Chromosome abnormality is an important factor to cause infertility, recurrent adverse pregnancy, in the early abortion of the embryo, 60-80% is caused by chromosomal abnormalities, abortion couples about 33% of the existence of chromosome
Cause of disease
Although the pathogenesis of chromosomal aberrations is unknown, we can determine the cause of some chromosomal abnormalities.
1, chromosomal translocation and endocrine disorders, especially women of childbearing age, it is easy to cause the egg chromosome translocation.
2, drug abuse, air pollution, food pollution, electromagnetic wave pollution, radiation pollution, etc., is also a common cause of chromosomal translocation
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Testing product
The results of chromosome detection are common in the following;
Chromosome equilibrium translocation.
Two is the homologous chromosome translocation.
Three is the normal chromosome.
| Product name | Detection content | intended for | Sample type |
| Color body detection -100K | 23 pairs of chromosome non - whole body and 100Kb above deletion, repeat | 1 in the middle and late pregnancy abortion (>122 gestational weeks) or stillbirth, ultrasound abnormalities, fetal malformation; 2 congenital malformations, mental retardation / developmental delay, congenital heart disease, as well as language disorders, unexplained multiple system abnormalities, such as clinical characterization of the newborn / child patients and suspected patients | Abortion tissue (including embryos, chorionic villi, fetal tissues) Peripheral blood Umbilical cord blood amniotic fluid DNA |
| Chromosome detection -T | 23 pairs of chromosome non - whole body and 100Kb above deletion, translocation, inversion, 5KB breakpoint | 1 B ultrasound abnormalities, multiple malformations, but the karyotype of /arrayCGH/SNParray did not find abnormal fetus; 2 women with a history of recurrent abortion, abnormal fetal pregnancy, birth defects birth history, but the fetus can not get a couple of samples; 3 couples with unexplained infertility; 4 any hope that through the balanced translocation or inversion carrier screening guidelines for the birth of the couple. | Umbilical cord blood Peripheral blood DNA |
Clinical significance
The genetic causes of abortion, stillbirth, 1 for ultrasound abnormalities, multiple malformations of the fetus, reduce unnecessary testing or treatment.
2 to find couples with chromosomal problems, assisted clinical guidance for pregnancy again, combined with the existing diagnostic techniques to guide couples in the healthy birth of the next generation.
3 search for the genetic causes of male infertility with little or no precision, and guide the way of testicular biopsy and assisted pregnancy.
Clinical diagnosis of 4 patients and suspected patients.