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Preconception Genetic Testing: Preventing Your Children From Having Genetic Disorders

HIGHLIGHTS:

  • 80% of infants born with a genetic disorder will not have a family history of that condition.
  • Preconception genetic testing can screen and diagnose over 600 recessive genes, meaning over 300 genetic disorders can be identified with an accuracy of up to 95%.
  • If genetically transferable genes are identified, doctors specialized in medical genetics will be able to help prospective parents with family planning.

Data indicates that more than 80% of children born with genetic disorders have no family history of their condition. It has also been found that 1 out of every 550 pregnant women are at risk of giving birth to a child with a severe genetic disorder. As a result, numerous studies have been conducted on the most effective way to carry out preconception genetic testing. Based on the findings of those studies, there are now techniques available that provide screening and diagnosis techniques with an accuracy of up to 95%, thereby helping to reduce the chances of a child being born with such a condition.

Preconception genetic testing offers screening and diagnosis for more than 600 recessive genes, allowing medical staff to identify over 300 genetic disorders. If a dangerous gene is found, prospective parents can prevent it from being transferred onto their child. This is not only limited to parents who are at an advanced age. Such dangerous genes can be present in any of us.

Moreover, for partners who are having difficulties conceiving, preconception screening enables doctors to carefully select only the healthiest embryos for insemination back into the uterus, thereby significantly increasing the chances of a successful conception.

Why is it necessary to undergo preconception gene testing?

Modern innovations in the field of medicine mean that doctors are now able to identify genetically transferable disabilities in a couple before they have children. Such disorders are found in around 3-5% of the general population.

In addition to preventing dangerous disorders prior to conception, modern screening can also help to identify the risk of a number of disorders that occur due to recessive genes that are found in the parents and which can be transferred onto their offspring. This is particularly true of thalassemia. If either parent is found to be in possession of this recessive gene or either of them is a carrier of the gene, the chances of their child being born with the condition are extremely minimal. However, if both parents have this gene present or if they are both carriers of the gene, the chances of their child being born without the condition are just 25%, while their chances of that child being a carrier of the gene are 50%, meaning the chances of their child being born with thalassemia are also as high as 25%. Moreover, in cases where both parents suffer from thalassemia, their child is 100% certain to be born with the condition, for which there is currently no cure available.

Therefore, preconception genetic testing can play a crucial role in helping parents decide whether or not to proceed with their pregnancy, as well as giving them the opportunity to consult with a medical professional about potential preventative techniques they could carry out prior to conception.

Benefits of preconception gene testing

Preconception genetic testing provides analysis of over 600 potentially problematic recessive genes, giving doctors the chance to conduct a comprehensive search for any genes carrying serious diseases before they are allowed to disable and debilitate various vital organs of the unborn child.

For partners who are carriers of genetic disorders, preconception screening offers an opportunity to reduce the risk posed to their unborn child by screening for healthy genes which are kept, while the rest are disposed of. Then, the genes belonging to health embryos can be re-inserted into the uterus to ensure the best chance of a strong and healthy child being born, as well as helping to increase the chances of partners who are experiencing difficulties conceiving to become pregnant.

Which groups are suitable for preconception genetic testing?

  1. Any married couple
  2. Couples who have genetic disorders or are carriers of recessive genes, meaning they have a family history of genetic disorders.
  3. Couples experiencing difficulties conceiving and who would like the best chance of giving birth to a healthy child.

What will happen in cases where abnormal genes are identified?

There is no need for parents to feel shocked or anxious in cases where a genetically transferable disorder is identified through screening. There are now reproductive specialists on hand to offer advice related to the process of in vitro fertilization.

In addition to screening embryos selectively, doctors will also assess the readiness of the endometrium which plays a crucial role in successful reproduction. This is done with a uterine receptivity test alongside mitochondrion screening, as these are the power sources of embryo cells that can help increase the chances of successfully conceiving by up to 50%.

What to do if you wish to undergo preconception genetic testing

Preconception genetic testing is possible after a consultation with your obstetrician. It involves taking a blood sample from the mother. There is no need to abstain from food or drinks prior to this process, and the results of the test will be available in around three weeks subsequent to the sample being sent to the laboratory for testing.

Click here to read more about preconception genetic testing

It is easy to see how preconception genetic testing is another key aspect that all potential parents should be careful not to overlook due to the vast number of hidden illnesses which may be lurking inside our DNA, ready to disrupt the health of your little ones. Hence, preconception genetic testing is not merely something that can benefit parents. It can also be crucial in ensuring the health and wellbeing of your unborn child.

 


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Assoc. Prof. Boonsri Chanrachakul, M.D. Summary: Obstetrics And Gynaecology Maternal And Fetal Medicine