Can you detect Down syndrome children in the womb?

Down syndrome is one of several genetic chromosome disorders characterized by an increase in the number of chromosomes. Normally, the total chromosome for each fetal cell in the womb should be 46 pairs. But not for a fetus with Down syndrome, which instead has 47 chromosomes. Actually, is there a way to detect a Down syndrome child since he is still in the mother's womb?

How to detect Down syndrome children in the womb

If the ideal chromosomes in each cell should be 23 which are inherited from the mother, and the remaining 23 from the father. Babies with Down syndrome have an additional chromosome 21. This chromosome 21 can occur during the development of eggs from the mother, sperm from the father, or during the formation of the baby's embryo.

This is why in the end the total number of baby chromosomes is not 46 pairs for each cell, but one becomes 47. Because the baby's chromosomes have been formed since they are still in the womb, in-depth examinations can be done before the baby is born.

There are two ways to detect Down syndrome in a baby in the womb, namely:

Screening test

Screening may not be able to give accurate results regarding Down syndrome, but at least it can provide a specific picture if the baby has this risk. You can do a screening test from the early trimester of pregnancy, by:

Blood test, which will measure the levels of plasma protein-A (PAPP-A) and the pregnancy hormone human chorionicgonadotropin / hCG). An abnormal amount of these two hormones can indicate a problem with the baby.
Ultrasound examination, usually performed after entering the second trimester of pregnancy, will help identify any abnormalities in the baby's development.
A nuchal translucency test, this method is generally combined with an ultrasound that will check the thickness of the neck behind the fetus. Too much fluid in this area indicates an abnormality in the baby.

Diagnostic test

Compared to screening tests, the results of diagnostic tests are much more accurate as a way of detecting Down syndrome in infants. But not for all women, this test is usually more aimed at pregnant women whose babies are thought to be at high risk of developing abnormalities during pregnancy, including Down syndrome.

Therefore, when the results of your screening test suggest Down syndrome, the following diagnostic tests can clarify the results:

Amniocentesis, is done by inserting a needle through the mother's uterus. The goal is to take a sample of the amniotic fluid that protects the fetus. The sample obtained is then analyzed to find out any abnormal chromosomes. This procedure can be done during 15-18 weeks of pregnancy.
Chorionic villus sampling (CVS), almost similar to amniocentesis. Only difference, this procedure is done by inserting a needle to take a sample of cells from the placenta of the baby. This procedure can be done within 9-14 weeks of pregnancy.

Can Down syndrome be recognized when the child is born?

Certainly can. Facial expression is the most common sign seen when a child has Down syndrome. The size of the head that tends to be smaller, the neck is short, the muscles are less well-formed, the palms are wide and the fingers are short, are some other signs to know if a child has Down syndrome or not.

Even so, it does not rule out that down syndrome can also appear without certain symptoms. To be more sure, there are a series of tests that need to be done. This test, called a chromosome karyotype, is done by taking a sample of the baby's blood and then examining the number and structure of the chromosomes in their body.

If later it is found that there are additional chromosome 21 in some or even all cells, then the baby has Down syndrome.