PGT-HLA programmes for the cure of a sick sibling: clinical strategies for this challenging search.

Reprod Biomed Online

IVI-RMA Seville, Seville, Spain; IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain; Departamento de Biología Molecular e Ingeniería Bioquímica, Universidad Pablo de Olavide, Seville, Spain; Departamento de Cirugía, Universidad de Sevilla, Seville, Spain.

Published: December 2023

AI Article Synopsis

  • The main goal of a PGT-HLA matching program is to have a healthy baby that can help treat or cure an older sibling who is sick.
  • Some people have successfully had healthy babies that match, but there have been many attempts that didn't work.
  • The authors studied different ways to improve these programs and shared a success story after a previous failure using their suggested approaches.

Article Abstract

The ultimate goal of a preimplantation genetic testing and human leukocyte antigen (PGT-HLA) matching programme is the birth of a healthy, HLA-compatible child for the treatment or cure of a sick sibling. Several authors have published successful cases of the births of children HLA-matched to siblings affected by different conditions and diseases. However, there are many reports of failed attempts. Couples seeking an HLA-matched sibling for their affected child look for positive outcomes in the shortest possible time. Nevertheless, there is no published consensus or guidelines with recommendations for these cases. Here, the authors aimed to analyse different approaches for these programmes, highlighting the most promising strategies for the families and fertility units. Furthermore, the authors mention a successful case of a PGT-HLA matching programme after a previous failed attempt following the strategies proposed. Which is the most cost-effective and time-efficient approach in a PGT-HLA matching programme?

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http://dx.doi.org/10.1016/j.rbmo.2023.103400DOI Listing

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PGT-HLA programmes for the cure of a sick sibling: clinical strategies for this challenging search.

Reprod Biomed Online

December 2023

IVI-RMA Seville, Seville, Spain; IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain; Departamento de Biología Molecular e Ingeniería Bioquímica, Universidad Pablo de Olavide, Seville, Spain; Departamento de Cirugía, Universidad de Sevilla, Seville, Spain.

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  • Some people have successfully had healthy babies that match, but there have been many attempts that didn't work.
  • The authors studied different ways to improve these programs and shared a success story after a previous failure using their suggested approaches.
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Purpose: To perform complex preimplantation genetic tests (PGT) for aneuploidy screening, Robertsonian translocation, HLA-matching, and X-linked hyper IgM syndrome (XHIGM) caused by a novel mutation c.156 G>T of CD40LG gene.

Methods: Reverse transcription PCR (RT-PCR) and Sanger sequencing were carried out to confirm the causative variant of CD40LG gene in the proband and parents.

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  • A study from 1998 to 2017 involved 162 couples, leading to high diagnostic efficiency (94.8%) but only 16.5% of embryos were suitable for transfer.
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