What is Dual Testing in Pregnancy? How and When Is It Done?

Gynecology, Obstetrics and IVF Specialist Op. Dr. Seval Taşdemir made statements about down syndrome, saying that with the double tests to be done during pregnancy, information can be obtained whether the baby has Down syndrome or not.

Down syndrome can be diagnosed before birth

Down syndrome (also known as trisomy 21 or mongolism) is a chromosomal abnormality with mental retardation. It is characterized by the fact that there are 3 of the twenty-first chromosomes, which should be 2. The reason why it is called mongolian among the people is because the facial structure of people with Down syndrome resembles the mongolian race in Asia. Of the chromosomes that are 23 pairs in a normal person, the 21st chromosome is 3 in Down syndrome. It occurs in 1 out of 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, small nose, ear-shaped abnormality, a single deep line on the palm, an abnormal space between the first and second toes, and a wider tongue than the size of the mouth. When they reach adult age, they can only reach the capacity of an 8-10-year-old child in terms of mental age. Therefore, they live dependent on someone and need special education.

What is a dual screening test?

Down syndrome symptoms of the baby in the womb can be detected in pregnancy ultrasonography together with double, triple and quadruple screening tests. Apart from these tests, chromosome analyzes by taking samples from the placenta of the baby or the amniotic fluid in which it is present help to make a definitive diagnosis. The older the mother, the higher the probability of the baby being born with Down syndrome. However, women over 35 years of age are more likely to have a baby with Down syndrome because of frequent screening during pregnancy.

When is the dual screening test done?

11-14. This test, also known as 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 the ultrasonographic examination performed between the 11th and 14th weeks of pregnancy.

Nape thickness measurement; It is done by measuring the fluid accumulation in the skin-subcutaneous space in the nape of the baby in the mother’s womb with ultrasound. This fluid is normally present up to a certain limit in every baby. In cases where the NT measurement is increased, the probability of both chromosomal and structural disorders increases. This test is done to assess the risk of Down syndrome and other chromosomal abnormalities, to diagnose any structural abnormalities that may be present in the fetus.

Down syndrome symptoms during pregnancy

Appearance of holes between the heart chambers. Enlargement of the ventricles in the brain. Deficiency in intestinal formation. Nape thickness; Increased by more than 3 mm Cystic Hygroma; Fluid accumulation under the skin of the neck due to a disorder or obstruction in the lymphatic system. Hydrops fetails; Swelling of at least two of the baby’s three internal cavities, namely the navel, chest and heart, by collecting excess fluid. Short upper arm bone, short upper leg bone, absence of nasal bone, split big toe. The small bone in the middle of the fifth of the fingers of the hand, the fingertip being larger than the hand. Short ear length. Early growth retardation.

If down syndrome is diagnosed during pregnancy, the baby can be aborted legally 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 baby is a special child and they should arrange their future lives accordingly.

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