Down syndrome: early diagnosis in pregnancy

Down syndrome: early diagnosis in pregnancy

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The Down's Syndromeis a genetic disorder caused by the presence of an extra copy of chromosome 21. A trisomy of pair 21 occurs, which is characterized by the presence of a variable degree of cognitive disability and peculiar physical features that give a recognizable appearance to the affected child with Down syndrome.

The exact causes of Down syndrome chromosomal excess are still unknown, although it is statistically related to a maternal age greater than 35 years. Children with Down Syndrome are predisposed to suffer from some heart, digestive and endocrine pathologies, due to the excess of proteins synthesized by the extra chromosome.

Common features include its peculiar physiognomy, a general lack of muscle tone, a variable degree of cognitive disability and growth retardation.

The risk of Down syndrome in the baby can be determined early with the triple screening test and with the ultrasound of the first trimester of pregnancy that measures nuchal translucency. Both tests can give positive markers, but the certainty of Down syndrome is only obtained after an amniocentesis that analyzes, through a sample of fetal amniotic fluid, the genetic material.

Cryonic villus analysis allows diagnosis of Down syndrome or, more frequently, confirm that it is not present. Because both amniocentesis and chorionic villus testing are procedures that carry a small risk of infection or loss of the fetus, they are generally offered only to those women whose chances of having a baby with chromosomal or other birth defects are higher than normal.

Doctors often suggest performing an amniocentesis when a woman has an abnormal result on the alpha-fetoprotein (AFP) test, a blood test that is done around the 16th week of pregnancy. This test can detect the presence of Down syndrome in about 35 percent of cases. A newer version of this test, which measures AFP and also the levels of two pregnancy hormones, can apparently detect the presence of Down syndrome in about 60 percent of cases. However, these blood tests are not used to diagnose the syndrome conclusively, as they are only preliminary tests that indicate the need for amniocentesis.

Generally speaking, the chances of conceiving another baby with Down syndrome in each subsequent pregnancy are 1 percent, plus the mother's own risk based on her age. Nevertheless, If the first child has Down syndrome, the chances of having another child with Down syndrome are greatly increased. Usually, when a baby is suspected of having Down syndrome, doctors take a sample of their blood for a chromosome analysis (called a karyotype). This test is used to determine if the baby has Down syndrome and to identify the corresponding chromosomal abnormality. This information is important in determining the risk to parents in future pregnancies. In this way, the parents can be referred to a geneticist who can explain the results of this analysis in detail and indicate the risks of a recurrence of this phenomenon in another pregnancy.

Couples who have already had a baby with Down syndrome, mothers or fathers whose chromosome 21 has been rearranged, and mothers over 35 years of age are most at risk. The risk of Down syndrome increases with the age of the pregnant mother. Thus, approximately one in 1,250 children is at risk of being born with Down syndrome in a 25-year-old woman. However, that risk increases to one in 952 by the age of 30, and continues to rise to one in 378 children when the mother reaches 35 years of age. By age 40, the risk of having a baby with Down syndrome rises to one in 106 babies.

Sources consulted:
- Fundació Catalana Síndrome de Down
- Down-Valencia Syndrome Foundation
- Spanish associations
- International associations

You can read more articles similar to Down syndrome: early diagnosis in pregnancy, in the Down Syndrome category on site.

Video: Raising a baby with Down Syndrome (June 2022).


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