Why is genetic testing necessary during pregnancy? Who should get it done, when?

 Why is genetic testing necessary during pregnancy? Who should get it done, when?

Genetic testing is not something to be afraid of. Its purpose is to identify whether the child has any genetic problems in a timely manner.

According to pediatrician and genetic specialist Dr. Surbhi Aryal, although genetic testing is not necessary for everyone during pregnancy, it is considered very important in special situations.

It is natural for parents to have many questions and concerns about the health of the baby during pregnancy. In particular, whether the child has any congenital or hereditary problems has become a matter of interest for many.

In recent years, access to genetic testing has been expanding in Nepal as well, which has made it possible to identify some serious diseases in the womb. Who needs genetic testing? How much does family history affect? ​​When and which tests are performed? Is the test safe or not? And what options are available to parents if a problem is found in the test?

Pediatrician and genetic specialist Dr. A detailed conversation with Surbhi Aryal:

Should all women undergo genetic testing during pregnancy or is it only recommended for special situations?

Not all pregnant women need genetic testing. But in some special cases, it may be necessary if the doctor recommends it. For example, if the pregnant woman is over 35 years old, has had a genetic disease in a previous child, has a history of hereditary diseases in family members, or is suspected of having a genetic problem, then testing may be necessary.

Similarly, if a dual marker or quadruple marker test shows a risk, further confirmatory testing is required. In some cases, even if both parents are ‘carriers’ of a disease, testing of the unborn child is necessary. For example, if both husband and wife are carriers of thalassemia, special testing is done because there is a possibility of passing the disease on to the child.

How much does family history increase the risk of a genetic disease in an unborn child?

Family history is considered very important in genetics. Many genetic diseases are hereditary, so if someone in the family has the condition, the baby may also be at risk.

For example, some diseases, such as hemophilia or Duchenne muscular dystrophy, are X-linked, which means they are usually passed down from the mother's side. If a pregnant woman has a history of these diseases in her siblings or maternal grandparents, she should definitely tell her doctor.

Thalassemia, spinal muscular atrophy, and many other diseases can also cause the disease in her child if the parents are carriers. Therefore, it is important to be open about your family health history with your doctor during your prenatal check-up.

When is the best time to have genetic testing?

Different tests have different times.

NT scan: Between 11-13 weeks

Dual marker test: In the first trimester

Quadruple test: Up to about 20 weeks

NIPT: After 10 weeks

Chorionic villus sampling: At 12-13 weeks

Amniocentesis: After 14-15 weeks

When is the most appropriate test to perform?

Which tests are done depends on the age of the fetus, risk factors, and medical needs.

Which diseases can be detected through genetic testing?

Genetic testing helps identify many types of hereditary and chromosomal diseases. Down syndrome is one of the most commonly tested diseases. In addition, trisomy 13, trisomy 18, and other chromosomal problems can also be detected.

If there is a history of a specific genetic disease in the family or if the parents are carriers, monogenic diseases can also be identified through gene testing. Current technology has developed the ability to detect many types of genetic diseases during pregnancy.

How safe are these tests during pregnancy?

Many parents worry about whether genetic testing will affect the baby or the mother. But most tests are safe. Ultrasound and screening tests using maternal blood do not harm the mother or the baby. They are considered completely safe.

Invasive tests such as CVS or amniocentesis may have a small risk because they use needles. However, the risk is very low when performed by an experienced specialist. If the doctor recommends it, there is no need to be afraid.

What options do parents have if a problem is found in the test?

If the test shows a genetic problem in the baby, the first thing to do is to consult a geneticist, genetic counselor or pediatrician to understand the nature, severity and future of the disease.

Every disease is different. In some cases, special monitoring, additional tests or a plan to deliver in a special health facility may be made.

In some serious diseases, the baby's life expectancy may be very low. In such cases, a decision can be made about the available options with the advice of a specialist.

Is treatment possible after genetic diseases are detected in the womb?

Most genetic diseases are not curable by taking medicines like other diseases. In such cases, the main focus is on supportive therapy, rehabilitation services, regular monitoring and long-term management. Therefore, early detection of the disease is the most important aspect.

What is the access and cost of genetic testing in Nepal?

Until a few years ago, samples had to be sent abroad for many genetic tests. It was a situation where there was no such thing as a genetic test. Now, dual marker, quadruple test, NIPT and many invasive tests are available in Nepal.

However, these services are mainly concentrated in urban areas. They are yet to be expanded to rural areas. When it comes to cost, not all tests are very expensive. Some screening tests start at around Rs. 5,000, while some complex tests may cost more. Therefore, the idea that ‘genetic testing is very expensive’ is not entirely correct.

Does the risk of genetic diseases increase as the mother ages?

As a woman ages, the chances of changes in the chromosomes in the egg increase. This may also increase the risk of chromosomal problems in the child.

Especially when pregnant at the age of 35 or above, the chances of Down syndrome, trisomy and other chromosomal abnormalities are relatively high, so doctors recommend additional tests in such cases.

What are the common misconceptions or misconceptions about genetic testing?

There are still some misconceptions in society about genetic testing. First, the idea that ‘if no one in the family has a genetic disease, the child will not have it either’. In fact, not all genetic diseases are hereditary. Some can even appear in new forms.

Second, the misconception that ‘genetic testing is a test to distinguish between sons and daughters’. Its main purpose is to identify whether a baby has a genetic disease, not to determine gender.

Third, the idea that ‘this test is too expensive for ordinary people to get it done’. Not all tests are expensive and are recommended only according to medical necessity.

How do you see the future of genetic services in Nepal?

The future of genetic services in Nepal is very promising. The services currently available need to be expanded to rural areas, not limited to urban areas.

This requires skilled manpower, infrastructure, and government investment. Over time, this service is likely to become an important part of basic health care.

Finally, what is your message to parents?

Genetic testing is not something to be afraid of. The aim is to identify the child early if there is a genetic problem. If the doctor has advised screening or confirmatory testing, then you should do it with confidence.

If the disease is identified early, it is easier to provide the necessary counseling, planning, and management. Therefore, it is wise to prioritize the doctor's advice without getting confused.