What can non-invasive prenatal screening detect?

Nowadays, the birth rate of children with birth defects in our country is constantly increasing, which brings great harm to babies and families. In order to avoid neonatal defects, many pregnant mothers are very active in doing prenatal examinations. This is a question that pregnant mothers who are experiencing non-invasive prenatal genetic screening for the first time want to know. So, what can non-invasive prenatal screening detect?

(1) All pregnant women who wish to exclude fetal chromosomal aneuploidy, especially aneuploidy of chromosomes 21, 18, and 13;

(2) Pregnant women who are at high risk or near high risk for Down syndrome screening;

(3) Pregnant women who are over 35 years old and cannot undergo Down syndrome screening and are unwilling to undergo invasive examinations;

(iv) Pregnant women with a history of unexplained spontaneous abortion, malformation, stillbirth or fetal death;

(5) Those with abnormal fetal ultrasound examination results;

(6) Pregnant women who missed the best time for Down syndrome screening or amniocentesis;

(VII) Pregnant women whose cell culture after amniocentesis failed and whose karyotype analysis results were not obtained;

(8) Pregnant women with special physical conditions (such as uterine fibroids, panda blood, some infectious diseases, etc.).

What is a chromosomal disease? 】

Chromosomal diseases refer to diseases caused by abnormalities in the number or structure of chromosomes. The essence of this type of disease is that the increase, decrease or displacement of genes or gene groups on chromosomes affects the expression and function of many genes, destroys the balance of genes, and thus hinders the differentiation and development of related organs of the human body, causing abnormalities in the body's morphology and function.

[Down syndrome screening has high risk and high missed diagnosis rate. Non-invasive genetic testing is the best choice for screening chromosomal diseases]

Chromosomal diseases are now mostly diagnosed through Down syndrome screening, but this is very dangerous for older pregnant women because it can easily cause the risk of miscarriage. Therefore, many older pregnant women are reluctant to do Down syndrome screening. However, these chromosomal diseases are most common in older pregnant women. Therefore, if older pregnant women do not do Down syndrome screening, the chances of giving birth to a baby with a chromosomal disease are very high.

Non-invasive genetic testing is the same as Down syndrome screening, which only requires a blood draw from the arm, avoiding the increased risk of miscarriage caused by amniocentesis or chorionic villus sampling. Pregnant women whose Down syndrome screening shows a low risk can undergo non-invasive genetic testing to rule out possible missed detections by serological screening; if the serological Down syndrome screening shows a high risk pregnant woman, non-invasive genetic testing can also be performed to rule out false positives from serological screening and minimize the risks and harms caused to pregnant women and fetuses by invasive prenatal diagnosis.

The above is a brief introduction to what non-invasive prenatal screening can reveal. I believe everyone should have a clear understanding of it. What we need to remind you here is that the incidence of fetal defects in our country is constantly increasing. For the health of the baby, pregnant mothers must be able to grasp the detection time.