Both Partners Are Carriers
Both carry disease-causing variants in the same recessive disease gene.
What Is PGT-M?
Preimplantation genetic testing for monogenic disorders checks IVF embryos for a specific inherited condition. A test is designed around the family's disease-causing genetic variant. PGT-M helps identify embryos at lower risk of that condition before transfer. It does not repair genes or test for every disease. By creating custom genetic probes tailored to your specific familial DNA variant, our laboratory accurately distinguishes unaffected embryos prior to implantation. Combined with thorough genetic counseling and pre-test workup, PGT-M offers families carrying known single-gene conditions a proactive path toward preventing the transmission of inherited genetic disorders.
Family History & Reproductive Risk
When Is PGT-M Suggested?
PGT-M is recommended in specific hereditary scenarios where genetic variants pose high reproductive risks.
One Partner Has a Dominant Condition
A confirmed inherited variant may create a significant risk for a child.
An X-linked Condition in the Family
A carrier or affected parent needs counselling on the specific inheritance pattern.
A Previously Affected Child or Pregnancy
Review the molecular diagnosis and recurrence risk before planning treatment.
Single-Gene Conditions Relevant to Indian Families
Which Conditions Can Be Tested?
Examples for case review. Availability depends on the exact familial variant.
01
Inherited Hearing Loss (GJB2)
Autosomal recessive form. A specific genetic cause of hearing loss. Not all hearing loss is caused by GJB2.
02
Beta-thalassaemia & Sickle Cell
HBB autosomal recessive disorders. Includes HbSS and compound genotypes. Blood disorders carry a major Indian burden.
03
Spinal Muscular Atrophy & DMD
SMN1 and DMD X-linked disorders involving progressive muscle weakness and motor neuron conditions.
04
Cystic Fibrosis & Metabolic Disorders
Includes CFTR, CYP21A2, ATP7B (Wilson Disease), GBA1, and GAA (Pompe Disease).
Before Embryo Testing
PGT-M Starts with the Family
Confirm the molecular diagnosis and complete test preparation before IVF where possible.
Step 1
Step 1: Genetic Counselling
Review family tree, reports, and recurrence risk. Compare PGT-M with prenatal diagnosis and other options.
PGT-M Steps
Step 2
Step 2: Pre-PGT-M Test Work-Up
Family-specific laboratory work-up using parental blood/DNA to establish linked markers and validate the assay.
PGT-M Steps
Step 3
Step 3: IVF and Embryo Culture
Collect and fertilise eggs. Culture embryos to suitable blastocysts for biopsy, even if naturally fertile.
PGT-M Steps
Step 4
Step 4: Biopsy and Freeze
Sample 5 to 10 outer blastocyst cells. Embryos are usually vitrified while testing proceeds separately.
PGT-M Steps
Step 5
Step 5 & 6: Analysis & Transfer Plan
Detect familial variants via PCR, SNP haplotyping, or NGS. Review results and plan frozen transfer.
PGT-M Steps
What Are the Important Limits?
Understanding technical limitations and procedural factors is essential before starting PGT-M.
Clinical Guidance
Prenatal confirmation through CVS or amniocentesis should still be offered during pregnancy.
Important limits
Allele dropout, recombination, contamination, or assay limitations can cause an incorrect result.
Biopsy may damage an embryo, and some embryos do not survive freezing and warming.
A cycle may produce no embryo suitable for transfer.
NIPT is not a substitute for diagnostic confirmation like CVS or amniocentesis during pregnancy.
Testing does not guarantee pregnancy or a live birth.
Understanding Genetic Risk
How Can a Condition Be Inherited?
The inheritance pattern guides the test and the expected embryo results.
25–50%Expected inheritance probability ratios depending on autosomal recessive or dominant patterns
Expected probabilities and outcomes
Autosomal Recessive (25% Affected)
When both parents are carriers, each pregnancy has a 25% affected, 50% carrier, and 25% non-carrier probability.
Autosomal Dominant (50% Risk)
A heterozygous affected parent typically has a 50% chance of passing on the variant.
X-Linked Conditions
Risk depends on which parent carries the variant and the child's chromosome inheritance.
Independent Probabilities
Probabilities repeat independently across embryos; four embryos do not guarantee one in each category.
Cost Considerations
What Costs Should You Request Before Treatment?
Before agreeing to treatment, request comprehensive cost breakdowns for all associated medical steps.
01
Request costs for the Pre-PGT-M test work-up.
02
Account for IVF, biopsy, and embryo testing expenses.
03
Confirm freezing, annual cryostorage, and transfer charges.
04
Ask how inconclusive results or subsequent cycles would be charged.
Transparent Financial Planning
Clear cost inquiries ensure complete transparency throughout your family genetic testing journey.
Quick Reference
Consult our clinic team for exact package estimates regarding PGT-M services.
PGT-M FAQs
Frequently Asked Questions About PGT-M
Find clear answers regarding single-gene testing, procedures, limitations, and preparation.
No. It targets specified inherited variants. Some cases are not technically feasible, and it does not screen for all diseases.
Yes. Embryos must be created outside the body for biopsy and testing.
It is the family-specific work-up used to establish and validate embryo testing. It may require parental blood and relatives' DNA.
Often, for recessive disorders. The condition, possible carrier symptoms, and your preferences need review.
No. PGT-M targets a familial condition; PGT-A assesses chromosome number. Adding PGT-A is a separate decision.
No. It provides information for selection. It does not edit or repair an embryo's genes.
No. Offer CVS or amniocentesis to confirm the targeted result, alongside routine prenatal care.
Bring molecular genetic reports, carrier-screening results, family history, previous pregnancy records, and IVF reports.
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