1. Suitable population for which chromosome screening is recommended
·Couples with a history of repeated miscarriages or fetal arrest
If 2 or more consecutive spontaneous abortions or embryonic failure occur, it may be related to chromosomal abnormalities (such as balanced translocations and inversion), and the cause needs to be clarified through screening.
Egg aging leads to a significant increase in the risk of chromosomal aneuploidy. Even if IVF is successful, the rate of embryo abnormalities increases with age.
Aging eggs significantly increase the risk of chromosomal abnormalities. Even if in vitro fertilization is successful, the rate of embryonic abnormalities still increases with age.
If there are patients with chromosomal diseases such as Down's syndrome and Turner's syndrome in the family, or if they have given birth to children with mental retardation and multiple malformations, their parents 'chromosomes need to be screened for genetic risks.
If there are individuals in the family who suffer from chromosomal disorders such as Down syndrome or Turner syndrome, or if there have been children born with intellectual disabilities or multiple congenital malformations, it is necessary to screen the parents for any genetic risks related to these conditions.
If multiple embryo transfers fail to implant successfully or early abortion, it may be related to chromosomal abnormalities in the embryo, and screening can help screen healthy embryos.
If multiple embryo transfers fail to result in successful implantation or early miscarriages, it may be related to chromosomal abnormalities in the embryos. Screening can help identify healthy embryos for transfer.
If men have severe oligospermia, women have primary amenorrhea, or have hermaphroditism, genital organ abnormalities, etc., sex chromosome abnormalities need to be checked (such as Klinefter's syndrome, Turner's syndrome).
If a man has severe oligoasthenospermia, or if a woman experiences primary amenorrhea, or if there are abnormalities in the reproductive organs, it is necessary to check for chromosomal abnormalities (such as Klinefelter's syndrome, Turner syndrome).
Exposure to radiation and chemical poisons may induce chromosomal mutations, so it is recommended to conduct screening before preparing for pregnancy.
Radiation exposure and chemical poisoning can potentially cause chromosomal abnormalities. It is recommended to undergo screening before planning to conceive.
2. The core role of chromosome screening in vitro pregnancy preparation
·Abortion risk reductionscreening can identify chromosomal aneuploidy in embryos (such as trisomy 21) and reduce miscarriages caused by abnormalities in the embryo.
·Blocking the transmission of genetic diseases For couples carrying genetic disease genes, PGT-M technology can accurately screen healthy embryos and avoid the inheritance of the disease.
·Block the transmission of genetic diseasesFor couples carrying genes associated with genetic diseases, PGT-M technology allows for the precise selection of healthy embryos, thereby preventing the transmission of these diseases to future generations.
3. Precautions for chromosome examination
·The timing of the examination isrecommended to complete the screening 3-6 months before pregnancy preparation. If the test tube cycle has been entered, it needs to be performed before ovulation promotion or during the embryo culture stage according to the doctor's recommendation.
·sample typeGenerally, 3-5 ml of peripheral blood is drawn (no fasting required). In some cases, samples such as amniotic fluid or embryonic cells may also be needed.
·It is necessary to discontinue the use of antibiotics and hormonal medications 1-2 weeks before the examination, to avoid interfering with the test results.
·interpretation of the resultsStructural abnormalities such as chromosomal translocations may not present any obvious symptoms, but they can increase the risk of miscarriage. Therefore, it is necessary to consult with a genetic counselor to develop a suitable fertility plan.
4. Technological progress: How chromosome screening can help accurately prepare for pregnancy
·The third-generation in vitro fertilization technology (PGT)can screen 23 pairs of chromosome numerical abnormalities and single gene diseases through pre-implantation genetic testing, significantly reducing the rate of birth defects.
·Non-invasive prenatal screening (NIPT)In the early stages of pregnancy, fetal chromosomal abnormalities can be detected through free DNA testing in maternal blood, thereby reducing the risk of invasive procedures.
·multidisciplinary collaborationThe Reproductive Medicine Department, Genetics Department, and Pediatrics Department work together to provide comprehensive support for couples with chromosomal abnormalities, covering everything from screening to reproductive assistance.
Chromosome screening is a "safety lock" for in vitro pregnancy preparation, especially for people who are elderly, have a history of poor pregnancy or genetic risks. It is recommended that couples intending to be pregnant should choose screening items based on individual circumstances under the guidance of professional doctors to scientifically avoid risks. If the screening results are abnormal, there is no need to be overly anxious. Through genetic counseling and advanced technology, there is still a chance to welcome a healthy baby.
