"We Fight for Destiny, Not Protocol"

Expert Profile

Zhanna Ivanovna Glinkina — Doctor of Biological Sciences, Associate Professor of Fundamental Disciplines at MGIMO-Med, CEO of High-Tech Genetics Center, leading expert at Gemotest Genetic Research Center, member of the European Society of Human Reproduction and Embryology.

Education and Qualifications

1999 — Moscow State Academy of Fine Chemical Technology named after M.V. Lomonosov.

Defended 2 dissertations on reproductive genetics:

2003 — "Medical-genetic aspects of examining infertile couples included in IVF and embryo transfer, ICSI programs."

2008 — "Diagnosis and prevention of congenital and hereditary diseases in assisted reproductive technologies."

Advanced Training

2002 — Course on preimplantation diagnostics at Dutch-speaking Free University of Brussels.

2012 — Internship in preimplantation diagnostics using CGH (comparative genomic hybridization) at University College (Centre PG&D).

Professional Experience

Over 37 years in genetics.

1989-2012 — Federal State Budgetary Institution "Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov."

2012-2015 — Home Clinic LLC.

2015-2019 — PMC "Mother and Child."

2019-present — High-Tech Genetics Genetic Research Center.

Professional Skills and Research Interests

Conducting preimplantation diagnostics using FISH (fluorescence in situ hybridization), CGH (comparative genomic hybridization), and NGS (Next-Generation Sequencing) methods. Sperm aneuploidy testing, sperm DNA fragmentation testing, blood lymphocyte chromosome aneuploidy testing using FISH and CGH, pregnancy loss material testing using FISH, CGH, and NGS.

Career and responsibility

— How do you formulate your zone of professional responsibility: are you primarily a scientist, practicing geneticist, or laboratory technology manager?

— More as a synthesis of scientist, practicing geneticist, and technology manager, where fundamental biology meets clinical care for couples. My entry point into reproductive genetics is a deep understanding of genetic mechanisms of infertility and reproductive disorders, confirmed by two dissertations on this topic.

— How did PGT history begin in Russia? Were you among the pioneers of this technology?

— PGT in Russia emerged in the late '90s, and I was fortunate to be among the pioneers who implemented this technology in our country at the Research Center of Obstetrics, Gynecology and Perinatology named after V.I. Kulakov. Launch with the FISH method became possible after acquiring a specialized fluorescence microscope, allowing genetic study of three-day embryos obtained through IVF. At that time, we could visualize three to five chromosomes. When we acquired a special laser for zona pellucida hatching for the IVF lab, embryo cell biopsy became much easier.

I essentially performed the country's first such analyses, though with scientific modesty I say "one of the first" — two weeks later other specialists joined. Colleagues from St. Petersburg announced the service earlier, but sent biomaterial abroad, while we provided the complete research cycle — reproductive specialists still value this priority. It should be noted that the first child after PGT was born in St. Petersburg after all; colleagues were luckier. IVF pregnancy success depends on many other factors.

My professional path in genetics spans 37 years: started with general medical genetics, transitioned to the reproductive sphere in the late '90s after the center was equipped with new equipment. In 2024, widespread PGT clinical practice celebrated its 25th anniversary — the Russian Association for Human Reproduction (RAHR) awarded me a commemorative plaque for contributions to PGT development in Russia.

— What portion of your work is interpretation and physician training?

— This is the main part of my work. I participated in creating and training personnel at First Genetics, Medical Genomics, Gemotest, Mother and Child laboratories, and other clinics. Not all could function autonomously without a key specialist — after my departure many faced difficulties. However, several laboratories successfully mastered and developed acquired competencies.

Implementation always began with my immersion in the team: I trained personnel, built processes, and directly conducted analyses. Success depended not only on technical skills but also on deep understanding of genetic method essence, overall technology, and professional ethics, not purely commercial motives.

To this day, as Russia's recognized leading specialist, I defend principles of honesty: PGT is a medical service with clear indications: karyotype changes, monogenic diseases, age-related risks, or recurrent pregnancy loss related to genetic causes, not a mass market product for profit. I fight against "overuse" to preserve trust in the method — the human factor and ethical approach remain key to quality in our industry.

I still derive genuine pleasure from independently interpreting sequencing data — this remains one of the most interesting work aspects. In PGT, the morally hardest moment is when you must tell patients that among obtained embryos there is not a single genetically healthy one for transfer. At the same time, this diagnostics allows avoiding much heavier scenarios in their reproductive history — failed transfers, miscarriages, and birth of a child with severe pathology that could have occurred without genetic embryo testing.

What is Preimplantation Diagnostics

— Explain the technology's essence.

— PGT is technology allowing analysis of the genetic status of a specific embryo obtained through ART and still outside the mother's body. Various diagnostic methods (FISH, NGS, etc.) are used for genetic embryo testing depending on a specific couple's medical indications.

After embryo cell genetic testing, only embryos healthy for the studied pathology are transferred to the woman. Unfortunately, we cannot exclude all pathology in the embryo. Thus, PGT is the earliest prenatal prevention of affected child birth.

For PGT, cell biopsy is first performed. Cell collection, depending on diagnosis and laboratory capabilities, occurs on days 3-5. More often it's a five-day embryo biopsy. 5-10 trophectoderm cells are collected for analysis. At this developmental stage, the embryo consists of inner cell mass (from which the baby develops) and trophectoderm cells, which later form chorionic and placental cells.

The embryo is cryopreserved (frozen) until PGT results are received, and biopsied cells are sent to the laboratory.

— Tell us more about PGT using the NGS method. How does it differ from other PGT methods?

— The NGS method principle differs from other PGT methods. This method is based on nucleic acid sequence determination, allowing simultaneous analysis of all 24 chromosomes. NGS more clearly indicates aneuploidies (chromosome number abnormalities), as well as deletions/duplications, mosaicism, allowing selection of more suitable embryos for transfer. Currently this method is increasingly finding wide medical practice application, and continues developing with software.

Today, one NGS platform-based reagent kit of Chinese manufacture allows within one embryo analysis to simultaneously assess numerical abnormalities of all 24 chromosomes, detect a wide spectrum of monogenic diseases, and conduct kinship tests between embryo and parents. The same approach allows additional panel customization for specific clinical tasks, expanding analyzed parameter lists without technology change. Numerous studies have shown that NGS in PGT context has substantial advantages over earlier methods — from high accuracy and sensitivity to comprehensive analysis capability in one run.

Who and When is PGT Indicated For

— Which patients are indicated for such testing?

— PGT is recommended for certain patient groups at high risk of having children with genetic disorders: couples where the family has a genetically affected child with monogenic or chromosomal abnormalities. PGT procedure is necessary for recurrent pregnancy loss where genetic cause was identified, two or more unsuccessful IVF attempts, and also recommended for older reproductive age couples (usually women over 35-37 years), where offspring aneuploidy risk increases. This approach minimizes implantation failures and reduces chromosomal pathology probability in children.

— What genetic changes are most commonly encountered?

— Most commonly in reproductive genetics, chromosomal karyotype abnormalities are encountered — this is the most common genetic change group in our patients. To date, several hundred variants of such anomalies are described, including numerical abnormalities (aneuploidies, when chromosomes are either more or fewer than normal, as in trisomies 21, 18, 13 or monosomy X) and structural rearrangements — translocations, deletions, inversions, duplications of individual chromosome segments.

In chromosomal rearrangement carriers, unbalanced genotypes very often form during gamete formation, and this chromosomal imbalance is then transmitted to embryos, increasing pregnancy loss risk and affected child birth with severe pathology. In couples with reproductive dysfunction, karyotype anomalies are indeed detected significantly more often than in the general population. Maternal age is another key factor: after 35 years, aneuploidy risk in her oocytes begins noticeably rising, and in the 35-40 year interval, exponential jump in chromosomal anomaly frequency occurs, which must be considered when planning IVF programs in older reproductive age women.

— In what cases and why is PGT recommended to couples who have no pregnancy problems?

— Chromosomal karyotype changes in patients, monogenic diseases or gene carriership leading to them, often don't prevent conception, but sharply increase pregnancy loss probability, developmental defects, affected child birth. Karyotype is the body's genetic program, chromosomal set determining fundamental developmental processes of all organs and systems. Serious program failure leads to defects: the more severe the defect, the earlier the embryo dies — at earliest terms or later.

Nature attempts "self-correction" through spontaneous miscarriages or non-developing pregnancies. After one miscarriage with detected embryo and parent karyotype anomaly, optimally transition immediately to IVF with PGT: we select genetically normal (euploid) embryo. The woman is reproductively healthy — without endometrial, uterine pathologies or hormonal background issues, so implantation proceeds more successfully than in infertile patients.

In women with genetic karyotype changes, each "natural pregnancy attempt" often ends in miscarriage, meaning — uterine cavity curettage. A series of such interventions is dangerous not only for inflammation but also endometrial thinning and adhesion formation, worsening its implantation capacity and increasing secondary infertility risk. Time passes simultaneously: with age, ovarian reserve decreases in women and aneuploid (chromosomally abnormal) oocyte and embryo proportion grows.

When such a patient still comes to ART clinic, she's already older, fewer oocytes can be obtained, and for PGT it's important to have more embryos so there's choice of genetically favorable ones for transfer. If a couple with karyotype changes immediately goes into IVF with PGT program, negative impact on woman's body is usually less than with multiple miscarriages and repeated curettages after natural conceptions.

Similar situation with monogenic diseases. Only in this situation, termination of spontaneously occurring pregnancy at later terms is possible, which has even greater negative impact on woman's health.

Additionally, unfortunately, families often break up, unable to bear the "genetic burden" and considerable material diagnostic costs. Today IVF with PGT through quotas/mandatory health insurance gives a chance for healthy child birth in this patient group. Thus, we can preserve some marriages.

Recently another patient group is forming who will be recommended ART with PGT program. Couples who responsibly approach pregnancy planning undergo preconception screening, even if there were no reproductive dysfunction cases in the family. If identical mutations in genes that could lead to genetic disease in child are detected in both spouses, they'll be offered ART with PGT program. Since this screening is increasingly applied in practice, an increase in such patient flow should be expected soon.

— Is it permissible to select embryos by appearance — eye color, hair? Are there such practices?

— I'm against "designer babies" — selection by eye color, hair. In the USA, for example, you can pay a couple thousand dollars extra for such a "bonus."

Beauty ideals are cyclical: today "doll-like" is fashionable, tomorrow — expressive features like the next idol. Genetic diversity is an evolutionary reserve that nature created over centuries for adaptation to changing conditions. Discarding euploid healthy embryos for hair or eye color is senseless — modern cosmetology and lenses solve aesthetic preferences. The main thing is children's health.

What Limits PGT Application

— How well do patients understand PGT limitations?

— Like any method used in medicine, PGT also has its pros and cons, possibilities and limitations, complications. Patient understanding of PGT limitations remains weak, and patient informing during consultation strongly depends on physician position: some recommend testing to everyone for their own peace of mind ("I know genetics are fine"), others — strictly by medical indications. Key rule — honestly explain: PGT doesn't provide 100% guarantee of healthy child birth.

PGT-A checks chromosome number in embryo — mainly detects aneuploidies like Down, Patau, Edwards syndromes, as well as translocations and some duplications or deletions. The method is accurate at chromosomal level but doesn't see point mutations in individual genes, small deletions, duplications. This also depends on the PGT platform used. In practice there were cases: embryo "healthy" by PGT-A, but during pregnancy holoprosencephaly was detected — brain development disorder. In this case there's often no brain division into hemispheres.

PGT-M for monogenic diseases works pointedly: we develop special test systems/markers for family mutation and check specific couple's embryos. This isn't universal screening of all diseases at once. Whole-genome embryo sequencing is technically real, but for routine programs too expensive, lengthy, and complex to interpret.

— Why is professional patient consultation before PGT important and what risks does the procedure itself carry?

— I always emphasize to patients: PGT isn't absolute guarantee, this is directly stated in our reports. Embryo biopsy essentially represents a microsurgical procedure: using laser, so-called hatching is performed — an opening is formed in embryo shell, zona pellucida, through which several trophectoderm (or blastomere) cells are collected for genetic analysis.

After this, embryo is cryopreserved and PGT result awaited; if by studied pathology embryo is assessed as genetically favorable, reproductive specialist jointly with patients plans its transfer; when severe abnormality is detected, such embryo typically isn't used.

It's important to understand that all embryo manipulations are conducted outside incubator, where conditions maximally approximating natural are created for embryo: strictly controlled temperature, gas composition, absence of light exposure, special nutrient medium.

During biopsy, embryo is necessarily placed in different medium, intervention conducted in laboratory conditions, under artificial lighting and different gas composition and temperature, and this inevitably differs from "ideal" situation. Additional load is created by laser itself, which can also influence subsequent embryo viability.

Biopsy quality decisively depends on embryologist experience and skills: how much time embryo spends outside incubator, how carefully hatching and cell collection are performed. That's why embryo biopsy is considered one of the most responsible PGT stages: largely on this link depends success of entire diagnostics.

Patient consultation before PGT takes 1-1.5 hours: I use special folder with chromosome illustrations, procedure diagrams, report examples, etc. One could say, "PGT atlas-guide" that I created myself to facilitate patient information perception.

Here it's important to have knowledge from cytogenetics (explain chromosome rearrangements, unbalanced gametes, miscarriages), embryology (about biopsy on third or fifth day, mosaicism as biological phenomenon) and ability to read results — see mosaicism. Consulting specialist must provide all information to patients, and couple makes final decision itself, and for it to understand essence, specialist must be geneticist, embryologist and biologist simultaneously.

— Is repeat embryo biopsy possible if first PGT analysis failed? What risks?

— Yes, repeat embryo biopsy is technically possible, but associated with serious risks: requires thawing already biopsied embryo, new biopsy (impossible to hit previous hatching opening) and repeat vitrification. Cryopreservation is well-developed technology, but there's an embryo portion that won't survive this procedure, and repeat cryopreservation after two embryo biopsies reduces its implantation potential.

Repeat biopsy is risky but acceptable for severe monogenic disease when there's no other choice; for age patients where sole indication is age, we discuss — may remain without transfer material at all.

Example: 44-year-old woman, final IVF attempt, single embryo where analysis result couldn't be obtained, this also happens and is related to PGT technology peculiarity, we agree on transfer with mandatory subsequent amniocentesis (amniotic fluid analysis) for control. I write all options on paper: repeat biopsy (weak embryo), immediate transfer, psychological readiness for non-developing pregnancy or detected pathology.

Patient takes detailed scheme with risks, discusses with husband — final decision always with couple. Everything is individually weighed: medical history, age, concomitant somatic conditions — there are no universal protocols.

In such non-standard situations, at intersection of technologies, ethics and human hopes, the essence of our work is especially clearly visible. We fight for destiny, not protocol. Therefore each decision must be maximally considered and honest — both before technology and before patient.

— What challenges arise now with PGT inclusion in mandatory health insurance?

— In 2019, I organized a round table in the Federation Council, where we sought PGT inclusion in mandatory health insurance for patients with monogenic diseases. Finally, patients now have the opportunity to receive free PGT through quotas for both monogenic diseases and aneuploidies.

In 2026 they expanded them, but encountered a problem: money was allocated, but indications weren't clearly formulated — testing is offered to everyone. Incorrect PGT application can discredit the technology, undermine its reputation. According to recent scientific studies, in young women under 35-37 years, PGT doesn't increase IVF program effectiveness. Any medical service should have indications.

— Given PGT importance, should every ART clinic have its own genetic laboratory?

— No, not every ART medical center can afford to have a genetic laboratory.

PGT Availability in Russia

— Which genetic centers conduct PGT?

— Not all genetic centers can perform PGT. Working with embryo cells requires special "clean" zones. These zones must be provided in advance when planning laboratory that will perform PGT. To implement PGT program at Gemotest medical research center, "clean" zones were initially laid and specialized equipment selected.

PGT is modern technology and must be conducted on special expensive modern genetic equipment that must meet all advanced requirements: reliability, accuracy, compactness, ease and simplicity of use.

For laboratory equipment, solutions from Albiogen company are used, which for many years has supplied reagents and instruments for genetic research, allowing construction of complete closed cycle — from several embryo cell collection to their high-precision analysis in conditions meeting modern reproductive genetics requirements.

Additionally, besides modern equipment, successful ART with PGT program implementation requires qualified specialists mastering PGT technology; there aren't many in our country. Embryo cell diagnostics fundamentally differs from other biological material research, for example, blood cells. For PGT only several cells are collected.

Fundamental advantage for more accurate genetic disease testing is laboratory presence of full spectrum of modern genetic equipment, as well as specialist team confidently mastering all used technologies.

— Do you encounter medical tourists? How often, who are they?

— Rarely, but happens: from Austria, London, Baltics — mainly compatriots abroad or Russian-speakers with relatives in Russia.

Patients from London brought pregnancy loss biomaterial directly in test tube in suit pocket through airport — in Great Britain there are certain problems conducting such research. No direct foreigners: either not informed about our technologies or have prejudices against Russian medicine level, although we often surpass Western colleagues in capabilities and cost.

In Catholic countries church imposes strict ethical PGT restrictions — many procedures simply prohibited. Russia wins through high technology openness so far without religious barriers, providing patients access to advanced methods.

— Has human reproductive behavior changed, and what should be emphasized?

— Yes, reproductive behavior changed radically: earlier norm was second child by 25 years, now forty-year-old women often give birth to firstborn.

Life is prolonged by somatic prevention (early oncology, heart attacks), but reproduction biology is still beyond control: eggs aren't rejuvenated by pills, reproductive age is fixed. Formally by passport, 35+ women and men are considered youth, but biological age often doesn't match passport number.

As result, priorities shifted — career, status, material goods (car, apartment, travel) placed above family creation and childbirth, postponing reproductive start to critical age.

Must always remember that older future parents have higher reproductive dysfunction risks and affected child birth.

State program of free reproductive reserve screening — anti-Müllerian hormone (AMH) level determination combined with ovarian ultrasound — gives women objective ovarian reserve assessment. Low AMH can serve as clear signal of follicular pool depletion requiring immediate reproductive decisions.

On social networks the program met sharp criticism: "budget waste on nonsense, better treat sick children; state imitates care — give housing." Paradoxically, most vocal are those who already realized reproductive function; infertile people prefer silence.

Thousands of times at appointments we hear same thing: people facing infertility ready to give everything achieved in life just to give birth to healthy child. Someone sells apartments and houses, someone completely rebuilds career and daily life for chance to become parents. Many bitterly recall first abortion or how they postponed childbirth for years, being confident that "this won't happen to me" and fertility problems are always about someone else.

However reality is much closer than it seems: by various estimates, pregnancy difficulties are experienced by about 15-20% of reproductive age couples, i.e., essentially every fifth-sixth couple.

Must emphasize: conscious childbearing planning is fundamental survival instinct. Without possibility to leave offspring, human existence for many loses its ontological meaning: need for procreation is evolutionarily programmed in practically every living organism.

Classic example from nature — cicadas that live up to 17 years underground as larvae, then emerge to surface for only several weeks of adult life, whose sole biological purpose is reproduction, after which insect dies.

That's why, in my opinion, talking with young people about human reproductive function, its age and biological features is needed not when they've already faced infertility but significantly earlier — at minimum in high school and universities. Such awareness helps differently construct life plans, more consciously approach childbearing postponement and more carefully handle reproductive health.

FAQ

— Will PGT show guaranteed results?

— None of existing genetic methods today guarantee 100%, since this technology is associated with small amount of obtained biological material (several cells), embryo mosaicism (presence of cells with different chromosomal sets in body).

Additionally, mutations can arise in embryo during further development, after third-fifth day. After PGT, subsequent prenatal diagnostics is always recommended.

— Does it matter by what method embryo chromosome abnormality (aneuploidy) testing is conducted?

— Yes, it matters. Most accurate method allowing simultaneous analysis of all 24 chromosomes is Next-Generation Sequencing (NGS). Additionally, method allows detecting not only whole chromosome abnormalities but also small chromosome segment abnormalities, allowing successful method application for chromosomal translocation diagnostics.

— Is IVF program itself harmful?

— IVF has been used worldwide for over 30 years. If this technology had negative impact on patient health, it would hardly have existed so long and received increasing distribution in infertility treatment. Children conceived through IVF give birth to their own children, conceived naturally.

— What is further fate of remaining healthy embryos after transfer if there are more than two?

— After one or two embryo transfer, all other recognized genetically and morphologically favorable embryos begin cryopreservation. In perspective, two scenarios are possible.

If pregnancy doesn't occur in first pregnancy, in second cycle women carry frozen embryos without ovarian stimulation, reducing body load and making protocol more gentle.

If pregnancy occurs and ends in birth, woman can return to clinic after some time for remaining embryo transfer for future pregnancy planning. Modern vitrification methods allow preserving embryos at stable cryogenic temperatures for many years without losing implantation capacity.