For Providers

How can PGD for chromosomal rearrangements help my patients?

Preimplantation Genetic Diagnosis (PGD) can be used for chromosomal rearrangements including translocations, inversions, deletions and duplications. This can identify chromosomal abnormalities caused by these rearrangements, prior to achievement of a pregnancy. PGD is performed in conjunction with an In Vitro Fertilization (IVF) cycle.

RGI offers PGD for chromosomal rearrangements by Next-Generation Sequencing (NGS) and array Comparative Genomic Hybridization (aCGH), which automatically includes 24-chromosome PGS. Alternatively, certain rearrangements can be tested using Fluorescent in situ Hybridization (FISH). Our expert cytogeneticist will review each report to determine the recommended testing strategy for the particular chromosomal rearrangement. Typically there is no work-up required to perform this testing.

RGI is the only lab which offers nuclear conversion to differentiate between normal and balanced translocation carrier embryos. This highly specialized technique requires an RGI embryologist to perform the biopsy. Conversion requires a Day 3 biopsy.