Preimplantation Genetic Testing: Essential Guide

When working with Preimplantation Genetic Testing, a lab method that checks embryos for genetic problems before they are placed in the uterus. Also known as PGT, it helps reduce the chance of inherited diseases.

The technique is often paired with In vitro fertilization (IVF), the process of fertilizing eggs outside the body and then transferring embryos back into the uterus. preimplantation genetic testing adds a genetic screening layer, allowing doctors to pick embryos without the genetic issues that cause miscarriage or serious illness.

How It Works: Step by Step

First, eggs and sperm are combined in the lab to create embryos. After a few days, a tiny sample of cells is taken during an embryo biopsy, a safe procedure that removes a few cells from each embryo for analysis. Those cells go to a genetic lab where genetic screening, testing for chromosomal abnormalities, single‑gene disorders, or structural rearrangements is performed. The results guide which embryos are transferred, aiming for a healthy pregnancy.

There are three main types of testing. PGT‑A, screens for aneuploidy, the presence of extra or missing chromosomes helps older couples or those with recurrent miscarriage. PGT‑M, targets known monogenic disorders like cystic fibrosis is for families with a specific inherited disease. PGT‑SR, detects structural rearrangements such as translocations helps carriers of chromosomal swaps.

Those semantic links create a clear chain: preimplantation genetic testing encompasses embryo biopsy; embryo biopsy enables genetic screening; genetic screening influences embryo selection. This flow improves the odds of a successful, healthy pregnancy while avoiding costly trial‑and‑error cycles.

Accuracy is high—most labs report over 99% detection of the targeted abnormalities. Yet no test is 100% perfect. Mosaic embryos (mix of normal and abnormal cells) can give ambiguous results, and some rare mutations may slip through. Patients should understand that PGT reduces risk but does not guarantee a problem‑free baby.

Ethical questions often arise. Couples may wonder whether selecting embryos is “playing God,” or worry about discarding embryos with undesirable traits. Professional guidelines recommend pre‑test counseling, where a genetic counselor explains options, limitations, and emotional impacts. Informed consent ensures decisions align with personal values.

Cost matters too. In India, a full IVF cycle can range from ₹1.5‑2.5 lakh, and adding PGT typically adds another ₹50‑80 k per round. While pricey, many view it as an investment in long‑term health, especially for families with known genetic conditions. Choosing a clinic with certified embryologists and a reputable genetics lab can prevent unnecessary repeats.

Preparation starts months before the IVF cycle. Doctors may request carrier screening for both partners, detailed family history, and sometimes a blood test for viral infections. Knowing the timeline—stimulation, egg retrieval, biopsy, testing, and transfer—helps couples plan work, travel, and emotional support.

Below you’ll find a curated set of health articles that dive deeper into related topics such as fertility treatments, genetic disorders, and pregnancy care. These resources will give you more context and practical tips as you consider whether preimplantation genetic testing fits your family plan.