Non-Invasive DNA Sampling for Molecular Analysis of Beta-Thalassemia: Amiable Alternative Sampling Methods with Accurate Results for Pediatric Patients

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.

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Comparing telemetry and fecal dna sampling methods to quantify survival and dispersal of juvenile pygmy rabbits

Wildlife Society Bulletin ◽

10.1002/wsb.521 ◽

2015 ◽

Vol 39 (2) ◽

pp. 413-421 ◽

Cited By ~ 2

Author(s):

Stephanie M. Demay ◽

Janet L. Rachlow ◽

Lisette P. Waits ◽

Penny A. Becker

Keyword(s):

Sampling Methods ◽

Fecal Dna ◽

Dna Sampling ◽

Pygmy Rabbits

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Multi-detector computed tomography (MDCT) as a diagnostic tool in assessment of thoracic aortic anomalies in pediatric patients

Egyptian Journal of Radiology and Nuclear Medicine ◽

10.1186/s43055-020-00399-5 ◽

2021 ◽

Vol 52 (1) ◽

Author(s):

Dawlat Nader Eltatawy ◽

Fatma Anas Elsharawy ◽

Aly Aly Elbarbary ◽

Raghda Ghonimy Elsheikh ◽

Manal Ezzat Badawy

Keyword(s):

Computed Tomography ◽

Aortic Arch ◽

Pediatric Patients ◽

Interrupted Aortic Arch ◽

Diagnostic Tools ◽

Non Invasive ◽

Branching Patterns ◽

Anatomic Variants ◽

Multi Detector Computed Tomography

Abstract Background A wide variety of congenital thoracic aortic variants and pathological anomalies could be assessed recently in diagnostic and interventional radiology. Multi-detector computed tomography (MDCT) is one of the most important non-invasive diagnostic tools for their detection. The aim of the study was to evaluate role of MDCT scanning for diagnosis of thoracic aortic anatomic variants and diseases in pediatric patients. Results Thirty patients (15 male and 15 female), mean age (8.49 ± 20.29 months) were diagnosed with different thoracic aortic anomalies by MDCT then confirmed by surgical results. MDCT was more sensitive than echocardiography in detection of hypo plastic arch, vascular rings, interrupted aortic arch anomalies, and aortic coarctation. Both MDCT and echocardiography showed 100% sensitivity in their detection of TGA, TOF, and PDA. MDCT detected 6 cases of right-sided aortic arch while echo missed 2 cases. Different aortic arch branching patterns and coronary origin were better demonstrated by MDCT. Conclusion 320-Multi-detector computed tomography is a reliable tool for optimal detection of thoracic aortic anomalies and preoperative planning.

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