PGT / PGD – Preimplantation Genetic Testing

PGT-A vs PGT-M vs PGT-SR

PGT-A counts the embryo’s 23 pairs of chromosomes and detects aneuploidies such as Down syndrome (trisomy 21), Edwards and Patau; it dramatically improves embryo selection in women over 35. PGT-M targets a specific single-gene disorder when one or both parents are carriers (thalassemia, cystic fibrosis, SMA, Huntington and others). PGT-SR is for couples with balanced translocations or other structural rearrangements.

PGT Workflow

On day 5 of culture, when embryos reach the blastocyst stage, the embryologist takes a 5–10 cell biopsy from the trophectoderm (the layer that will form the placenta). The biopsy is shipped to the genetics laboratory where NGS results return in 7–10 days. Embryos are vitrified during this period; the genetically healthy embryo is then thawed and transferred in a subsequent cycle.

Conditions Detected with PGT

Single-gene disorders (PGT-M): β-thalassemia, sickle cell anemia, SMA, cystic fibrosis, Duchenne muscular dystrophy, Huntington, haemophilia, fragile X. Chromosomal anomalies (PGT-A): Down, Edwards, Patau, Turner, Klinefelter. PGT-SR for balanced translocations, inversions, mosaicism. HLA typing makes it possible to conceive a sibling whose stem cells can treat an existing affected child.

Who Should Consider PGT?

Couples with maternal age 35+, known carriers of inherited disorders, repeated IVF failure, recurrent miscarriage, severe male factor, balanced-translocation carriers and families at risk for sex-linked disorders benefit most from PGT.

Treatment Steps

1. 1Embryo Biopsy
2. 2Genetic Analysis (NGS)
3. 3Embryo Selection
4. 4Embryo Transfer

Who Is It For?

• Maternal age 35+
• Genetic disorder carriers
• Repeated IVF failure
• Recurrent miscarriage
• Severe male factor
• Balanced translocation carriers
• X-linked disease risk

Frequently Asked Questions