Case Reports
doi: 10.1016/S0140-6736(00)02767-7.
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
- PMID: 11030304
- DOI: 10.1016/S0140-6736(00)02767-7
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Case Reports
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
Lancet.
.
Abstract
Achondroplasia is a short-limb disorder caused by a point mutation in a single gene. To diagnose such a disorder prenatally requires the use of invasive procedures such as amniocentesis. However, using PCR and restriction fragment length polymorphism analysis, we were able to detect the mutation in the plasma of a woman carrying a fetus suspected of having achondroplasia. The detection of a fetus-derived mutant gene from maternal plasma may therefore permit non-invasive prenatal diagnosis of single-gene disorders.
Comment in
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Prenatal identification of fetal genetic traits.Lancet. 2001 Jan 27;357(9252):310-1. doi: 10.1016/S0140-6736(05)71754-2. Lancet. 2001. PMID: 11214156 No abstract available.
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