Gynecology, Obstetrics and In Vitro Fertilization Specialist Op. Dr. Seval Taşdemir made statements about down syndrome, saying that information can be obtained whether the baby has down syndrome or not with double tests during pregnancy.
Down syndrome can be diagnosed before birth
Down syndrome (also known as trisomy 21 or mongolism) is a chromosomal anomaly that causes mental retardation. It is characterized by having 3 of the twenty-first chromosome, which should be 2. The reason why it is called Mongolian among the public is because the facial structure of people with Down syndrome resembles the Mongolian race in Asia. Of the 23 pairs of chromosomes in a normal person, the 21st chromosome is 3 in people with Down syndrome. It is seen in 1 in 1,000 live births.
People with Down syndrome have a flat facial profile when they are born. They have differences such as a flattened nasal bridge, a small nose, an abnormality in ear shape, a single and deep line on the palm, an abnormal gap between the first and second toes, and a larger tongue compared to the size of the mouth. When they reach adulthood, they usually only reach the mental capacity of an 8-10 year old child. That's why they live dependent on someone and need special education.
What is the double screening test?
Down syndrome symptoms of the baby in the womb, double, triple, quadruple screening tests It can be detected in pregnancy ultrasonography. Apart from these tests, chromosome analyzes performed by taking samples from the baby's placenta or amniotic fluid help make a definitive diagnosis. The older the expectant mother, the more likely the baby will be born with Down syndrome. However, since women over the age of 35 are frequently screened during pregnancy, babies with Down syndrome are born more frequently in women under the age of 35.
When is the double screening test performed?
11- 14. This test, also known as the week screening test or nuchal translucency test, is a laboratory screening test performed on a blood sample taken from the mother at the same time as an ultrasonographic examination performed between the 11th and 14th weeks of pregnancy.
Nuchal translucency measurement; Ultrasound measurement of fluid accumulation in the skin-subcutaneous space at the nape of the baby's neck in the womb. It is done by cutting. This fluid is normally present in every baby up to a certain limit. In cases where NT measurement increases, the possibility of both chromosomal and structural disorders increases. This test is performed to evaluate the risk of Down syndrome and other chromosomal abnormalities and to diagnose structural abnormalities that may be present in the fetus.
Down syndrome symptoms during pregnancy
The appearance of holes between the heart chambers. Enlargement of the ventricles within the brain. Deficiency in intestinal formation. Nuchal thickness; Cystic Hygroma increased by more than 3 mm; Fluid accumulation under the skin of the neck due to a disorder or blockage in the lymph system. Hydrops fetails; Swelling of at least two of the baby's three internal cavities, namely the belly, chest and heart, due to excess fluid collection. Short upper arm bone, short upper leg bone, absence of nasal bone, separation of the big toe. The tiny bone in the middle of the fifth finger is small, and the tip of the finger looks larger than the hand. Short ear length. Early growth retardation.
If Down syndrome is diagnosed during pregnancy, the baby can be legally aborted until the 24th week. There is no cure for Down syndrome. It is the family's decision whether to abort the baby or not. However, they should be informed by experts that their future baby is a special child and that they should organize their future lives accordingly.
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