Saturday, July 11, 2015

PGD in Testing Genetic Diseases- The 360° View

Genetic diseases such as thalassemia, DMD, hemophilia and sickle cell anemia can be devastating and when a child is diagnosed with any of these; it represents a major family tragedy. While parents will spend a lot of time, love and energy in ensuring that this child gets the best possible medical care, the niggling worry at the back of their mind always is about the possibility of the next child having the same genetic disease.

In the past, we used PND (prenatal diagnosis) to determine if the fetus was normal or not.  However, if the fetus was abnormal, parents would be compelled to terminate the pregnancy- an idea that is quite abhorrent to many couples. Today, things have changed- thanks to advances in IVF and genetics, PGD ( Preimplantation Genetic Diagnosis) is a very valuable technique that can help prevent genetic diseases.

A Complicated Process

It can be quite a complicated process and a lot of fog surrounds the details. This is true for a number of reasons.

PGD requires a combination of 2 complex procedures and 2 specialty teams – the IVF lab and the genetic specialists
In most cases, the IVF doctor may not have a strong understanding about the required genetic testing; while the genetics lab may not understand much about the IVF process. This means that often the right hand does not know what the left hand is doing, which adds to the stress levels for the poor patient
Most patients find the genetic terms used to be quite intimidating. These can be complex and it can take time to understand them, because there are so many new words you need to understand

The Tests Before an IVF/PGD cycle

If you have a child with a well-defined genetic disease, please send me an email. I need to know your exact genetic diagnosis, and the tests which were performed to establish this. It is important that all reports (of all family members) should be made available to us and sent at one time, in order to avoid misunderstandings and confusion
You then need to send your blood to our genetic lab, this is where PGD testing probes are created for you. This is called “informative testing” and needs to be done before the PGD cycle can start

I also need the results of ALL the following simple medical tests to check your fertility before starting an IVF /PGD cycle:

Semen analysis for your husband (to check his sperm count and motility)
Blood tests for you for the following reproductive hormones – FSH (follicle-stimulating hormone),LH (luteinizing hormone), PRL(prolactin), AMH(anti-Mullerian hormone) and TSH ( thyroid stimulating hormone) on Day 3 of your cycle, ( to check the quality of your eggs). Do this from a reliable lab such as SRL (
A vaginal ultrasound scan on Day 10 or 11 which should check for the following:

Ovarian volume
Antral follicle count
Uterus morphology
Endometrial thickness and texture

Once your fertility and genetic results are back, we can start your IVF / PGD treatment cycle for you

The IVF/PGD treatment cycle

IVF/PGD treatment starts from Day 1 (the day the bleeding starts) of your cycle
At this time, we downregulate you by starting you on Inj Lupride GnRH analog mfr by Sun Pharma), 0.2 ml sc daily
On Day 3, you need to do an Ultrasound scan to confirm there is no ovarian cyst, after which we start your superovulation with 4 ampoules of HMG (Menogon) daily. 4 ampoules in 300 IU of HMG daily. You need to dissolve 4 vials of the powder in 1 solvent and take it IM

You can learn how to take your injections at

The dose of HMG will Depend upon your ovarian morphology and your antral follicle count
We do the next scan on Day 10, after which you would have to be in Bombay for about 10 days. Your husband is needed on Day 14-Day 16 (the day of the egg pickup)
The entire treatment is performed at our clinic, which means you never have to go elsewhere
The Lupride and Menogon injections will continue on a daily basis
The scans will be performed every alternate day, until the follicles are mature. This is usually Day 14- Day 16 for most patients
At this time, an HCG injection will be given, and eggs retrieved 36 hours after this
The embryo biopsy is done
The  blastomeres sent for genetic testing, and all the embryos are frozen

You can print out an IVF calendar (of a typical IVF cycle) at

The Day 5 embryos (blastocysts) are biopsied and the blastomeres are sent to the genetic lab for genetic testing using the latest technique called NGS ( next generation sequencing)
All your embryos are then frozen
When the results are back (this can take upto 10 days), we call you back in the next cycle, thaw the normal embryos and then transfer them into you

We understand this is a complex, time consuming process which can be quite confusing. Please rest assured that we are here to hold your hand through this journey and will do our best to give you a healthy baby.

Need more information? Please send me your medical details by filling in the form at so that I can guide you better!

No comments:

Post a Comment

Get A Free IVF Second Opinion

Dr Malpani would be happy to provide a second opinion on your problem.

Consult Now!