1. Reproductive dilemma caused by chromosome abnormalities
Chromosomal abnormalities include numerical abnormalities (such as Down's syndrome trisomy 21) and structural abnormalities (such as balanced translocations, inversion, etc.), which may lead to repeated miscarriages, fetal birth defects, or intellectual impairment. During natural conception, the abortion rate of embryos with abnormal chromosomes is as high as 15%-20%. Even if the pregnancy is successful, the fetal health risk is still significantly higher than that of the general population. Traditional prenatal diagnosis requires testing through amniotic fluid puncture and other means in the second trimester of pregnancy. If abnormalities are found, the pregnancy needs to be terminated, which causes a double blow to women's physical and mental health.
Second and third generation test tube technology: blocking chromosomal diseases from the root cause
The third-generation in vitro fertilization technology (PGT) performs genetic screening before embryo transfer and directly excludes abnormal embryos from the source. Its core advantages are reflected in the following three aspects:

1. Accurate screening covering the entire genome
PGT technology performs whole-genome analysis of 23 pairs of chromosomes of embryos through means such as high-throughput sequencing (NGS) or fluorescence in situ hybridization (FISH). It can detect balanced translocations, Roche translocations, microdeletions/duplications, etc. Structural abnormalities, as well as problems such as aneuploidy (such as trisomy and monomer), the screening accuracy rate exceeds 95%.
PGT technology utilizes high-throughput sequencing (NGS) or fluorescence in situ hybridization (FISH) methods to perform comprehensive genomic analysis of the 23 pairs of chromosomes in embryos. This technique can detect structural abnormalities such as balanced translocations, Robertsonian translocations, microdeletions/duplications, as well as issues related to aneuploidy (e.g., trisomies, monosomies). The accuracy of this screening method exceeds 95%.
Clinical data shows that PGT technology can reduce the abortion rate caused by chromosomal abnormalities from 15%-20% of natural pregnancies to less than 5%, and reduce the incidence of fetal chromosomal diseases by more than 90%.
,PGT15%-20%5%,90%.For example, after carriers of balanced chromosomal translocation pass PGT screening, the probability of having a healthy fetus alive increases to 60%-70%.
Traditional prenatal diagnosis requires a cyclical process of pregnancy-screening-induction of labor, while PGT technology can complete embryo screening before pregnancy, reducing the damage to the uterus caused by multiple miscarriages and avoiding ethical disputes.
Traditional prenatal diagnosis involves a series of steps: pregnancy screening, and then induction of labor. In contrast, PGT technology allows for embryo screening before conception, thereby reducing the damage to the uterus caused by multiple miscarriages. At the same time, it avoids any ethical controversies that may arise from such procedures.
Thirdly, which groups of people should be given priority in considering third-generation IVF methods?
·Repeated miscarriages or failed transfer: More than 2 spontaneous abortions or 3 failed embryo transfers may be related to chromosomal abnormalities in the embryo
·Elderly childbearing group: For women aged ≥35 years old, the risk of egg chromosome aneuploidy is significantly increased. PGT can screen high-quality embryos
·Families at high risk of genetic diseases: There is a history of monogenic genetic diseases (such as thalassemia, hemophilia) or chromosomal diseases in the family.
· Families with a high risk of genetic diseases: There is a history of single-gene genetic disorders within the family (such as thalassemia or hemophilia), or chromosomal diseases.
Although PGT technology has significant advantages, it is still important to pay attention to its limitations:
·Difficulty in detecting minor mutations: Current technology may miss diagnosis of 5%-10% of minor chromosomal segment deletions/duplications
·Personalized plan needs: Multi-disciplinary collaboration such as genetic counseling and prenatal diagnosis needs to be combined to formulate personalized screening strategies.
· Individualized treatment plans are required. These plans should be developed through collaborative efforts involving genetics counseling, prenatal diagnosis, and other relevant disciplines.
The third-generation IVF technology provides scientific and safe fertility solutions for families with chromosomal abnormalities through genetic screening before embryo implantation.
,,.With the continuous iteration of genetic testing technology, the testing accuracy and scope of application of PGT will be further expanded in the future, helping more families realize their dreams of eugenics and postnatal care.