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To explore the chromosomal analysis for fetuses with nasal bone absence or hypoplasia. This was a retrospective study on 29 pregnancies nasal bone absence or hypoplasia which underwent prenatal diagnosis, including chorionic villi (CV), amniotic fluid or cordocentesis.The indication of the procedures and results were evaluated. Fifteen (51.7%, 15/29) of chromosome abnormities were diagnosed with indication of fetal nasal bone absence or hypoplasia, including eight with trisomy 21, two with trisomy 13, two with X chromosome aneuploidy and three with pathogenic copy number variations (CNVs) respectively.The incidence of chromosomal abnormalities in fetus with nasal bone hypoplasia (2/5, 40%) was lower than that in fetus with nasal bone absence (13/29, 54.2%). The incidence of chromosomal abnormalities in fetus with non-syndromic nasal bone absence or hypoplasia (4/13) was lower than that in fetus with syndromic nasal bone absence or hypoplasia (11/16). The incidence of chromosomal abnormalities in fetus with nasal bone absence or hypoplasia was higher and prenatal diagnosis was recommended for all types of the disease.For the fetus with nasal bone absence or hypoplasia, it is recommended to give priority to CNVs for prenatal diagnosis.
This article was published in the following journal.
Name: Zhonghua yi xue za zhi
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...
The purpose of our study was to compare the incidence of chromosomal abnormalities of fetuses with isolated fetal ventriculomegaly (VM) to that of fetuses with the sole risk factor of being born to mo...
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To analysis of fetal ultrasound soft index positive cases during 16-18 weeks of pregnancy, and to explore the relationship with chromosomal abnormalities in order to increase the positive rate of inva...
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...
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 ...
This is the first study with a real diagnostic and prognostic focus in prenatal. In addition to this innovative aspect, the identification of cryptic imbalances in fetuses with malformativ...
Hypothesis: There are 5 support buttresses in the complex osteocartilaginous architecture of the nose. 1. The membranous septum; 2. The Right nasal bone; 3. The Left n...
RATIONALE: Studying samples of bone marrow and blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related...
Optimise genetic screening of human embryos using higher resolution techniques
Application of allergens to the nasal mucosa. Interpretation includes observation of nasal symptoms, rhinoscopy, and rhinomanometry. Nasal provocation tests are used in the diagnosis of nasal hypersensitivity, including RHINITIS, ALLERGIC, SEASONAL.
The partition separating the two NASAL CAVITIES in the midplane. It is formed by the SEPTAL NASAL CARTILAGE, parts of skull bones (ETHMOID BONE; VOMER), and membranous parts.
Fluid obtained by irrigation or washout of the nasal cavity and NASAL MUCOSA. The resulting fluid is used in cytologic and immunologic assays of the nasal mucosa such as with the NASAL PROVOCATION TEST in the diagnosis of nasal hypersensitivity.
The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the NASAL BONE and the CHEEK BONE on each side of the face.
Air-filled spaces located within the bones around the NASAL CAVITY. They are extensions of the nasal cavity and lined by the ciliated NASAL MUCOSA. Each sinus is named for the cranial bone in which it is located, such as the ETHMOID SINUS; the FRONTAL SINUS; the MAXILLARY SINUS; and the SPHENOID SINUS.
Osteoporosis is a disease in which the bones become extremely porous, are subject to fracture, and heal slowly, occurring especially in women following menopause and often leading to curvature of the spine from vertebral collapse. Follow and track&n...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...