Concise History of Prenatal Diagnostic Service in Russia

2017 ◽  
pp. 233-252
Author(s):  
Vladislav S. Baranov
Keyword(s):  
Diagnostic Service ◽  
Prenatal Diagnostic ◽  
History Of

scholarly journals Factores de riesgo genético y diagnóstico prenatal

2021 ◽  
Vol 81 (03) ◽  
pp. 209-225
Author(s):  
Alisandra Morales de Machín ◽  
Karelis Urdaneta ◽  
Lisbeth Borjas ◽  
Karile Méndez ◽  
Enrique Machín ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Counseling ◽  
Genetic Risk ◽  
Diagnostic Procedures ◽  
Genetic Risk Factors ◽  
Genetic Risk Factor ◽  
Congenital Defects ◽  
Prenatal Diagnostic ◽  
History Of

Objective: To identify genetic risk factors and frequency and to describe congenital defects of the fetus. Methods: The research was conducted at the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. We studied patients who attend to the prenatal genetic clinic. According to the Genetic risk factors Identified, it indicated different prenatal diagnostic procedures: fetal echography, fetal echocardiography, triple maternal serum marker, amniocentesis for fetal karyotype and molecular analysis. Results: We included 568 patients. 79.05% of the total showed only one genetic risk factor and the 20.95% two or more. The advanced maternal age was the most frequent genetic risk factor found (40.85%), followed by first-degree family history with a congenital defect (35.21%), abnormal fetal echography (13.73%), exposure to teratogenic agents (10.39%), history of recurrent abortion (7.04%), history of fetal death (4.22%), consanguinity (1.93%), and history of neonatal death (1.76%). They were diagnosed 101 fetuses with congenital defects, one balanced translocation, two fetal deaths and 26 spontaneous abortions. Conclusion: The genetic risk factors identification, served as a starting point to indicate prenatal diagnostic procedures allowed a health evaluation of the fetus and adequate genetic counseling. Key words: Prenatal diagnosis, Risk factors, Genetic counseling.

scholarly journals Applications of Amniotic Membrane and Fluid in Stem Cell Biology and Regenerative Medicine

2012 ◽  
Vol 2012 ◽  
pp. 1-13 ◽  
Author(s):  
Kerry Rennie ◽  
Andrée Gruslin ◽  
Markus Hengstschläger ◽  
Duanqing Pei ◽  
Jinglei Cai ◽  
...  
Keyword(s):  
Stem Cell ◽  
Regenerative Medicine ◽  
Amniotic Membrane ◽  
Cell Biology ◽  
Cell Types ◽  
Prenatal Diagnostic ◽  
History Of ◽  
Diagnostic Applications ◽  
History Of Use ◽  
Paracrine Actions

The amniotic membrane (AM) and amniotic fluid (AF) have a long history of use in surgical and prenatal diagnostic applications, respectively. In addition, the discovery of cell populations in AM and AF which are widely accessible, nontumorigenic and capable of differentiating into a variety of cell types has stimulated a flurry of research aimed at characterizing the cells and evaluating their potential utility in regenerative medicine. While a major focus of research has been the use of amniotic membrane and fluid in tissue engineering and cell replacement, AM- and AF-derived cells may also have capabilities in protecting and stimulating the repair of injured tissues via paracrine actions, and acting as vectors for biodelivery of exogenous factors to treat injury and diseases. Much progress has been made since the discovery of AM and AF cells with stem cell characteristics nearly a decade ago, but there remain a number of problematic issues stemming from the inherent heterogeneity of these cells as well as inconsistencies in isolation and culturing methods which must be addressed to advance the field towards the development of cell-based therapies. Here, we provide an overview of the recent progress and future perspectives in the use of AM- and AF-derived cells for therapeutic applications.

scholarly journals Retrospective analysis of prenatal invasive diagnostic procedures in a tertiary center

2021 ◽  
Vol 3 (1) ◽  
pp. 1-5
Author(s):  
Zeynep Gedik Özköse ◽  
Süleyman Cemil Oğlak ◽  
Mustafa Behram ◽  
Fatma Ölmez ◽  
Sema Süzen Çaypınar ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Invasive Procedure ◽  
Normal Karyotype ◽  
Diagnostic Procedures ◽  
Test Results ◽  
Prenatal Diagnostic ◽  
Tertiary Center ◽  
History Of ◽  
Gestational Week ◽  
Us Findings

Objective: This study aimed to analyze the indications and outcomes of prenatal invasive diagnostic procedures performed in a single tertiary center. Materials and Methods: The invasive procedure indications and karyotype results of 1666 pregnant women who underwent prenatal invasive procedures between March 2016 and November 2018 were retrospectively analyzed. The indications and results of prenatal invasive diagnostic procedures were recorded. Results: Amniocentesis (AS) was performed to 1060 (63.6%) patients, corion villus sampling (CVS) to 299 (17.9%), and cordocentesis (CS) to 307 (18.4%) patients. Among the prenatal invasive procedure indications, the most frequent indication was abnormal ultrasound (US) findings, with a rate of 48.3% (n= 805). A normal karyotype was detected in 85% (n= 1416) of the cases, and chromosomal abnormality was detected in 12.2% (n= 204) of the cases. Abnormal karyotype results were found in 111 (10.5%) of 1060 patients who underwent AS, 87 (29.1%) of 299 patients who underwent CVS, and 52 (16.9%) of 307 patients who underwent CS. Among the numerical chromosomal abnormalities, trisomy 21 was the most common abnormality with a rate of 46% (94/204), while inversions were the most common abnormality of structural chromosomal abnormalities at 8.8% (18/204). Conclusion: The results of the current study show that AS is the most common prenatal diagnostic invasive procedure. We obtained the highest fetal chromosomal anomaly rate in patients who experienced CVS. Abnormal US findings were the most common prenatal invasive diagnostic procedure indication in our study. Choosing the most appropriate invasive procedure is related to the obstetricians' experience, medical history of the patient, the gestational week at admission, maternal prenatal serum screening test results, and abnormal US findings.

scholarly journals More than sample providers: how genetic researchers in Pakistan mobilized a prenatal diagnostic service for thalassemia

BioSocieties ◽  
2021 ◽  
Author(s):  
Zainab Afshan Sheikh ◽  
Ayo Wahlberg
Keyword(s):  
Unmet Needs ◽  
Genetic Research ◽  
Disease Prevalence ◽  
Medical Genetics ◽  
Global System ◽  
Diagnostic Service ◽  
Medical Genomics ◽  
Research Collaborations ◽  
Prenatal Diagnostic ◽  
Relevant Field

AbstractWhile unequally resourced partners from the so-called global South are often considered ‘mere sample providers’ in larger international genomics collaborations, in this paper, we show how they strategically work to mobilize their role in a global system of tissue exchange to deliver services for local communities. We unpack how a prenatal diagnostic service for thalassemia in Pakistan emerged out of the maneuvering efforts of internationally connected Pakistani researchers. By tracing the distributed capacities that emerged and circulated as they set about improving medical genetics in Pakistan, we outline some key conditions that led to the establishment of the service: first, the scale of unmet needs that geneticists faced when collecting data as part of their research that made medical genomics a relevant field; secondly, joint efforts between researchers and physicians that were engaged with the challenge of decreasing disease prevalence through diagnostics and abortion; and finally, the ways in which international research collaborations helped generate resources to improve medical genetics in Pakistan. To understand how genetic research and medicine is currently being developed in Pakistan, we need to ethnographically re-center our analyses in ways that allow us to identify the resourceful ways in which researchers maneuvre to secure locally relevant outcomes.

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