Key IVF Genetic Test May Miss Critical Embryo Abnormalities
A landmark study has found that preimplantation genetic testing for aneuploidy (PGT-A), a widely used IVF screening tool, may fail to detect some genetic abnormalities in embryos. Published in a top medical journal, these findings have sparked concerns among fertility specialists and prospective parents worldwide.
How Reliable Is PGT-A?
PGT-A is designed to identify chromosomal abnormalities in embryos before implantation, improving IVF success rates and reducing miscarriage risks. However, the study reveals that PGT-A can miss certain errors, particularly mosaicism—where an embryo contains both normal and abnormal cells.
Researchers analyzed thousands of embryos and found:
– Biopsy limitations: PGT-A tests a small sample from the embryo’s outer layer, which may not reflect its full genetic makeup.
– False results: The test excels at detecting major anomalies (e.g., Down syndrome) but may miss smaller or mosaic defects.
“PGT-A is valuable but not infallible,” says Dr. Priya Sharma, a Mumbai fertility specialist. “Some ‘normal’ embryos may still carry risks, while some ‘abnormal’ ones could be viable.”
What This Means for IVF Patients
For couples undergoing IVF—especially in India, where fertility treatments are surging—this raises tough questions. Many rely on PGT-A to decide which embryos to implant, often at great emotional and financial cost.
Rahul and Ananya Mehta, a Delhi couple, shared: “We trusted PGT-A to ensure a healthy pregnancy. Now, we wonder if we discarded viable embryos.”
Next Steps for Prospective Parents
While PGT-A remains useful, experts recommend:
1. Informed discussions: Clinics should clearly explain the test’s limitations.
2. Advanced alternatives: Next-generation sequencing (NGS) and AI-based embryo analysis may offer greater accuracy.
3. Reevaluating mosaics: Some mosaic embryos can self-correct and lead to healthy births.
Dr. Arvind Choudhary, a geneticist, advises: “Patients should explore personalized testing rather than relying solely on PGT-A.”
The Future of Embryo Screening
As IVF demand grows—with 250,000+ cycles annually in India—improving genetic screening accuracy is critical. Ongoing research aims to refine testing methods, but for now, cautious optimism and thorough doctor-patient conversations are essential.
“The dream of a healthy baby requires understanding embryology’s complexities,” notes the study’s lead author.
