For decades, reproductive medicine focused primarily on overcoming infertility and achieving pregnancy. Advancing modern technologies have significantly expanded this objective. Today, physicians possess growing capabilities not only to help people have children but also to proactively assess specific genetic risks and increase the chances of delivering a healthy baby.
Reproductive genetics plays a crucial role in this shift. This field integrates breakthroughs in genetics, embryology, and reproductive medicine, allowing us to obtain vital information regarding the future child’s health before pregnancy even begins.
Speaking with Medscriptum, Nana Janelidze, reproductive specialist and Head of the Reproductive Medicine Department at Jordania Medical Center, explains that modern reproductive medicine and genetics function as practically inseparable disciplines. She notes that current practices prioritize not just achieving pregnancy, but actively anticipating genetic risks related to the future child’s health.
What Exactly Does Reproductive Genetics Entail?
Every person inherits half of their genetic information from their mother and half from their father. This code dictates multiple aspects of the organism’s development and functioning. Moreover, the human genome harbors potential alterations that elevate the risk of developing specific hereditary diseases.
Some genetic variants show no effect on the parent’s health, yet they can pass to the next generation. For instance, an individual might carry a recessive genetic disorder while exhibiting zero symptoms. If both parents carry the mutation for the same autosomal-recessive disease, each pregnancy carries a 25% probability of passing the condition to the child.
Reproductive genetics aims precisely to identify such risks. Through genetic counseling and appropriate testing, specialists evaluate the heightened likelihood of transmitting a specific hereditary condition.
Families with a history of hereditary diseases find this especially vital, though genetic screening holds relevance for others as well.
How Do Specialists Conduct Embryo Genetic Testing?
Preimplantation genetic testing (PGT) represents a major breakthrough in reproductive genetics. Clinics utilize this method during in vitro fertilization (IVF) to evaluate specific genetic characteristics of the embryo before transferring it into the uterus.
During IVF, fertilization of the egg and sperm occurs in a laboratory environment. The resulting embryo develops over several days, after which professionals extract a small number of cells for genetic analysis.
Preimplantation testing encompasses several main directions:
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PGT-A assesses numerical changes in the embryo’s chromosomes. Typically, a human cell contains 46 chromosomes. Some embryos present a different chromosomal count, which can hinder embryo development, lead to pregnancy loss, or cause specific chromosomal conditions.
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PGT-M detects specific monogenic diseases when a family carries a known genetic risk. Specialists run this test for conditions like cystic fibrosis or other inherited diseases.
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PGT-SR evaluates risks associated with structural chromosomal alterations, particularly when one parent carries a balanced chromosomal translocation.
Crucially, these tests serve different purposes, and patients rarely require every type of testing.
Nana Janelidze emphasizes that the individual patient’s condition dictates the choice of genetic testing. Jordania Medical Center implements a multidisciplinary approach for this purpose. Reproductologists, geneticists, and embryologists collaborate to assess the patient’s condition and potential genetic risks.
Janelidze highlights that prescribing identical genetic tests for every couple proves counterproductive. Specialists must tailor testing to the specific medical history and identified risks.
Does Genetic Testing Guarantee a Healthy Child?
Advancing reproductive genetics raises a critical question: if we genetically screen an embryo, can we guarantee the birth of a completely healthy child?
Genetic testing plays a vital role in estimating this probability, yet it offers no absolute guarantee.
The tests evaluate specific mutations and risks rather than the individual’s future health in its entirety. Thousands of diseases and conditions develop under the influence of both genetic and environmental factors.
Furthermore, embryo genetic analysis relies on a tiny cell sample. Occasionally, different cells within the same embryo contain varied chromosomal compositions. This phenomenon, called mosaicism, complicates the interpretation of test results.
Therefore, transferring a genetically tested embryo guarantees neither a successful pregnancy nor the birth of a healthy child.
Nana Janelidze draws attention to this reality as well. She explains that a positive chromosomal analysis result does not automatically secure a pregnancy. Beyond genetic data, morphological evaluation and embryo developmental patterns carry significant weight. Consequently, specialists must analyze the results of various studies collectively.
Importantly, utilizing PGT-A does not improve the live birth rate for every patient. Its potential benefit depends on specific clinical circumstances, and in certain cases, testing might even reduce the number of suitable embryos.
How Do Teams Select the Embryo?
Modern reproductive medicine bases embryo selection on multiple parameters, not just a single test result.
Embryologists monitor embryo development, cell division processes, and morphological characteristics. Advanced incubators and time-lapse visual monitoring systems enable the assessment of various developmental stages without frequently removing the embryo from the incubator.
Some systems leverage artificial intelligence. Algorithms analyze images of embryo development and assist specialists in their evaluations.
According to Janelidze, integrating artificial intelligence represents a major developmental direction for reproductive medicine, particularly during embryo assessment.
When making decisions, doctors factor in the patient’s age, medical history, previous treatment outcomes, embryo development data, and, when necessary, genetic test results.
This complexity necessitates tight collaboration among reproductologists, embryologists, and geneticists in modern clinical practice.
What Does the Future Hold for Reproductive Genetics?
Genetic analysis technologies constantly grow more precise and informative. Scientists develop methods aiming to better assess embryo development, study genetic mutations in greater detail, and improve the prediction of various risks.
Simultaneously, these new capabilities raise ethical questions. Where lies the boundary between preventing a severe hereditary disease and selecting desirable genetic traits for a future child? How reliable do predictions of complex, polygenic diseases remain? And how do we ensure that new technologies deliver tangible benefits to patients?
Seeking answers to these questions forms an integral part of reproductive genetics’ evolution.
Modern medicine cannot yet fully predict a future child’s health. Yet, it already possesses the power to detect specific genetic risks, aid in informed decision-making, and reduce the probability of transmitting severe hereditary diseases in certain families.
This encapsulates the true significance of reproductive genetics: safeguarding the next generation’s health increasingly begins long before birth, and sometimes even before pregnancy starts.
