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Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established.
This article was published in the following journal.
Name: Arquivos brasileiros de cardiologia
To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES).
To evaluate the usefulness and incremental diagnostic yield of chromosomal microarray analysis (CMA) compared to standard karyotyping in fetuses with congenital anomalies of the kidney and urinary tra...
Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in...
The aim of this study is to review genetics of congenital heart disease (CHD) with a focus on clinical applications, genetic testing and clinical challenges.
This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better con...
Randomized Control Trial of Fetoscopic Endoluminal Tracheal Occlusion With a Balloon Versus Expectant Management During Pregnancy in Fetuses With Left Sided Congenital Diaphragmatic Hernia and Moderate Pulmonary Hypoplasia.
Isolated Congenital Diaphragmatic Hernia (CDH) can be diagnosed in the prenatal period, and remains associated with an 30 % chance of perinatal death and morbidity mainly because of pulmon...
The postnatal diagnosis of Long QT Syndrome (LQTS) is suggested by a prolonged QT interval on 12 lead electrocardiogram (ECG), strengthened by a positive family history and/or characterist...
BACKGROUND Myocarditis and pericarditis are inflammatory conditions of the heart commonly due to viral or autoimmune etiologies. Human CMV represents one of the leading causes of congenit...
This research study provides genetic testing to men with prostate cancer that has spread to other parts of the body (metastatic prostate cancer) and will look for inherited genetic mutatio...
Primary congenital glaucoma patients and their immediate relatives will undergo complete ophthalmic examination and an interview with a geneticist. A blood sample will be drown from all p...
Selective abortion of one or more embryos or fetuses in a multiple gestation pregnancy. The usual goal is to improve the outcome for the remaining embryos or fetuses.
An inbred strain of mouse that is used as a general purpose research strain, for therapeutic drug testing, and for the genetic analysis of CARCINOGEN-induced COLON CANCER.
The condition of bearing two or more FETUSES simultaneously. (Stedman, 25th ed)
The process of bearing developing young (EMBRYOS or FETUSES) in utero in non-human mammals, beginning from FERTILIZATION to BIRTH.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Women's Health - key topics include breast cancer, pregnancy, menopause, stroke Follow and track Women's Health News on BioPortfolio: Women's Health News RSS Women'...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...