scholarly journals Fetal microchimerism and prenatal diagnostic of genetic disorders

2016 ◽  
Vol 4 (1) ◽  
pp. 124-131
Author(s):  
T. Lutsenko
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Disorders ◽  
Genetic Material ◽  
Early Embryogenesis ◽  
Chorionic Villi ◽  
Fetal Cells ◽  
Non Invasive ◽  
Potential Source ◽  
Prenatal Diagnostic ◽  
Fetal Microchimerism

It is often require an invasive diagnosis based on karyotyping of cells from amniotic fluid, chorionic villi and cord blood in case of the fetus pathologies during pregnancy. The performance of these procedures has a risk of pregnancy complications or procedure-induced miscarriage. Therefore the investigators have nowadays been developing several approaches which would be capable to replace invasive diagnosis by alternative and safe non-invasive methods for detection of possible pregnancy pathology. Fetal microchimerism phenomenon and reliable strategies of fetal cells enrichment during early embryogenesis are reviewed. Fetal cells circulating in the peripheral blood of pregnant women has been described as a potential source of fetus genetic material in non-invasive prenatal diagnosis for chromosomal aberrations.

scholarly journals Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2239
Author(s):  
Giulia Sabbatinelli ◽  
Donatella Fantasia ◽  
Chiara Palka ◽  
Elisena Morizio ◽  
Melissa Alfonsi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Efficiency ◽  
Diagnostic Testing ◽  
Genetic Research ◽  
Clinical Genetics ◽  
Maternal Circulation ◽  
Fetal Cells ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Maternal Peripheral Blood

Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy.

scholarly journals Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein

2021 ◽  
Vol 22 (4) ◽  
pp. 2001
Author(s):  
Silvia Spena ◽  
Chiara Cordiglieri ◽  
Isabella Garagiola ◽  
Flora Peyvandi
Keyword(s):  
Monoclonal Antibody ◽  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Limiting Factors ◽  
Inherited Disease ◽  
Specific Monoclonal Antibody ◽  
Native Form ◽  
Fetal Cells ◽  
Non Invasive ◽  
Reliable Isolation

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.

Trophoblasts Isolated from the Maternal Circulation: In Vitro Expansion and Potential Application in Non-invasive Prenatal Diagnosis

2005 ◽  
Vol 53 (3) ◽  
pp. 337-339 ◽  
Author(s):  
Esther Guetta ◽  
Liat Gutstein-Abo ◽  
Gad Barkai
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Male Fetus ◽  
Maternal Circulation ◽  
Fetal Cells ◽  
Non Invasive ◽  
In Vitro Expansion ◽  
Feasible Option

Prenatal diagnosis based on rare fetal cells in maternal blood is currently not a feasible option. An effort was made to improve cell yields by targeting trophoblast cells. After sorting, the HLA-G-positive cell fraction was analyzed directly or after culture. In situ hybridization technology was applied to prove fetal cell source in samples from women carrying a male fetus and to predict gender in samples without previous knowledge of fetal sex. In vitro culture led to a significant increase in fetal cells and accurate gender prediction in 93% of these samples. This approach might be useful for non-invasive prenatal diagnosis.

Fetal cells in the uterine cervix: a source for early non-invasive prenatal diagnosis

2001 ◽  
Vol 21 (8) ◽  
pp. 619-621 ◽  
Author(s):  
Moshe D. Fejgin ◽  
Ron Diukman ◽  
Yael Cotton ◽  
Galina Weinstein ◽  
Aliza Amiel
Keyword(s):  
Prenatal Diagnosis ◽  
Uterine Cervix ◽  
Fetal Cells ◽  
Non Invasive

scholarly journals Invasive Prenatal Diagnosis: Chorionic Villus Sampling

2015 ◽  
Vol 9 (3) ◽  
pp. 293-306
Author(s):  
Panos Antsaklis ◽  
Aris Antsaklis ◽  
Michael Sindos ◽  
Fotodotis M Malamas
Keyword(s):  
Prenatal Diagnosis ◽  
Obstet Gynecol ◽  
Genetic Material ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling ◽  
Maternal Circulation ◽  
Maternal Cell ◽  
Non Invasive ◽  
Limb Reduction

ABSTRACT Chorionic villus sampling (CVS) is the method of choice for first trimester invasive prenatal diagnosis. In expert hands, it is nowadays considered as safe as amniocentesis and has the advantage of an earlier diagnosis. In this review, we describe the technique of the procedure, its indications and contraindications and the requirements concerning adequate training and optimum clinical practice. We also discuss issues concerning the safety of the procedure in singleton and multiple pregnancies, other complications and controversies, such as the association with limb reduction defects and pre-eclampsia, as well as diagnostic problems and dilemmas, such as maternal cell contamination and confined placental mosaicism. We also describe new and promising methods of non-invasive diagnosis, based on the isolation and analysis of fetal cells or cell-free fetal genetic material from the maternal circulation, that aim to replace the invasive methods of prenatal diagnosis in the future. How to cite this article Sindos M, Malamas FM, Antsaklis P, Antsaklis A. Invasive Prenatal Diagnosis: Chorionic Villus Sampling. Donald School J Ultrasound Obstet Gynecol 2015; 9(3):293-306.

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