TY - JOUR
T1 - Fetal DNA in maternal plasma
T2 - A noninvasive tool for prenatal diagnosis of beta-thalassemia
AU - Galbiati, Silvia
AU - Brisci, Angela
AU - Damin, Francesco
AU - Gentilin, Barbara
AU - Curcio, Cristina
AU - Restagno, Gabriella
AU - Cremonesi, Laura
AU - Ferrari, Maurizio
PY - 2012/6
Y1 - 2012/6
N2 - Introduction: In pregnancy, the discovery of fetal DNA in maternal blood outlined new scenarios for noninvasive prenatal diagnosis of numerous fetal pathological conditions based on a new source of fetal genetic material. Tests on fetal DNA circulating in maternal plasma are expected to replace or reduce invasive procedures, such as chorionic villi sampling and amniocentesis, that are typically carried out late in pregnancy and pose a risk of miscarriage. Areas covered: Nevertheless, at present, no accurate and simple methods for noninvasive prenatal diagnosis of genetic diseases are available, thus preventing a widespread clinical application. Expert opinion: Two highly different sensitive methodologies are reported both allowing the identification of fetal paternally inherited mutations in maternal plasma DNA during the first trimester of pregnancy in a clinically relevant genetic disease. The first one includes mutant enrichment amplification protocols either based on the use of PNA (peptide nucleic acids) or on CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR). In the second approach, an extremely sensitive microarray substrates are exploited which allows the detection of fetal mutated alleles even without the need of any enrichment strategy. Beta-thalassemia has been chosen as a model of clinically relevant genetic disease.
AB - Introduction: In pregnancy, the discovery of fetal DNA in maternal blood outlined new scenarios for noninvasive prenatal diagnosis of numerous fetal pathological conditions based on a new source of fetal genetic material. Tests on fetal DNA circulating in maternal plasma are expected to replace or reduce invasive procedures, such as chorionic villi sampling and amniocentesis, that are typically carried out late in pregnancy and pose a risk of miscarriage. Areas covered: Nevertheless, at present, no accurate and simple methods for noninvasive prenatal diagnosis of genetic diseases are available, thus preventing a widespread clinical application. Expert opinion: Two highly different sensitive methodologies are reported both allowing the identification of fetal paternally inherited mutations in maternal plasma DNA during the first trimester of pregnancy in a clinically relevant genetic disease. The first one includes mutant enrichment amplification protocols either based on the use of PNA (peptide nucleic acids) or on CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR). In the second approach, an extremely sensitive microarray substrates are exploited which allows the detection of fetal mutated alleles even without the need of any enrichment strategy. Beta-thalassemia has been chosen as a model of clinically relevant genetic disease.
KW - Beta-thalassemia
KW - COLD-PCR
KW - Fetal DNA in maternal plasma
KW - Microarray
KW - Noninvasive prenatal diagnosis
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U2 - 10.1517/14712598.2012.677428
DO - 10.1517/14712598.2012.677428
M3 - Article
C2 - 22506923
AN - SCOPUS:84861421171
VL - 12
JO - Expert Opinion on Biological Therapy
JF - Expert Opinion on Biological Therapy
SN - 1471-2598
IS - SUPPL. 1
ER -