Genetic testing is the basic need of intended parents who are expecting a baby in coming months. These tests reveal whether a person carries gene mutations associated with different types of inherited diseases and genetic disorders. These tests encompass studying and doing research on blood, tissue and amniotic fluid for the proof of genetic abnormalities. These tests are for those who are planning a family and include, but not limited to:
For a considerable number of families who need certain treatments to prevent hereditary diseases and make informed decision about their healthcare. It is the best way to diagnose genetic disorders and then take the right treatment to stop them passing in the next generation. Genetic testing process is broad and bring you a number of health benefits. Carrier screening is also a vital part of this type of testing.
Carrier Screening – Introduction
Carrier screening is a blood test done on people to determine the possibility to ensure that they can carry a recessive gene mutation that could cause diseases in their children or coming generation. A carrier is a one – counted as the copy of a gene mutation for a recessive disease. A carrier has no disease symptoms, but risk of having an affected baby may increase – if partner is a carrier too.
Importance of Carrier Screening – Why Is It Important?
For those couples who are planning a family, it is ideal to screen before they conceive or as soon as possible after conception to allow all available reproductive options to be noted and applied. Couple need to get precise information and go through the procedure of carrier screening before pregnancy.
This type of screening comprises a blood sample that is taken from one or the couple to examine the blood serum or DNA to know about the genetic mutations.
If any of the partner is a carrier of an autosomal recessive genetic disorder, but partner is not. In that case, the baby will not be affected by the disease.
In case the partners are found carriers of the same disorder, then the chances of risk increases during pregnancy that result in fetus affected by the disease. In that case, more chances of carrier baby and less chances of child will inherit no mutation.
In case of detection of gene mutation on one of the woman’s X chromosomes, more and more chances are that male baby will inherit the disorder.
Prenatal Diagnostic Testing and Its Importance
CVS or Amniocentesis and Chorionic Villus Sampling are tests done to diagnose the fetus’ state by going through fluid or tissue from the mother’s uterus. These are outpatient procedures that are done to determine with a high degree of accuracy – no matter whether the carrier parents are healthy or not.
Some Essential Facts to Know About Genetic Testing and Screening
There is no denying the fact that different types of advances are improving the genetic medicines to a great level. They are helping doctors and medical practitioners to detect mutations and diagnose disorders. In addition to this, it is also important to note that genetic testing have limitations; while they offer only a diagnosis – not a cure.
It is not always sure that such tests can predict the severity of diseases; while possibility of lab errors cannot be denied (very rare). For this, it is vital to choose the reputed genetic testing facilities that have proven track record and good experience. The essential point to note is that some genetic disorders are difficult to test. In addition to this, no test is 100% definitive; while accuracy is generally high but varies depending on the disorder.