How to treat chromosomal abnormalities
Sep 13, 2022
Source: Cainiu Health
Dr. Chen Zhe
Introduction
Chromosomal abnormalities are congenital genetic disorders. If fertility is affected, individuals can go to the hospital for relevant examinations and appropriate treatments. In cases of chromosomal abnormalities, most patients may consider undergoing third-generation in vitro fertilization (IVF). With third-generation IVF, embryos carrying chromosomal abnormalities can be identified and excluded, allowing selection of developmentally normal embryos for intrauterine transfer and subsequent delivery.
Chromosomal abnormalities generally occur during embryonic development and may lead to miscarriage or infertility. Currently, there is no medical treatment available for chromosomal abnormalities. How are chromosomal abnormalities treated?
How Are Chromosomal Abnormalities Treated?
Chromosomal abnormalities are congenital genetic disorders. If fertility is affected, individuals can visit a hospital for relevant examinations and symptomatic treatments. For those with chromosomal abnormalities, most may consider undergoing third-generation in vitro fertilization (IVF). With third-generation IVF, embryos carrying chromosomal abnormalities can be identified and excluded, allowing only chromosomally normal embryos to be selected for intrauterine transfer and subsequent pregnancy. In naturally conceived pregnancies, chromosomal abnormalities often result in inherited issues and abnormal embryo development. Therefore, if chromosomal abnormalities are suspected, it's essential to undergo genetic testing and appropriate evaluation at a hospital. There are currently no medications available for targeted treatment.
Generally, during early pregnancy, an NT scan (nuchal translucency screening) can be performed to screen for fetal chromosomal abnormalities. Then, between 15 and 20 weeks of gestation, a Down syndrome screening test can be conducted to further assess the risk of chromosomal abnormalities. If either the NT scan or Down syndrome screening indicates high risk, further diagnostic testing is recommended. Non-invasive prenatal DNA testing (NIPT) or amniocentesis may be performed for definitive diagnosis.
Current management mainly involves symptomatic treatment and surgical correction of organ malformations. Gene therapy, cell therapy, and replacement therapies are also under development. However, treating chromosomal abnormalities remains challenging, and therapeutic outcomes are often unsatisfactory. We hope this information has been helpful. Wishing you good health and happiness!
