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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 tract (CAKUT).
This article was published in the following journal.
Name: Prenatal diagnosis
To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES).
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 karyotypin...
To examine chromosomal microarray analysis results in pregnancies with various ultrasonographic anomalies and to characterize the copy number variants in diverse fetal phenotypes.
The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using Chromosomal Microarray Analysis (CMA) for fetuses presenting with isolated or associated Intrauterine Growth Res...
Trisomy 13 or Patau syndrome (PS) is a well-known aneuploidy characterized by a polymalformative syndrome. We described a large series of fetuses with PS and compared them with cases described in the ...
The purpose of this prospective cohort study is to build a large platform that includes clinical information (prenatal diagnosis and postnatal follow-up data) and biological specimen banks...
This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study c...
This research concerns the contribution of a new examination, high-throughput exome sequencing, in the diagnosis of the cause of polymalformative fetal syndromes. With currently available ...
1. PHACE syndrome(OMIM database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital ...
Congenital lower urinary tract obstruction (LUTO) is a heterogeneous group of congenital anomalies that lead bladder outlet obstruction. If a complete obstruction is present, the perinatal...
The simultaneous analysis, on a microchip, of multiple samples or targets arranged in an array format.
Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES.
Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
A DNA microarray or biochip is a collection of microscopic DNA spots attached to a solid surface used to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome.
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...
Chronic kidney disease (CKD), also known as chronic renal disease, is a progressive loss in renal function over a period of months or years. The symptoms of worsening kidney function are non-specific, and might include feeling generally unwell and experi...