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Genetic Testing Topics..

You are here : home > Genetic Testing > Testing for Genetic Disorders > Genetic Testing for Birth Defects

Genetic Testing for Birth Defects

Many of the diseases are controlled by genes. Many birth defects are caused due to genetic configuration, family history or racial background. Prenatal genetic screening is helpful in determining any chromosomal abnormality. Genetic screening is suggested by doctors for some people who have high chances of contracting genetic diseases. Read on to know all about genetic testing and birth defects.

Factors Causing Birth Defects

One in every twenty pregnancy is found to have the baby born with a birth defect. The range is highly variable as the defect can be a minor anatomic abnormality to acute mental retardation or a serious genetic disorder. There are various factors that are responsible for the baby being born with a birth defect and genetic testing becomes important as it helps the parents to be aware of the causes and thereby take effective measures as per the advice of the doctor.

Some couples stand a greater risk of delivering an abnormal baby health-wise, while some couples owe it to their genetic configuration of their family tree or their ethnic origin. So apart from the medical history of the family, the racial and ethnic backgrounds are other vital associative factors resulting in a birth defect. Not to forget the environmental factor like exposure to hazardous toxics that render often an unexplained impact leading to birth defect in the child. It is important to note that genetic screening may not detect such factors. 

Procedure of Genetic Testing for Birth Defect

PGD or Preimplantation genetic diagnosis is the predominant technique in this regard. This test is conducted during the In-vitro fertilization itself. It is tested whether the embryo has any genetic disorder before transferring it to the uterus of the woman. Couples who are already diagnosed with acute genetic disorders opt for this procedure as it effectively alleviates the possibility of the passing down of the disorder, had they gone for a natural conception.

PGD is a safe and effective procedure although there are arguments on ethical grounds. The controversy is due to the fact that there is an ample possibility of sex selection issues along with a possibility of genetic engineering. This is the reason why PGD is not practiced widely and there is an institutional ethics board that constantly monitors the procedure. 

When Does the Doctor Suggest Genetic Screening for Birth Defect?

The doctor may suggest genetic screening in case of the following conditions. 

When the Mother is Above 35 Years

There is an enhanced probability of miscarriage in women who conceive after 35. They are also exposed to the risk of the baby developing serious chromosomal problems. In such cases the doctor or the genetic counselor suggests that they undergo a genetic screening so that the chances of the woman delivering a healthy baby are high. A prenatal genetic testing is usually opted for to ascertain that the baby is not born with chromosomal disorders like Down’s syndrome. There are also other facts that the parents need to know in order to make an informed decision regarding their pregnancy. 

Racial or Ethnic Issues

People coming from certain racial backgrounds stand a higher risk of giving birth to children with genetic disorders. Given below are a few such conditions where a genetic testing can provide vital information:

  • Sickle cell disease – People having an African-American background need to undergo genetic testing as most of them are found to be a carrier of sickle cell anemia.
  • Thalassemia – People having a Mediterranean or asian background are also suggested a genetic testing as almost 3% of the said population carry the thalassemia gene.
  • Tay-Sachs disease – The French Canadians and people belonging to the eastern European Jew community are often found to contract this disease.

If Any of the Partners Have the Following Conditions, Genetic Testing is Suggested

  • If the woman experiences still births and repeated neonatal deaths, there is a high possibility that there is a chromosomal abnormality.
  • Genetic abnormality is also responsible for recurrent miscarriages irrespective of the status of pregnancy and age of the woman.
  • If the vas deferens is found to be entirely absent, it is often due to cystic fibrosis. If your partner is a carrier of the disease, it needs to be ascertained through a genetic test.
  • Abnormal sex chromosome is responsible for azoospermia or the total absence of sperm in the semen. A genetic test can reveal the fact and the condition is often treatable by karotype, as opined by the physician.

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