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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy
Reproductive BioMedicine Online, Volume 25, No. 5, Year 2012
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Description
This study sought to determine whether a reliable non-invasive prenatal diagnosis (NI-PND) of cystic fibrosis (CF) or spinal muscular atrophy (SMA) can be achieved through analysis of circulating fetal trophoblastic cells (CFTC). The kinetics of CFTC circulation were also studied. CFTC were isolated by isolation by size of epithelial tumour/trophoblastic cells at 9-11 weeks of gestation, before chorionic villus sampling (CVS), from the blood of 63 pregnant women at 25% risk for having a child affected by either CF (n = 32) or SMA (n = 31). Collected cells were laser-microdissected, short tandem repeat-genotyped to determine fetal origin and blindly assessed for mutation analysis. CFTC were independently analysed weekly (4-12 weeks of gestation) in 14 women who achieved pregnancy following IVF. Diagnostic results were compared with those obtained by CVS. All seven CF and seven SMA pregnancies carrying an affected fetus were correctly identified as well as non-affected pregnancies. CFTC provided 100% diagnostic sensitivity (95% CI 76.8-100%) and specificity (95% CI 92.7-100%) in these 63 consecutive pregnancies at risk for CF or SMA. CFTC were found to circulate from 5 weeks of gestation and can be used to develop an early and reliable approach for NI-PND. We sought to determine whether a reliable non-invasive prenatal diagnosis (NI-PND) of two rare genetic diseases - cystic fibrosis (CF) and spinal muscular atrophy (SMA) - can be achieved through analysis of circulating fetal trophoblastic cells (CFTC) in blood of pregnant women. We also studied the time of appearance and circulation of CFTC in maternal blood. CFTC were isolated from maternal blood by isolation by size of epithelial tumour/trophoblastic cells (ISET; an approach for cell isolation from blood) at 9-11 weeks of gestation before chorionic villus sampling (CVS) from the blood of 63 pregnant women at 25% risk for having a child affected by either CF (n = 32) or SMA (n = 31). Collected cells were analysed by genetic test to determine fetal origin and blindly assessed for mutation analysis. We independently analysed CFTC in maternal blood samples taken weekly (4-12 weeks of gestation) from 14 women who achieved pregnancy following IVF. Diagnostic results were compared with those obtained by CVS. All seven CF and seven SMA pregnancies carrying an affected fetus were correctly identified as well as non-affected pregnancies. CFTC provided 100% diagnostic sensitivity and specificity in these 63 consecutive pregnancies at risk for CF or SMA. CFTC were found to circulate from 5 weeks of gestation and can be used to develop an early and reliable approach for NI-PND. © 2012, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
Authors & Co-Authors
Mouawia, Hussein
France, Paris
Inserm
Lebanon, Beirut
Université Libanaise
Saker, Ali
France, Paris
Inserm
Syrian Arab Republic, Damascus
Damascus University
Jaïs, Jean Philippe
France, Paris
Hôpital Necker Enfants Malades
Benachi, Alexandra
France, Clamart
Hopital Antoine Beclere
Bussières, Laurence
France, Boulogne-billancourt
Hopital Ambroise Pare, Boulogne-billancourt
Lacour, Bernard
France, Paris
Hôpital Necker Enfants Malades
Bonnefont, Jean Paul
France, Paris
Hôpital Necker Enfants Malades
Frydman, Rénée F.
France, Clamart
Hopital Antoine Beclere
Simpson, Joe Leigh
United States, Miami
Florida International University
Paterlini-Bréchot, Patrizia
France, Paris
Inserm
France, Paris
Hôpital Necker Enfants Malades
Statistics
Citations: 85
Authors: 10
Affiliations: 7
Identifiers
Doi:
10.1016/j.rbmo.2012.08.002
ISSN:
14726483
e-ISSN:
14726491
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Female