Infertility due to genetic disorders

Ms. Phuong lost her sense of smell as a child and did not have menstruation during puberty. She and her husband had two attempts at intrauterine sperm injection (IUI) and one attempt at in vitro fertilization (IVF) but failed to create embryos for unknown reasons. She went to the Reproductive Support Center, Tam Anh General Hospital, Ho Chi Minh City for examination. Doctor Pham Thi My Tu diagnosed Kallmann syndrome. This is a genetic disorder that causes reduced reproductive function, can occur in both men and women, but the incidence of this syndrome in women is low, medical literature records 1/125,000 cases.

According to Dr. Tu, this syndrome affects the reproductive endocrine axis. The patient still has two ovaries, the ovarian reserve index (AMH) test is normal, the ultrasound can see the ovarian follicles, but the eggs do not develop to maturity, ovulation does not occur, so there can be no pregnancy. natural pregnancy.

Similarly, Mr. Hung, 29 years old, living in Binh Thuan, married for two years without children, was examined for Klinefelter genetic syndrome. This is a chromosomal abnormality that causes germ cells to not exist in the testicles, leading to reduced sperm production and infertility due to no sperm. According to medical literature, the incidence of Klinefelter syndrome is about 1/1,000 people.

Semen analysis showed no sperm and shrunken testicles. Mr. Hung was advised by a doctor at a clinic to ask for donated sperm for in vitro fertilization to have a baby.

According to Dr. Tu, these are two of many cases of infertility due to genetic disorders that have been successfully treated at IVF Tam Anh in Ho Chi Minh City. Common abnormalities include deletion mutations in the AZF gene region on the Y chromosome of men, men with Klinefelter syndrome have two or more X chromosomes in the chromosome, and other types of translocation abnormalities. chromosomes… In women, there is BPES syndrome causing premature ovarian failure, Turner syndrome (only one X chromosome in the chromosome set) and Kallmann syndrome like Ms. Phuong’s case.

Dr. Tu said the main cause comes from genetic abnormalities, so there is no definitive treatment. However, infertile couples due to this cause can still have healthy children thanks to modern infertility treatment techniques such as in vitro fertilization (IVF), embryo culture, especially genetic testing. embryo. Preimplantation genetic testing (PGT) technologies of embryos allow the selection of healthy, non-abnormal embryos to be implanted in the uterus, helping children to be born healthy.

As in Ms. Phuong’s case, amenorrhea and loss of smell cannot be cured, but it is completely possible to give birth using IVF technology. Dr. Tu developed a special ovarian stimulation regimen for patients that does not inhibit premature ovulation, helping to increase the chance of obtaining many mature oocytes. As a result, 7 oocytes qualified for IVF were obtained, along with her husband’s sperm, which yielded 3 good quality embryos. The test did not detect the disease gene that causes Kallmann syndrome in both husband and wife, so these embryos did not need to be biopsied.

Ms. Phuong became pregnant after the second embryo transfer. The son is now nearly 7 months old, developing healthily, and no abnormalities related to Kallmann syndrome have been detected.

In Mr. Hung’s case, he did not need to ask for sperm but could have a child thanks to combining micro-TESE testicular microsurgery with intracytoplasmic sperm injection (ICSI) technique. According to doctor Ngo Dinh Trieu Vy, about 75% of patients with genetic diseases that cause testicular atrophy such as Klinefelter syndrome can find sperm thanks to micro-TESE. The conception rate after IVF is 50%.

Dr. Vy and his team performed micro-TESE on Mr. Hung, and at the same time aspirated his wife’s ovaries. After using a magnifying glass to detect a potential spermatozoa in the testicle, the doctor immediately transferred it to the lab. The experts found 15 healthy sperm, just enough for the number of eggs extracted from the wife. The culture results were three embryos on day 5 and one embryo on day 6.

To avoid the risk of hereditary Klinefelter syndrome for boys, the doctor prescribed genetic screening of pre-implantation embryos, detecting two embryos that did not carry genetic abnormalities. In early April, Mr. Hung’s wife had a healthy embryo transferred into her uterus and conceived the first time. The fetus is currently 28 weeks. “I’m happy because my child can grow up healthy and have full fertility,” Mr. Hung said.

Dr. Tu recommends that couples proactively have premarital health checks because this is an effective and low-cost measure to help detect recessive genes early, preventing the possibility of having children with genetic diseases.

Infertile couples, or a history of giving birth to children with birth defects due to genetic abnormalities, when coming to IVF Tam Anh in Ho Chi Minh City will have a comprehensive reproductive health examination and necessary diagnostic tests, including laboratory tests. gene. Depending on the specific situation, the doctor will prescribe IVF by collecting eggs or embryos, microsurgery to find sperm or selectively washing sperm from ejaculate samples. After in vitro fertilization, the embryos are cultured on day 5 and genetically screened before implantation to select embryos with no genetic abnormalities and transfer them to the wife’s uterus.

“Young couples do not have many complicated health problems, except for carrying disease genes. Early fertility examination and treatment has a high success rate and significantly reduces costs,” Dr. Tu said.