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Role of Genetic Counseling in High-Risk Pregnancies

genetic counseling in high risk pregnancy

Pregnancy is an extraordinary time filled with anticipation and hope. But when you hear the term “high-risk pregnancy,” it’s natural to feel a wave of worry.

If you’re navigating this complex path, you’re not alone. The good news is that advances in medicine, like genetic counseling, are here to provide guidance and clarity.

Understanding genetic risks doesn’t just help doctors prepare for potential complications; it empowers you and gives you confidence in your next steps.

This guide will explain everything you need to know about the role of genetic counseling in high-risk pregnancies.

Through simple language and real-life examples, we hope to provide you with clarity, comfort, and the information you need to make informed decisions.

Let’s also hear from Dr. Supriya Puranik, a trusted expert in genetic counseling, who has supported countless families during this pivotal time.

What Is Genetic Counseling?

To put it simply, genetic counseling is a process where professionals assess your genetic risks and provide advice to support your pregnancy decisions.

It’s a lot like having a skilled navigator by your side to explain a medical map you’ve never seen before.

Genetic counselors are highly trained specialists who help you understand how your genes, your partner’s genes, or both could impact the health of your baby.

They act as a bridge between complicated science and practical advice, ensuring you feel supported and informed.

Dr. Supriya Puranik explains, “Genetic counseling is not just about identifying potential risks. It’s about empowering parents with the right knowledge, so they can confidently plan what’s best for their family.”

⇒When Is Genetic Counseling Recommended?

While everyone can benefit from a better understanding of genetic health factors, certain situations make genetic counseling particularly important. If any of the following apply to you, genetic counseling could be a helpful step:

  • You’re over the age of 35 (advanced maternal age may pose an increased risk for chromosomal conditions).
  • Your blood tests or ultrasound scans during pregnancy show unusual findings.
  • There’s a known family history of genetic disorders, such as cystic fibrosis, muscular dystrophy, or sickle cell anaemia.
  • You’ve experienced multiple miscarriages or had a baby with congenital disabilities in the past.
  • You or your partner carry traits for conditions that are more common in specific ethnic groups, like Tay-Sachs or thalassaemia.

Dr. Puranik recalls working with an anxious couple who had a history of miscarriages. “They were unsure if they could carry a healthy baby to term. Through counseling, we identified specific genetic concerns and tailored their care plan. They now have a beautiful, healthy child. I could see how relieved and happy they were; it was truly rewarding.”

 

Why Is Genetic Counseling Important for High-Risk Pregnancies?

Every pregnancy is unique, but high-risk pregnancies bring additional challenges. Genetic counseling can play an essential role by helping you understand potential risks and take proactive steps. Below, we’ll go over several key benefits.


1. Assess and Manage Risks

If your pregnancy is flagged as high-risk, the reason may not always be immediately clear. Genetic counseling uses your personal and family medical history to assess whether conditions or genetic changes could affect your child.

For example, if tests or scans indicate irregularities, genetic counseling gives you a clearer picture of what’s happening.


2. Understand Testing Options

Expectant parents are often given several genetic testing options, including non-invasive prenatal testing (NIPT), carrier screening, chorionic villus sampling (CVS), or amniocentesis.

Your counselor will explain the purpose, process, and risks of these tests so that you can make decisions with confidence.


3. Offer Tailored Guidance

Navigating a high-risk pregnancy often involves complex decisions. Should you proceed with specific tests? What will happen if a genetic disorder is identified? Genetic counselors are there to present facts and possibilities, helping you make choices aligned with your personal values and preferences.


4. Provide Emotional Support

Learning about risks or uncertainties can feel overwhelming. Genetic counselors are empathetic listeners who provide both the technical guidance and emotional reassurance needed to support you through challenges.

Dr. Puranik puts it this way, “It isn’t just about facts and numbers. It’s about answering the ‘what ifs’ and being a steady presence for families walking through uncertain times.”

What to Expect During Genetic Counseling?

Meeting with a genetic counselor might sound intimidating at first, but the process is straightforward and supportive. Here’s how it typically works:


Step 1: Initial Meeting

Your counselor will begin by collecting information about your health, medical history, and family tree. They’ll ask about conditions that run in either side of your family, as well as your past pregnancies and test results.

Don’t worry if you don’t know your full family history. Counselors understand that genetic patterns can be complex, and they’ll guide you with thoughtful questions.


Step 2: Risk Assessment

Based on the information you’ve provided, your genetic counselor will analyse any risks for inherited conditions, such as chromosomal abnormalities. This assessment gives you a clearer understanding of what’s possible and what isn’t.

Step 3: Discussion of Testing

Your counselor will review available genetic tests, explaining what they do, how they’re done, and what kinds of insights they provide. For example:

  • Carrier Screening checks whether you carry recessive genetic conditions.
  • Non-Invasive Prenatal Testing (NIPT) uses a blood test to detect chromosomal abnormalities.
  • Diagnostic Tests, like CVS or amniocentesis, gather more detailed genetic information but have slight procedural risks.


Step 4: Results and Recommendations

When your results are in, expect a straightforward explanation. Genetic counselors won’t overwhelm you with technical jargon. Instead, they’ll help you understand what the data means for your baby’s health and suggest next steps.


Step 5: Support and Planning

Lastly, the genetic counselor will help you create an action plan. Whether the goal is extra monitoring, exploring treatment options, or simply having peace of mind about your baby’s health, your counselor will ensure you feel prepared.

Addressing Common Concerns About Genetic Counseling

It’s natural to have questions or even worries about genetic testing or counseling. Some of the most common concerns include:

“Does genetic testing guarantee a diagnosis?”

Not always—but testing identifies risks and provides valuable insights. Even when no issues are detected, genetic testing offers peace of mind.

“Will it harm my baby?”

Non-invasive options like NIPT are completely safe because they involve only a maternal blood sample. Procedures like amniocentesis do carry small risks, but they’re rarely recommended unless absolutely necessary.

“What if I receive bad news?”

While receiving unexpected results can be tough, being prepared allows doctors to develop early treatment plans. Some genetic conditions can be treated in-utero or immediately after birth for better outcomes.

Dr. Puranik notes, “Parents often expect the worst, but many conditions are manageable with early preparation and care. I focus on helping families see the path forward, no matter the outcome.”

Real-Life Impact of Genetic Counseling

To demonstrate the life-changing power of genetic counseling, here’s one of Dr. Puranik’s remarkable cases:

“A woman in her early 40s came to my clinic after learning her routine bloodwork indicated a possible chromosomal issue. She was devastated and spent weeks anxious about her options.

We performed additional testing and confirmed a manageable genetic condition. With a dedicated care plan, she gave birth to a healthy baby who is now thriving at three years old. Watching her confidence return during that time was unforgettable.”

Is Genetic Counseling Right for You?

If you’re weighing whether to pursue genetic counseling, remember this: It’s not just for families with a known history of genetic disorders.

Anyone with questions about their baby’s health can benefit from the personalised support and information this service provides.

Genetic counselors’ mission is to replace uncertainty with understanding, so you leave each appointment feeling equipped to make decisions that work for you.


Final Thoughts

Pregnancy is a unique, magical experience—but if you’re navigating a high-risk pregnancy, it can feel overwhelming. Genetic counseling offers a way to take control, learn more about your baby’s health, and feel prepared for whatever comes next.

From evaluating risks to explaining complex results, experts like Dr. Supriya Puranik dedicate themselves to guiding families through this deeply personal process. Whether you’re seeking answers, options, or just some peace of mind, genetic counseling remains one of the most empowering tools expectant parents can access.

By taking this step, you’re choosing knowledge, preparation, and ultimately, a chance to give your baby the healthiest possible start in life.

Don’t hesitate to reach out and explore your options. You and your baby deserve clarity and care every step of the way.

  • About Author

    Dr. Supriya Puranik

    Gynaecologist & IVF Specialist

    MMC -072514 (1993)

Dr. Supriya Puranik, a renowned gynaecologist and infertility expert, leads the IVF & Gynaecology department at Sahyadri Hospitals Momstory in Shivaji Nagar, Pune. She is committed to helping couples overcome infertility challenges.

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