Continuous Research and Development into DNA Molecular Diagnostic Methods
What is the nuchal translucency screening test?
This prenatal test (also
called the NT or nuchal fold scan) can help your healthcare practitioner assess your baby’s risk of having Down syndrome (DS) and some other chromosomal abnormalities as well as major congenital heart problems.
The NT test uses ultrasound to measure the clear (translucent) space in the tissue at the back of your developing baby’s neck. Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average.
The NT scan must be done when you’re between 11 and 14 weeks pregnant. (The last day you can have it done is the day youturn 13 weeks and 6 das pregnant). It’s usually offered along with a blood test in what’s known as first trimester combined sreening.
Like other screening tests, an NT scan won’t give you a diagnosis. But it can assess your baby’s risk for certain problems and help you decide whether you want to have chorionic villous smpling (CVS) or amniocentesis to find out whether your baby is actually affected.
The NT scan has been performed in the
- Accurate assessment of gestational age and hence verifying the expected date of delivery.
- Assessment of the risk of Down’s Syndrome by NT measurement and the presence or absence of the nasal bone.
- Detection of certain major foetal abnormlities.
- Foetal viability - About 3 per cent of pregnancies fail to carry on when scanned during this time. The diagnosis is made when no foetal heart movement is seen on ultrasound scan.
- Determine the number of foetuses as multiple pregnancies need closer monitoring.
http://www.babycenter.com/0_nuchal-translucency-screening_118.bc
What are the diagnostic prenatal tests?
The diagnostic tests in the prenatal period are specialized tests such as amniocentesis, chorionic villous sampling (CVS) and foetal blood sampling (FBS) which are able to detect foetal abnormalities especially chromosomal abnormalities such as Down’s Syndrome. Where a genetic disorder is known, such as in Thalasemia (an inherited blood disorder), a gene probe for the defect is used to test for the condition in the baby.
Since these tests are “invasive”, i.e. they involve sampling with a needle or small cannula (tubing), there is a procedure-related risk of miscarriage between 0.5 and 1.0 per cent.
Amniocentesis
This is the commonest of the three specialized tests and involves drawing some amniotic fluid that surrounds the baby for analysis. This test is done under ultrasound guidance, using a long, narrow needle. It can be performed from 15 weeks onwards. The results usually take about 8-10 days to be ready. The risk of miscarriage is 0.5 per cent, over and above the normal risk of miscarriage. Amniocentesis is commonly performed to check for chromosomal abnormalities in women over the age of 35, those with positive triple test or when an abnormality is found on ultrasound scan.
Chorionic Villous Sampling (CVS)
Chorionic villous sampling is essentially a biopsy, where a piece of tissue is taken from the placenta. This can be done earlier, usually from 10-12 weeks of pregnancy. Placental tissue contains cells, which are similar genetically to the baby, is sent for analysis. Depending on where the placenta is situated, CVS can either be done through the trans-abdominal or trans-cervical (through the neck of the womb) route. It is associated with a slightly higher risk of miscarriage, between 0.5 and 1.0 per cent, and can be done earlier compared to an amniocentesis. Women with increased risk of chromosomal abnormalities (those above 35 years of age) and genetic diseases (such as ?- and ß-Thalassaemia) may be offered a CVS.
Based on Dr. Patrick Chia & Dr. S. Raman, Is My Pregnancy Normal?, Discern Publishing House, 2005.
How would i know which test are necessary for me? How can i decide?
Some prenatal tests are performed routinely while others are done when there is need for the test. Some of the tests are not without its risks such as an amniocentesis where there is risk of miscarriage. Often the decision to have a prenatal test is a personal one but it is important to gather all the correct information so that an informed decision can be made.
You may wish to consider a prenatal test in the following:
-
Family history of genetic condition or you know you are a carrier
of a particular condition such as Thalassaemia. -
Exposure to a serious infection during pregnancy such as rubella or
toxoplasmosis. -
Exposure to a harmful substance that can cause a birth defect.
-
A previous unsuccessful pregnancy or a child with a birth defect.
-
Anxious to know if your baby has a detectable abnormality.
Based on Dr. Patrick Chia & Dr. S. Raman, Is My Pregnancy Normal?,
Discern Publishing House, 2005.



