Prenatal Screening
1. Who should go for FTS and STS? 
  - Advanced maternal age (≥ 35 years old)
  - Previous birth of a child with a birth defect
  - Individuals with personal or family history of birth defects
  - Abnormal ultrasound findings

2. What are the advantages of FTS? 
  - Non-invasive, requires only mother’s blood sample
  - Safe, no-risk of miscarriage
  - Accurate, Nuchal Scan + blood test gives 90% accuracy of the result

3. What is the difference between prenatal screening tests and diagnostic tests?
Screening tests are non-invasive, therefore they do not pose any danger to the fetus. These tests provide the risk or probability of the baby being affected. Diagnostic tests are invasive and as such, there is a risk of miscarriage. However, diagnostic tests do give a conclusive answer and the risk of miscarriage is only 1 in 100 (1%).

4. What are the Diagnostic tests?
“Diagnostic tests” are invasive tests which are offered to mothers considered to be at high risk of having a baby with a chromosomal problem. The diagnostic test provides you with a definitive answer as to whether your baby is truly affected. Chorionic villous sampling (CVS) involves removing a small amount of cells from the placenta (afterbirth). Cells are obtained by passing a long needle through the abdomen or occasionally through the vagina, into the placenta. It can be done form 11 weeks onwards. An advantage of this test is that a definitive result is available sooner. There is a 1% risk of miscarriage.

5. What is pre-eclampsia?
A pregnancy-induced increased blood pressure (hypertension) and  protein in the urine (proteinuria), that usually occurs  after the 20th weeks of pregnancy, which may severely affect the mother and the fetus. 

6.  How may pre-eclampsia affect your baby?
Pre-eclampsia affects the development of the placenta (afterbirth), which may prevent your baby growing as it should. There may also be less fluid around your baby in the womb. If the placenta is severely affected, your baby may become very unwell. In some cases, the baby may even die in the womb. Monitoring aims to pick up those babies who are most at risk.

7. Who is at risk of pre-eclampsia?
Pre-eclampsia can occur in any pregnancy but you are at higher risk if:
•    your blood pressure was high before you became pregnant
•    your blood pressure was high in a previous pregnancy
•    you have a medical problem such as kidney problems or diabetes or a condition that  affects the immune system, such as lupus.

8. Can pre-eclampsia be prevented?
If you are at risk of having pre-eclampsia, your doctor will advise you to take low-dose aspirin (75 mg) once a day from 12 weeks of pregnancy, to reduce your risk.Screening during the first trimester can identify women at high-risk for pre-eclampsia and leads to earlier detection of the clinical signs of the disease, where necessary medication can be given.

NICC® (Non-Invasive ChromosomesCheck)

1. Who should go for NICC® test?

American College of Medical Genetics and Genomics (ACMG), recommends:
“Informing all pregnant women that NIPT/NIPS (Non-invasive prenatal screening) is the most sensitive screening option for traditionally screened aneuploidies i.e Patau, Edwards and Down Syndromes”.
NICC® test is available to all pregnant women, especially women with:
  - Advanced maternal age (≥ 35 years old)
  - Previous birth of a child with a birth defect
  - Individuals with personal or family history of birth defects
  - Abnormal ultrasound findings
  - Positive serum screening test

2. When can I do the NICC® test?
NICC® test can be done anytime from the 10th week of pregnancy with just a simple blood draw from the arm. There is no limit in gestation age, NICC® can be carried out right until the end of pregnancy. However there is certain risk at late pregnancy (>24 weeks) due to the inability to undergo clinical diagnostic test to confirm the result as the ideal time for prenatal diagnosis has passed.

3. How accurate is NICC® test?
NICC® is a highly accurate screening test that provides a stronger risk indication than other traditional screening procedures with a sensitivity rate of >99.9% for Down Syndrome, Edwards Syndrome and Patau Syndrome. NICC® significantly reduces the number of women undergoing unnecessary invasive diagnostic proceduresIt is important to note that NICC® is a screening test, which means that it does not test with 100% accuracy like an invasive diagnostic procedure such as amniocentesis.

4.How does the NICC® test work?
During pregnancy, cell-free fetal DNA (cffDNA) is released from placenta into mother’s blood vessel. Using only mother’s blood, NICC® detects the baby’s DNA and measures the risk of common chromosomal aneuploidies including Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18) and Patau Syndrome (Trisomy 13).
5.What does the NICC® test look for?
During pregnancy, fetal DNA from the placenta can be found in the mother’s blood. The NICC test detects the fetal DNA and measures the individual risk of chromosomal abnormalities (Down Syndrome, Edward Syndrome & Patau Syndrome) in the fetus.

6.I am expecting twins. Can I still do the NICC® test?
Yes you can. However, for twin pregnancy, NICC® can only screen for the common trisomy, namely Down Syndrome, Edwards Syndrome and Patau Syndrome. In the case of ‘vanishing twin’, NICC® can only be performed at least 8 weeks after the development arrest.

7.What will NICC® test result tell me?
NICC® measures the risk of certain chromosomal abnormalities The test can only estimate whether the risk of having certain conditions is increased or decreased
Low risk - Means lower risk of developing the tested conditions. Routine follow ups should be performed to monitor the baby’s growth
High risk - Means higher chance of having chromosomal abnormalities. Diagnostic tests should be performed to confirm the result
The result of this test does not eliminate the possibility of other abnormalities of the tested chromosomes other genetic disorders or other complications in the fetus or pregnancy

8.What are the limitations of NICC® test?
 Screening test: While NICC ® is highly accurate, it cannot tell for sure whether or not your baby has any of the specific chromosome conditions. As a screening test, false positive and false negative result can still occur. The followings may compromise the accuracy of the test:
maternal chromosomal aneuploidies, mosaicism, vanishing twin and triplet (and above) pregnancy If the pregnant woman have received allogeneic blood transfusion, transplantation and or stem cell therapy, there will be a possibility of misleading results due to exogenous DNA
• Possibility of re-sampling or no results: About 1-8% (1 to 8 in 100) or less of pregnant persons will need to have their blood drawn a second time because the test fails About half the time a result will be available after this second try There are various reasons why a test may fail including technical issues with the sample, or not enough cffDNA from the pregnancy (low fetal fraction) Factors that may result in a low fetal fraction are too early in the pregnancy, chromosome disorder and obesity.
9.What are the advantages of NICC® test?
- Simple: Requires only mother’s blood for testing
- Safe: Non – invasive, and therefore no risk to the baby
- Accurate: It detects more than 99% of Down Syndrome, Edward Syndrome and Patau Syndrome

10.If I have done NICC® test, do I still need an ultrasound?
NICC® does not replace the detailed ultrasound usually offered between 18 20 weeks of pregnancy This scan is important to check for the baby’s development including the anatomy (body parts such as heart, spine, brain, etc) of the baby, measuring the baby’s growth, and measuring the fluid around the baby.

Prenatal Diagnostic Tests:

1. What are the advantages of CNGnomeTM?
- Increased resolution over traditional karyotype and microarray analysis
- Genome-wide coverage, not limited to probe spacing and density
- Better accuracy

2. Who should go for ThalaCheck®?
- Individuals with personal or family history of Thalassaemia
- Premarital couple
- Fetus with parents who are Thalassaemia carrier

3. What are the advantages of ThalaCheck®?
- Better family planning
- Early Thalassaemia test will allow you and your spouse to be more prepared for the special care and treatment

Baby Health

1. How will my baby be screened? 
    A sample of blood is obtained by pricking the baby’s heel between 48 to 72 hours after birth. This sample is then placed
    on a filter paper which is sent to the laboratory for testing.

2. What are the advantages of NBS?
    -  Simple and affordable
    -  Reliable
    -  Treatable when diagnosed early

3. My baby looks healthy. Is NBS still needed?
 - YES! Most babies with Inborn errors of metabolism (IEM) look healthy at birth but can become very sick after a few days or weeks. If not found early, many of the conditions can cause serious and permanent health problems, (ie; mental retardation, severe developmental delay and even death).

4. What is allergen?
Allergens are substances that induce allergy symptoms. It usually consists of proteins often with enzyme properties. The allergens cause the production of a type of antibody, called IgE (Immunoglobulin E), that is specifically associated with the development of allergy. Almost any protein substance may act as an allergen but in the tropic, the following are highly allergenic: house dust mites and their faecal pellets, pet dander and common foods (egg, milk, peanuts, prawns and soybean).

5. How is allergy diagnosed?
    There are two types of allergy tests:
    - Skin Prick Test (in vivo)
    - Blood Allergy Test (in vitro)
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