What Does Non-invasive Chromosome Abnormality Mean?

Update Date: 2024-05-18 Source: Network

With the advancement of medical technology, various examination techniques can be used during pregnancy to detect possible fetal malformations. Non-invasive chromosomal testing is a typical method. Some pregnant women undergo non-invasive chromosomal testing and the results indicate abnormalities. For ordinary people, it is difficult to truly understand the implications of these results. So, what does non-invasive chromosomal abnormality mean?

1. What does non-invasive chromosomal abnormality mean?

Non-invasive DNA is currently a commonly used prenatal examination item for screening fetal chromosomal malformations. Its accuracy and comprehensiveness are higher than that of Down's syndrome screening. Non-invasive DNA mainly detects trisomy 21, trisomy 18, and trisomy 13. Of course, it also detects other chromosomes, but the accuracy is relatively low. Sometimes non-invasive results suggest possible abnormalities in sex chromosomes, such as abnormalities in the number of sex chromosomes or the presence of microdeletions and microduplications. This is just a suggestion and cannot be used as a confirmed result. When non-invasive sex chromosomal abnormalities are found, further amniotic fluid aspiration is needed for confirmation. Because amniotic fluid aspiration is a diagnostic test that can directly answer whether there are problems with the fetal sex chromosomes.

2. What is chromosomal abnormality?

Chromosomal abnormalities can lead to miscarriages, stillbirths, and birth defects. Even if the child's external development appears normal, they may still carry abnormal chromosomes, and their offspring may experience the same problems as their parents due to genetic defects. These genetic defects cannot be solved through medication. Common diseases caused by chromosomal abnormalities include Down's syndrome, Patau syndrome, and Turner syndrome. Chromosomal abnormalities will inevitably affect the normal development of the fetus. Therefore, it is important to check the chromosomes for abnormalities before pregnancy. Fetuses with chromosomal abnormalities generally miscarry during pregnancy. Even if they are saved, they may be born with malformations or intellectual disabilities. Therefore, it is crucial to trust science and terminate pregnancies with chromosomal abnormalities as early as possible to avoid lifelong suffering.

3. Is non-invasive chromosomal abnormality accurate?

1. Chromosomal abnormalities can be prevented through PGD/PGS technology, which excludes genetic defects and effectively avoids 125 kinds of inherited diseases such as Down's syndrome. The third-generation in vitro fertilization method can greatly reduce the rate of congenital malformations in children and the risk of miscarriage due to embryonic chromosomal abnormalities in women, thereby ensuring the health of the baby.

2. Amniotic fluid aspiration and, if necessary, comprehensive chromosomal testing may be required. Sex chromosome abnormalities can lead to many congenital malformations. To determine which parent is affected, a couple chromosome test can be performed. This should be taken seriously.

3. Non-invasive DNA testing for chromosomes uses next-generation DNA sequencing technology to sequence free DNA fragments in the mother's peripheral blood plasma and analyze the sequencing results using bioinformatics to detect whether the fetus has chromosomal diseases.