Preimplantation Genetic Testing

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Overview

A woman who faces infertility or recurrent pregnancy loss, that woman is chronic to the chromosomal abnormalities in the embryo. The embryos that are created naturally are inferior and more than 70% of women cannot save their pregnancy within five months. In this manner, Preimplantation Genetic Testing speaks directly to the significant statistics and is considered an important development in reproductive medicine.

Everything You Need to Know About Preimplantation Genetic Testing

What is It | Types | Embryo Testing Done | Windbreak | Who Think PGT-M | Accuracy | It is Safe

What is PGT?

Preimplantation Genetic Testing is a procedure that is used for the identification of the genetic abnormalities in the embryos generated within the IVF commonly known as In Vitro Fertilization. PGT is the procedure that is conducted before the embryos are transferred to the uterus. The main aim of the PGT is to reduce the chances of transferring an embryo with a specific genetic condition related to a chromosome abnormality.

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What are the types of PGT?

The PGT can be classified into three main types that include the following:

PGT-A

Preimplantation Genetic Testing for aneuploidy or PGT-A is a type of embryos screening done for chromosome abnormalities. Human embryos should include 23 pairs of chromosomes in an individual cell. One is contributed by the egg present in the woman and the other is contributed by the sperm. If any one of chromosome miss out the pair abnormalities happen by chance. The embryos with aneuploidy have a chance of miscarriage of the IVF cycle. In addition, it can also lead to Down syndrome and Turner Syndrome among newborn babies.

PGT-M

The Preimplantation Genetic Testing Manogenic Disorder is nothing but the increased risk for a specific genetic condition. This is done when any risk is found in the embryos. PGT-M is accurately described as the situation when an individual is affected with a condition or disorder that can be genetically inherited by his or her children. This can happen when the individual woman carries for an X-linked condition or the partner or donor carrying the same autosomal recessive condition.

PGT- SR

Preimplantation Genetic Testing for Structural Rearrangements or PGT-SR is done when a patient or their partner is suffering from their own chromosomes malfunction like translocation or inversion. This type of malfunction has a high rate of risk to further produce embryos with missing or additional pieces of the chromosome. This further leads to the miscarriage of a child or a child born with severe health issues.

How is Embryo Testing done?

All three types of PGT are performed with the help of a biopsy of cells from a blastocyst embryo. The procedure done is commonly known as the ‘embryo biopsy’ and is commonly found in several parts across the United States. The vast amounts of embryos survive the biopsy and there is a small chance that the embryo could detect after the procedure of biopsy.

In this procedure, the patient has to go through the IVF cycle and the retrieval egg procedure. The eggs are monitored in the laboratory of the physicians for 5-6 days before referring them as blastocysts. At this moment some of the sample cells are removed from the embryo and shipped to an outside laboratory for PGT. The removal of the cells from the blastocysts is commonly known as the trophectoderm that gradually forms the placenta.

Furthermore, the PGT-M is utilized to identify the individual single gee disorder, which is performed to understand the typical transfer of an embryo that is unaffected by a specific disorder. The PGT-M is a common procedure and is performed by several patients as well.

12+ Years of Experience as
Sexologist and Infertility Specialist

12+ Years of Experience as
Sexologist and Infertility Specialist

What does PGT-M windbreak for?

To understand the windbreak for PGT-M, people have to undergo an extensive experience that is used to analyze more than several cases. The PGT-M screening is to identify and diagnose the genetic abnormalities that can further lead to several disorders. The screening of the PGT-M includes the following:

  • Cystic Fibrosis
  • Fragile-X syndrome
  • Spinal Muscular Atrophy
  • Huntington’s disease
  • Autosomal dominant polycystic
  • kidney disease
  • Becker’s muscular dystrophy
  • Beta Thalassemia
  • Charcot-Marie-Tooth disease 1A
  • Muscular dystrophy
  • Familiar Amyloid Polyneuropathy
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Multiple endocrine neoplasias, type 2A
  • Myotonic dystrophy (Steinert’s disease)
  • RhD incompatibility
  • Spinal muscular atrophy

 

Who can think of PGT-M?

The several amounts of couples who further have a possibility of passing their disorder to their children can consider using the PGT-M. This kind of inherited condition further includes cystic fibrosis, Tay-Sachs disease, an inherited cancer syndrome, or hundreds of other conditions. In addition, the testing of the DNA including the Genetic Carrier Screening Testing should also be performed by individuals to further understand the accurate amount of mutations involved. This test is considered by individuals as the PGT-M helps to verify the accurate testing. An individual can identify a specific amount of mutation with the help of the PGT-M.

What accuracy is achieved from PGT-M?

The overall PGT is not a 100% accurate method of testing and there are high chances that it can provide a positive or negative result sometimes. A negative result can indicate that an embryo is affected or carries any kind of mutation whereas in reality it might not so it can further result in several problems. Moreover, the PGT tests are 98% accurate and can diagnose genetic defects normally. 3-4% of newborns are affected by some type of defect or genetic condition. Before availing of the PGT-M a person should confirm the results during pregnancy as the PGT-M does not rule the birth defects or conditions related to the genetic disorder.

To be sure a person should consult a fertility genetic counselor as that person can help individuals to know about the limitations, accuracy including the risk and benefits. They also guide you so that you can decide what you should perform PGT-M, PGT-A, or PGT-SR.

Is PGT-M testing safe?

Several types of research have shown that the biopsy is safe and more than 22,000 embryos saw biopsy at every clinic. All three kinds of biopsy have a potential amount of benefits, risks, and limitations and should be performed after performing a huge amount of discussion with the fertility genetic counselor.

Patient Testimonials

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Goral Gondnale

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Being a doctor myself, I was looking for a Gynaecologist who understands my concerns and solves it so easily that my non-doctor husband understands it well. Dr. Ramit is very compassionate and is really good at his skills. I would highly recommend him.

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Pravin Bhanvase

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Doctor is very friendly & attentive. Listens to you gives you plenty of time. one stop solutions for all diagnostics. All the test samples are collected at clinic only, Dr. Ramit Kamte is very compassionate and is really good at his skills. I would highly recommend him.

Google Written Reviews

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5/5

5 Star

Dr. Ramit Raosaheb Kamate

MBBS ,DNB, DGO, FRM (UK)

Dr. Ramit Kamate is a Reproductive Medicine Consultant and Sexologist with experience of 12+ years. He specialises in Sexual Medicine for male and female, Fertility Treatment, Pre and Post Delivery Care, Normal Vaginal Delivery (NVD), Tubectomy/Tubal Ligation, Natural Cycle IVF, MTP.

Dr. Ramit Kamate finished MBBS from B J Medical College, Pune. He pursued Masters’s In Reproductive Medicine from Hamilton University, UK & IBCME Dubai. Completed Fellowship in Cosmetic Gynaecology and Sexual Medicine from USA.

Preimplantation Genetic Testing

by | Oct 26, 2021

Preimplantation Genetic Testing

by | Oct 26, 2021

My Achievements
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MBBS DGO DNB Gold Medalist

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Fellow In Sexual Medicine (USA)

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Fellow In Reproductive Medicine

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Fellow In Cosmetic Gynecology (USA)

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Fellow In Ultrasound And Laparoscopy

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Fellow In Stem Cell Medicine

Patient Guide

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