There is no cure for Down syndrome, which is medically known as trisomy 21 chromosomal abnormality, or what we commonly call congenital stupidity. About 4% of those with congenital dysmorphism are genetically caused, while most cases are caused by genetic mutations and can only be detected early through Down’s syndrome screening. Down’s syndrome screening is the safest, most effective and convenient way to prevent the birth of Down’s syndrome babies. For the healthy growth and development of the fetus, it is important for pregnant women to have Down’s screening during their maternity checkups.
The first of these is the first of a series of tests that will be carried out in the future. For example, the genius conductor Zhou Zhou was diagnosed as a person with Down syndrome due to an extra chromosome 21 pair at birth due to a genetic variation.
What is Down’s syndrome screening?
It is the prenatal screening of fetuses with Down’s syndrome. It is an important indicator for screening fetuses for trisomy 21 by taking blood tests from pregnant women. The results of the screening can determine whether the fetus has a congenital mental defect and the risk of Down syndrome in the fetus. If the screening result is high risk, further confirmatory testing – amniocentesis – is required.
Pregnant women should always be screened for Down’s syndrome
Children with Down’s syndrome are severely mentally retarded, unable to care for themselves, and carry a variety of complications that are incurable throughout their lives. In China, the high incidence of Down’s syndrome brings heavy emotional and financial burden to families. Although the results of Down’s syndrome screening are not very accurate in determining whether the baby is stupid or not, it is after all a simple, economical and non-invasive test for the fetus, and if the results are suspicious, amniocentesis can be performed.
Proper understanding of Down’s syndrome screening
1.How is Down’s syndrome screening done?
Down’s syndrome screening is a test that detects the concentration of alpha-fetoprotein (AFP) and chorionic gonadotropin (HGG) in maternal serum by taking the serum of the pregnant woman and combining it with her due date, age, weight and week of pregnancy at the time of blood collection to see if the fetus has chromosomal abnormalities and to determine the risk of having a child with Down’s syndrome.
2.The best time for Down’s syndrome screening
The best time for Down’s syndrome screening is from 13 weeks + 6 days of pregnancy to early and middle pregnancy. Generally speaking, the best time for Down’s syndrome screening is from 15 to 20 weeks of pregnancy.
3.Preparation and precautions for Down’s syndrome screening
Blood is drawn from a vein for Down’s syndrome screening. Pregnant women do not need to fast before the test, but it is related to menstrual cycle, weight, height, exact gestational week and gestational age. The results of the screening test are usually available to pregnant women about a week after the blood is drawn.
4.The accuracy of Down’s syndrome screening
Down’s syndrome screening is a test to screen for the possibility of Down’s syndrome in the fetus, that is to say, a high blood test index means a higher chance of having a Down’s child, but it is not certain that the fetus has a problem, and an amniocentesis test is needed to further confirm the diagnosis and to rule out the possibility of Down’s syndrome in the fetus 100%. The test can also be used to screen for neural tube defects, trisomy 18 and trisomy 13 in high-risk pregnancies.
What happens to the results of the Down’s syndrome screening?
The method of calculating the risk factor varies from hospital to hospital, but the general hospital standard for normal value is less than 1/270.
1. High risk of Down’s syndrome
Pregnant mothers with “high risk” Down’s syndrome screening results need to be diagnosed as having Down’s syndrome. The most common technique for prenatal diagnosis is amniocentesis, in which a needle is inserted into the amniotic fluid through the abdomen of the pregnant woman under the guidance of ultrasound to extract the amniotic fluid for chromosomal analysis of the fetal cells. Amniocentesis is appropriate for pregnant women between 16 and 20 weeks of gestation. Some pregnant women or their families may.
2.Low risk of Down’s syndrome screening result
If the test result is low risk, less than the standard value, it means that the chance of the fetus having Down’s syndrome is very low, and this result suggests that you do not need to risk undergoing invasive tests (various puncture tests). However, this does not mean that Down’s syndrome is definitely ruled out or that the fetus is absolutely normal (5-10% of Down’s syndrome fetuses are still missed or misdiagnosed), and you can go on to amniocentesis or cord blood aspiration for confirmation.