scholarly journals Congenital heart defects: is it time to explore maternal blood for a non-invasive genetic screening test?

2014 ◽  
Vol 43 (1) ◽  
pp. 109-110 ◽  
Author(s):  
A. Farina ◽  
D. Arcelli
Keyword(s):  
Congenital Heart Defects ◽  
Genetic Screening ◽  
Screening Test ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Blood ◽  
Non Invasive

scholarly journals Pulse Oximetry During the First 24 Hours as a Screening Tool For Congenital Heart Defects

2017 ◽  
Vol 3 (1) ◽  
pp. 12-17
Author(s):  
Mihaela Patriciu ◽  
Andreea Avasiloaiei ◽  
Mihaela Moscalu ◽  
Maria Stamatin
Keyword(s):  
Oxygen Saturation ◽  
Pulse Oximetry ◽  
Sensitivity And Specificity ◽  
Congenital Heart Defects ◽  
Screening Test ◽  
Congenital Heart ◽  
Heart Defects ◽  
Blood Oxygen ◽  
Blood Oxygen Saturation ◽  
Routine Pulse Oximetry

Abstract Introduction: Although screening for congenital heart defects (CHD) relies mainly on antenatal ultrasonography and clinical examination after birth, life-threatening cardiac malformations are often not diagnosed before the patient is discharged. Aim: To assess the use of routine pulse oximetry in the delivery room and at 24 hours postpartum, and to study its feasibility as a screening test for CHD. Material and Methods: In this prospective study, all infants born in “Cuza Voda” Maternity Hospital, Iasi, Romania, were enrolled over a thirteen-month period. Preductal oximetry was assessed during the first hour, and postductal oximetry was evaluated at twenty-four hours postpartum. Data were then analyzed to establish the sensitivity and specificity of pulse oximetry, as a screening test for CHD. Results: 5406 infants were included in the study, with a mean gestational age of 38.2 weeks and a mean birth weight of 3175 grams. During the first minute, blood oxygen saturation varied between 40% and 90% and at 24 hours of life, it ranged between 90% and 100%. Following oximetry assessment, 14 infants with critical CHD were identified. Blood oxygen saturation values in infants with CHD were lower throughout the entire period of evaluation. Pulse oximetry had good sensitivity and specificity at 1 hour (Se=87.5%, Sp=95.5%) and 24 hours (Se=92.5%, Sp=97.4%) for the diagnosis of CHD. Blood oxygen saturation values at one minute, 1 hour and 24 hours are strong discriminative parameters for the early diagnosis of CHD. Conclusion: Routine pulse oximetry during the first 24 hours postpartum represents an early indicator of CHD to facilitate timely intervention. Pulse oximetry provides excellent sensitivity and specificity and has tremendous potential as a standard screening test for CHD during the first 24 hours of life.

scholarly journals Associations between toxic and essential trace elements in maternal blood and fetal congenital heart defects

2017 ◽  
Vol 106 ◽  
pp. 127-134 ◽  
Author(s):  
Yanqiu Ou ◽  
Michael S. Bloom ◽  
Zhiqiang Nie ◽  
Fengzhen Han ◽  
Jinzhuang Mai ◽  
...  
Keyword(s):  
Trace Elements ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Blood ◽  
Essential Trace Elements

scholarly journals Determination of urinary d-/l-arabinitol ratios as a biomarker for invasive candidiasis in children with cardiac diseases

2010 ◽  
Vol 59 (12) ◽  
pp. 1490-1496 ◽  
Author(s):  
Teresa J. Stradomska ◽  
Dorota Sobielarska ◽  
Zbigniew Mielniczuk ◽  
Dorota Jagiełłowicz ◽  
Małgorzata Syczewska ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Congenital Heart Defects ◽  
Invasive Candidiasis ◽  
Predictive Value ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Diseases ◽  
Non Invasive ◽  
Antifungal Chemotherapy

A non-invasive, non-culture-based method of determining urinary d-/l-arabinitol (d-/l-ARA) ratios was investigated as a tool for the diagnosis of invasive candidiasis in nosocomial paediatric infection cases. The study encompassed 138 children aged 4 days to 16 years (mean±sd=1.6±4.2 years) with congenital heart defects (91.4 %) or with rhythm disorders or circulatory failure (8.6 %). ARA enantiomers were detected by GC using an electron capture detector. Positive d-/l-ARA ratios were found for 11/11 patients with proven candidiasis and 17/19 patients with clinically suspected invasive candidiasis. Thirty children were undergoing antifungal chemotherapy. d-/l-ARA ratios (mean±sd) were 2.601±0.544 in hospitalized cardiac patients without fungal infection and 5.120±1.253 in those receiving antifungal therapy (P<0.001). The sensitivity of the method was 100 %, the specificity 97.2 %, the positive predictive value was 78.6 % and the negative predictive value was 100 %.

Identification of maternal serum microRNAs as novel non-invasive biomarkers for prenatal detection of fetal congenital heart defects

2013 ◽  
Vol 424 ◽  
pp. 66-72 ◽  
Author(s):  
Shasha Zhu ◽  
Li Cao ◽  
Jingai Zhu ◽  
Liping Kong ◽  
Junxia Jin ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Serum ◽  
Non Invasive ◽  
Prenatal Detection ◽  
Serum Micrornas

scholarly journals Expression profile of maternal circulating microRNAs as non-invasive biomarkers for prenatal diagnosis of congenital heart defects

2019 ◽  
Vol 109 ◽  
pp. 823-830 ◽  
Author(s):  
Hui Gu ◽  
Lizhu Chen ◽  
Jia Xue ◽  
Tianchu Huang ◽  
Xiaowei Wei ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Expression Profile ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Circulating Micrornas ◽  
Non Invasive

Pulse oximetry as a screening test for congenital heart defects in newborn infants: the pulseox test accuracy study

2011 ◽  
Vol 96 (Supplement 1) ◽  
pp. Fa3-Fa3
Author(s):  
L. J. Middleton ◽  
A. K. Ewer ◽  
A. Bhoyar ◽  
A. T. Furmston ◽  
J. P. Daniels ◽  
...  
Keyword(s):  
Pulse Oximetry ◽  
Congenital Heart Defects ◽  
Screening Test ◽  
Congenital Heart ◽  
Heart Defects ◽  
Newborn Infants ◽  
Test Accuracy ◽  
Accuracy Study

Using chromosomal and single-gene non-invasive prenatal testing to identify the cause of congenital heart defects

2021 ◽  
Vol 132 ◽  
pp. S319-S320
Author(s):  
Mark Hajjar ◽  
Pooja Mohan ◽  
Jacob Wulff ◽  
Melissa Maisenbacher ◽  
J. Dianne Keen-Kim ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Single Gene ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals MATERNAL BLOOD TRACE ELEMENT LEVELS AND RISKS FOR FETAL CONGENITAL HEART DEFECTS IN GUANGDONG, CHINA

2017 ◽  
Vol 69 (11) ◽  
pp. 576
Author(s):  
Yanqiu Ou ◽  
Michael S. Bloom ◽  
Liu Xiaoqing ◽  
Lin Shao
Keyword(s):  
Trace Element ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Blood ◽  
Trace Element Levels
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