Down's Syndrome

Down's syndrome, otherwise called trisomy 21, is a genetic disorder that results from the presence of an extra copy of chromosome 21. This chromosomal change results in physical characteristics like small head, short neck, poor muscle tone, wider and flat nasal bridge, and small ears. It also results in cognitive impairment and memory problems.

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Trisomy 21 is positive in nuchal translucency. What does it indicate?

Query: Hello doctor, My wife is 36-year-old with a height of 5.6 and weight 69.1 kg. She had NT or NB scan and double marker test in obstetrical ultrasound. The nuchal thickness is 1.0 mm. Presence of nasal bone. DV flow is normal, but in double marker test, free beta hCG is 46.20 and PAPP-A is 2.58. Triso...  Read Full »

Dr. Nadia Khan

Answer: Hello, Welcome to 1 in 250 means that if we take 250 women of the same results as your wife had then only one will have a baby with Down syndrome. So this is the explanation of the calculated risk of down syndrome. Secondly, NT (nuchal translucency) and blood tests which she underwen...  Read Full »

My trisomy 21 report value is 1:250. Was it normal?

Query: Hi doctor, I am 12 weeks 5 days pregnant. My NT scan measures 1.6 mm, the double marker PAPP-A is 2.82, and free beta hCG is 36.7 Could you please help with the report? Was it normal? My trisomy 21 is 1:250.  Read Full »

Dr. Nadia Khan

Answer: Hello, Welcome to 1 in 250 is a high risk for trisomy which means your risk of having a baby with trisomy 21 is 1 out of 250. But this test is only a screening test which means that they just calculate the risk of having a baby with down syndrome. If someone is found at higher risk li...  Read Full »

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