DOWN SYNDROME SCREENING AND DIAGNOSTICS TEST

Down Syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21.  It is usually associated with characteristic facial features, physical growth, and developmental delay. Nowadays, pregnant women able to have Down syndrome screening and diagnostics tests, which can be done at three months of pregnancy. The diagnostics test allows pregnant women to plan the proper Down syndrome child caring in advance.

Dr.Chitnapin Dulyakasem, an Obstetric Gynecology-Meterno-fetal specialist of Vejthani hospital, said that there are three methods of Down syndrome diagnostics test, which are;

1. Chorionic villus sampling or CVS (This procedure should be done between 11-13 weeks of pregnancy)
2. Amniocentesis (This procedure should be done between 17-20 weeks of pregnancy)
3. Percutaneous umbilical blood sampling or PUBS (This procedure should be done between 18-22 weeks of pregnancy)

With the diagnosis procedures, it needs to do the operative that might affect the unborn baby in the womb so that the diagnostics test might increase the risk of miscarriage, preterm labor, infection in the uterine cavity, or amnion leaking, etc. Due to the risks, the doctor won’t recommend the diagnostics test but the screening test. However, if the patient who underwent the screening test found that the unborn baby has the risk of Down syndrome or a high rate of chromosome abnormalities, the doctor will consider using a diagnostic test afterward.

“Even though the risks that occur from the diagnostics test are quite low, it’s around 0.5%-1% of the average of the risk. we believed no one wants to receive those risks so that, we would like to recommend every pregnant woman to undergo the screening test which can be done at the 10 weeks of pregnancy, however it depends on the type of the procedure but the recommended period for the screening test undergoing is around 11-13 weeks of pregnancy because the most precise screening test procedure can be chosen and it’s the proper period for the Down syndrome abnormalities Ultrasonography.”

Dr.Chitnapin concludes that the sooner you come to get the screening test, the faster you can go to the next step of the procedure. Knowing that the unborn baby has chromosome abnormalities is to be an option for pregnant women to terminate their pregnancy in case that the unborn baby has severe chromosome abnormalities or to plan the proper Down syndrome child caring in advance in case that the unborn baby has a chance to survive.