Can I keep the baby if the Down syndrome screening is abnormal?

As we all know, women need to do many prenatal checkups during pregnancy, and Down syndrome screening is a prenatal checkup method to check whether the fetus suffers from triploidy syndrome. Especially for older mothers, it must be paid attention to. So, what should I do if there is an abnormality in the Down syndrome screening? Let’s find out together.

What should I do if there are abnormalities in Down syndrome screening?

If there are any abnormalities in the Down syndrome screening, it is best to do further testing. It is recommended that you do an amniocentesis test for pregnant women. But there are certain risks, and you must discuss it with your family.

Down screening is the general name for prenatal selection tests for Down syndrome. It is one of the must-do items in pregnancy checkups. It is a test method that extracts blood cells from pregnant women and tests the levels of some biochemical indicators in the mother's blood cells to select high-risk pregnant women with fetal aneuploidy trisomy 21 and trisomy 18, and calculate the risk of giving birth to a child with Down syndrome. Down syndrome screening is divided into early pregnancy and mid-pregnancy, and what we usually call Down screening refers to the Down syndrome screening conducted in mid-pregnancy.

Early Down syndrome screening

Down syndrome screening in early pregnancy is a combination of nuchal translucency (NT) screening with B-ultrasound examination and blood cell biochemical examination results to conduct a risk assessment on the possibility of a fetus with sex chromosome genetic diseases in expectant mothers. Early Down syndrome screening can detect a very high proportion of Down syndrome and other chromosomal abnormalities, but because the accuracy of the nuchal translucency scanner is determined by many factors, including the level of the ultrasound physician and the accuracy of the scanner used, early pregnancy Down syndrome screening still has certain defects. If Down syndrome screening fails in the early stage, you can do nothing or do related tests for diagnosis, such as amniocentesis, for a more detailed diagnosis.

Mid- to late-stage Down syndrome screening

The mid-pregnancy Down syndrome screening involves extracting blood cells from maternal and infant products to test the concentrations of alpha-fetoprotein (AFP) and human gonadotropin (hCG) in the mother's blood cells, as well as free estriol (uE3) and inhibin A. The risk of having a child with Down syndrome is calculated based on the increase or decrease of these markers in the mother's blood cells and the mother's due date, age, weight and gestational age at the time of blood collection. When a high-risk condition is found in the middle or late stage of Down syndrome screening, a more detailed diagnosis can be made through fetal anomaly screening, amniocentesis, or fur cell counting or minimally invasive DNA testing.

Why do Down syndrome screening?

Check the actual significance

Down syndrome screening is used for special groups who do not have any corresponding symptom signs (such as all pregnant women). Through the test, key subjects who are most likely to suffer from Down syndrome can be selected for subsequent diagnosis-related examinations. Down syndrome has not been eradicated medically so far, so the key approach to controlling the occurrence of Down syndrome is to prevent or reduce the birth of patients. But one thing that needs to be established is that the purpose of screening is not to diagnose a certain disease, but to select people who are very likely to have a certain disease.

necessity

All pregnant women have the potential to conceive a baby with Down syndrome. "According to the birth defect detection data based on hospital outpatient clinics of the Ministry of Health from 2001 to 2006, 800,000 to 1.2 million babies with birth defects are born in my country every year." Down syndrome screening is a survey work currently carried out on all pregnant women in my country to prevent the birth of children with congenital mental retardation.

From a medical perspective, Down syndrome screening is very necessary and pregnant mothers must pay enough attention to it. Down syndrome screening can reduce the birth rate of Down syndrome children. Down syndrome children will have serious multiple developmental malformations (unusual appearance, congenital heart disease, abnormal function of major internal organs and physical abnormalities), accompanied by severe intellectual disabilities, and are basically unable to be independent in daily life. Most patients die before the age of 18. Therefore, in order to prevent the birth of children with congenital idiocy and ensure early detection and early treatment, prenatal Down syndrome screening is very important. Data show that "through strict quality control of early pregnancy NT screening, the diagnosis rate of 21-trisomy fetuses can exceed 80%, and the diagnosis rate of other chromosomal abnormalities can exceed 70%. If combined with maternal blood cell testing, the diagnosis rate can be further improved."