scholarly journals Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

2016 ◽  
Vol 4 (6) ◽  
pp. 634-640 ◽  
Author(s):  
Giuseppe Calabrese ◽  
Donatella Fantasia ◽  
Melissa Alfonsi ◽  
Elisena Morizio ◽  
Claudio Celentano ◽  
...  
2015 ◽  
Vol 40 (1) ◽  
pp. 54-58 ◽  
Author(s):  
Jacob Mørup Schlütter ◽  
Ida Kirkegaard ◽  
Anne Sigaard Ferreira ◽  
Lotte Hatt ◽  
Britta Christensen ◽  
...  

Introduction: Fetal cells in maternal blood may be used for noninvasive prenatal diagnostics, although their low number is a challenge. This study's objectives were to evaluate whether physical activity, transabdominal and transvaginal ultrasound scans of the uterus, as well as overnight or day-to-day variation affect the number of isolated fetal cells, more specifically the presumed endovascular trophoblast (pEVT). Material and Methods: In each of 3 different experiments, 10 normal singleton pregnant women (gestational age 10+4-14+4 weeks) participated. The number of pEVTs was assessed in 30-36 ml blood using specific markers for enrichment and identification. Results: The number of pEVTs increased overnight (p = 0.001) from a median of 1.5 to 3.5 and even further to a median of 6.0 after 30 min of physical activity (p = 0.04) but was not affected by transabdominal and transvaginal ultrasound scans. Repeated sampling showed that the interindividual variation of pEVTs was higher than the intraindividual variation (p < 0.001). However, even in pregnant women with a consistently low number of pEVTs, isolation of the pEVTs for prenatal diagnoses was possible in all cases by doing 2 separate blood samplings a few days apart. Discussion: The number of pEVTs identified in maternal blood can be increased by presampling conditions or repeated sampling.


2011 ◽  
Vol 82 (2) ◽  
pp. 131-139 ◽  
Author(s):  
G Calabrese ◽  
M Baldi ◽  
D Fantasia ◽  
M Teresa Sessa ◽  
M Kalantar ◽  
...  

2005 ◽  
Vol 16 (2) ◽  
pp. 151-177 ◽  
Author(s):  
ALEC McEWAN

Schmorl is generally credited with being the first to report finding fetal cells in maternal blood. In 1893 he identified trophoblasts in the pulmonary circulation of women who had died of eclampsia. Years later, in 1969, Walnowska identified Y chromosomes in lymphocytes isolated from the blood of pregnant women carrying male fetuses and this was repeated by Herzenberg in 1979 in white blood cells recognised as fetal by their surface HLA-A2 expression. Other sporadic reports followed but not until the 1990's did investigation into harvesting fetal cells from maternal blood begin in earnest. The aim of this article is to review the progress made in isolating and analysing these cells for the purposes of prenatal diagnosis.


Author(s):  
Karuna R. M. van der Meij ◽  
Annabel Njio ◽  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Mireille N. Bekker ◽  
...  

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.


2021 ◽  
Vol 22 (4) ◽  
pp. 2001
Author(s):  
Silvia Spena ◽  
Chiara Cordiglieri ◽  
Isabella Garagiola ◽  
Flora Peyvandi

Hemophilia is an X-linked recessive bleeding disorder. In pregnant women carrier of hemophilia, the fetal sex can be determined by non-invasive analysis of fetal DNA circulating in the maternal blood. However, in case of a male fetus, conventional invasive procedures are required for the diagnosis of hemophilia. Fetal cells, circulating in the maternal bloodstream, are an ideal target for a safe non-invasive prenatal diagnosis. Nevertheless, the small number of cells and the lack of specific fetal markers have been the most limiting factors for their isolation. We aimed to develop monoclonal antibodies (mAbs) against the ribosomal protein RPS4Y1 expressed in male cells. By Western blotting, immunoprecipitation and immunofluorescence analyses performed on cell lysates from male human hepatoma (HepG2) and female human embryonic kidney (HEK293) we developed and characterized a specific monoclonal antibody against the native form of the male RPS4Y1 protein that can distinguish male from female cells. The availability of the RPS4Y1-targeting monoclonal antibody should facilitate the development of novel methods for the reliable isolation of male fetal cells from the maternal blood and their future use for non-invasive prenatal diagnosis of X-linked inherited disease such as hemophilia.


1999 ◽  
Vol 19 (4) ◽  
pp. 323-329 ◽  
Author(s):  
Mieke W. J. C. Jansen ◽  
Marieke von Lindern ◽  
Hartmut Beug ◽  
Helen Brandenburg ◽  
Hajo I. J. Wildschut ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document