Advanced PGS & PGD Genetic Testing

PGS & PGD Genetic Testing (PGT-A / PGT-M) in Ahmedabad

Looking Beyond the Microscope — Transferring Chromosomally Verified Embryos

Director & Chief Fertility Consultant, Wellspring IVF | 15+ Years Experience

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There is a heartbreaking reality in IVF that no one prepares couples for. A Grade AA blastocyst — the highest embryology grade — is carefully transferred into a perfectly prepared uterus. The embryologist says, ‘This one looks excellent.’ And yet, the cycle fails. Or worse, a pregnancy begins and ends in an early miscarriage.

The question couples ask — ‘Why? What went wrong?’ — often has a single, invisible answer: the chromosome count inside that perfect-looking embryo was abnormal.

A microscope can assess what an embryo looks like. It cannot assess what an embryo contains at the chromosomal level. An embryo with Trisomy 21 will grade identically to a chromosomally normal one under conventional morphological grading.

This is the gap that Preimplantation Genetic Testing (PGT) was designed to bridge.
At Wellspring IVF, Dr. Pranay Shah uses Next-Generation Sequencing (NGS) to screen all 46 chromosomes before transfer — ensuring every embryo we transfer is biologically verified to have the highest chance of a healthy pregnancy.

In my 15 years of practice, I have seen patients come after 3 or 4 failed transfers elsewhere — each time with what looked like a perfect embryo. When we perform PGT-A and discover that 60% of their embryos were aneuploid, the picture becomes clear. We are not dealing with implantation failure; we are dealing with a genetic selection problem. PGT-A is not for every patient — but for the right patient, it changes everything."
— Dr. Pranay Shah, Director & Chief Fertility Consultant, Wellspring IVF & Women's Hospital

PGT-A vs PGT-M — Understanding the Difference

The term ‘Preimplantation Genetic Testing’ covers two different tests addressing two different clinical problems:

PGT-A (Formerly: PGS)

Full name: Preimplantation Genetic Testing for Aneuploidies

What it tests: All 46 chromosomes via NGS. Identifies euploid (normal) vs aneuploid (abnormal) embryos.

Who it is for: Women aged 35+, recurrent IVF failure, recurrent miscarriage, high sperm DNA fragmentation, prior chromosomally abnormal pregnancy.

Primary benefit: Transfer only chromosomally verified embryos — reducing miscarriage and improving live birth rates per transfer.

PGT-M (Formerly: PGD)

Full name: Preimplantation Genetic Testing for Monogenic Diseases

What it tests: A specific, pre-identified gene mutation. A custom genetic probe must be designed before the IVF cycle begins.

Who it is for: Carriers of Thalassemia, SMA, Sickle Cell, Huntington’s, BRCA1/2, Cystic Fibrosis, Fragile-X.

Primary benefit: Prevents transmission of known serious genetic disease to the child. Regulated under PCPNDT Act 1994.

PGT-A vs PGT-M — Quick Comparison

Feature	PGT-A (PGS)	PGT-M (PGD)
What it tests	Chromosome number — all 46 screened	Specific inherited gene mutation
Technology	Next-Generation Sequencing (NGS)	Custom PCR + NGS probe design
Who it is for	Advanced age, recurrent failure, recurrent miscarriage	Carriers of known hereditary conditions
Pre-cycle preparation	Minimal — standard IVF workup	Extensive — custom probe design (4–8 weeks)
Biopsy timing	Day 5 Blastocyst trophectoderm biopsy	Day 5 Blastocyst trophectoderm biopsy
Requires freeze-all?	Yes — results take 10–21 days	Yes — mandatory FET cycle
Sex selection?	ILLEGAL — PCPNDT Act 1994	ILLEGAL — PCPNDT Act 1994
Primary benefit	Reduces failed transfers and miscarriage	Prevents child inheriting genetic disease

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Who Should Consider PGT Testing?

PGT is not recommended for every IVF patient. Dr. Pranay Shah evaluates each couple's complete clinical history before advising PGT. The following profiles have strong evidence-based indications:

1Women of Advanced Maternal Age (35 years and above)

Egg quality declines significantly with age. By age 40, more than 60% of embryos may carry chromosomal abnormalities. PGT-A identifies the viable embryos within the cohort — saving time, cycles, and emotional resources.

2 Recurrent IVF Failure (2 or more failed transfers)

When morphologically good embryos repeatedly fail to implant, chromosomal abnormality is a primary undiagnosed cause. PGT-A determines whether the problem is genetic — before investing in another complete cycle.

3 Recurrent Pregnancy Loss (2 or more miscarriages)

Approximately 50–60% of first-trimester miscarriages result from chromosomal aneuploidy. PGT-A dramatically reduces recurrence risk by ensuring only euploid embryos are transferred.

4 Previous Chromosomally Abnormal Pregnancy

A prior pregnancy with Down Syndrome (Trisomy 21), Edwards Syndrome, Patau Syndrome, or other chromosomal conditions indicates elevated risk. PGT-A substantially reduces recurrence probability.

5 Severe Male Factor / High Sperm DNA Fragmentation

Significant sperm DNA damage (high DFI score) is associated with higher rates of chromosomal errors in embryos after fertilisation. PGT-A provides an additional verification layer.

6 Carriers of a Hereditary Genetic Disease (PGT-M)

Couples with confirmed Thalassemia, Sickle Cell, SMA, Huntington’s Disease, BRCA mutations, or other single-gene disorders should discuss PGT-M with Dr. Shah to prevent disease transmission.

Important Note: PGT does not improve egg quality or create better embryos. Its purpose is accurate selection — identifying the embryo with the highest biological probability of a healthy live birth from the embryos already available. Dr. Pranay Shah will only advise PGT when it is clinically appropriate.

How PGT-A Works — Step-by-Step at Wellspring IVF

PGT-A requires precise coordination between the IVF cycle, the embryology laboratory, and the genetic testing facility:

Step 1 — Pre-Cycle Genetic Counselling

Dr. Pranay Shah reviews your complete clinical history — age, previous IVF outcomes, miscarriage history, family genetic conditions. He confirms whether PGT-A or PGT-M is indicated and discusses realistic expectations, transparent costs, and the requirement for a freeze-all cycle.

Step 2 — IVF Stimulation and Egg Retrieval

A standard controlled ovarian stimulation protocol is followed. The goal is to retrieve an adequate number of mature eggs. Having multiple embryos is advantageous — a larger cohort increases the probability of finding at least one euploid embryo.

Step 3 — Fertilisation via ICSI and Blastocyst Culture

Eggs are fertilised using ICSI (Intracytoplasmic Sperm Injection). Embryos are cultured to the blastocyst stage (Day 5 or Day 6). Only blastocysts of adequate quality proceed to biopsy. Day 3 biopsy has been largely abandoned globally.

Step 4 — Trophectoderm Biopsy (Critical Step)

The embryologist uses a precision laser-assisted system to remove 4–6 cells from the trophectoderm — the outer layer that becomes the placenta. The inner cell mass (which forms the baby) is completely undisturbed. This procedure is safe and validated across thousands of cycles globally.

Step 5 — Freeze-All: Embryo Vitrification

Immediately after biopsy, all embryos are vitrified (flash-frozen). A fresh transfer is not possible — genetic results take 10–21 days. All embryos are stored safely until results are received.

Step 6 — Next-Generation Sequencing (NGS) Analysis

Biopsied cells are analysed at our partnered NABL-accredited genetics laboratory. NGS screens all 24 chromosome types, categorising each embryo as: Euploid (normal — suitable for transfer) | Aneuploid (abnormal — not suitable) | Mosaic (mixed — requires counselling).

Step 7 — Frozen Embryo Transfer of Verified Euploid Embryo

Once results are received, Dr. Pranay Shah personally consults the couple. In the next prepared Frozen Embryo Transfer (FET) cycle, the highest-quality euploid embryo is carefully thawed and transferred under ultrasound guidance.

Why Day 5 Biopsy — Not Day 3?

At Day 3, an embryo has only 8 cells — removing one removes 12.5% of its mass. At Day 5, the trophectoderm has 100–200 cells; removing 5–6 causes negligible disruption and produces far more accurate genomic data. Day 3 biopsy has been largely abandoned globally.

What Is a Mosaic Embryo?

A mosaic embryo contains a mixture of euploid and aneuploid cells. Some mosaic embryos self-correct and result in healthy pregnancies. Management of mosaics is nuanced — Dr. Shah provides personalised counselling based on mosaicism level and type.

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Genetic Diseases Detected by PGT-M (PGD)

PGT-M can be designed for virtually any known single-gene disorder, provided the specific mutation is identified in advance by a clinical geneticist:

Genetic Condition	Inheritance	Relevance for Gujarat / India
Beta-Thalassemia Major	Autosomal Recessive	One of the most prevalent inherited blood disorders in Gujarat. Carrier couples face a 25% risk of a severely affected child per pregnancy.
Sickle Cell Disease	Autosomal Recessive	HBB gene mutation. High carrier frequency in tribal and certain communities across Gujarat.
Who it is for	Advanced age, recurrent failure, recurrent miscarriage	Carriers of known hereditary conditions
Pre-cycle preparation	Minimal — standard IVF workup	Extensive — custom probe design (4–8 weeks)
Biopsy timing	Day 5 Blastocyst trophectoderm biopsy	Day 5 Blastocyst trophectoderm biopsy
Requires freeze-all?	Yes — results take 10–21 days	Yes — mandatory FET cycle
Sex selection?	ILLEGAL — PCPNDT Act 1994	ILLEGAL — PCPNDT Act 1994
Primary benefit	Reduces failed transfers and miscarriage	Prevents child inheriting genetic disease
Fragile-X Syndrome	X-Linked	FMR1 gene CGG expansion — leading genetic cause of intellectual disability. PGT-M prevents transmission.
Duchenne Muscular Dystrophy	X-Linked Recessive	DMD gene mutation. Carrier mothers can use PGT-M to select unaffected embryos for transfer.

Is PGS/PGD the Right Step for You?

Understand how genetic testing can support a healthier IVF outcome. Get a thorough evaluation of your medical and fertility history Receive honest advice on whether PGS/PGD is truly needed Consult Dr Pranay Shah for personalized guidance and next steps.

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Does PGT-A Actually Improve Outcomes? — Evidence-Based Analysis

The evidence supporting PGT-A is strongest in specific patient populations. An honest, clinically grounded comparison:

Patient Profile	Aneuploidy Rate Without PGT	Benefit of PGT-A	Dr. Shah’s Recommendation
Women aged 35–37	40–50% of embryos aneuploid	Identifies euploid embryos; faster time-to-pregnancy	Recommended
Women aged 38–40	55–65% of embryos aneuploid	Identifies the viable minority in the cohort	Strongly Recommended
Women aged 41 and above	70–80% of embryos aneuploid	Critical selection; informs donor egg decision	Strongly Recommended
Recurrent implantation failure	Chromosomal cause often undetected	Reveals if genetics is the root cause	Strongly Recommended
Recurrent miscarriage	High aneuploidy rate in embryos	Euploid transfer: 10–15% vs 25–40% miscarriage rate	Strongly Recommended
Women under 35, first cycle, good response	20–30% of embryos aneuploid	Marginal benefit; many euploid embryos naturally available	Not routinely recommended

Frequently Asked Questions

Common questions about PGT-A, PGT-M, embryo biopsy, cost, and legal restrictions in India.

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Does trophectoderm biopsy harm the embryo?
Modern Day 5 trophectoderm biopsy is considered very safe. Cells removed are from the trophectoderm (future placenta), not the inner cell mass (which forms the baby). Multiple peer-reviewed studies confirm no difference in birth defect rates between children born from biopsied versus non-biopsied embryos. Performed exclusively by senior embryologists at Wellspring IVF.
How much does PGT-A / PGS testing cost in Ahmedabad?
PGT-A costs are additional to the IVF cycle cost. The total depends on the number of embryos biopsied and the genetics laboratory. Dr. Pranay Shah provides a fully transparent cost breakdown during consultation — in line with Wellspring IVF’s No Hidden Costs philosophy. Call 9099946050 for current pricing.
Can PGT-A be done if I only have 1 or 2 embryos?
Technically yes, but this requires careful discussion. With only one or two embryos, PGT-A may reveal both are aneuploid — leaving no embryo to transfer. With a larger cohort (5+ blastocysts), PGT-A reliably identifies the best candidate. Dr. Shah will advise whether your cohort size justifies testing.
What happens if all embryos come back aneuploid?
This is emotionally difficult, but clinically important information. It confirms chromosomal quality is the core issue — and prevents multiple futile transfers or miscarriages. The pathway typically involves another stimulation cycle with a modified protocol, and if indicated, an honest consultation about donor egg options.
Is sex selection with PGD legal in India?
Absolutely not. Sex selection for non-medical reasons is a criminal offence under the PCPNDT Act 1994, punishable by imprisonment and financial penalties. Wellspring IVF will never discuss, offer, or perform any procedure for sex selection. Any such request will be firmly refused.
Does a euploid embryo guarantee pregnancy?
No. Euploid means correct chromosome number — the single largest cause of implantation failure addressed by PGT-A. However, a successful pregnancy also depends on uterine receptivity, endometrial quality, immune factors, and progesterone support. PGT-A gives each transfer the highest possible biological probability of success.
How long does PGT-M workup take before my IVF cycle?
PGT-M requires significant preparation. A custom genetic probe must be designed for your family’s mutation — typically taking 4–8 weeks before the IVF cycle can begin. Early consultation with Dr. Shah is essential if you carry a known hereditary condition.