Prenatal diagnosis
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Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples. ⋯ Non-invasive prenatal testing for trisomy 21, 18 and 13 has a very high specificity and sensitivity. Because of several biological phenomena, diagnostic invasive confirmation of abnormal results remains required. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.
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To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of chromosomal abnormalities in fetal growth restriction (FGR) cases. ⋯ Our study highlights the added value of CMA compared with karyotyping in evaluation of asymmetric FGR cases diagnosed during the second trimester without sonographic anomalies. © 2016 John Wiley & Sons, Ltd.
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Prenatal diagnosis of neonatal coarctation of the aorta (CoA) is challenging; there is a high false-positive rate, yet 60-80% are not identified prenatally. We aimed to identify novel fetal echocardiographic measures to improve prenatal identification of CoA. ⋯ Fetal LCSA, AAo-DAo angle, and TAo-DAo angles are novel measures that can differentiate between subjects with and without CoA.
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Clinical Trial
Improving spectral quality in fetal brain magnetic resonance spectroscopy using constructive averaging.
A common source of loss in signal-to-noise ratio (SNR) in fetal brain magnetic resonance spectroscopy (MRS) is from fetal movement and temporal magnetic field drift. We investigated the feasibility of using constructive averaging strategies for improving the spectral quality and recovering the SNR loss from these effects. ⋯ Our results demonstrate the feasibility of using constructive averaging for improving SNR in fetal MRS, which is likely to improve the characterization of fetal brain metabolites.