Application of chromosomal analysis for 29 cases of fetuses with nasal bone absence or hypoplasia.

07:00 EST 20th November 2018 | BioPortfolio

Summary of "Application of chromosomal analysis for 29 cases of fetuses with nasal bone absence or hypoplasia."

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.


Journal Details

This article was published in the following journal.

Name: Zhonghua yi xue za zhi
ISSN: 0376-2491
Pages: 3532-3535


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Medical and Biotech [MESH] Definitions

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.

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