Have your Fertility Specialist in Guntur For Genetic Testing

Table of contents

1. What is Genetic Testing during Pregnancy?

2. Is It Necessary to Get Genetic Carrier Testing Before Conceiving?

3. For which genetic conditions may I be tested?

a. Cystic Fibrosis (CF)

b. Fragile X Syndrome is a genetic disorder.

c. SMA (Spinal Muscular Atrophy)

d. Tay-Sachs Syndrome

e. Sickle Cell Anemia

4. When Should I Get My Genetic Carrier Tested?

5. What Is the Cost of Genetic Testing?

6. What happens if any of my test results are positive?

Introduction

Before attempting to conceive, parents are screened for abnormalities or illnesses as part of preconception testing.

Best Fertility Specialist in Guntur often known as genetic testing before pregnancy.

When deciding whether or not to have children, this can help people feel more educated about their personal health history.

Doctors can assist individuals in identifying any health concerns or difficulties related to fertility before attempting to conceive after analyzing the results.

Here's everything you should know about genetic testing prior to getting pregnant, including the many tests that are available and the associated expenses.

What is Genetic Testing during Pregnancy?

In the situation that you discover genetic alterations you were unaware of, genetic testing can be "quite beneficial for family planning," according to Dr. Sri Harsha, MS (OBG), DNB (OBG), FRM, and the third party reproduction specialist at the Institute for Reproductive Medicine and Science.

One way to find out if someone contains a gene for a particular genetic illness is through genetic testing, commonly referred to as carrier screening.

Targeted and broad carrier screening are the two varieties available. Testing for genetic conditions based on a person's ethnicity or family history is known as targeted carrier screening.

In this instance, samples of tissue, saliva, or blood are obtained in order to screen for particular illnesses that may run in a person's family.

Examining for several genetic illnesses is part of expanded carrier screening.

Physicians may use their own screening panel, which often consists of the most serious conditions that consumers should be aware of.

A straightforward blood or saliva test is also used for expanded screening, which can identify hundreds of different illnesses.

People will find out if they have an aberrant gene for a certain ailment or condition after obtaining their findings.

Each gene is given to a baby twice, once from each parent. If one copy of a certain gene is defective, the disease will be inherited by the child.

For this reason, parents may carry a condition without exhibiting symptoms of the disorder.

The other parent gets tested if the first parent is found to be a carrier of a condition.

Is It Necessary to Get Genetic Carrier Testing Before Conceiving?

Carrier tests are recommended by the American College of Obstetricians and Gynecologists (ACOG) for anybody who is expecting to become pregnant or is presently pregnant.

Testing should ideally be performed before to conception so that parents are informed of the danger of transferring genetic disorders to their children.

Although genetic testing cannot uncover every conceivable problem, the objective is to equip people with enough knowledge to make an informed decision regarding pregnancy or conception.

According to Dr. Nelluri Bharathi, MS (OBGY), Obstetrician & Gynecologist Laparoscopic Surgeon, individuals have the right to consult with their doctor and examine their choices before opting to pursue genetic testing.

"Some patients may not believe it is right for them and may not want the information," he said. "Although genetic testing might be offered or recommended, the patients have the right to leave whatever happens up to chance.”

For which genetic conditions may I be tested?

"We can now screen for over 500 different types of [disorders] depending on the company or test you are using," Dr. Sri Harsha said.

"This gives us the opportunity to prevent the transmission of inherited genetic disorders through the technology available and a simple blood test."

When determining which mutations to include, the ACOG suggests taking family history and ethnicity into account, in addition to the most frequent genetic diseases.

Genetic counseling, which helps patients comprehend the findings of their testing and make educated decisions along the process, may also be beneficial to parents.

Some of the most prevalent diseases discovered by genetic carrier screening are as follows:

Cystic Fibrosis (CF)

India now has over 40,000 children and adults living with cystic fibrosis. The disease cystic fibrosis affects the lungs, pancreas, and other organs.

Cystic fibrosis patients have difficulty breathing. The cystic fibrosis mutation causes a protein to malfunction, resulting in mucus accumulation in many organs throughout the body.

Cystic fibrosis (CF) was thought to be extinct on the Indian subcontinent.

Cystic fibrosis has been reported in India in the recent decade, however the exact size is unknown.

According to studies on migratory Indian populations in the United States and the United Kingdom, the prevalence of CF ranges from 1:10,000 to 1:40,000.

Fragile X Syndrome is a genetic disorder.

Fragile X syndrome, the most frequent form of hereditary intellectual impairment, affects roughly 1 in 7,000 boys and 1 in 11,000 females.

Fragile X syndrome is linked to lower-than-average IQ, developmental delays, and other co-occurring health issues such as seizures, autism, hyperactivity, concentration difficulties, and more.

SMA (Spinal Muscular Atrophy)

One in every 6,000 kids is born with spinal muscular atrophy (SMA), a set of genetic illnesses that cause muscle weakness.

Although symptoms vary, patients with SMA may require physical and occupational therapy, assistive equipment such as wheelchairs, or breathing help.

There is no treatment and symptoms often increase with time.

Tay-Sachs Syndrome

Although anybody might be a carrier, persons of descent are more likely to have Tay-Sachs disease, with one in every 27 people carrying the condition.

Deafness, blindness, convulsions, reduced muscular tone, dementia, and other symptoms may occur.

Sickle Cell Anemia

It is estimated that 100,000 persons in the United States have sickle cell disease.

This genetic disorder is more frequent in African Americans and Black people, but it can afflict persons of any color.

Sickle cell disease is a category of red blood cell diseases that can cause anemia, blood clots, and infections.

When Should I Get My Genetic Carrier Tested?

Those who are considering attempting to conceive, are pregnant, or have had difficulty conceiving should speak with their doctor about genetic carrier testing.

Doctors may also advise testing if the woman has had several miscarriages, a prior pregnancy or child with an inherited ailment, or the loss of a kid before the age of one year.

If you have a family history of specific health problems, genetic carrier testing may help you determine the possible risks of passing an illness on to a child.

"Just because a couple has healthy children doesn't mean they shouldn't elect to do genetic testing in the future," said Dr. Bharathi.

What Is the Cost of Genetic Testing?

As the technology used for genetic testing has evolved, the cost of DNA analysis has fallen in recent years.

Genetic testing may now be done with a single blood or saliva test rather than numerous separate procedures.

Genetic carrier screening can range in price from ₹15,000 to ₹30,000, depending on the type of tests conducted. Know about the success stories #BirthHelp

If your doctor recommends the tests, your insurance may pay them; however, if you have any doubts, you should call your insurance provider to see what your plan may cover.

"It does depend on the insurance, but typically the routine, recommended screening is covered in women who are either pregnant or trying to get pregnant," said Dr. Bharathi.

What happens if any of my test results are positive?

If test results for specific genetic diseases come back positive, prospective parents can discuss the results with their doctor to determine the risks of passing them on.

Genetic counselors can also evaluate data with patients and, if required, aid them in exploring their alternatives.

Individuals can then choose whether or not to use in vitro fertilization (IVF) to guarantee that certain genetic diseases are not passed on to their offspring.

If parents decide to pursue IVF, they might choose to have pre-implantation genetic testing (PGT). "Testing is done on cells extracted from embryos," reveals Dr. Sri. Harsha.

A donor gamete—an egg or sperm cell—can be used by some parents if test findings and personal preference indicate that it is a feasible option.

"Patients will already have genetic information of the gamete when they go to make the purchase so they can make sure they are also negative for any mutations," Dr. Sri Harsha said.

This option may be chosen by same-sex couples, persons who have experienced cancer or radiation, or those with lesser quality eggs.

If you want to discover more about your personal genetic information, you should consult with your general practitioner, reproductive endocrinologist, or OB-GYN. Your doctor can assess your individual circumstances and make recommendations for the next steps.