Genetic Screening

Preimplantation Genetic Screening?
Preimplantation Genetic Screening is a test that carefully examines the chromosomal material of an IVF or in-vitro fertilized egg before the process of implantation can begin. During this time, one or more cells are removed from the embryo to test it for numerical chromosomal abnormalities, also known as aneuploidy. In this method, the screening allows for selective implantation of embryos once the healthcare professionals are aware of which ones have a standard number of chromosomes.
Everything You Need to Know About Genetic Screening
Candidates | Screening tests | Procedure | Risks | Indications | Diagnosis | Cost | Pros & Cons | Alternative methods
Who is recommended to have preimplantation genetic screening?
PGS is not recommended or required for everyone. Women over 37 have a higher chance of carrying eggs with an incorrect number of chromosomes. Thus, the screening process becomes necessary for them if they wish to conceive. Studies suggest that abnormal chromosomes are among the leading reasons women of that age have trouble conceiving. They are also more likely to have a miscarriage or a baby with Down’s Syndrome.
There are other situations when your doctor might recommend PGS. These include –
1) If your family has a history of chromosomal problems
2) If your sperm has a risk of carrying an abnormal number of chromosomes
3) If you have already had some failed miscarriages
4) If you have had failed IVF tries without any explanation
That said, PGS is not a guaranteed way to prevent a miscarriage or have a baby. Moreover, the studies about the screening process helping the groups mentioned above are limited.
Which test do you need?
You need the test for a variety of reasons since it can be used in different circumstances. They include –
1) Testing for monogenic disease – In this case, the specific gene mutation carried by both parents is analyzed. After all, a disorder in a particular gene is due to a mutation in the DNA sequence. It results in diseases like cystic fibrosis or sickle cell anemia. There can also be inherited genetic mutations that might eventually develop into breast or ovarian cancer.
Some of the most common diseases tested via this method include –
- Huntington’s disease
- Sickle Cell Anemia
- Cystic fibrosis
- Muscular dystrophy
- Fragile-X syndrome
- BRCA1 and BRCA2 mutations
- Tay-Sachs disease
2) Testing for chromosome structural arrangement – It analyzes embryos of parents who have chromosomal structural rearrangements like inversion or translocation. If unaddressed, it could result in miscarriages. The most common disorders examined through this process include –
- Reciprocal translocations
- Non-reciprocal translocations
- Robertsonian translocations
Thus, depending on your underlying condition, the PGS process will help you realize possible complications that might arise during childbirth.
How does IVF-PGS work?
In PGS, the biopsy is usually taken at the blastocyst stage, during the fifth or sixth day of embryo development. The embryos are frozen at the clinic, while the biopsies take place in the lab. PGS screens every embryo biopsy and then quantifies the number of chromosomes in each sample.
The result can either show an average number of chromosomes, which means that a chance of healthy pregnancy is relatively high, or it can show an abnormal number of chromosomes, meaning that there might be a miscarriage or other complications.
After the embryos are analyzed, a genetic report is sent to the medical professional. Based on this, along with the embryos’ grading and morphology, the doctor recommends which ones should be used for couples trying to get pregnant.
Risks of PGS
While PGS is a typical process, there are some risks attached, which is the case with all medical procedures. They include –
1) Ovarian hyperstimulation syndrome, which results in multiple pregnancies and might even lead to congenital disabilities unrelated to the genetic test.
2) The risk of biopsies or freezing harming the embryo.
Treatment Options For Infertility

Infertility
Couples at a certain point in time have the desire to conceive. Many studies have found that almost 85% of the couples successfully conceive within one year of trying.

Infertility Assessment
Infertility assessments include various examinations as well as tests to find out the underlying reasons behind infertility.

IVF Treatment
In Vitro Fertilization, or IVF is a kind of fertilization where the eggs combine with sperm for fertilization outside the body.

Azoospermia Treatment
Azoospermia is a condition in men where the sperm count in their ejaculation is non-existent.

Follicular Study
Follicular study or follicular monitoring is the process through which the doctor watches the growth of this follicle from the beginning of the menstrual cycle to the time it is ready to release an egg.

ICSI
Intracytoplasmic Sperm Injection, which is also commonly known as ICSI is one of the common and most successful treatments for male fertility.

IMSI
Intracytoplasmic Sperm Injection is also known as IMSI is another procedure used during the time of IVF.

Stem Cell In IVF
In the whole world, around 8% to 12% of couples tend to get affected by the curse of infertility.

IUI
IUI, medically known as Intrauterine Insemination, is a simple form of fertility treatment.

Ovulation Induction
Ovulation induction is mainly a to-the-point treatment where hormonal pills are used for resuming ovulation.

CASA
Computer-Assisted Sperm Analysis or refers to a system where a complex electronic imaging system is used to visualize the sperm, while advanced software programs help measure the numerous individual parameters of said sperm.
Indications and Conditions of PGS
The main indications for the need for PGS rise when the couples have single-gene disorders or structural aberrations in the chromosomes. On the other hand, there aren’t any fixed conditions for PGS, but it is mostly undertaken by women above 35 or if they’ve had failed IVF processes and miscarriages.
What is a preimplantation genetic diagnosis?
PGD or Preimplantation Genetic Diagnosis provides information about the gene make-up of the cells found in the embryo. In the embryo biopsy, 3-8 cells are removed from the source on day five and then sent to the lab for testing.
During this time, the embryo is frozen so that it can be implanted later. PGD can identify nearly 2000 inherited single-cell disorders and accurately identify affected and unaffected sources, up to 98%.
What is the cost of preimplantation genetic testing?
PGT is interchangeably used for PGS nowadays, but one must remember the screening process doesn’t take place in a vacuum. It is part of the IVF procedure, and thus the cost is relatively high. The average price is nearly $4,000. It includes consultations, lab fees, medications, additional investigations, and follow-ups.
Preimplantation genetic testing Pros and Cons
Before considering PGT, you have to see if the pros outweigh the cons, especially since it is a pretty expensive process overall. The advantages of PGT are –
1) Reduced risk of having a child with a chromosomal abnormality.
2) Women with previously unexplained miscarriages might undertake PGT to prevent the situation from happening in the future.
3) It helps settle the difficult decision of whether to continue or terminate the pregnancy if the fetus has an abnormal chromosomal count.
4) For women above 36, the process reduces the risks of miscarriage and the number of transferred embryos required for pregnancy.
The downsides of PGT are –
1) It doesn’t increase the chances of having a baby
2) The cost is quite expensive
Alternatives to IVF-PGS
Some of the alternative methods which are likely to work better include –
1) Chronic villus sampling – CVS is a biopsy of the placenta 10-12 weeks into the pregnancy. If any anomaly is detected, the couple can consider termination.
2) Amniocentesis – The process is carried out 16-18 weeks into the pregnancy, and the amniotic fluid is tested for anomalies. Again, termination is an option.
3) Ultrasound and Blood Tests – While these two combined might work, the above processes have a greater accuracy rate.
4) In case of a high risk of inherited diseases, one might consider donor eggs or sperms.
Thus PGS is an additional test that might be carried out. That said, if couples want to undergo the procedure, they should consult the medical professionals beforehand.
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Blogs

How accurate is preimplantation genetic screening?
When one is planning for an IVF treatment, it is very important to get Genetic Testing completed. The trying couples may have some medical conditions that would affect their children later. Not to mention, they may pass on their condition to their offspring, as some disorders are hereditary in nature. And IVF treatment is performed when regular conception is not working. Thus, Genetic Testing would also ensure that one has a safe pregnancy through IVF.

Is PGS necessary in IVF?
When one is planning for an IVF treatment, it is very important to get Genetic Testing completed. The trying couples may have some medical conditions that would affect their children later. Not to mention, they may pass on their condition to their offspring, as some disorders are hereditary in nature. And IVF treatment is performed when regular conception is not working. Thus, Genetic Testing would also ensure that one has a safe pregnancy through IVF.
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About Authors

Dr. Jay Mehta
Fertility and IVF Specialist
Dr. Jay Mehta is the Scientific Director of Shree IVF Clinic. He is a well-known Fertility and IVF Specialist and also among few doctors in the country who specializes in Embryology and Andrology.