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GENETICS

PGD

Pre-Implantation Genetic Diagnosis

 

Pre-Implantation Genetic Diagnosis (PGD) is a genetic test used when one or both parents have a known genetic abnormality. Its aim is to detect whether the embryos carry this genetic abnormality before transferring it into the uterus. Therefore, it allows you to differentiate between the normal and abnormal embryos for a specific abnormality.

What Genetic Diseases
Can Be Prevented
Using PGD?

 

 

Any genetic disease that is identified in a couple and has the possibility of being transferred from parent or parents to child can be identified by PGD. If the exact mutation or abnormality is known it can be determined in the embryos before it is transferred back into the uterus. Examples of genetic disease that can be prevented by using IVF with PGD include Cystic Fibrosis, Spinal Muscular Atrophy, Tay – Sachs disease, Sickle Cell Anemia, Thalassemia, Huntington Disease, and much more.

 

 

PGS

PGS is a technique for screening embryos for any possible abnormality in their chromosomes. It does not look for a specific abnormality but rather screens for several abnormalities that may be present. It may be suitable in cases that have had previously failed treatments, recurrent miscarriages, or for woman in their mid–30s or older.

The reason this may be beneficial is that chromosomal abnormalities may be the reason behind previously failed treatments. The evidence shows that more than 50% of human eggs have chromosomal problems abnormalities and the probability of having these abnormalities increase with age.

Consequently, if you are found to be an appropriate candidate, during your next cycle, we can offer PGS to help us choose the best embryos with the right chromosomes for transfer with the intention of giving you a better chance of success.

NIPT

An NIPT test is a non-invasive prenatal test that checks for chromosomal abnormalities during your pregnancy. It specifically detects Down’s syndrome (trisomy 21), Edwards Syndrome (trisomy 18) and Patau Syndrome (trisomy 13). The advantage is that it can be done as early as of 10 weeks of pregnancy and is a simple blood test and not invasive.

What does an NIPT test involve?

NIPT is a test that detects tiny fragments of DNA from the fetus in the mother’s blood stream.

This cell free fetal DNA can be detected in a significant amount by 10 weeks of pregnancy.
The benefit of this test is that it is a simple blood test that is not invasive as compared to other techniques like the chorionic villus sampling (CVS) where they use a needle to take a sample from the placenta or amniocentesis when they take a sample from the amniotic fluid surrounding the baby. Moreover an NIPT can be done much earlier than a CVS or amniocentesis so that you can know the result much earlier in the pregnancy.

THE BLOOD SAMPLE IS ANALYSED FOR THE SMALL DNA FRAGMENTS AND CAN DETECT THE TRISOMIES WITHIN 3 – 5 DAYS.

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