Considering a ‘Non-Invasive’ Embryo Genetic Test? Fertility experts advise some caution

NEW DELHI: As more couples in India turn to assisted reproduction to build families, the country's leading fertility and embryology bodies have flagged a test marketed as a way to assess the genetic health of embryos without touching or biopsying them, saying it should not be used for routine clinical use due to high rates of misdiagnosis.

The technique referred to is non-invasive preimplantation genetic testing (niPGT), also called non-invasive chromosomal screening (NICS).

In a first-of-its-kind patient-focused initiative, the Indian Society for Assisted Reproduction (ISAR), the Indian Fertility Society (IFS), and the Academy of Clinical Embryologists (ACE) jointly evaluated niPGT to determine whether it is truly ready for clinical use.

The exercise was led by scientist Dr Deepak Modi at the Indian Council of Medical Research-National Institute for Research in Reproductive and Child Health (ICMR-NIRRCH).

After a detailed review of global evidence, the experts concluded that niPGT is not yet ready for routine clinical use in India and should not be used to decide which embryo to transfer.

Describing what niPGT is, Dr Modi said that in conventional IVF practice, embryos can be tested for chromosomal abnormalities using preimplantation genetic testing (PGT-A). This involves removing a few cells from the outer layer of the embryo, a procedure that is technically demanding and raises concerns about embryo safety.

"niPGT appears to offer a simpler alternative. Instead of removing cells, it analyses tiny fragments of DNA that embryos naturally release into the culture medium while growing in the laboratory," Dr Modi elaborated.

Because no biopsy is involved, the test is often promoted as "safer, non-invasive," and easier to perform, he said. This promise has led to growing interest among clinics and patients alike, and in recent years, several commercial laboratories have begun offering niPGT services in India.

Despite increasing uptake, there has been considerable uncertainty within the scientific and clinical community about whether niPGT provides results accurate enough to guide life-altering decisions, such as discarding embryos or choosing which embryo to transfer, Dr Modi stated.

In India, IVF treatment is largely patient-funded. This makes it especially important that add-on tests offered to patients are reliable, validated, and genuinely beneficial, he stressed.

Recognising this, ISAR, IFS, and ACE jointly initiated a formal review.

The expert panel reviewed data from 24 published studies, covering nearly 3,000 embryos tested using niPGT and compared against standard biopsy-based testing. Their findings raised serious concerns.

It found that niPGT matched conventional testing only about 78 per cent of the time, meaning one in five embryos may be misclassified.

This means genetically normal embryos could be wrongly labelled abnormal and discarded, while abnormal embryos could be incorrectly labelled normal and transferred, increasing the risk of miscarriage or chromosomal disorders.

More so, the experts found that there is no convincing evidence that niPGT improves implantation rates, pregnancy outcomes, or live birth rates.

The panel also noted that many niPGT protocols require six days of embryo culture, which itself has been linked to poorer outcomes in large studies.

The joint statement makes it clear that niPGT should not be used at present to select, rank, or discard embryos, said Dr Ameet Patki, president of ISAR.

While scientifically interesting and potentially promising in the future, the technology does not yet meet the standards required for a diagnostic test that determines embryo fate, emphasised Dr Geetanjali Sachdeva, director ICMR-NIRRCH.

For patients, this serves as a reminder to seek clear evidence before opting for expensive add-on tests.

For clinics and laboratories, it reinforces the responsibility to ensure that innovation does not outpace validation, said Dr Sujatha Ramakrishnan, president of ACE.

The societies stressed that niPGT should continue to be explored strictly within ethically approved research settings, said Dr Pankaj Talwar, president of IFS. As stronger evidence emerges, the guidance will be reviewed and updated, he said.

Nearly 97 per cent of an independent stakeholder panel comprising clinicians, embryologists, and geneticists across India endorsed the statement, underscoring broad professional agreement.

For the clinicians and embryologists, the statement provides clear, evidence-based guidance to avoid using niPGT for embryo selection until its accuracy and clinical benefits are reliably established.