Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer

Fertil Steril. 1999 Jan;71(1):163-6. doi: 10.1016/s0015-0282(98)00412-9.


Objective: To develop and apply clinical preimplantation genetic diagnosis (PGD) for Marfan syndrome.

Design: Case report.

Setting: Centers for medical genetics and reproductive medicine in university hospitals.

Patient(s): One couple in which the husband was affected with Marfan syndrome.

Intervention(s): The couple underwent three intracytoplasmic sperm injection cycles.

Main outcome measure(s): The correct diagnosis was obtained for embryos in three PGD cycles.

Result(s): Although all the PGD cycles were followed by ET, no pregnancy ensued.

Conclusion(s): This assay can provide a reliable and accurate preimplantation diagnosis of Marfan syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blastomeres / ultrastructure
  • Cell Transformation, Viral
  • Female
  • Herpesvirus 4, Human
  • Humans
  • Male
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics*
  • Middle Aged
  • Polymerase Chain Reaction*
  • Preimplantation Diagnosis*
  • Sequence Analysis, DNA*
  • Spectrometry, Fluorescence