Pre Conception Genetic Testing And Diagnosis

Reports show that one in every 20 pregnancies result in babies with birth defects. Some defects are minimal and the baby can live with it, while some are totally grotesque and create a lifelong time of trauma for both the parents and the children. We all are familiar with the stories of so many Siamese twins that are joined at the head, waist or chest and all such heart rendering stories.

It is so terrible to have to live your life knowing that you are a looked upon as a freak show. It is even more terrible to know that – as in case of the Siamese twins – any attempt to try living a normal life would jeopardize their life. Would it not be good to find out about such genetic defects way ahead and prevent them?

There are other instances where the children are born with Down syndrome, sickle cell, seizures, hemophilia, muscular dystrophy and the list goes on. Most of these are genetic defects that can be identified much before the baby is conceived. Yes, it is possible to find out the possibility of having defective genes from a very early stage. This is what pre-conception genetic testing is all about.

Some genetic conditions can be identified by testing, the couple’s blood, and other vital signs while some can be worked out from the family history. For example, if both parents are suffering from thalassemia minor there are great chances that one in every third conception would have a baby suffering form thalassemia major. Hence, it is advisable in this condition to check and double check at every conception what the odds are for the baby.

Different people have different opinions this. Some advice against knowing anything about the baby and taking a chance with it, as this is a gift from God. Some say it’s best to know what’s happening before it is too late. However, logically speaking is it fair to allow a miserable existence when it can be prevented? This is the same as with allowing a person to die of heart blockage by taking a chance, instead of having a by-pass – or even better preventing the blockage.

This is not to start a debate about what is right and what is wrong about pre-conception genetic testing and diagnosis. However, it does help to think about it from this angle. You can know before it happens whether you are in the danger of having genetically defective babies. Based on this knowledge you can take some informed decisions about it.

There are counseling agencies supported by the pre-conception genetic testing labs specifically set up to give advise and help people come to a decision that would suit them best. It is easier to take a decision at the beginning, when the baby is not yet formed (pre-conceiving stage) that when it is conceived or after its birth. There are stories of people deserting their deformed babies in the hospital; in some Asian countries, children are abandoned to die or even worse killed when born with gross deformities – especially if he baby is a girl.

Would it not be wonderful to prevent such atrocities by using the pre-conceiving genetic testing and diagnosis facilities before hand?

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