Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations.

doi:10.1038/nm0895-798

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Article

Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations.

Nature medicine - 1 Aug 1995

Eldadah Z A, Grifo J A, Dietz H C

Abstract excerpt

Among the many clinical applications of the polymerase chain reaction (PCR) is its potential use in preimplantation diagnosis of genetic disorders. Performing PCR on single blastomeres from early cleavage stage (six- to eight-cell) human embryos should, in principle, enable reliable determination of disease status for certain inherited conditions. However, reports of misdiagnoses using this technique have...

Topics

Artifacts
Base Sequence
Blastocyst
Chorionic Villi Sampling
Female
Fibrillins
Fibroblasts
Genotype
Heterozygote
Humans
Male
Marfan Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microfilament Proteins

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Pregnancy

Prenatal Diagnosis

Source

Open in PubMed

Identifiers

PMID: 7585183
DOI: 10.1038/nm0895-798

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7585183-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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