Recently, the Reproductive Medicine Center of Gansu Provincial Maternal and Child Health Hospital used the third generation of IVF technology to successfully block the X chromosome recessive inheritance of ichthyosis in the mother, so that a couple carrying the disease gene was happy to have a healthy baby and a happy family.
Medical staff and babies (Courtesy of Provincial Maternal and Child Health Hospital)
Xiaolan (pseudonym) got married in 2018, was happy and happy after marriage, and soon had love crystallization. Xiaolan's amniotic fluid puncture at high risk due to Tang screening at the 17th week of pregnancy showed that the male fetus was missing 1.70Mb area at the X chromosome P22.31, which contained the entire STS (steroid sulfatase) gene, which can cause the accumulation of sulfuric acid cholesterol, and the stratum corneum cells are tightly bound and cannot fall off normally, forming scales.
According to reports, with such genes, the child will definitely suffer from ichthyosis after birth. Ichthyosis is a group of hereditary keratosis skin diseases that manifest as dry skin with scaly desquamation, which can cause skin damage. Although ichthyosis is not as painful as other diseases, it does far more harm to people than pain.
After genetic counseling, the Xiaolan couple chose to induce labor and terminate the pregnancy. Subsequently, they performed chromosomal aberration tests, and the results showed that the Xiaolan X chromosome carried the same pathogenic deletion as the diseased fetus, and the husband's chromosome was normal. After pre-examination, genetic counseling, and family pre-testing, the two underwent preimplantation genetic testing (PGT) to help them conceive. After preliminary evaluation, an ovulation induction program was formulated, 23 eggs were obtained, 19 mature eggs were obtained, and finally 3 usable blastocysts were obtained. After an embryo biopsy and genetic testing of the biopsy sample, the Center for Reproductive Medicine team found that only one of the embryos did not carry the disease-causing gene mutation. In the end, this precious and high-quality embryo was transferred to the mother and successfully conceived, and at 18 weeks of pregnancy, the prenatal diagnosis of amniocentesis was confirmed to be consistent with the results of the previous embryo test. On March 12, Xiaolan caesarean section delivered a healthy baby boy weighing 2830 grams, the newborn scored well, and the mother and child were safe.
Experts pointed out that the three lines of defense against birth defects are pre-marital testing, prenatal screening and diagnosis, and newborn screening. Preimplantation genetic testing (PGT), the third generation of IVF technology, is one of the "important weapons" for the prevention and control of birth defects at the first level. In simple terms, PGT technology is to perform a "physical examination" of embryos in the laboratory, and then select healthy, qualified embryos to be transferred into the mother's womb to continue to develop. Through the accurate screening of embryos by PGT technology, the birth of children with genetic diseases can be completely blocked from the family, which is truly once and for all.
Source: Lanzhou Daily all-media reporter Tian Xiaodong
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