Block Chromosomal Inherited Diseases

Chromosome balanced translocation is divided into two types: reciprocal translocation and Robertson translocation. It is the most common chromosome structural abnormality in humans, and the incidence rate in the population is 1/‰-3‰. Carriers of balanced translocation usually have normal intelligence and phenotype, but their child will face the same serious problems such as spontaneous abortion, stillbirth, and fetal malformations. For balanced translocation carriers, the most suitable method of birth is with the help of preimplantation genetic diagnosis technology (PGD). Conventional PGD assist balanced translocation carriers to realize successful childbirth, however it cannot distinguish between a completely normal embryo and a balanced translocation carrying embryo. This means that the offspring has a 50% probability of being a balanced translocation carrier and facing the same infertility problems as his parents when he grows up.

Clinical Pathway

Case Studies

Since the miscarriage 10 years ago, we have not succeeded in getting pregnant. After examination, it was found that my husband is chromosome Robertson translocation carrier.

In 2017, I was 39 years old, and since the miscarriage 10 years ago, we have not succeeded in getting pregnant. It was found that my husband is chromosome Robertson translocation carrier. It turned out that the source of all these hardships came from his chromosomal abnormalities. After full evaluation and full communication, the director of the Reproductive Center decided to use the latest MaReCs technology to select completely normal embryos instead of transplanting Robertson translocation embryos. By formulating a detailed clinical treatment plan, a dozen eggs were obtained after ovulation induction, and 4 blastocysts were obtained on the 5th day of in vitro embryo culture. Using MaReCs technology, the final diagnosis showed that one of the four blastocysts was aneuploid and could not be used for transplantation, and transplantation of two balanced translocations carrying embryos is not recommended, because the offspring will be born with the same fertility difficulties as my husband.

Another embryo was identified as completely normal. In order to ensure safety, the doctor also deliberately performed whole genome screening of this normal embryo by a high-throughput sequencing at the same time, and the results showed that no pathogenic microduplications or microdeletions were found. After full preparation, on April 18, 2018, the doctor transferred this completely normal embryo into my body. Four weeks later, the doctor saw a strong fetal heart beat through ultrasound screen, indicating a successful pregnancy. After fetal amniocentesis, the examination results showed that the chromosomes were completely normal. Finally, on December 30, 2018, I gave birth to a healthy baby girl, weighing 8 kg. After ten years of infertility, at the age of 40, I finally welcomed my baby on this day, fulfilling our dream for more than ten years.