PGT-M | Plan Your IVF

Introduction

Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) marks a pioneering frontier in assisted reproductive technologies, ushering in a new era of precision and insight for couples facing the prospect of passing on specific genetic disorders to their offspring. Within the landscape of in vitro fertilization (IVF), PGT-M provides an advanced genetic screening method that allows for the identification of embryos carrying specific monogenic mutations responsible for hereditary conditions. This groundbreaking technique empowers individuals and couples who are carriers of genetic disorders to make informed decisions about their reproductive journey, offering the potential to select embryos free from the targeted genetic anomaly.

The Process of PGT-M:

The process of Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) involves a detailed and sophisticated series of steps aimed at identifying embryos free from specific genetic mutations responsible for hereditary disorders.

Genetic Counseling:

Before embarking on PGT-M, individuals or couples undergo genetic counseling to understand the specific monogenic disorder, its inheritance pattern, and the implications for their offspring.

Ovarian Stimulation and Egg Retrieval:

The process begins with ovarian stimulation through fertility medications to induce the development of multiple eggs. Subsequently, a minor surgical procedure retrieves mature eggs from the ovaries.

Fertilization and Embryo Culturing:

The retrieved eggs are fertilized with sperm in the laboratory, and the resulting embryos are cultured for several days, typically to the blastocyst stage.

Blastocyst Biopsy:

At the blastocyst stage, a few cells from the trophectoderm (the outer layer of the embryo) are carefully extracted through a biopsy procedure. This biopsy does not harm the inner cell mass, which develops into the fetus.

Cell Sample Processing:

The cells obtained from the biopsy are processed to extract the genetic material, typically DNA, which carries information about the presence or absence of the targeted monogenic mutation.

Genetic Analysis:

The extracted genetic material undergoes advanced genetic analysis techniques, such as polymerase chain reaction (PCR) or next-generation sequencing (NGS). This analysis focuses on identifying the specific genetic mutation associated with the targeted monogenic disorder.

Mutation Detection and Analysis:

The genetic analysis aims to detect whether each embryo carries the targeted genetic mutation. This process allows for the classification of embryos as either unaffected (without the mutation), carriers (carrying one copy of the mutation), or affected (carrying two copies of the mutation).

Selection of Genetically Normal Embryos:

Based on the results of the genetic analysis, embryos that are unaffected or carriers (heterozygous) are typically considered for transfer, as they are less likely to manifest the symptoms associated with the monogenic disorder.

Cryopreservation (Optional):

In cases where additional embryos are deemed suitable for future use, they can be cryopreserved for subsequent IVF cycles, reducing the need for additional ovarian stimulation and egg retrieval.

Embryo Transfer:

The selected unaffected or carrier embryos are transferred into the uterus of the intended mother or a gestational carrier to establish a pregnancy.

The Process of PGT-M:

- Genetic Counseling: Before embarking on PGT-M, individuals or couples undergo genetic counseling to understand the specific monogenic disorder, its inheritance pattern, and the implications for their offspring.

- Ovarian Stimulation and Egg Retrieval: The process begins with ovarian stimulation through fertility medications to induce the development of multiple eggs. Subsequently, a minor surgical procedure retrieves mature eggs from the ovaries.

- Fertilization and Embryo Culturing: The retrieved eggs are fertilized with sperm in the laboratory, and the resulting embryos are cultured for several days, typically to the blastocyst stage.

- Blastocyst Biopsy: At the blastocyst stage, a few cells from the trophectoderm (the outer layer of the embryo) are carefully extracted through a biopsy procedure. This biopsy does not harm the inner cell mass, which develops into the fetus.

- Cell Sample Processing: The cells obtained from the biopsy are processed to extract the genetic material, typically DNA, which carries information about the presence or absence of the targeted monogenic mutation.

- Genetic Analysis: The extracted genetic material undergoes advanced genetic analysis techniques, such as polymerase chain reaction (PCR) or next-generation sequencing (NGS). This analysis focuses on identifying the specific genetic mutation associated with the targeted monogenic disorder.

- Mutation Detection and Analysis: The genetic analysis aims to detect whether each embryo carries the targeted genetic mutation. This process allows for the classification of embryos as either unaffected (without the mutation), carriers (carrying one copy of the mutation), or affected (carrying two copies of the mutation).

- Selection of Genetically Normal Embryos: Based on the results of the genetic analysis, embryos that are unaffected or carriers (heterozygous) are typically considered for transfer, as they are less likely to manifest the symptoms associated with the monogenic disorder.

- Cryopreservation (Optional): In cases where additional embryos are deemed suitable for future use, they can be cryopreserved for subsequent IVF cycles, reducing the need for additional ovarian stimulation and egg retrieval.

Embryo Transfer: The selected unaffected or carrier embryos are transferred into the uterus of the intended mother or a gestational carrier to establish a pregnancy.

Benefits of PGT-M:

Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) offers a multitude of benefits, providing individuals and couples carrying specific genetic mutations with the opportunity to make informed decisions about their reproductive journey. Here are detailed insights into the benefits of PGT-M:

Risk Mitigation: PGT-M enables the identification and selection of embryos that are free from specific monogenic mutations, effectively mitigating the risk of passing on hereditary disorders to the offspring.
Prevention of Genetic Disorders: By identifying embryos unaffected by the targeted genetic mutation, PGT-M significantly reduces the likelihood of conceiving a child with the associated hereditary disorder, promoting the birth of healthy offspring.
Informed Family Planning: PGT-M empowers individuals and couples with the knowledge to make informed decisions about their family planning, offering options to avoid the transmission of specific genetic conditions to future generations.
Increased Pregnancy Success Rates: The careful selection of embryos unaffected by the targeted monogenic mutation enhances the overall success rates of in vitro fertilization (IVF) procedures, leading to a higher likelihood of achieving a healthy pregnancy.

Reduced Emotional Burden: PGT-M reduces the emotional burden associated with the uncertainty of conceiving a child with a hereditary disorder. It provides reassurance and peace of mind during the reproductive journey.
Avoidance of Selective Pregnancy Termination: PGT-M minimizes the need for selective pregnancy termination by reducing the chances of conceiving embryos with the targeted genetic mutation, aligning with ethical considerations and minimizing potential emotional distress.

Enhanced Control over Genetic Heritage: PGT-M offers individuals and couples a level of control over their genetic heritage, allowing them to selectively transfer embryos free from specific genetic mutations and shape the genetic makeup of their family.
Reduced Financial and Emotional Burden of Multiple IVF Cycles: By selecting embryos free from the targeted monogenic mutation in the initial IVF cycle, PGT-M minimizes the need for multiple cycles, reducing both the financial and emotional burdens associated with repeated treatments.
Option for Cryopreservation of Unaffected Embryos: PGT-M provides the option to cryopreserve unaffected embryos for future use, offering individuals and couples the flexibility to plan for additional pregnancies without the requirement of repeated ovarian stimulation and egg retrieval.
Ethical Considerations: PGT-M aligns with ethical considerations in reproductive medicine by enabling the prevention of the transmission of specific genetic disorders, emphasizing the importance of promoting the birth of healthy offspring.
Psychological Well-being: The knowledge gained from PGT-M contributes to the psychological well-being of individuals and couples, fostering a sense of empowerment, control, and confidence throughout the reproductive journey.

Conclusion:

In conclusion, Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) emerges as a transformative beacon in the realm of assisted reproductive technologies, offering individuals and couples a nuanced and empowering approach to family planning. This advanced genetic screening method not only mitigates the risk of passing on hereditary disorders but also provides a profound sense of control over one’s genetic legacy. By enabling the selection of embryos free from specific genetic mutations, PGT-M fosters informed family planning, reduces emotional burdens, and enhances the likelihood of successful pregnancies. Beyond its clinical implications, PGT-M aligns with ethical considerations, emphasizing the importance of promoting the birth of healthy offspring. As a cutting-edge tool at the intersection of science and reproductive choices, PGT-M stands as a testament to the possibilities of shaping a genetically informed and healthier future for families.

FAQ

Who should think about PGT-M?

PGT-M is suggested for couples carrying certain single-gene disorders or having a known family history of genetic diseases. It’s especially useful for those wanting to lower the chance of passing on these disorders to their children and aiming for a healthy pregnancy and child.

How accurate is PGT-M in finding specific genetic mutations?

PGT-M is very accurate in spotting specific genetic mutations. The techniques it uses, like PCR or next-generation sequencing, allow for exact identification of embryos with the targeted genetic mutations. It’s crucial to remember that PGT-M is specific to the tested genetic mutation and doesn’t screen for all potential genetic disorders.

Does PGT-M ensure a healthy baby?

While PGT-M greatly reduces the risk of passing on certain genetic disorders, it doesn’t guarantee a completely healthy baby. PGT-M focuses on the particular genetic mutation tested but doesn’t check for all possible genetic variations or other health issues. It’s important to talk about the limits and possibilities with a genetic counselor or fertility specialist.