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 usually recommended by the obstetrician when the mother is over 35 or when the pregnant woman has Down syndrome.
These tests can also be ordered when the woman has already had a baby with Down Syndrome, if the obstetrician observes any alteration in the ultrasound that leads her to suspect the syndrome or if the baby's father has any 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 slightly less and have less weight for the baby. gestational age.
Diagnostic tests during pregnancy
The tests that give 99% accuracy in the result and serve to prepare parents for the reception of a baby with Down Syndrome are:
- Collection of chorionic villi, which can be done in the 9th week of pregnancy and consists of the removal of a small amount of placenta, which has genetic material identical to that of the baby; Maternal biochemical profile, which is done between the 10th and 14th week of pregnancy and consists of tests that measure the amount of a protein and the amount of beta hCG hormone produced in pregnancy by the placenta and the baby; nuchal translucency, which can be indicated in the 12th week of pregnancy and aims to measure the length of the nape of the baby; Amniocentesis, which consists of taking a sample of the amniotic fluid and can be performed between the 13th and the 16th week of pregnancy; Cordocentesis, which corresponds to the removal of a sample of blood from the baby by the umbilical cord and can be done from of the 18th week of gestation.
When knowing the diagnosis the ideal is that the parents look for information about the syndrome to know what to expect in the growth of a child with Down Syndrome. Find out more details of the characteristics and the necessary treatments in: How is life after the Down Syndrome Diagnosis.
How is the diagnosis after birth
The diagnosis after birth can be made after observing the baby's characteristics, which may include:
- Another line on the eyelid of the eyes, which leaves them more closed and pulled to the side and upwards; Only 1 line on the palm of the hand, although other children who do not have Down's Syndrome may also have these characteristics; Union of the eyebrows; Wider nose; Flat face; Large tongue, very high palate; Lower and small ears; Thin, thin hair; Short fingers, and the little finger can be crooked; Greater distance between the toes of the other fingers; Wide neck and with accumulation of fat; Weakness of the muscles of the whole body; Ease of weight gain; May have umbilical hernia; Higher risk of celiac disease; There may be a separation of the rectus abdominis muscles, which makes the abdomen more flabby.
The more characteristics the baby has, the greater the chances of having Down syndrome, however, about 5% of the population also has some of these characteristics and having only one of them is not indicative of this syndrome. Therefore, it is important that blood tests are done to identify the characteristic mutation of the disease.
Other characteristics of the Syndrome include the presence of heart disease, which may require surgery and an increased risk of ear infections, but each person has their own changes and that is why every baby with this Syndrome needs to be followed by the pediatrician, in addition to the cardiologist, pulmonologist, physiotherapist and speech therapist.
Children with Down Syndrome also experience delayed psychomotor development and begin to sit, crawl and walk, later than expected. In addition, it usually has a mental retardation that can vary from mild to very severe, which can be verified through its development.
Watch the following video and learn how to stimulate the development of the baby with Down syndrome:
The person with Down's Syndrome can have other health problems like diabetes, cholesterol, triglycerides, just like anyone else, but can still have autism or another syndrome at the same time, although it is not very common.
