Preconceptional diagnosis for Robertsonian translocation as an alternative to preimplantation genetic diagnosis in two situations: a pilot study

Abstract

Introduction Preimplantation genetic diagnosis (PGD) is widely used for women heterozygous for a Robertsonian translocation. Preconceptional diagnosis (PCD), performed before fertilization, may be an alternative to PGD, especially in countries where PGD is restricted or prohibited, as in France. It could also give different information and clarify the influence of reproductive and obstetric history. Methods In our study, translocation was diagnosed before ICSI in five cases (group A), and after newborn or fetal aneuploidy or miscarriage in two cases, (group B). Results First polar body (PB1) analysis using acrocentric centromeric probes was done for 85 PB1s, and aneuploidy rate was at 42.4%. Oocyte aneuploidy rate differed (p< 0.0001) between groups A and B (30% vs 84%). Despite the small group sizes, we demonstrate a correlation (p= 0.0358) of aneuploidy rate in polar bodies after 2 or more attempts. Three live births were recorded, all in group A. Discussion PCD could thus be an alternative to PGD. This pilot study also provides new prognostic information taking into account the women's natural history, but further confirmation is required.

Healthy Baby Born to a Robertsonian Translocation Carrier following Next-Generation Sequencing-Based Preimplantation Genetic Diagnosis: A Case Report

“… 2 Because of the well-known risk of unbalanced conceptions in carriers of Robertsonian translocations, the male carriers are the candidates for intracytoplasmic sperm injection (ICSI)–IVF along with preimplantation genetic diagnosis (PGD). 3 4 …”