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.

Eating more legumes and soybeans reduces the risk of high blood pressure by 30 percent

 Eating more legumes and soybeans reduces the risk of high blood pressure by 30 percent

Eating about 170 grams of legumes daily reduces the risk of high blood pressure by about 30 percent.

Regular consumption of legumes and soybean-based foods is very effective in reducing the risk of high blood pressure, a new study has shown. According to a large report published in the journal 'BMJ Nutrition Prevention and Health', people who eat more of these foods are found to be much less likely to have high blood pressure.

Analyzing various studies conducted around the world, scientists have found a clear result. The risk of high blood pressure has been found to be reduced by 16 percent in people who eat more legumes. Similarly, this risk has been found to be reduced by 19 percent in people who eat more soybeans and dishes made from them.

According to the research, eating a certain amount of these foods daily is the most beneficial. Eating about 170 grams of legumes daily reduces the risk of high blood pressure by about 30 percent. Similarly, eating 60 to 80 grams of soy foods daily reduces the risk by 28 to 29 percent.

But scientists have said that eating more than that does not provide any additional benefit. Here, 100 grams of beans or soybeans is understood to be one cup of cooked beans or about 5 to 6 tablespoons.

This research included data from 12 long-term studies conducted in various countries in the United States, Europe and Asia. Beans and soybeans are rich in elements such as potassium, magnesium and fiber. These nutrients help balance blood pressure. The fiber in beans relaxes and widens the blood vessels in the body. In addition, a substance called 'isoflavones' found in soybeans also helps reduce blood pressure.

Currently, people in countries around the world, including Europe and the UK, eat very little beans. Although it is recommended to eat 65 to 100 grams of legumes daily for heart health, people are only eating 8 to 15 grams per day.

According to nutritionists, this research provides a strong basis for people to prioritize legumes and soybeans as the main sources of protein in their daily diet.

How does environmental pollution affect reproductive health?

 How does environmental pollution affect reproductive health?

It can weaken the quality of eggs. Ovarian function can decrease prematurely. Hormonal imbalance can occur.

Studies have shown that environmental pollution and harmful chemicals are having a serious negative impact on human hormonal systems and reproductive health.

Today, the world is facing the challenges of climate change, air pollution, and environmental degradation. The debate on environmental protection often focuses on the protection of forests, wildlife, rivers, and natural resources. However, scientific research in recent years has revealed that environmental risks are not limited to nature alone but also have a profound impact on human health, especially reproductive health.

The air we breathe, the food we eat, the objects we use, and the environment we live in can directly affect our body's hormonal system, reproductive capacity, and the health of future generations.

Therefore, environmental protection today has become not only a campaign to save the earth, but also a campaign to secure the health and future of future generations.

Environmental Pollution and Reproductive Health

In modern lifestyles, we are exposed to various chemicals on a daily basis. Some of the elements found in plastic bottles, pesticides used in food production, industrial pollution, smoking, chemicals in cosmetics, and polluted air are called endocrine disrupting chemicals.

These chemicals can affect the body's hormonal system. Since hormones are the basic regulators of the reproductive process, an imbalance in them can affect everything from conception to childbirth.

Impact on women

Environmental risks can also have a serious impact on reproductive health in women. This can weaken the quality of eggs. Ovarian function can decrease prematurely. Hormone imbalances can occur. Difficulty in conceiving can occur. Miscarriages and pregnancy-related complications can increase. It can also affect the success of fertility treatments.

Research has shown that environmental pollution can also affect the outcome of treatment, especially in couples undergoing infertility treatment.

Effects on Men

Long-term exposure to environmental pollution and harmful chemicals can cause various problems in male fertility. Sperm count may decrease. Sperm motility may decrease.

Sperm quality may decrease. Sperm DNA may be damaged. The chances of conception may decrease. Various studies are raising concerns about the gradual decline in sperm count in men around the world, in which environmental pollution is seen as a significant cause.

The relationship between air pollution and infertility

According to the World Health Organization, air pollution is one of the leading causes of global health risks today. Recent research has indicated that there is a direct relationship between air pollution and reproductive health.

A fact sheet presented at the European Society of Human Reproduction and Embryology 2025 stated that people living within 200 meters of a main road are at higher risk of infertility than other people.

It also states that the chance of pregnancy can increase by about 3 percent for every additional 200 meters away from a main road. This has further clarified the link between traffic pollution and reproductive health.

Pregnancy and air pollution

The effects of air pollution are not only visible before conception, but also throughout pregnancy. Fine particulate matter PM 2.5 can enter the bloodstream through the lungs and reach the unborn child. This has the potential to affect fetal development.

Climate change and maternal health

Climate change has not only increased temperatures, it has also added serious challenges to the health of pregnant women and newborns. Pregnant women exposed to extreme heat may have an increased risk of premature birth.

Low-birth-weight babies may be born. The risk of stillbirth may increase. High blood pressure may occur during pregnancy. Longer hospital stays may be required.

Rising temperatures, heat waves, floods, inundations and natural disasters are also affecting pregnant women's access to health services.

Global impact of the climate crisis

According to the World Health Organization, about 3.6 billion people in the world live in areas highly vulnerable to the health impacts of climate change.

The impact is not the same for everyone. Economically and socially vulnerable communities, women in rural areas, pregnant women and newborns are at higher risk. The impact can be even more severe in communities with limited access to health services.

What should be done now?

The evidence on the link between climate change, environmental pollution and reproductive health is constantly strengthening. Therefore, it is now necessary to look at public health, the environment and climate change from an integrated perspective, not as separate issues.

- To this end, air pollution control should be prioritized. The use of clean and renewable energy should be increased.

- The use of plastics and harmful chemicals should be reduced. Special attention should be paid to the safety of pregnant women and newborns.

- Climate-resilient health systems should be developed.

- Investment in scientific research and evidence-based policymaking should be increased A campaign should be launched at the community level to adopt an environmentally friendly lifestyle.

Brain power can improve even at the age of 90

 Brain power can improve even at the age of 90

A new study has been made public, challenging the common belief that mental acuity and thinking ability weaken with age.

A study from the University of Texas has found that the brain health of people over the age of 90 can also be improved.

Published in the scientific journal 'Scientific Reports', 3,966 people aged 19 to 94 participated in this research.

According to the research, 5 to 15 minutes of brain exercise daily can significantly improve a person's thinking clarity and emotional balance.

31 Jestha, Kathmandu. A new study has been made public, challenging the common belief that mental acuity and thinking ability weaken with age. A three-year study conducted by researchers at the 'Center for Brain Health' under 'The University of Texas at Dallas' has shown that the brain health of people over the age of 90 can also be improved.

The study, published in the journal Scientific Reports, involved 3,966 people aged 19 to 94.

During the study, participants engaged in a variety of brain-training activities for just 5 to 15 minutes a day. After three years of continuous tracking, researchers found measurable improvements in their thinking clarity, emotional balance, and outlook on life.

To measure this change in brain health, the research team used a special method called the ‘Brain Health Index’. This index evaluates about 20 indicators, including a person’s sleep quality, happiness level, and ability to think complexly.

According to the study’s lead author, Dr. Lori Cook, each person’s brain is as unique as a fingerprint and always has the potential to develop. This study has proven wrong the old belief that the brain must weaken with age.

Another interesting aspect of the study is that participants with the lowest initial brain health scores showed the greatest improvement over time. People with lower scores were more concerned and motivated about their mental health, so they invested more time in the practice, which resulted in better results, the study found. However, signs of improvement were also recorded in people with already good mental abilities.

Dr. Sandra Bond Chapman, chief director of the Center for Brain Health, explained that brain capacity is determined not by age but by potential. According to her, efforts to keep the brain healthy before any problems or diseases appear in it are very effective even in old age.

According to the researchers, factors such as a person’s age, gender or educational level do not make a difference in brain improvement, but rather how much a person engages in these exercises plays a key role. To further clarify this issue, more than 1,200 brain scans (brain imaging) of about 400 participants in the Dallas area are also being conducted.

Development of a medicine to cure gum disease from bitter gourd and pomegranate peel

 Development of a medicine to cure gum disease from bitter gourd and pomegranate peel

A combination of bitter gourd and pomegranate peel has opened up a new way to solve the problem of pain and wear caused by severe gum disease (periodontitis). Brazilian scientists have developed a special biomaterial by combining bitter gourd, pomegranate peel juice and the cholesterol-lowering drug simvastatin.

The study, conducted by researchers at the Pontifical Catholic University in São Paulo, Brazil, has been published in the scientific journal ‘Polymer Bulletin’. Severe gum disease gradually destroys the bones and tissues that support teeth, which leads to tooth loosening and loss.

Although currently available treatments reduce infection and swelling, they cannot regenerate the destroyed tissues or bones.

To overcome this limitation, scientists have used bitter gourd. Since the bark of the tree has a strong natural ability to stick (mucoadhesive property), it helps to keep the medicine and natural ingredients stuck to the gums for a long time. This eliminates the need for frequent use of antibiotics. All three ingredients used in this technique have different and important roles.

The bark of the tree acts as a base to keep the medicine stuck to the infected part of the gums for a long time, while the antimicrobial properties of the pomegranate peel juice fight harmful germs and infections in the gums. Similarly, the drug simvastatin reduces swelling and helps in the growth of new bone (osteoinduction).

Since most of this medicine is absorbed by the liver when taken directly as a pill, it would have to be taken in large quantities to reach the gums, which could cause side effects such as muscle weakness. However, when applied directly to the gums through this new gel, even a small amount works safely.

Initial laboratory tests on human stem cells have shown significant improvements in the process of new bone formation within 14 to 21 days of using the gel.

According to Professor Eliana Aparecida de Rezende Duque, coordinator of the research team, this gel made from the bark of the thorn bush, which has not received much attention in medical science until now, could be a revolutionary step in the treatment of teeth and gums in the future.