Why is Prenatal Genetic Counselling Important before Starting a Family?

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If you are already expecting or considering having a baby, you and your spouse may feel joyful, excited, and nervous – all at the same time. You may even get anxious and fearful about being a mother and the health of your child. It is usual for soon-to-be moms and partners to be confused, so don’t feel alone and helpless. Instead, look for ways to seek guidance and helpful information that may come to your aid. One such solution is preconception consultation. During this counselling service, your doctor will guide on how to go about planning your pregnancy and essential things that should be taken into consideration. It is also the perfect time to ask your doctor all the things occupying your mind. It could be as simple as what exercise is okay for me during pregnancy or as crucial as what vaccinations should I get and when? Additionally, you must also tell your doctor about any health concerns that run in your families, such as hypertension, diabetes, or cancer. If this is one of the fears you have, then a prenatal genetic counselling session is crucial.

The prenatal genetic counselling session is a healthcare service during which a certified healthcare worker will interpret your family medical history to assess the risk of genetic diseases. During this session, you and your partner can learn about –

  • The risk of a genetic disorder to your future child
  • Genetic tests that can help check for genetic birth diseases
  • Choose whether or not these tests should be taken

Genetic tests can be performed on a fetus (unborn baby) to see if the baby will have a genetic disorder, like thalassemia or Down syndrome. Likewise, you and your partner can undergo genetic tests to confirm whether or not you are at a higher risk than others for passing on genetic disorders to your baby. These tests are simple; all you need to do is seek the services of a company like truGeny that offers genetic counselling services and genetics tests. The company will get you connected with a genetic counsellor and conduct genetic tests. A few weeks after the tests, your reports will be ready, and a genetics professional will explain the findings to you and your partner.

Who is genetic testing suggested for?

  • Couples who have family members or children with genetic or birth disorders
  • Couples who have had three or more miscarriages (fetus dies before 20 weeks of pregnancy)
  • Jews of Eastern European descent, as they may have an increased of having babies with Tay-Sachs or Canavan’s disease
  • African-Americans, as they may have an elevated of having babies with sickle-cell anemia (a blood disease)
  • People of Southeast Asian or Mediterranean origin, as they may have an increased of having babies with thalassemia (a blood disease)

It is recommended that all expecting women must undergo genetic tests. However, those at a higher risk are:

  • Women who were exposed to toxins (poisons) that can trigger a birth disorder
  • Women with a health problem that may affect their fetus, such as diabetes
  • Women with abnormal results on pregnancy screening, such as alpha-fetoprotein (AFP)
  • Women whose fetus shows abnormal results on pregnancy ultrasound reports

The test results will –

  • Prepare yourself to a chance of having a baby with a genetic problem
  • If you have a baby with a genetic disorder, then what are the treatments or surgeries available
  • Help decide if you wish to continue the pregnancy; in some cases, the baby’s problems might be severe

It’s important to note that the purpose of prenatal genetic counselling is to help couples make decisions. A genetic counsellor will only help you decipher the information you get from your tests. The counsellor will talk to you about options and resources, but the decisions are yours to make.

All you need to Know about Genetic Counselling

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Genetic counselling is a health service provided to give information and offer support to people who have or may be at risk for genetic disorders. During the counselling session, discussions about the various genetic risks take place and also the need for genetic tests is confirmed or ruled out.

The process involves:

  • Looking back at the family medical histories to assess the risk of genetic diseases.
  • Educating about inheritance, testing, management, and prevention of hereditary ailments.
  • Counselling to help individuals and/or families make informed choices and adapt to the risk or condition.

Who offers Genetic Counselling?

This service is offered by professionals such as genetic counsellors (certified healthcare workers with experience in medical genetics and counselling)and medical geneticists (doctors who specialize in genetics). These counselling sessions are usually held in-person visits with individuals or families, but with the advent of mobile phone technology, more and more of these counselling session are being conducted over the telephone or in a group as well. The counselling sessions take place in a doctor’s office, hospital or at a genetics centre.

Who can request for Genetic Counselling?

Any individual concerned about an inherited condition can choose to go for genetic consultation. It plays a crucial role in the decision-making process for genetic testing.

People may be referred to a genetic counsellor for the following reasons:

  • Personal or family history of a genetic condition, chromosomal disorder, congenital disability, or hereditary cancers.
  • High risk of developing or passing on a particular genetic disorder based on a person’s ethnic background
  • People related by blood (for example, cousins) who plan to have children together. (Child whose parents are related may be at an elevated risk of inheriting certain genetic disorders).
  • Women who might have had multiple miscarriages, or had a still birth.
  • A child with a known inherited disorder, intellectual disability, birth disorder, or developmental delay
  • A woman who is expecting or plans to become pregnant at or after age 35, because some chromosomal disorders occur more frequently in children born to older women
  • Abnormal test results that suggest a genetic or chromosomal condition

What happens during a Genetic Counselling Session?

When an individual seeks genetic counselling, he/she is provided with information about genetics and specific questions and concerns are addressed. The genetics professional will ask about a person’s medical history and take a detailed family history to help determine whether a condition has a genetic component. A physical examination may also be performed, and appropriate tests may be suggested.

For individuals who are diagnosed with a genetic condition, the counsellor will interpret and communicate complex medical information to explain the diagnosis and how the condition is inherited. The counsellor will also discuss the risk of passing the condition to future generations and the options for testing and treatment.

A genetics professional will NOT:

  • Advise a couple not to have children
  • Recommend that a woman should continue or end a pregnancy
  • Tell a person which decision to make
  • Women who might have had multiple miscarriages, or hada stillbirth,

How are Genetic Conditions diagnosed by a Counsellor?

After analyzing a patient’s medical history, family medical history, and DNA results through laboratory tests, including genetic testing, diagnoses will be made. Genetic diagnoses can be made anytime during life, from before birth to old age. Having a diagnosis can help in making treatment and management decisions. It can also assist individuals to know what to expect and help them identify useful support and advocacy resources.

How can I find a Genetics Professional in my Area?

To find genetics professional in your area, you may ask your doctor for a referral. If you have a family history of cancer or heart disease or if you are planning to have a family, then don’t wait.You can seek genetic counselling assistance from truGeny A convenient way to understand your health risks from the comfort of your home.

Top 5 Genetic Birth Disorders – An Overview

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Over 8 million infants worldwide are born with gene-related congenital disabilities, concludes research conducted by March of Dimes, a non-profit organization that works towards improving the health of mothers and babies. The research further highlights that there are around 7,000 genetic or partially genetic birth disorders. The five genetic birth disorders to top this list are as follows:

Congenital Heart Defects

Congenital heart defects affect more than a million births worldwide every year.

Congenital heart defects (CHDs) are triggered when there is an abnormal formation of the heart during the fetal development stage. CHDs are of 3 types – problems that either causes too much blood to pass through the lungs, too little blood to pass through the lungs or too little blood to travel to the body. In some cases, there could be a combination of many heart defects. CHDs are the leading cause of birth disorder-related deaths. They require extensive treatment in the form of various medications that help the heart work more efficiently. Based on the severity of the heart defects, paediatric cardiologists can also suggest for procedures using catheterization, open-heart surgery, or heart transplant. Since CHD is very dangerous and can cause sudden cardiac death, lifelong monitoring, and treatment is necessary.

Neural Tube Defects

Neural tube defects affect more than 324,000 births worldwide every year.

Neural tube defects (NTDs) are of two types: open and closed. The open NTDs occur when a defect in the skull or vertebrae (backbones) keeps the brain and/or spinal cord exposed at birth. Anencephaly, hydranencephaly, encephaloceles, schizencephaly, iniencephaly and spina bifida are some of the open NTDs. The rarer types of NTDs, closed NTDs, occur when the spinal defect is covered by skin. Tethered cord, lipomyelomeningocele, and lipomeningocele are some of the closed NTDs.

Most NTDs can be prevented by ensuring the expecting mother gets enough folic acid, a type of B vitamin. A paediatrician usually identifies neural tube defects before the birth of a baby through lab or imaging tests. Sadly, there is no cure for NTDs, and the nerve damage and loss of function are usually permanent. But, various treatments can help prevent further damage and complications caused by NTDs.

Blood Disorders

Blood disorders affect more than 307,000 births worldwide every year.

Red blood cells in the body do not last forever and are needed to be produced after some time. When the body is unable to produce red blood cells, blood disorders are caused. Blood disorders can be transmitted from parents to children by genes on chromosomes. Some of the common blood disorders are sickle cell disease and thalassemia. They can be treated with the help of medications, folic acid supplements, bone marrow transplants, and therapies.

Down Syndrome

Down syndrome affects more than 217,000 births worldwide every year.

Down syndrome is caused when a child has a partial or full extra copy of chromosome 21. There are three types of Down syndrome – Trisomy 21 (Nondisjunction), Mosaicism or mosaic Down syndrome, and translocation.

Depending on the severity, Down syndrome can cause lifelong intellectual disability and developmental delays. It can cause learning disabilities in children, and trigger other medical abnormalities, such as heart and gastrointestinal disorders.

Currently, there’s no means to prevent Down syndrome. Receiving routine medical care can help improve the lifespan and quality of life for people with Down syndrome.

G6PD Deficiency

G6PD deficiency affects more than 177,000 births worldwide every year.

G6PD deficiency is the enzyme deficiency that causes anemia. It causes the destruction of red blood cells in response to a set of medications, infections, or other stresses. G6PD deficiency can only be diagnosed via a blood test when a child shows signs of it. It is usually treated in the hospital by providing oxygen and fluids. In some cases, a transfusion of healthy blood cells may be suggested. Though treatment can help, G6PD deficiency cannot be cured. It requires monitoring at regular intervals through lab or imaging tests.

How to Limit the Frequency of Birth Disorders?

Certain birth disorders cannot be prevented. However, the use of prenatal genetic screens and preimplantation genetic diagnosis (PGD) can prove beneficial in limiting the frequency and severity of birth disorders. Expecting parents should also undergo genetic tests to identify themselves at risk for probable diseases and the possibility of passing a bad gene to their future children. This test will help parents and doctors to pick the right development programs for their child.

Genetic Testing Helps Identify Inherited Heart Condition

Genetic Testing for Inherited Heart Disease

Kristen Criss, aged 38 from Riverside, California, was always battling health issues like arrhythmias or irregular heartbeats triggered by electrical malfunctions in the heart. When her heart was not once but eight times shocked back into a normal rhythm while pregnant, she was determined to know the exact cause of this. After all, her mother and sister had passed away due to a heart condition, while her father had succumbed to complications from a stroke. “Genetic Testing for Inherited Heart Disease

Criss was determined to find the reason behind the heart-related complications, and hence recently took a genetic test. The test revealed that she is suffering from hypertrophic cardiomyopathy (HCM), the same condition that took the life of her mother and sister at ages 40 and 33, respectively. She also learned that arrhythmia is a symptom of HCM, a rare condition associated with sudden cardiac death. This condition occurs when heart muscle cells enlarge and in turn cause the walls of the ventricles to thicken. Once the ventricle walls are thickened, blood flow gets blocked.

Then, in February 2018, Criss was at a high risk of cardiac arrest due to HCM. So, the doctors implanted a cardioverter defibrillator under her skin. The cardioverter defibrillator is a small device that shocks the heart back into a normal rhythm when it starts to beat irregularly.

Knowing that three members of the same family suffered from the same condition, Criss was frightened for her children – daughter Sariah and sons Braxton and Avery. Were they at high risk for HCM? Or like her, did they have HCM? To seek answers to her questions, Criss arranged genetic tests for her kids. All three were tested negative for the genetic mutation related to HCM. The good news was celebrated with some ice cream and joyful smiles.

“The disease literally stops with me,” Criss said.

Kristen’s experience goes on to show the power of genetic testing. Most people around the world are still unaware of the more than 6000 genetic disorders and how they can impact our lives. Hence, it’s essential to seek genetic counselling to understand our risk for genetic disorders. You can seek genetic consultation in India at truGeny. The healthcare company not only offers genetic counselling, but also genetic tests to determine your risk for cancer and cardiovascular diseases. “Genetic Testing for Inherited Heart Disease