Genetics in the Infertility Treatment
Some causes of infertility, recurrent pregnancy loss, or repeated failed IVF cycles are not detectable on ultrasound and cannot be identified by routine laboratory investigations. The answer may lie within the genome.
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We take a holistic approach to treatment. Because every detail shapes the future. Only when we engage with your complete history can we help guide it towards a successful conclusion.
Genetic testing for many couples represents far more than another diagnostic investigation. It frequently provides answers after a prolonged period of uncertainty, repeated setbacks, or unanswered questions as to why a pregnancy cannot be sustained. It enables us to better understand your situation and select a therapeutic strategy that makes both medical and personal sense.
Why Genetics Plays a Pivotal Role in the Management of Infertility
Genetics is one of the critical factors that can influence the capacity to conceive, the course of pregnancy and the healthy development of the child. Certain genetic variants may be associated with reproductive dysfunction, others may increase the risk of spontaneous miscarriage, failed embryo implantation or transmission of a serious hereditary disorder to the offspring.
Many couples have no known family history of genetic disease, and yet both partners may be carriers of an identical gene mutation that poses a risk to their prospective child. This is precisely why genetic testing carries clinical value even in couples who otherwise consider themselves to be in good health.
Even apparently healthy partners may be silent carriers of genetic variants that produce no overt phenotype.
Our Broader Approach to Genetic Assessment
Identifying the underlying aetiology
Genetic investigation can help elucidate recurrent miscarriages, failed embryo transfers and longstanding unexplained infertility.
ReproScreen: genetické vyšetření před početím
ReproScreen is a preconception genetic evaluation of the couple. It assists in identifying occult genetic risks that may affect fertility, the course of pregnancy and the health of the prospective child.
For some couples it represents prevention of further reproductive failure; for others, a greater degree of certainty at the outset.
The more comprehensive the information available in a timely manner, the more precisely the next steps can be defined.
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Gene mutations associated with hereditary disorders
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Genetic causes of female or male factor infertility
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High-risk mutation combinations in both partners
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Certain genetic factors implicated in recurrent pregnancy loss
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Information critical for treatment planning
ReproScreen Panels Available
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Basic preconception genetic panel
For couples with fertility disorders and patients undergoing IVF.
Analyses hundreds of genetic variants that may affect fertility and pregnancy outcomes.Helps address:
- causative factors underlying infertility
- predicted response to controlled ovarian stimulation
- miscarriage risk stratification
- presence of selected hereditary conditions
Can detect, for example:
cystic fibrosis, spinal muscular atrophy, fragile X syndrome or genetically determined sensorineural hearing loss.
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Extended preconception genetic panel
For couples seeking maximum reduction of the risk of transmitting a genetic disorder. Covers more than 100 of the most prevalent hereditary conditions.
Additionally detects:
- inborn errors of metabolism
- disorders of vision and hearing
- selected musculoskeletal and dermatological conditions
- thrombophilic mutations
ReproScreen enables risk identification prior to conception — facilitating more informed planning of subsequent steps.
ReproScreen pomáhá odhalit rizika ještě před početím — a tím lépe plánovat další kroky.
Managing an Identified Genetic Risk
If a mutation in the same gene is confirmed in both partners, there may be a significant risk of that disorder manifesting in their shared child. Such a result does not, however, represent the end of hope or the end of the road.
It is precisely in these circumstances that the next step becomes of decisive importance — preimplantation genetic testing of embryos prior to transfer, i.e. PGT-M. This enables embryos to be tested before uterine transfer and those not carrying the implicated mutation to be selected for transfer.
PGT: Preimplantation Genetic Testing in the IVF Setting
PGT is the genetic evaluation of embryos prior to uterine transfer. It assists in selecting the embryo with the greatest probability of normal development, successful implantation and a healthy ongoing pregnancy.
PGT is recommended in particular when a known genetic risk has already been identified in the couple, or when there is a history of recurrent IVF failures potentially attributable to a chromosomal or genetic anomaly in the embryo.
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PGT-A: Preimplantation Genetic Testing for Aneuploidies
An investigation focussed on assessing the correct chromosomal complement of the embryo. Aneuploidy is a leading cause of implantation failure and early pregnancy loss.
Indicated in particular in the following scenarios:
- recurrent failed IVF cycles,
- recurrent pregnancy loss,
- women of advanced reproductive age,
- recurrent implantation failure.
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PGT-SR: Preimplantation Genetic Testing for Structural Chromosomal Rearrangements
Indicated for couples in whom a structural chromosomal rearrangement — for example, a translocation — is suspected or confirmed.
Indicated in particular in the following scenarios:
- recurrent pregnancy loss,
- a known chromosomal rearrangement in either partner,
- elevated risk of serious congenital anomalies.
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PGT-M: Preimplantation Genetic Testing for Monogenic Disorders
Used for the targeted identification of a specific hereditary condition within embryos. Appropriate for couples in whom a known risk of transmitting a serious genetic disease has been established.
Indicated in particular when:
- both partners carry a mutation in the same gene,
- a hereditary disorder is known within the family,
- the objective is to minimise the risk of transmitting a specific condition to the child.
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Recurrent pregnancy loss
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Failed IVF cycles
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Recurrent implantation failure
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Advanced maternal age
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Known familial genetic burden
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Risk of transmitting a specific hereditary disease
PGT increases the probability of successful pregnancy and the birth of a healthy child by facilitating the selection of embryos with the highest reproductive potential.
MUDr. Martin Schwarz
MUDr. Martin Schwarz, Ph.D., MBA is an experienced clinical geneticist who serves as Head of the PRENET Genetic Centre and simultaneously as a specialist in reproductive genetics at the Europe IVF Clinic.
He holds specialist certification in medical genetics and has extensive experience in prenatal diagnostics and reproductive genetics. His clinical practice focuses on genetic counselling for couples with infertility, prospective parents and gamete donors.
He employs cutting-edge genetic testing methodologies, including whole exome sequencing and other advanced specialised techniques. He also has expertise in oncogenetics and the diagnosis of hereditary disorders.
At Europe IVF he contributes to the development of a comprehensive genetic care pathway, which is fundamental to effective, individualised reproductive treatment.
Frequently Asked Questions
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What is PGT and what is it used for?
PGT (preimplantation genetic testing) is the genetic evaluation of embryos prior to uterine transfer. It assists in identifying selected genetic and chromosomal abnormalities and enables the selection of embryos with the greatest probability of normal development and a successful pregnancy outcome.
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Does PGT guarantee the birth of a healthy child?
No. PGT can significantly reduce the risk of certain known genetic and chromosomal abnormalities, but cannot detect every possible condition or congenital malformation. Even with a normal result, an absolute guarantee of a healthy live birth cannot therefore be given.
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What is the distinction between PGT-A, PGT-SR and PGT-M?
PGT-A focusses on assessment of the correct chromosomal number within the embryo.
PGT-SR is used to detect structural chromosomal changes, such as translocations.
PGT-M is designed for couples at risk of transmitting a specific hereditary condition.Each modality addresses a different clinical scenario and is recommended based on the couple's individual history and genetic risk profile.
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