Preimplantation genetic diagnosis in Marfan syndrome.

Abstract

The in vitro fertilization technology coupled with the ability to amplify DNA from a single cell has been used for the preimplantation genetic diagnosis of Marfan syndrome. An intragenic FBN1 gene marker has been used to track the inheritance of this disorder in a family. Marker genotyping was established following two rounds of amplification. Whenever possible, two blastomeres were separately assayed per embryo. The transfer of five embryos resulted in a singleton pregnancy and the birth of a full-term male infant.

• Authors: M W Kilpatrick, G L Harton, L A Phylactou, G Levinson, E F Fugger, J D Schulman, S H Black, P Tsipouras
• Journal: Fetal diagnosis and therapy (Fetal Diagn Ther) 1996 Nov-Dec Vol. 11 Issue 6 Pg. 402-6 ISSN: 1015-3837 [Print] Switzerland
• PMID: 9115627 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Extracellular Matrix Proteins
• FBN1 protein, human
• Fibrillin-1
• Fibrillins
• Microfilament Proteins
• DNA

Topics

• Blastomeres (chemistry)
• DNA (analysis)
• Embryonic Development
• Extracellular Matrix Proteins
• Female
• Fertilization in Vitro
• Fibrillin-1
• Fibrillins
• Genotype
• Haplotypes
• Humans
• Male
• Marfan Syndrome (diagnosis, genetics)
• Microfilament Proteins (genetics)
• Polymerase Chain Reaction
• Pregnancy
• Prenatal Diagnosis