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The outcome of a pregnancy has a significant impact in your upcoming life. So most parents are open minded to anything and everything they can to to ensure a healthy baby. Now a days, most of the parents are aware of the screening tests conducted in the course of pregnancy, some of which are routine and some are exceptional, to avoid many dangerous outcomes of the pregnancy.
Much the same as physiological, many times, the baby is inclined to experience certain genetic disorders. Even though most of these disorders are rare in the general population, they are more common in certain nationalities and races. Genetic disorders have no cure, but they can be prevented. On account of advances in hereditary research, numerous recessive genetic disorders can be recognized through a specialized screening – carrier screening.
Carrier screening is a screen test conducted to evaluate the chances of your baby inheriting serious genetic disorders of which either one or both parents are the carriers. Here is the basic concept of this screening test:
A ‘carrier’ is referred to as a person whose one gene of the pair of the chromosome has an inherited disorder, while the other one remains normal. As a result, the person, though, has disease trait, possesses no physical symptom of the disease. However, if a person who is a carrier of a serious hereditary issue has a baby with another person who is also a carrier of the same hereditary issue , their baby has increased chances of inheriting a defective gene from each parent to have the disease.
Ideally, you should be offered the test before, that is, during your first preconception appointment. If you carry a risk of being a carrier of genetic disorders, and so does your partner, your baby will have a 1 in 4 chance of getting the defective gene and being born with the disorder. Talking to a genetic counselor
Some of the more common hereditary conditions that carrier screening tests for are:
Mostly, both parents are screened at the same time or each one in turn. Your blood sample will taken and sent to a lab where it is examined for the proof of hereditary anomalies. Results take around a couple of weeks.
When both the parents are carriers of the same recessive disease, your baby has a 25% chance to conceive with that issue. Likewise, there is a 50% possibility that your child will be a carrier, showing no symptoms of the disease and another 25% chance not to inherit the problematic gene from either parent.
Technology in the reproductive field is highly developed. Preimplantation genetic diagnosis (PGD), which is a procedure used before the implantation of the embryo to recognize hereditary imperfections inside the embryo, is created through in vitro fertilization (IVF), to prevent a certain genetic disorder from passing on to the baby. Artificial insemination happens when the sperm is received from a donor without the problematic gene. Adoption is another option. Getting pregnant and undergoing prenatal diagnostic testing can also be done.
The prenatal diagnostic test is a screening test conducted to find out if the fetus is affected by the hereditary disease of which the parents are the carrier(s). High degree of accuracy of diagnosis is guaranteed in chronic villus sampling, which is done between the 10th to 12th week of gestation or amniocentesis after the 15th week of gestation. Deciding the apt test belongs to your doctor.
Though a high degree of accuracy is guaranteed, the prenatal test has its own limitation. These tests are not able to determine the range of severity of the condition, which is important to take an appropriate decision regarding the pregnancy.
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