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Updated: Sep 1, 2025

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Pre-implantation genetic testing for Marfan syndrome using mini-sequencing.

Sirivipa Piyamongkol1, Krit Makonkawkeyoon2, Vorasuk Shotelersuk3

  • 1Department of Pharmaceutical Sciences, Faculty of Pharmacy, Chiang Mai University, Chiang Mai, Thailand.

Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology
|August 16, 2022
PubMed
Summary

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This study presents a novel protocol for preimplantation genetic testing for monogenic disorders (PGT-M) in Marfan syndrome (MFS1). The developed method successfully identified unaffected embryos, leading to a healthy pregnancy and birth for a family with a history of MFS1.

Area of Science:

  • Reproductive Medicine
  • Medical Genetics
  • Molecular Biology

Background:

  • Marfan syndrome (MFS1) is an autosomal dominant disorder characterized by aortopathy and a risk of fatal aortic dissection.
  • Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative to invasive prenatal diagnosis for couples at risk of transmitting MFS1.
  • Previous PGT-M studies for MFS1 primarily utilized microsatellite-based linkage analysis, with limited detailed descriptions of sequencing-based techniques.

Purpose of the Study:

  • To perform clinical PGT-M in a family with a two-generation history of Marfan syndrome.
  • To develop and validate a novel PGT-M protocol for MFS1 using multiplex fluorescent PCR and mini-sequencing.
  • To enable couples with a family history of MFS1 to have a healthy child.

Main Methods:

Keywords:
Embryo selectionMarfan syndromemini-sequencingmultiplex fluorescent PCRpre-implantation genetic testing for monogenic disease (PGT-M)

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  • Whole-exome sequencing (WES) was employed to identify the specific MFS1 mutation.
  • A multiplex fluorescent PCR and mini-sequencing protocol was developed for single-cell embryo analysis.
  • Microsatellite-based linkage analysis was used for confirmation and contamination detection.

Main Results:

  • Ten blastocysts underwent PGT-M, with mini-sequencing identifying four unaffected and six affected embryos.
  • Microsatellite analysis confirmed the mutation status of all tested embryos.
  • A successful pregnancy was achieved, and invasive prenatal diagnosis confirmed the healthy genotype of the baby.

Conclusions:

  • The developed PGT-M protocol, combining WES, multiplex fluorescent PCR, mini-sequencing, and microsatellite analysis, effectively assists families with Marfan syndrome.
  • This study demonstrates the successful application of embryo selection for MFS1, allowing couples to conceive with confidence.
  • The described mini-sequencing protocol offers a potentially universal approach for PGT-M of various genetic mutations.