Saturday, 16 August 2014

Case of positive screening for downs syndrome

Case of positive screening for downs syndrome
Dr.Anita mani

The patient who conceived with IUI, after history of teratozoospermia ( abnormal sperms) , had screening test at 10 weeks with double marker test. The result came positive for downs syndrome . This is an indication that the the baby maybe suffering from downs syndrome, but we cannot confirm if the  baby actually has downs. It is often very stressful for parents to receive such a report . They need to undergo further tests like NACE or Amniocentesis to confirm or rule out downs. NACE will further screen  and is done to avoid amniocentesis , but it is not diagnostic. Amniocentesis will be done to confirm whether it is true downs or just a false alarm. If NACE test is also positive, Amniocentesis should be performed directly , it is done by taking fluid around baby and doing genetic test on that .

Downs syndrome is an abnormality of chromosome number 21, and those babies are mentally challenged and may have other abnormalities like cardiac problems as well.

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