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"PRENATAL DISEASES"
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Accuracy of Prenatal Diagnosis of Congenital Heart Disease with Fetal Echocardiography
Objective: To study the diagnostic value of fetal echocardiography in detecting congenital heart disease (CHD) during the prenatal period. Methods: One hundred and ninety-seven pregnant women with a high risk of prenatal CHD of their fetuses were included in this study. The fetal heart was scanned with echocardiography, performing complete evaluation of the cardiac system. The prenatal echocardiographic findings were correlated with postnatal echocardiography results or autopsy findings, if the pregnancy was terminated or the fetus died in utero. Results: 10 of the 197 fetuses showed CHD by fetal echocardiography, whereas postnatal echocardiography and postmortem examination revealed cardiac abnormalities in 21 patients. Of those, 7 (41.1%) had the most common referral indication, i.e., cardiac abnormality, found on routine ultrasound examination. Specificity and sensitivity of fetal echocardiography for cardiac abnormalities were found to be 98 and 42%, respectively. The positive predictive value of echocardiography was 90% and the negative predictive value 93%. Conclusions: We conclude that fetal echocardiography is a reliable tool for prenatal diagnosis in experienced hands. Pediatric cardiologists should be more aware while performing fetal echocardiography in patients referred by obstetricians for CHD.
Journal Article
The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review
Prenatal diagnosis of hereditary diseases has substantially altered the way medical geneticists are helping families affected by genetic disorders. However, the risk of miscarriage and fear of invasive diagnostic procedures may discourage many couples from seeking prenatal diagnosis. With the discovery of maternal plasma cell-free fetal DNA, prenatal diagnosis has entered a new era of progress. Cell-free DNA is released during normal physiological functions as well as through the cell death programs of apoptosis and necrosis. It can be found in the plasma and other body fluids. Although this method has the advantage of being noninvasive, it is still rather expensive and requires advanced hardware and comprehensive data analysis. Promising implications of noninvasive prenatal diagnosis methods for the diagnosis of common trisomy disorders have paved the way for the development of more complicated assays of single-gene disorders. Relative mutation dosage and relative haplotype dosage are the most widely implemented assays for noninvasive prenatal diagnosis of single-gene disorders. However, each assay has its own advantages and disadvantages. Relative mutation dosage is based on the droplet digital polymerase chain reaction (PCR) technique which includes quantification features of real-time PCR assays. Relative haplotype dosage is based on next-generation sequencing that includes analysis of the maternal and paternal genome followed by sequencing of maternal plasma cell-free DNA. Co-amplification at a lower denaturation temperature PCR is another approach that is based on forming heteroduplexes between alleles to selectively amplify paternal mutations. In this review, we have described the most common noninvasive prenatal diagnosis approaches and compared their applications in genetic disorder diagnosis with different inheritance patterns. Key words: Cell-free nucleic acids, Prenatal diagnosis, Noninvasive prenatal testing, Single-gene diseases, Non-invasive techniques.
Journal Article
Intrauterine high-dose intravenous immunoglobulin therapy during pregnancy for women with a history of pregnancy ending in documented neonatal haemochromatosis (NH001): study protocol
IntroductionNeonatal haemochromatosis, considered to be a gestational alloimmune liver disease (NH-GALD), is a rare but serious disease that results in fulminant hepatic failure. The recurrence rate of NH-GALD in a subsequent infant of a mother with an affected infant is 70%–90%. Recently, antenatal maternal high-dose intravenous immunoglobulin (IVIG) therapy has been reported as being effective for preventing recurrence of NH-GALD in a subsequent infant. However, no clinical trial has been conducted to date.Methods and analysisThis is a multicentre open-label, single-arm study of antenatal maternal high-dose IVIG therapy in pregnant women with a history of documented NH in a previous offspring. The objective of this study is to evaluate the efficacy and safety of antenatal maternal high-dose IVIG therapy in preventing or reducing the severity of alloimmune injury to the fetal liver.Ethics and disseminationThe clinical trial is being performed in accordance with the Declaration of Helsinki. The trial protocol was approved by the Clinical Research Review Board at four hospitals. Before enrolment, written informed consent would be obtained from eligible pregnant women. The results are expected to be published in a scientific journal.Protocol version28 October 2024, V.8.0.Trial registration numberjRCT1091220353.
Journal Article