Genetic Testing During Pregnancy

We explain the genetic testing during pregnancy with its types, definition, importance and future in detail lets read.

What are genetic tests?

Genetic testing can help doctors find faulty or missing genes . This information helps them know if a person, their partner, or their baby is prone to certain medical conditions.

Genetic testing consists of analyzing small samples of blood or other body tissue. Many different types of body fluids and tissues can be used. The type of genetic test needed to make a diagnosis depends on the condition being tested.

By using a gene chip to analyze the human genome, the genetic genes that cause disease can be identified. Cancer , diabetes, etc. are diseases caused by genetic defects. Medical and biological researchers will be able to identify mutated genes that eventually cause cancer and the like within seconds. With a small test solution, doctors can predict the efficacy of the drug on the patient, diagnose the drug’s adverse reactions during the treatment, and identify the bacteria, viruses or other microbes on the spot. The use of gene chips to analyze genetics will result in a diagnosis rate of more than 50% for diabetes after 10 years.
Genes come from parents and remain unchanged for almost a lifetime, but due to genetic defects, some people are naturally susceptible to certain diseases, which means that the presence of some genotypes in the human body increases the risk of certain diseases. The gene is called a disease susceptibility gene.
As long as you know the susceptibility genes of diseases in the human body, you can infer which diseases people are prone to. However, how do we know which susceptibility genes we have? This requires the detection of genes.
It can serve you: What is the genetic code?

How is genetic testing carried out?

Using a special sampling rod to scrape off the exfoliated cells from the oral mucosa of the test subject. Through advanced equipment, researchers can obtain DNA samples from the exfoliated cells, and perform DNA sequencing and SNP single-core on these samples. Glycosidic acid polymorphism detection, it is clear that the genetic order of the testee is different from other people. After comparing with the genetic samples of many kinds of diseases that have been discovered, the DNA in the testee can be found. Which diseases are susceptible genes.
Genetic testing is not the same as medical diagnosis. The genetic test results can tell you how high the risk is, but it does not mean that you have a certain disease, or that you will definitely develop it in the future. .
Through genetic testing, we can provide personalized health guidance services, personalized medication guidance services and personalized medical examination guidance services. Accurate prevention can be carried out in the years, even decades before the onset of the disease, rather than blind health care; people can effectively adjust dietary nutrition, change lifestyles, increase the frequency of medical examinations, and receive early diagnosis and treatment. Environmental factors that prevent disease from occurring.
Genetic testing not only tells us in advance how high the risk of disease, but also clearly guides us to use the drug correctly to avoid harm to us. It will change the situation of misuse, ineffective and harmful drugs and blind health care in traditional passive medical care.
Every year, the world dies of 7.5 million unreasonable drugs. Ranked fourth in the death toll. In China, about 2.5 million patients are hospitalized due to adverse drug reactions, and 200,000 people die directly. About 30,000 children have drug-induced deafness every year in China, and about 50% of the more than 1 million deaf-mute children are drug-induced. Every year, 10,000 people in Shanghai die of taking the wrong medicine.
Genetic testing is benefiting thousands of families. Genetic testing: it is a safe “savings” for children, an “investment” for themselves, and a longevity “insurance” for parents. One test, benefiting for life.

What genetic testing during pregnancy can be done?

When it comes to genetic testing during pregnancy that can be done before birth, there is a blood test that can be used as a prenatal screening test for some disorders. To evaluate other disorders, or if prenatal screening tests detect a possible problem, doctors may recommend amniocentesis or coronic villus sampling:

  • Amniocentesis is a test that is usually done between weeks 15 and 20 of pregnancy. The doctor inserts a needle into the woman’s abdomen to remove a small amount of the amniotic fluid that surrounds the developing fetus. The fluid is tested for genetic problems and the sex of the baby can be found. When there is a risk of preterm labor , amniocentesis can show the level of maturation of the baby’s lungs. Amniocentesis is associated with a reduced risk of induction of abortion.
  • Chorionic villus sampling is usually done between weeks 10 and 12 of pregnancy. The doctor removes a small sample from the placenta to evaluate the fetus for genetic problems. Since chorionic villus sampling is an aggressive test, there is a reduced risk of induction of abortion.

Why Do Doctors Recommend Genetic Testing?

A doctor may recommend genetic counseling or undergo genetic testing for any of the following reasons:

  • The pregnant woman is over 34 years of age. A pregnant woman’s chances of having a child with a chromosomal problem (such as a trisomy ) increase if they are over 34 years of age. Children of older couples are at increased risk for de novo genetic mutations (those caused by an isolated genetic defect that had not previously existed in the family).
  • The pregnant woman has an abnormal result in prenatal screening tests . Doctors may recommend genetic testing if prenatal screening tests have shown a possible genetic problem.
  • The couple wants to have a child but one of their members or a close relative has a hereditary disease. Some people carry genes for genetic diseases, even though they have no signs of those diseases. This occurs because some genetic diseases are recessive . This means that they cause symptoms only if a person inherits two copies of the problem gene, one from each of their parents. Children who inherit a problem gene from one parent and a normal gene from the other parent will not have symptoms of a recessive disease. But they will have a 50% chance of passing the problem gene to their children.
  • One of the parents has already had a child with a serious congenital anomaly. Not all children born with birth defects have genetic problems. Sometimes being exposed to a toxin (poison), infection, or trauma before birth causes a birth defect. Often times, the cause of these abnormalities is unknown. Even if a child has a genetic problem, they may not have inherited it from their parents. Some of these problems occur due to a spontaneous error in the child’s cells, not in the cells of his parents.
  • The pregnant woman has already had two or more abortions. There are some chromosomal problems in the fetus that can sometimes lead to miscarriage. Having multiple miscarriages may indicate a genetic problem in the fetus.
  • The pregnant woman has had a stillbirth (stillbirth) with physical features typical of a genetic disease. Many serious genetic diseases cause specific and distinctive physical problems.
  • A child of the couple has medical problems that could be genetic. When a child has medical problems that affect more than one body system, genetic testing can help doctors find the cause and make a diagnosis.
  • A child of the couple has medical problems that are known to be part of a genetic syndrome. Genetic testing can confirm the diagnosis. In some cases, they can also help find the type or severity of the genetic disease. These tests help doctors find the best treatment to follow.

Looking to the future

In the future, during the physical examination, the diagnostic robot carrying the gene chip will take blood from the subject, and the result of the physical examination can be displayed on the computer screen. With genetic diagnosis, medical care will advance from the era of “mass medical care” to the era of “customized medicine” that varies according to individual genetics.


Advances in genetic testing have improved the way doctors diagnose and treat some diseases. But these tests have their limits. Genetic testing can identify particular problem genes. But they are not always useful in knowing how a problem gene will affect the person who has it. For example, in cystic fibrosis , finding a problem gene on chromosome 7 does not predict whether a child will have severe lung problems or only mild respiratory symptoms.

Also, being a carrier of problem genes is only part of the story. Many diseases develop due to a mix of high-risk genes and environmental factors, some of which the person can control. If a person knows that they carry high-risk genes, they may be able to make lifestyle changes to avoid getting sick.

Researchers have identified genes that put people at risk for developing cancers, heart disease, psychiatric disorders, and many other medical problems. The hope is that one day specific types of gene therapy will be developed to prevent some diseases and disorders.

Gene therapy is being studied as a possible way to treat conditions such as cystic fibrosis, cancer, ADA deficiency (an immunodeficiency), sickle cell disease , hemophilia, and thalassemia. Still, some patients have had serious complications while undergoing gene therapy. For this reason, research on this type of treatment is controlled so much.

There is a long time to go to be able to genetically treat some conditions. But there are also high hopes for the myriad of genetic cures that will be developed. The Human Genome Project, completed in 2003, identified all the genes (about 25,000) present on the chromosomes of humans. This genetic map is only the beginning, but it is an extremely hopeful beginning.

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