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When is Genetic Testing Done in Pregnancy

genetic-testing Testing for Genetic Disorders

Genetic testing if done in pregnancy can help in preventing many inherited diseases. Genetic testing can also help the couples to determine whether they are the carriers of some diseases that can be genetically passed. This way the couples have an option to take decisions regarding conception and pregnancy. Read on.

Why is Genetic Testing Important Here?

Pregnancy constitutes giving birth to a new life and the parents of the new born are responsible for providing it with a healthy and fulfilling life as far as possible. Often the presence of diseases lies within our genetic code and if we are oblivious to this basic fact there is no much that can be done to prevent the disease that is likely to develop in the baby in his later years.

Through genetic testing, the genetic codes of the mother and also her partner if required, are tested in order to determine whether they are the carriers of certain diseases that can be passed down to their offspring. Accordingly the doctor advises the couple to take certain decisions regarding the conception and pregnancy.

Genetic Testing is a Voluntary Decision

When a couple plans conception, a series of blood test are conducted in order to ascertain that the woman or her partner are not carriers of certain diseases and whether the baby is going to have a normal healthy life. Genetic testing is one of the constituents of this series. It is usually conducted on the woman and then on her partner if the woman happens to be the carrier. It is advisable to consult a genetic counselor before opting for the genetic testing as it is a sensitive issue and the woman and her partner needs to be aware of the reasons why the testing is suggested.

Family Background with Respect to Health Needs to Be Checked

Usually the family background and ethnicity are important aspects that play a role in determining the future of a pregnancy. If the doctor suspects any abnormality here, he calls for a genetic test. The counselor also helps the couple to understand which type of genetic test is relevant to their case and what type of outcome they can expect from the test. Likewise they can prepare themselves and the reality will not come across as a rude shock. It is important to make an informed decision when genetic testing is concerned.

Alteration and Mutation of Genes

There are innumerable diseases related to alterations within the genetic code of a person. Alterations and mutations occur within the specific genes that prevent or disable those genes from creating the necessary proteins that can stop the alteration. Even the alteration in the proteins is likely to be stopped. The changes and alterations that begin here affect the manner in which body system operates. 

The gene mutations that are related to certain diseases are either recessive or dominant. Some of them are considered to be X-linked or sex-linked, that is, it has something to do with the X or Y chromosomes. It has been found that these mutations can arise all of a sudden in an individual or get passed down to the direct members of a family tree. During pregnancy, these factors can thus play a determining role in deciding the future of the baby. Genetic testing before of during pregnancy is also important as certain diseases are prevalent in certain ethnic races.

Types of genetic testing during pregnancy

Preconception or Carrier Testing
– As the name suggests, this test helps to determine whether the individual is a carrier of a gene alteration for a variant of inherited disorder known as Autosomal Recessive Disorder. The diseases that are likely to be caused due to this are cystic fibrosis and Tay-Sachs disease.

Prenatal Testing
– This is a common test conducted during pregnancy particularly under the following conditions:

  • If the age of the woman is above 35, there is a likelihood of the baby being born with chromosomal abnormality or congenital birth defects.
  • If there is a family history of a condition called Duchenne muscular dystrophy. 
  • If the ethnic background of the individual indicates the presence of an inherited disorder like sickle cell anemia. 
  • A prenatal genetic test is also suggested to screen disorders like Down syndrome and Spina bifida.
Genetic testing is very helpful if carried out during pregnancy. However, it should be done after prior consultation with doctor.

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