کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4209291 1280477 2008 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی ریوی و تنفسی
پیش نمایش صفحه اول مقاله
New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma
چکیده انگلیسی

BackgroundSince the presence of fetal DNA was discovered in maternal blood, different investigations have focused on non-invasive prenatal diagnosis. The analysis of fetal DNA in maternal plasma may allow the diagnosis of fetuses at risk of cystic fibrosis (CF) without any risk of fetal loss. Here, we present a new strategy for the detection of fetal mutations causing CF in maternal plasma.MethodsWe have used a mini-sequencing based method, the SNaPshot®, for fetal genotyping of the paternal mutation in maternal blood from three pregnancies at risk of CF.ResultsThe paternal mutation was detected in the analysis of plasma samples from cases 1 and 3 but not in case 2. Results of a posterior conventional molecular analysis of chorionic biopsies were in full agreement with those obtained from analysis of the plasma samples.ConclusionsThe knowledge about the inheritance of the paternal mutation in a fetus may avoid the conventional prenatal diagnosis in some cases. The SNaPshot® technique has been shown to be a sensitive and accurate method for the detection of fetal mutations in maternal plasma. Its ease handling, rapid and low cost makes it appropriate for a future routine clinical use in non-invasive prenatal diagnosis of cystic fibrosis.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Cystic Fibrosis - Volume 7, Issue 6, November 2008, Pages 505–510
نویسندگان
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