scholarly journals Fetal Laboratory Medicine: On the Frontier of Maternal–Fetal Medicine

2012 ◽  
Vol 58 (2) ◽  
pp. 337-352 ◽  
Author(s):  
Sharon M Geaghan
Keyword(s):  
Technology Implementation ◽  
Clinical Decision Making ◽  
Care Delivery ◽  
Sex Selection ◽  
Blood Analysis ◽  
Diagnostic Methods ◽  
Therapeutic Interventions ◽  
Ethical Guidelines ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Abstract BACKGROUND Emerging antenatal interventions and care delivery to the fetus require diagnostic support, including laboratory technologies, appropriate methodologies, establishment of special algorithms, and interpretative guidelines for clinical decision-making. CONTENT Fetal diagnostic and therapeutic interventions vary in invasiveness and are associated with a spectrum of risks and benefits. Fetal laboratory assessments are well served by miniaturized diagnostic methods for blood analysis. Expedited turnaround times are mandatory to support invasive interventions such as cordocentesis and intrauterine transfusions. Health-associated reference intervals are required for fetal test interpretation. Fetal blood sampling by cordocentesis carries substantial risk and is therefore performed only when fetal health is impaired, or at risk. When the suspected pathology is not confirmed, however, normative fetal data can be collected. Strategies for assurance of sample integrity from cordocenteses and confirmation of fetal origin are described. After birth, definitive assessment of prenatal environmental and/or drug exposures to the fetus can be retrospectively assessed by analysis of meconium, hair, and other alternative matrices. A rapidly advancing technology for fetal assessment is the use of fetal laboratory diagnostic techniques that use cell-free fetal DNA collected from maternal plasma, and genetic analysis based on molecular counting techniques. SUMMARY Developmental changes in fetal biochemical and hematologic parameters in health and disease are continually delineated by analysis of our collective outcome-based experience. Noninvasive technologies for fetal evaluation are realizing the promise of lower risk yet robust diagnostics; examples include sampling and analysis of free fetal DNA from maternal blood, and analysis of fetal products accessible at maternal sites. Application of diagnostic technologies for nonmedical purposes (e.g., sex selection) underscores the importance of ethical guidelines for new technology implementation.

Diagnostic Value of Non-Invasive Prenatal Screening of β-thalassemia by Cell Free Fetal DNA and Fetal NRBC

2019 ◽  
Vol 19 (2) ◽  
pp. 105-111
Author(s):  
Nadia Shafei ◽  
Mohammad Saeed Hakhamaneshi ◽  
Massoud Houshmand ◽  
Siavash Gerayeshnejad ◽  
Fardin Fathi ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Multiple Displacement Amplification ◽  
Diagnostic Value ◽  
Diagnostic Methods ◽  
Beta Thalassemia ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
Invasive Techniques

Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most prenatal diagnostic methods are the invasive techniques that have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. Objective: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community. Methods: 10 ml of blood was taken in two k3EDTA tube from 32 pregnant women (mean of gestational age = 11 weeks), who themselves and their husbands had minor thalassemia. One tube was used to enrich NRBC and other was used for cff-DNA extraction. NRBCs were isolated by MACS method and immunohistochemistry; the genome of stained cells was amplified by multiple displacement amplification (MDA) procedure. These products were used as template in b-globin segments PCR. cff-DNA was extracted by THP method and 300 bp areas were recovered from the agarose gel as fetus DNA. These DNA were used as template in touch down PCR to amplify b-globin gen. The amplified b-globin segments were sequenced and the results compared with CVS resul. Results: The data showed that sensitivity and specificity of thalassemia diagnosis by NRBC were 100% and 92% respectively and sensitivity and specificity of thalassemia diagnosis by cff-DNA were 100% and 84% respectively. Conclusion: These methods with high sensitivity can be used as screening test but due to their lower specificity than CVS, they cannot be used as diagnostic test.

scholarly journals Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis

2006 ◽  
Vol 14 (6) ◽  
pp. 964-967 ◽  
Author(s):  
Ester Silveira Ramos
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Plasma ◽  
Sex Selection ◽  
Maternal Circulation ◽  
Fetal Sex ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
New Methodologies ◽  
Selection For ◽  
Early Abortion

The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. On the other hand, with the introduction of a technology that detects the fetal sex as early as at 6-8 weeks of gestation, there is the possibility of early abortion based on sex selection for social purposes. This implies an ethical discussion about the question. The introduction of new noninvasive techniques of prenatal diagnosis and the knowledge of the Nursing Team regarding new methodologies can be of great benefit to the mother and her children, and can help the Genetic Counseling of the families.

scholarly journals Effectiveness of a serious game addressing guideline adherence: cohort study with 1.5-year follow-up

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tobias Raupach ◽  
Insa de Temple ◽  
Angélina Middeke ◽  
Sven Anders ◽  
Caroline Morton ◽  
...  
Keyword(s):  
Effect Size ◽  
Clinical Decision Making ◽  
Hypertensive Crisis ◽  
Prospective Trial ◽  
Virtual Patient ◽  
Serious Game ◽  
Diagnostic Methods ◽  
Strong Impact ◽  
Training Phase

Abstract Background Patients presenting with acute shortness of breath and chest pain should be managed according to guideline recommendations. Serious games can be used to train clinical reasoning. However, only few studies have used outcomes beyond student satisfaction, and most of the published evidence is based on short-term follow-up. This study investigated the effectiveness of a digital simulation of an emergency ward regarding appropriate clinical decision-making. Methods In this prospective trial that ran from summer 2017 to winter 2018/19 at Göttingen Medical University Centre, a total of 178 students enrolled in either the fourth or the fifth year of undergraduate medical education took six 90-min sessions of playing a serious game (‘training phase’) in which they managed virtual patients presenting with various conditions. Learning outcome was assessed by analysing log-files of in-game activity (including choice of diagnostic methods, differential diagnosis and treatment initiation) with regard to history taking and patient management in three virtual patient cases: Non-ST segment elevation myocardial infarction (NSTEMI), pulmonary embolism (PE) and hypertensive crisis. Fourth-year students were followed up for 1.5 years, and their final performance was compared to the performance of students who had never been exposed to the game but had otherwise taken the same five-year undergraduate course. Results During the training phase, overall performance scores increased from 57.6 ± 1.1% to 65.5 ± 1.2% (p < 0.001; effect size 0.656). Performance remained stable over 1.5 years, and the final assessment revealed a strong impact of ever-exposure to the game on management scores (72.6 ± 1.2% vs. 63.5 ± 2.1%, p < 0.001; effect size 0.811). Pre-exposed students were more than twice as likely to correctly diagnose NSTEMI and PE and showed significantly greater adherence to guideline recommendations (e.g., troponin measurement and D-dimer testing in suspected PE). Conclusions The considerable difference observed between previously exposed and unexposed students suggests a long-term effect of using the game although retention of specific virtual patient cases rather than general principles might partially account for this effect. Thus, the game may foster the implementation of guideline recommendations.

scholarly journals Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 15
Author(s):  
Luigi Carbone ◽  
Federica Cariati ◽  
Laura Sarno ◽  
Alessandro Conforti ◽  
Francesca Bagnulo ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Common Causes ◽  
Future Challenges ◽  
Neurodevelopmental Impairment ◽  
Fetal Aneuploidies ◽  
Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

Inability to Detect Cell Free Fetal DNA in the Urine of Normal Pregnant Women nor in Those Affected by Preeclampsia Associated HELLP Syndrome

2003 ◽  
Vol 10 (8) ◽  
pp. 503-508 ◽  
Author(s):  
Ying Li ◽  
Xiao Yan Zhong ◽  
Anjeung Kang ◽  
Carolyn Troeger ◽  
Wolfgang Holzgreve ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Hellp Syndrome ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Down syndrome and cell-free fetal DNA in archived maternal serum

2002 ◽  
Vol 187 (5) ◽  
pp. 1217-1221 ◽  
Author(s):  
Thomas Lee ◽  
Erik S. LeShane ◽  
Geralyn M. Messerlian ◽  
Jacob A. Canick ◽  
Antonio Farina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Fetal Dna ◽  
Cell Free Fetal Dna
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