The diagnosis of Down syndrome can be made during pregnancy through specific tests such as nuchal translucency, cordocentesis and amniocentesis, which not every pregnant woman needs to do, but which is normally recommended by the obstetrician when the mother is over 35 years old or when the pregnant woman has Down syndrome.
These tests can also be requested when the woman has already had a baby with Down syndrome, if the obstetrician observes any changes on the ultrasound that leads him to suspect the syndrome or if the baby’s father has a mutation related to chromosome 21.
The pregnancy of a baby with Down syndrome is exactly the same as that of a baby who does not have this syndrome, however, more tests are needed to assess the health and development of the baby, which should be a little smaller and weigh less for the baby. gestational age.
Exams during pregnancy
Some tests can be carried out during pregnancy to assess the probability of the baby having Down syndrome and, thus, allowing parents to prepare to welcome a baby with this change. The main exams that can be carried out are:
- Collection of chorionic villi, which can be done in the 9th week of pregnancy and consists of removing a small amount of placenta, which has genetic material identical to that of the baby;
- Maternal biochemical profile, which is carried out between the 10th and 14th week of pregnancy and consists of carrying out tests that measure the amount of a protein and the amount of the beta hormone hCG produced during pregnancy by the placenta and the baby;
- nuchal translucencywhich can be indicated in the 12th week of pregnancy and aims to measure the length of the baby’s neck;
- Amniocentesiswhich consists of taking a sample of the amniotic fluid and can be carried out between the 13th and 16th week of pregnancy;
- Cordocentesiswhich corresponds to the removal of a blood sample from the baby through the umbilical cord and can be done from the 18th week of pregnancy.
By carrying out these tests, the doctor can observe whether the baby’s development is adequate for the gestational age and assess whether there is a change in chromosome 21, which is related to Down syndrome.
How is the diagnosis after birth
When the diagnosis is not made during pregnancy, it is possible to confirm Down syndrome shortly after birth by observing some characteristics, such as:
- Another line on the eyelid of the eyes, which makes them more closed and pulled to the side and upwards;
- Only 1 line on the palm;
- Wider nose;
- Face plana;
- Large tongue, very high roof of the mouth;
- Lower and smaller ears;
- Fine and thin hair;
- Short fingers, and the little finger may be crooked;
- Greater distance between the big toe and the other toes;
- Wide neck with accumulation of fat;
- May have an umbilical hernia.
The more characteristics the baby presents, the greater the chances of having Down syndrome, however, around 5% of the population also has some of these characteristics and having just one of them is not indicative of this syndrome. Therefore, it is important that blood tests are carried out to identify the mutation characteristic of the disease. Check out other characteristics of Down syndrome.
Children with Down Syndrome also have delayed psychomotor development and begin to sit, crawl and walk later than expected. In addition, they generally have a mental retardation that can range from mild to very severe, which can be verified through their development. See more details about the development of a baby with Down syndrome.
Watch the following video and learn how to stimulate the development of a baby with Down syndrome:
