Guide
Liu Wei (pseudonym) has not been pregnant for 5 years after marriage, and came to Jiayin Hospital for help in April 2020. Dr. Feng Jinyu, a team of fertility assistants at the Reproductive Medicine Center, suggested that they first conduct a comprehensive examination to understand the physical condition of both parties in detail before formulating a suitable fertility plan for them. The results of the fertility assessment came out, in addition to finding that Liu Wei suffered from some basic gynecological diseases, there was a result that attracted the attention of doctors. Genetic testing reports for both of them suggested that the GJB2 gene c.109G>A (p.Val37Ile) heterozygous mutation was detected.
Seeing this string of obscure figures, Liu Wei and his wife were very panicked, so they went to the genetic counseling clinic of the Clinical Genetics Department of Jiayin Hospital to seek answers. Director Zhang Kun told them that the result of this examination means that both of you and your husband carry the hereditary deafness gene, although neither of you has the disease, but there is a risk of passing it on to future generations.
"Deafness? Didn't we hear that right? Both husband and wife were surprised to hear this word, "Both of us have normal hearing, how can we be deaf gene carriers, will we be mistaken?" ”
Director Zhang Kun patiently explained: According to clinical data, the carriers of deafness genes in normal people account for about 6%, which means that even if parents have normal hearing, there is a certain chance of giving birth to deaf children. Moreover, now that your examination reports have determined that both of you are recessive carriers of the hereditary deafness gene, the probability that both parties will carry the recessive deafness causative gene at the same time is as high as 1 in 16. That is to say, you only have a quarter probability of having a baby with normal hearing, and two-quarters of the probability of giving birth to a baby who is normal hearing like you, but carries a hereditary deafness gene, and the remaining one-quarter probability will give birth to a deaf baby. If the inherited deafness gene is carried, if not intervened, it will continue in the family, threatening the hearing and speech health of the next generation.
Hearing this, Liu Wei and his wife raised questions: Since the risk is so high, can we not conceive the next generation?
Director Zhang Kun said: "With the advancement of science and technology, your problems can be easily solved through the third generation of IVF technology (PGT-M). Using this technology, genetic tests can be performed before blastocyst transplantation to confirm that blastocysts do not carry disease-causing genes before mother transplantation. In this way, one can solve the problem of your years of infertility, and the other can achieve eugenics and eugenics, and solve the worries of both of you and your husband and wife carrying hereditary deafness genes at the same time. ”
In July 2020, Liu Wei, who received the recommendation of Director Zhang Kun, began the cycle treatment of the third generation of IVF (PGT-M), and transplanted a normal blastocyst 4 months later, and is currently pregnant for 20 weeks, and the results of various examinations show that the fetal baby is developing very healthy.
On the mainland, deafness is currently one of the genetic diseases with the highest incidence, with an incidence of up to 1-3/1000. To effectively prevent birth defects, age-appropriate couples can undergo Extended Carrier Screening (ECS) before trying to conceive. Jiayin Hospital has taken the lead in carrying out ECS screening in Xinjiang and even in China since 2019, and this technology can detect 456 genetic diseases, including hereditary deafness genes, at one time, which can effectively provide fertility guidance for pre-pregnancy couples and nurture a healthy next generation.