymal chromosomes. If one of the parents is a 13q/13q translocation carrier, the abortion rate is 100% due to the occurrence of only three body or monomer zygotes. This also explains why the second, third and fourth fetuses of the pregnant woman are unable to develop normally, and she finally chooses to terminate the pregnancy to prevent the birth of the defective child.
Chromosome Detection Of Amniotic Fluid Tissue
Genome loss or duplication in the process of chromosome deletion, insertion, rearrangement and multi-point complex mutation varies from 1kb to several Mb. CNVs may affect gene expression depending on the location and coverage of genes and the type of abnormalities. The amniotic fluid chromosomal abnormality test (CNVPlus) is mainly used to detect whether the fetus has chromosomal abnormalities, so as to avoid birth defects in children with chromosomal diseases. This product is based on high-throughput sequencing technology. By significantly increasing the sequencing data of a single sample and combining with professional and rigorous biological information algorithm, it can finally achieve the accurate detection of over 100Kb genome copy number variation, which is especially suitable for prenatal testing. Clinicians can obtain more comprehensive fetal genome copy number information, so as to reduce the risk of clinical misdiagnosis and missed diagnosis of prenatal chromosome diseases.
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