Genetic Testing (PGT/PGD) in Pune: A Complete Clinical Guide for Fertility Patients

Pre-implantation Genetic Testing (PGT) is an umbrella term for several genetic analyses performed on embryos created through IVF before they are transferred to the uterus. It is distinct from prenatal testing, which occurs after pregnancy is established. PGT is divided into three clinically recognised subtypes — each with a specific indication.

PGT-A (formerly PGS) screens for chromosomal aneuploidy, meaning it checks whether each embryo has the correct number of 46 chromosomes. Aneuploid embryos are a leading cause of failed implantation and early miscarriage. PGT-M (formerly PGD) tests for specific monogenic or single-gene disorders — such as thalassaemia, which is clinically significant among populations in Maharashtra, including Pune. PGT-SR identifies structural chromosomal rearrangements carried by one or both parents that can lead to abnormal embryos.

For Pune couples, understanding which subtype applies to their situation requires a thorough clinical assessment including karyotyping of both partners, reproductive history, and family genetic history. HomeIVF Medical Board recommends a dedicated genetic counselling session before any PGT cycle begins, ensuring that testing is clinically justified and properly interpreted.

Not every IVF patient requires PGT, but certain clinical profiles strongly benefit from it. Knowing the indications helps Pune couples make informed, evidence-based decisions rather than defaulting to every available test.

PGT-A is typically recommended for women over 37, couples with two or more failed IVF cycles despite good embryo grades, patients with recurrent pregnancy loss (three or more miscarriages), and men with severe oligospermia where sperm DNA fragmentation may contribute to aneuploid embryos.

PGT-M is critical for couples where one or both partners are known carriers of hereditary conditions — thalassaemia trait is particularly prevalent in Maharashtra, and couples from communities in Hadapsar, Kothrud, and surrounding suburbs are increasingly seeking pre-conception carrier screening. PGT-SR benefits couples where one partner carries a chromosomal inversion or translocation identified on a karyotype report.

HomeIVF's intake questionnaire and AI triage system helps patients across Pune identify whether their history meets clinical criteria for PGT, directing them to the appropriate specialist consultation without unnecessary delay or expense.

Understanding exactly how PGT integrates into an IVF cycle removes much of the anxiety associated with the procedure. The process follows a well-defined sequence that Pune patients should feel empowered to navigate.

Step 1 — Ovarian stimulation and egg retrieval: This phase is identical to a standard IVF cycle, involving 8–12 days of injectable gonadotropin medications with frequent ultrasound monitoring. HomeIVF coordinates home-based monitoring scans at certified diagnostic centres near your locality — whether you are based in Baner, Viman Nagar, or Hadapsar — minimising unnecessary commutes to distant hospitals.

Step 2 — Fertilisation and embryo culture: Eggs are fertilised via ICSI (intracytoplasmic sperm injection) and cultured to blastocyst stage over 5–6 days in the embryology laboratory.

Step 3 — Trophectoderm biopsy: A trained embryologist removes 3–5 cells from the outer layer of the blastocyst (the trophectoderm) using a laser-assisted technique. This does not harm the inner cell mass that forms the foetus.

Step 4 — Genetic analysis: Biopsied cells are sent to an accredited genetic laboratory. Next-generation sequencing (NGS) is the current standard for PGT-A; PCR-based platforms are used for PGT-M.

Step 5 — Frozen embryo transfer (FET): Genetically normal embryos are cryopreserved and transferred in a subsequent prepared cycle, allowing the uterus to recover and optimising the implantation environment.

Pune's diverse demographic and the genetic burden of certain hereditary conditions in Maharashtra make specific PGD panels particularly relevant for local patients.

Thalassaemia major remains one of the most common serious hereditary disorders in India, with a carrier frequency of approximately 3–4% nationally — and higher in certain communities. Couples in Pune where both partners are beta-thalassaemia carriers have a 25% chance per pregnancy of an affected child. PGT-M for thalassaemia allows these families to achieve unaffected pregnancies without the difficult decision of termination following prenatal diagnosis.

Spinal Muscular Atrophy (SMA) carrier rates have gained clinical attention since the neonatal screening push in India. BRCA1/BRCA2 mutations, relevant to families with a strong history of breast or ovarian cancer, can also be screened via PGT-M, enabling what is clinically termed 'preimplantation genetic diagnosis for hereditary cancer predisposition.'

Additionally, chromosomal translocations — often discovered only after recurrent miscarriage or a stillbirth — are a scenario HomeIVF Medical Board sees with some regularity in Pune patients, particularly those who have not previously undergone karyotyping. Early identification transforms outcomes.

Cost transparency is one of the most significant concerns for fertility patients in Pune, and rightly so — PGT adds a meaningful expense layer to an already significant IVF investment. HomeIVF IVF packages start from ₹1.5 lakh, with PGT add-ons priced separately based on the number of embryos biopsied and the type of genetic analysis required.

For PGT-A using NGS, the laboratory cost in India typically covers a set number of embryo biopsies, with additional per-embryo fees if more blastocysts are available for testing. PGT-M cycles require a pre-cycle probe development phase (sometimes called 'workup') that adds 6–10 weeks before the IVF stimulation begins — a timeline consideration Pune patients must factor into their planning, particularly if they have a deadline such as a partner's upcoming work relocation or a medical urgency.

The total timeline from initial HomeIVF consultation to embryo transfer in a PGT-M cycle typically spans 4–6 months. A PGT-A cycle, requiring no probe workup, can complete in 2–3 months. HomeIVF's care coordinators based in Pune provide clear milestone timelines at the outset, so families in Kothrud or Baner can plan work schedules and support systems accordingly.

One of the most practical advantages HomeIVF brings to Pune patients undergoing PGT cycles is the integration of home-based monitoring with senior-specialist oversight — eliminating the need for multiple clinic visits that are often logistically challenging across Pune's growing traffic corridors.

During the stimulation phase, hormone blood tests (AMH, E2, LH, progesterone) and follicular tracking ultrasounds are arranged at accredited partner diagnostic centres closest to the patient's residence — including areas like Viman Nagar, Baner, and Hadapsar — with results reviewed remotely by HomeIVF's senior reproductive endocrinologists the same day. Medication adjustments are communicated via the platform's secure messaging system within hours.

The AI-powered symptom tracker within the HomeIVF platform allows patients to log daily responses to stimulation medications, flagging early signs of ovarian hyperstimulation syndrome (OHSS) for clinical review. This is particularly valuable in PGT cycles where freezing all embryos is already the plan — making a freeze-all strategy for OHSS prevention entirely seamless.

Post-transfer luteal phase support — progesterone administration, monitoring, and beta-hCG scheduling — is also managed through HomeIVF, with senior specialists available for teleconsultation seven days a week.

Receiving PGT results is one of the most emotionally charged moments in a fertility journey, and clinical literacy makes an enormous difference in how couples process their outcomes.

A euploid result means the embryo has a normal chromosomal complement and is cleared for transfer. An aneuploid result means the embryo carries an abnormal chromosome number — it will not be transferred and is typically discarded or kept for research with patient consent. A mosaic result — where some cells are normal and others aneuploid — is clinically complex; HomeIVF Medical Board recommends these cases be reviewed by a senior reproductive geneticist, as transfer of mosaic embryos may be appropriate in selected situations with documented counselling.

For PGT-M, results are reported as 'affected,' 'carrier,' or 'unaffected' for the specific condition tested. Unaffected embryos (which may or may not be carriers of an autosomal recessive condition) are eligible for transfer based on the family's informed preference.

Pune patients sometimes encounter situations where all embryos are aneuploid — particularly in older patients or those with poor ovarian response. In these cases, HomeIVF Medical Board typically recommends a donor egg consultation before proceeding, and our platform facilitates this conversation sensitively and without delay.

Despite Pune's relatively advanced healthcare infrastructure, several real barriers prevent patients from accessing PGT appropriately. HomeIVF has built its service model specifically to address these.

The first barrier is information asymmetry. Many Pune patients — including well-educated professionals in Baner or Viman Nagar — arrive at their first fertility appointment without knowing that genetic testing even exists as an option. HomeIVF's AI-driven intake assessment proactively surfaces PGT as a consideration based on reproductive history flags, ensuring no eligible patient is overlooked.

The second barrier is fragmentation of care. Genetic counselling, IVF stimulation, embryology, and cycle monitoring often occur at different institutions across Pune, leading to communication gaps and delays. HomeIVF acts as a single point of coordination, managing all referrals, reports, and specialist communications through one platform.

The third barrier is emotional burden. Couples pursuing PGT — often after loss or repeated failure — need sustained psychological support alongside clinical care. HomeIVF provides access to fertility-trained counsellors as part of the care package, recognising that emotional wellbeing is not separate from clinical outcomes but directly influences them.

Finally, geographic accessibility remains a concern for patients in newer Pune suburbs. HomeIVF's network of partner diagnostic centres across the city ensures that monitoring visits are never more than a short drive from home.