Reproductive Genetics
Reproductive Genetics & Clinical Genomic Screening in London
Reproductive genetics evaluates how genomic factors influence fertility, pregnancy progression, and inherited neonatal health conditions. Based in London, our clinical service provides structured genomic screening and specialist genetic counselling for prospective parents, individuals experiencing recurrent pregnancy loss, and couples undergoing in vitro fertilisation (IVF). By identifying potential genetic variants and chromosomal abnormalities prior to or during pregnancy, we provide the objective data required to support informed clinical decisions and optimise reproductive outcomes.
Our clinic brings together advanced diagnostic technology, personalised patient care, and a strong commitment to ethical medical practice. Leading our team is Dr Ehsan Ghayoor Karimani, a distinguished expert in reproductive medicine and genetics. His extensive experience and compassionate approach ensure that each patient receives bespoke care tailored to their unique circumstances.
Choosing London also means benefitting from the UK’s exceptional healthcare standards. All reproductive genetic services are delivered in accordance with rigorous regulatory guidelines, ensuring both accuracy and safety. In addition, our clinic provides access to cutting-edge genetic testing methods and laboratory facilities, enabling precise detection of inherited conditions and the most suitable treatment plans. Whether you are based in the UK or travelling from abroad, London Genetics offers a trusted destination for anyone seeking the highest quality reproductive genetic care.
Clinical Leadership: Consultant-led care delivered by Dr Ehsan Ghayoor Karimani, a Specialist Clinical Geneticist with established expertise in reproductive medicine.
Targeted Embryo Screening: Access to Preimplantation Genetic Testing (including PGT-A, PGT-M, and PGT-SR) to assess chromosomal and genetic integrity within IVF cycles.
UK Regulatory Compliance: All diagnostic tests are conducted in accredited laboratory facilities operating under strict UK medical regulations to ensure technical accuracy and patient safety.
What is Reproductive Genetics and How Does It Support Family Planning?
Reproductive genetics is a clinical specialty focused on evaluating how an individual's or couple's genomic profile influences fertility, conception, and the long-term health of their offspring. This discipline integrates advanced molecular diagnostics with clinical genetic counselling to identify potential hereditary risks, chromosomal structural anomalies, and genetic variants before or during pregnancy.
By analysing specific genomic data points, this field provides comprehensive scientific insights that support proactive family planning, replacing guesswork with data-driven and managed medical interventions.
In clinical practice, it addresses the core biological parameters that can impede a successful pregnancy, including identifying carrier statuses for inherited conditions, investigating unexplained fertility challenges, and evaluating parental chromosomal configurations.
For couples undergoing assisted reproductive technology, such as in vitro fertilisation (IVF), the integration of genetic screening provides an unshakeable understanding of embryo viability and developmental stamina prior to transfer.
Through early diagnostic procedures like pre-conception screening or advanced embryo profiling, prospective parents gain clear insights into their reproductive options, allowing clinicians to devise tailored management plans and streamline fertility treatments.
A safer and more predictable pathway to parenthood. Ultimately, reproductive genetics significantly reduces the likelihood of transmitting known inherited disorders, transforming abstract sequencing into a personalised blueprint that gives prospective parents absolute control over their reproductive journey.
Who Can Benefit from Our Reproductive Genetics Services?
Clinical reproductive genetics provides essential medical insights for individuals and couples seeking objective clarity regarding their fertility and family planning options. Investigating genomic frameworks allows clinical teams to identify underlying genetic factors that may impact conception, pregnancy stability, and neonatal health. Our specialized services are specifically structured to address the clinical needs of distinct patient groups navigating complex reproductive pathways.
Couples Undergoing Assisted Reproductive Technology and IVF
For patients undergoing in vitro fertilisation (IVF), integrating reproductive genetics into the treatment plan helps optimise clinical outcomes. Genetic evaluation assists in assessing embryo viability prior to transfer, lowering the risk of implantation failure, and managing the emotional and financial demands of repeated, unsuccessful assisted reproductive cycles.
Individuals and Couples Facing Recurrent Pregnancy Loss
Repeated miscarriages can often be attributed to balanced chromosomal structural rearrangements, such as translocations, or specific genetic mutations within the parental or embryonic genomes. Comprehensive diagnostic testing helps identify these hidden genetic factors, allowing our clinical team to introduce targeted interventions and structured management plans for future pregnancies.
Women of Advanced Maternal Age
Prospective mothers aged 35 and older experience a statistically higher incidence of meiotic non-disjunction, leading to chromosomal aneuploidies such as Down syndrome, Edwards syndrome, and Patau syndrome. Utilizing reproductive genetics screening early in the family planning process or during early gestation provides objective, risk-mitigating data to support clinical decisions.
Families with a Documented History of Inherited Genetic Disorders
Individuals who are aware of inherited conditions within their lineage, or those who discover single-gene mutation carrier statuses through preconception screening, require bespoke clinical pathways. Our specialized programmes are designed to evaluate transmission risks and provide practical, diagnostic alternatives to prevent the passing of inherited diseases to future generations.
Couples Diagnosed with Unexplained Male Infertility
Genetic anomalies significantly contribute to male factor infertility, frequently manifesting as Y-chromosome microdeletions, sex chromosome aneuploidies, or specific single-gene mutations affecting spermatogenesis. Identifying these genetic causes allows for precise diagnostic categorization and informs choices regarding advanced sperm selection techniques or targeted IVF strategies.
Interdisciplinary Coordination: How We Partner With Your Fertility Clinic
Reproductive genetics is most effective when seamlessly integrated into your broader fertility or obstetric care, establishing structured, direct pathways of communication.
Isolated Care Pathways
- Operates in clinical isolation, leaving patients to manually transport and coordinate data between separate entities.
- Lacks synchronised coordination between raw laboratory analysis and active clinical treatment timelines.
- Delivers complex, raw genomic data files without expert curation, forcing external fertility teams to interpret findings independently.
Our Collaborative Ecosystem
- Establishes structured communication with your primary fertility clinic, private gynaecologist, or ART specialist in the UK and internationally.
- Coordinates directly with embryology teams to manage synchronised trophectoderm biopsies, secure cryopreservation, and oversee regulated sample transport.
- Delivers direct consultant-to-consultant reporting by Dr Ehsan Ghayoor Karimani, providing actionable insights that allow teams to immediately adapt treatment strategies.
Specialized Genomic Services We Offer
Our London practice delivers comprehensive reproductive genetics services using advanced molecular diagnostics and clinical observation. By evaluating genomic data at every critical juncture of family planning—pre-conception, pre-implantation, and early gestation—we provide clinicians and patients with precise, actionable data to manage hereditary risks and improve clinical outcomes.
1. Preimplantation Genetic Testing (PGT)
Executed in conjunction with in vitro fertilisation (IVF) cycles, Preimplantation Genetic Testing involves the sophisticated molecular analysis of embryo biopsies prior to uterine transfer. This advanced embryo screening allows our laboratory team to evaluate the genetic and chromosomal health of each embryo, facilitating the selection of embryos with the highest developmental potential. We provide three distinct, targeted testing pathways depending on patient clinical history:
PGT-A (Aneuploidy Screening): This pathway screens the entire chromosomal complement of the embryo to identify numerical abnormalities, such as missing or extra chromosomes. Identifying aneuploidies assists in preventing implantation failure, mitigating the risks associated with advanced maternal age, and reducing the incidence of early miscarriage.
PGT-M (Monogenic Testing): Designed specifically for individuals or couples with a documented risk of transmitting specific single-gene disorders, PGT-M targets known pathogenic variants within the family lineage. This includes conditions such as cystic fibrosis, Huntington’s disease, or thalassaemia, ensuring the selected embryos do not carry the targeted hereditary disease.
PGT-SR (Structural Rearrangements): Tailored for patients who are known carriers of balanced chromosomal translocations, inversions, or deletions. PGT-SR identifies embryos with unbalanced structural arrangements that could otherwise lead to pregnancy loss or severe congenital anomalies.
2. Pre-Pregnancy and Carrier Screening
Pre-conception screening utilizes non-invasive blood and saliva diagnostic protocols to evaluate prospective parents for recessive genetic variants. Many individuals are asymptomatic carriers of genetic mutations that present no personal health complications but pose a significant reproductive risk if both partners carry variants for the same condition. By conducting comprehensive genomic sequencing well before conception, our clinical team can identify these hidden statuses and establish preventive reproductive strategies.
3. Advanced Prenatal Screening (Including NIPT)
For ongoing pregnancies, we offer advanced non-invasive prenatal testing (NIPT) alongside traditional screening methodologies to safely monitor fetal genomic integrity. NIPT analyzes cell-free fetal DNA (cffDNA) circulating within the maternal bloodstream from as early as the tenth week of gestation. Operating under strict UK medical regulations and laboratory quality controls, this highly accurate screening method poses zero risk to the pregnancy while delivering precise screening data for common autosomal aneuploidies and sex chromosome variations.
4. Specialist Genetic Counselling for Couples
The interpretation of complex genomic sequencing reports and molecular diagnostic data requires focused clinical expertise. Our structured genetic counselling sessions bridge the gap between laboratory outputs and practical family planning. Clinical geneticists work directly with couples to explain diagnostic findings, quantify specific reproductive transmission risks, address the implications of male and female infertility factors, and outline the safest medical pathways forward with complete clinical objectivity.
Our Clinical Process: Four Structured Steps from Consultation to Results
To ensure transparency, technical accuracy, and clinical continuity, our reproductive genetics framework operates through a clear, regulated workflow. We systematically eliminate ambiguity from the diagnostic process by outlining exactly how samples are gathered, analysed, and translated into actionable clinical insights.
Your diagnostic pathway begins with an in-depth clinical consultation with Dr Ehsan Ghayoor Karimani, our Specialist Clinical Geneticist, conducting a rigorous review of medical records, multi-generational family pedigrees, and family planning objectives.
Initiating targeted sample collection based on clinical requirements, ranging from parental carrier screening to highly regulated trophectoderm biopsies within accredited London laboratory facilities adhering to strict UK medical regulations.
Utilising next-generation sequencing (NGS) and chromosomal microarray technologies to perform meticulous genomic curation, mapping sequencing data to identify pathogenic variants, structural rearrangements, or aneuploidies.
Bridging complex laboratory outputs with clear medical guidance. Our clinical geneticist presents comprehensive diagnostic findings, detailing clinical management pathways and coordinating directly with your ART team.
Benefits of Our Process: Transitioning from analytical uncertainty to objective, data-driven insights transforms complex laboratory findings into an unshakeable, personalised blueprint designed to optimise clinical safety, support informed family planning, and streamline advanced fertility care.
Why Choose Our Practice for Your Reproductive Genetics Pathway?
Selecting a clinical partner for reproductive genetics requires evaluating technical precision, regulatory compliance, and clinical expertise. Our London-based service operates at the intersection of advanced molecular diagnostics and patient-centred clinical practice, ensuring that your genomic data is processed to the highest medical standards.
Consultant-Led Clinical Expertise: Your diagnostic pathway is designed and monitored by Dr Ehsan Ghayoor Karimani, a Specialist Clinical Geneticist with established expertise in reproductive medicine and clinical genomics. This ensures that your screening protocols are guided by verified medical authority rather than automated laboratory algorithms.
Adherence to Rigorous UK Medical Standards: Operating within London’s premier medical framework means all diagnostic testing, laboratory management, and patient care pathways fully comply with stringent UK healthcare regulations. This rigorous oversight guarantees the highest levels of safety, data privacy, and diagnostic fidelity.
Advanced Genomic Curation Frameworks: Our practice utilises highly sensitive next-generation sequencing (NGS) and sophisticated genomic curation techniques. By going beyond routine screening metrics, we identify complex structural rearrangements and subtle genetic variants that standard diagnostic alternatives may overlook, providing superior diagnostic clarity.
Bespoke, Evidence-Based Case Management: Genetic profiles and family histories are unique; therefore, diagnostic approaches must be equally distinct. We reject standardised, one-size-fits-all testing packages in favour of custom-engineered screening strategies tailored precisely to your clinical background, lineage, and reproductive goals.
Clinical Outcomes: The Impact of Advanced Reproductive Genetics
Resolving the complexities of unexplained infertility or recurrent miscarriages—often referred to as the clinical diagnostic odyssey—provides essential biological clarity for both families and their medical teams. By integrating our structured reproductive genetics framework into your healthcare strategy, you achieve measurable diagnostic milestones that directly inform clinical outcomes.
Reduction in the Risk of Pregnancy Loss: Investigating embryonic chromosomal health prior to implantation allows for the targeted selection of balanced, euploid embryos. This precise laboratory screening significantly reduces the incidence of miscarriages linked to numerical aneuploidies or inherited structural rearrangements.
Optimisation of Assisted Reproductive Outcomes: Identifying and eliminating severe chromosomal abnormalities before embryo transfer improves overall in vitro fertilisation (IVF) success rates. This target-driven selection process minimizes the physical, emotional, and financial burdens associated with repeated, unsuccessful assisted reproductive cycles.
Objective and Informed Family Planning: Replacing clinical ambiguity with high-fidelity genomic data allows prospective parents to assess their reproductive pathways with complete confidence. Comprehensive pre-conception and pre-implantation insights remove uncertainty regarding heritable conditions, enabling proactive family decisions.
Definitive Diagnostic Breakthroughs for Clinicians: Our deep genomic curation provides referring fertility specialists and obstetricians with verified, data-backed clinical roadmaps. Identifying specific genetic variants linked to male factor abnormalities or maternal age risks ensures that subsequent therapeutic interventions are precisely targeted.
Costs, Funding, and Choosing Your Clinical Pathway
Navigating the financial and administrative aspects of advanced genomic testing is an essential part of organising your care pathway. Understanding the structure of these services ensures clarity from the outset of your diagnostic journey.
Clinical Fees Structure
The total cost of reproductive genetics screening varies depending on the specific molecular diagnostics required, such as the number of embryos undergoing Preimplantation Genetic Testing (PGT) or the complexity of parental carrier sequencing.
Private Insurance Coverage
Specialised protocols and private consultant sessions typically require private funding. We advise checking with your private medical insurance provider beforehand, as certain diagnostic pathways for recurrent pregnancy loss may be covered.
Selecting an Accredited Centre
Choosing where to undergo genetic screening requires evaluating laboratory credentials, specialist qualifications, and integrated clinical support. Ensure you receive fully contextualised clinical guidance rather than raw data.
Integrated Quality & Support
Prospective patients should prioritise clinics that provide dedicated genetic counselling, maintain full compliance with UK regulatory bodies, and work in direct synchronisation with active IVF clinical teams.
Clinical Case Studies and Academic Contribution
At our practice, clinical outputs directly support the advancement of international reproductive medicine and peer-reviewed genomic research. By compiling anonymous clinical case data, our advanced genomic curation frameworks demonstrate verifiable success in resolving complex reproductive challenges that standard diagnostic pathways fail to identify.
Resolving Complex Chromosomal Structural Rearrangements
In documented clinical cases involving balanced parental translocations—where couples experienced years of unexplained recurrent pregnancy loss—our targeted PGT-SR protocols successfully identified balanced, viable embryos. By filtering out structural imbalances prior to transfer, patients achieved full-term, healthy pregnancies, providing a definitive clinical template for managing complex structural rearrangements.
Addressing Severe and Unexplained Male Factor Infertility
Our clinical team has successfully managed cases where standard semen analyses indicated idiopathic infertility. Through high-resolution genomic sequencing, we identified specific Y-chromosome microdeletions and genetic variants impacting spermatogenesis. This molecular diagnosis allowed fertility specialists to alter their assisted reproductive strategies, implementing precise sperm selection techniques that resulted in successful fertilisation and healthy births.
A Trusted Referral Centre for UK and International Patients
Our adherence to rigorous British medical frameworks and active contribution to clinical genetics makes our London practice a trusted destination for complex case management. We regularly collaborate with leading academic institutions and fertility networks globally, ensuring that both local UK residents and international patients benefit from evidence-based, leading-edge reproductive genetics workflows.
Conclusion
In summary, Reproductive Genetics offers a remarkable combination of expert knowledge, cutting-edge technology, and compassionate care. Whether you are planning a family, facing challenges with pregnancy, or seeking donor options, London provides a trusted environment equipped to support your journey.
By choosing a specialist clinic like London Genetics, you gain access to personalised services tailored to your unique needs, from genetic testing and counselling to advanced IVF techniques. Early intervention and informed decisions are key to achieving the best possible outcomes for you and your future child.
If you’re ready to take the next step, don’t hesitate to reach out and book a consultation. Your path to parenthood deserves the highest standard of care — and in London, that care is within reach.
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Dr Ehsan Karimiani
In this section you can check frequently asked questions.
What is reproductive genetics and why is it important?
Reproductive genetics involves studying genes and chromosomes to understand how they affect fertility, pregnancy, and the health of a baby. It’s important for identifying genetic risks early and helping couples make informed decisions.
How does genetic testing improve the success rates of IVF?
Genetic testing, such as Preimplantation Genetic Testing (PGT), screens embryos for abnormalities before implantation, increasing the chances of a healthy pregnancy and reducing the risk of miscarriage.
Is genetic counselling necessary before undergoing genetic tests?
Yes, genetic counselling helps couples understand the implications of test results, explore options, and prepare emotionally for any outcomes. It’s a crucial part of the process.
Are genetic tests covered by the NHS?
Some genetic tests may be available on the NHS, but many specialised or private services require self-funding or private insurance. It’s best to check with your provider beforehand.
What is the difference between carrier screening and prenatal testing?
While both are essential components of reproductive genetics, they are performed at different stages:
Genetic Carrier Screening: Ideally done before pregnancy. It analyses the parents’ DNA (usually via a simple blood or saliva sample) to see if they carry silent genetic mutations for conditions like Cystic Fibrosis or Sickle Cell Anemia that could be passed to their child.
Prenatal Testing (like NIPT): Performed during pregnancy (from week 10 onwards). It analyses cell-free fetal DNA present in the mother’s blood to screen the developing baby for chromosomal abnormalities, such as Down’s syndrome, with exceptional accuracy.
Can reproductive genetic testing help identify the causes of recurrent miscarriage or IVF failure?
Yes, absolutely. Chromosomal abnormalities in the embryo are the leading cause of early pregnancy loss and unsuccessful IVF cycles. Through reproductive genetics assessments—including parental karyotyping and Preimplantation Genetic Testing (PGT) for IVF embryos—our clinical specialists can identify underlying chromosomal structural changes. This crucial data allows your fertility team to select the healthiest embryos, significantly increasing the chances of a successful, healthy pregnancy.
Are reproductive genetic tests safe for the mother and the developing baby?
Yes, the reproductive genetic screening tests we offer at London Genetics are entirely safe and non-invasive. Pre-pregnancy carrier screening requires only a simple cheek swab or routine blood sample from the parents. During pregnancy, our Non-Invasive Prenatal Testing (NIPT) is performed using a standard blood draw from the mother’s arm, posing absolutely zero risk of miscarriage to the developing baby, unlike older, invasive procedures like amniocentesis.
Who should consider reproductive genetic testing?
Reproductive genetic testing may be recommended for couples who are planning a pregnancy, experiencing infertility, have had recurrent miscarriages or unsuccessful IVF cycles, have a family history of inherited conditions, or belong to ethnic groups with a higher risk of certain genetic disorders. A consultation with a clinical geneticist can help determine which tests are appropriate for your individual circumstances.
How long does it take to receive reproductive genetic test results?
The turnaround time depends on the type of test being performed. Some genetic screening tests may be completed within a few weeks, while more comprehensive investigations can take longer. During your consultation, your specialist will explain the expected timeline and discuss when you can expect to receive your results and recommendations.
Can reproductive genetic testing reduce the risk of passing on inherited conditions?
While genetic testing cannot prevent inherited conditions, it can identify genetic risks before or during pregnancy. This information allows individuals and couples to explore appropriate reproductive options, including preimplantation genetic testing (PGT), prenatal testing, or other personalised approaches that support informed family planning and pregnancy care.
IVF & Genetics
IVF & Genetics refers to the integration of advanced reproductive technologies with genetic science to improve fertility outcomes. IVF, or in vitro fertilisation, involves fertilising an egg outside the body and transferring the embryo into the uterus. When combined with genetic testing, this process allows specialists to identify and select embryos that are free from certain genetic disorders or chromosomal abnormalities.
PGT (Preimplantation Genetic Testing)
Preimplantation Genetic Testing (PGT) is a revolutionary technique that allows prospective parents to assess the genetic health of embryos before implantation during an in vitro fertilisation (IVF) cycle. By examining embryos at the earliest stages of development, PGT provides invaluable insights into potential chromosomal or genetic abnormalities, enabling informed decisions about embryo transfer.
Recurrent Pregnancy Loss & Genetic Factors
is defined as the experience of two or more consecutive miscarriages, typically occurring before the 20th week of pregnancy. While occasional pregnancy loss can happen in any pregnancy, RPL is a particularly distressing condition that affects approximately 1–2% of couples trying to conceive.
Egg/Sperm Donor Genetic Screening
Sperm Donor Genetic Screening refers to a set of genetic tests carried out on potential sperm donors before their samples are used in assisted reproductive treatments.
Advanced Maternal Age Genetic Risks
When we talk about pregnancy, one important factor that often shapes both medical care and family planning is the age of the mother. The term Advanced Maternal Age is typically used when a woman conceives at the age of 35 or older.
