Posted under Fertility Treatment by Dr. Dipanjana Dutta



Genetic counselling - read this before going for a genetic consult?

What happens during a genetic consultation?         

During a genetic consult, the genetic expert understands the different symptoms and takes a three-generation family history asking questions which are pertaining to clinical manifestations.  Based on this information and further discussion with the referring clinician, a genetic test is recommended. The family is then counseled about the diagnosis, prognosis, and also available options of management or in few cases variable options for treatment.  The genetic diagnosis helps the genetic expert to also confirm the provisional diagnosis made by clinicians and predict recurrence risk in the next generation.  This discussion involves understanding the social, economic background of the family and understand the concerns and help them in making informed choices.

Can you break down the evaluation and testing process for genetic diagnosis of unknown Genetic disorder Vs a Know Genetic disorder                             

A clinician refers a family based on certain concerns. Genetic testing is not a one test fit all kind of a test. Also, the analysis is a bit complicated. Hence detailed information is needed and a pretest counseling is done to the family so that they understand why this was recommended and what test are they doing and what are the outcome and possible expectations from the report.  

Once done the genetic expert along with the clinician would suggest the tests depending on clinical manifestations, age of onset, family history, the inheritance pattern, the etiology, population incidence the other parameters. Once the report arrives it might be relevant or might be likely relevant or might not be useful. To establish this there can be further family studies that might be needed especially in case of an unknown variant identified. At times further biochemical or radiological tests can also be done in view of the genotype identified to correlate or establish the finding.  Based on the genotype identified through the genetic test and the clinical correlation, a diagnosis can be established.                 

In the case of a known genetic disorder targeted testing for that particular disorder or that group of disorders can be done.

Why is Family history necessary? What if there is no way of providing such information?                 

Family history is needed to understand the inheritance pattern of the disease which gives a clue to the genetic etiology. In cases where no family history is available; say… if the child is adopted etc, in such cases we have to depend only on clinical indications and biochemical and radiological evaluations in order to understand the disorder.       

How can Genetic counseling help for couples with recurrent pregnancy loss but have no family history of Genetic disorder?

Recurrent pregnancy loss can be due to multiple reasons. It can be due to anatomical reasons, infectious reasons, endocrinological reasons, immunological reasons, thrombophilia, chromosomal or genetic reasons. When a couple is referred, a genetic expert would look into each of these aspects. Family history and targeted questioning would help to understand additional information like the presence or absence of PCOD, or the possibility of genetic disorders like myotonic dystrophy or the possibility of recessive gene disorder than render the fetus lethal.

Also, the genetic expert would study and understand the possibility of chromosomal problems. Couples can be carriers of balanced translocation which can cause chromosomal aneuploidy in the embryos. There is also some form of hereditary thrombophilia like the HRG gene which is not picked up in regular thrombophilia workup. So a genetic expert will help to unravel these aspects of recurrent pregnancy loss. And help them plan a pregnancy in a more informed way through proper management options.  

How is the recurrence risk of a genetic disorder calculated?

Recurrence risk is calculated on the basis of the inheritance pattern, penetration of the gene, and population prevalence.

Is there a definitive way of knowing if the developing fetus is carrying the genes for a couple with known genetic factors in the family?

If there is an established diagnosis in the index child or the index family member then there is a definitive way to know the status of the Fetus through prenatal diagnosis. Couples would then be referred for invasive fetal diagnosis procedures like Amniocentesis / Chorionic villi sampling to get a sample of Fetal DNA which would undergo further DNA analysis to see if it carries the know genetic mutation.

What are the common disorders that can be screened by prenatal screening?

Chromosomal aneuploidies, thalassemia, etc. are routinely screened. If there is any established genetic diagnosis that can also be investigated.      

How many genetic disorders are out there that fall under the panel of genetic testing?

There are many kinds of genetic disorders. What we can test is basically the single-gene disorders which consist of about 7000 diseases. It is important to remember that Genetic testing is not one test fit all. So even if there are disease type aggregates and panels, genetic testing is always based on the clinical manifestations and family history.  

In the case of an asymptomatic carrier screening couple, they are screened based on the population incidence of genetic disorders - few disorders are more common in a few families. Normally for carrier screening autosomal recessive Gene like an inborn error of metabolism, various storage disorders,  bone disorders, blood disorders,  neuromuscular, neuromotor, cardiomyopathy, etc., related Genes are screened which means those Genes that cause disease when two mutant copies are present.

What would be your step by step approach for a couple whose prenatal screening indicated a higher risk of a certain genetic disorder?

Explain the diagnosis,  prognosis, set their expectation to what they will experience, discuss about the quality of life for the fetus, management/treatment of the disease-related questions, implications of the disease in the life of the fetus, whether this is pro-life or has a poor outcome. Couples are also often referred to a patient support group if indicated to talk about day-to-day concerns and understand the disease prognosis from their point of view.  Couples also are counseled about recurrence risk if indicated. Discuss about planning the next pregnancy and management options available.

About the author

The author, Dr. Dipanjana Dutta is a Fertility Consultant at Care IVF Kolkata. For an appointment with the doctor, call +91-33-66-398-600. You can also book a Skype Consultation here.


    Leave a Comment

    Related Posts

    Assessing Tubal Damage through Tubal Patency Tests
    Understand the pathophysiology behind tubal factor infertility, what causes tubal blocks and what a ...
    Read More
    Imaging the uterus better with Saline Infusion Sonography (SIS)
    Understand how Saline Infusion Sonography helps visualise the uterine cavity better and allows detec ...
    Read More
    Folliculometry – The best way for Ovulation Tracking.
    Understand the role of follicular study in tracking follicular and endometrial growth, predicting ov ...
    Read More
    Understanding Turner Syndrome and Conception Options
    What are the conception options for people with turner syndrome? How can pe ...
    Read More
    Pre-implantation Genetic Testing for Aneuploidies (PGT-A) simplified for couples.
    PGT-A is being recommended more often these days for couples with multiple IVF failures, recurrent m ...
    Read More
    Significance of laparoscopy in managing female subfertility
    Laparoscopic surgery is often recommended for infertile women before IVF. This article will help you ...
    Read More
    6 Major Fertility Breakthroughs that have helped improve IVF outcomes
    Assisted Reproductive Technology is a constantly evolving field with research focussing on improving ...
    Read More
    Understanding Premature Ovarian Insufficiency
    What is Primary Ovarian insufficiency? what causes premature Menopause and what is the treatment app ...
    Read More
    What are the Factors that contribute to Male Infertility?
    Male Infertility can be caused by a variety of factors that can be categorized into Pre Testicular, ...
    Read More
    What are the techniques of surgical sperm retrieval?
    Understand how sperms are aspirated surgically during IVF procedure and what are the different ways ...
    Read More
    What happens if you have an Ectopic Pregnancy?
    When the fertilized egg implants anywhere except the uterine lining, it is called an ectopic pregnan ...
    Read More
    What is recurrent pregnancy loss? How to improve conception chances if you have RPL?
    Understand what is recurrent pregnancy loss and why does it happen. What are the tests needed to und ...
    Read More
    What is the role of genetic factors contribute to recurrent pregnancy loss?
    Understand why genetics factors play an important role in infertility especially when all is well bu ...
    Read More
    Genetic testing through Microarray - Who should go for this?
    Chromosomal microarrays form the basis of Pre-Implantation genetic testing. Understand its significa ...
    Read More
    How does hydrosalpinx effect female fertility?
    Understand the condition of Hydrosalpinx, what causes it, and how it affects female fertility. How i ...
    Read More
    Renting a Womb - A Guide To Getting Started With Surrogacy
    Is surrogacy for all couples? Who is eligible for surrogacy and where to start? where do you begin? ...
    Read More
    What to consider before you decide to opt for IVF treatment
    Getting an IVF done is not the first or natural choice for any couple desiring to have a baby. It is ...
    Read More
    Why is Sperm DNA Fragmentation Tests for male partner necessary in IUI and IVF?
    Sperm DNA fragmentation test is a crucial test in male infertility cases to check the extent of DNA ...
    Read More
    4 Steps to Coping with - PAIN - of IVF failures
    This article talks about the 4 simple steps of embracing grief of Failure, deal with it and how to m ...
    Read More
    Role of Endometrial Receptivity in Implantation Failure In IVF
    Find out what is endometrial receptivity and window of Implantation and how it impacts the implantat ...
    Read More
    Understanding Ovulation Induction. Why is it important in fertility Treatment?
    Every Couple facing Conceptions issues are given medicines/ injections to help them ovulate. Ovulati ...
    Read More
    Male Infertility Causes and Treatment | Antioxidant therapy to combat sperm damage
    What is oxidative stress and how does it cause male infertility. How does ROS alter sperms parameter ...
    Read More
    How DNA Fragmentation and Microfluidics are changing how we assess Sperm Quality
    Classical semen analysis is based mainly on sperm count, the number, ability of the sperm to swim an ...
    Read More
    Low – Cost Fertility treatment and EMI Financing options is building hope for couples from Low Income groups
    In private clinics the cost of an IVF cycle in the state varies anything between Rs. 1 lac and Rs. 2 ...
    Read More
    PRP therapy is giving hope to couples advised for Egg donation to conceive with their own eggs
    PRP or Platelet Rich Plasma is an extract from the blood which has a concentrate of Platelets and ot ...
    Read More
    Why Pre Implantation Genetic Screening of Embryos is recommended after IVF Failure?
    The majority of abnormal embryos are indistinguishable from normal embryos when studied using a micr ...
    Read More
    Personalised Embryo Transfer is the next big game changer in IVF?
    The window of implantation is the period when the endometrium is receptive or ready for the embryo. ...
    Read More
    Fresh Vs Frozen Embryo Transfer. Which option yields better results?
    Why should couples opt for Frozen embryo transfer (FET) rather than same cycle transfer? How is FET ...
    Read More
    How do Polycystic Ovaries Affect Pregnancy
    Pregnancy is a wonderful aspect of a woman’s life. Nurturing a life in your womb is one of the best ...
    Read More
    Brief Summary of the Indian Laws on ART and Surrogacy
    What do Shah Rukh Khan, Karan Johar, and Tusshar Kapoor have in common? Well, they are all A-listed ...
    Read More
    5 Things You Should Know About Fertility
    If you are reading this article then chances are high that you are trying or planning to have childr ...
    Read More
    5 Tips that will see you through a Successful Surrogacy
    Being pregnant is one of the most wonderful feeling for any woman. However, things are a bit differe ...
    Read More
    Secondary Infertility - 8 Facts to Know
    Secondary fertility is when a woman cannot get pregnant or isn’t capable of carrying a pregnancy to ...
    Read More
    5 Common Myths About IVF Treatment
    Despite the growing popularity of in-vitro fertilization (IVF) as an effective solution for infertil ...
    Read More
    Corrective Surgeries That Are Performed Before IVF
    You may face unexplained fertility issues or have experienced failed IVF cycle. In such cases, often ...
    Read More
    Trying to Conceive - When is Sperm Aspiration Recommended
    Infertility due to male factor is not an uncommon issue. There are several factors that determine th ...
    Read More
    Why IVF Fails
    IVF or in-vitro fertilization is a process in which both egg and sperm are collected from the indivi ...
    Read More
    Role of Hysteroscopy in IVF
    What is Hysteroscopy, why is it so important ? Should we doing Hysteroscopy ...
    Read More
    Sperm Banking
    Information about Sperm Banking, both for Donors and also for those who wil ...
    Read More
    Life Begins at 40 with the Success of IVF
    Most women around the age of 30, whom I have seen do show apprehension regarding that particular age ...
    Read More
    Tubal Patency Testing Under Best IVF Clinic in Kolkata
    Fallopian tubes arise from the womb (uterus) and curve around the ovaries on either side. The ends o ...
    Read More
    Letrozole is Safe under Supervision of Infertility Specialist
    I am writing this article because Letrozole is a very commonly used drug by Infertility Specialists ...
    Read More
    Male infertility Evaluation - Physical examination of Infertile male
    Male fertility examination<br />
    Read More
    5 Reasons why you should opt for Frozen Embryo Transfer during IVF
    There are a lot of practices in ART that help ensure you can give the best chance for an embryo to i ...
    Read More
    Ovarian Drilling
    Women with PCOS (Poly Cystic Ovarian Syndromes) have irregular menstrual periods and do not ovulate ...
    Read More

    Useful Videos

    © 2020 Care Fertility Solutions Pvt Ltd. All Rights Reserved.

    Design By: AV Solutions