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Genetic Analysis of a Fetus with 14q11.2 Microdeletion in Ultrasound Abnormalities.
- Source :
- Clinical Laboratory; 2024, Vol. 70 Issue 9, p1711-1717, 7p
- Publication Year :
- 2024
-
Abstract
- Background: This study aimed to explore the genetic basis of a fetus with ultrasound indicating a thickening of the nuchal translucency (NT) and a choroid plexus cyst. Methods: Fetal amniotic fluid and peripheral blood were collected for a G-banding karyotype analysis and single nucleotide polymorphism array (SNP-array) detection. Results: The chromosome karyotypes of the fetus and its parents were normal. SNP-array showed the fetus had carried 277 kb microdeletion at 14q11.2, which was a new mutation. After the induced abortion, the fetus was diagnosed with macrocephaly. Conclusions: A prenatal diagnosis of a fetus with 14q11.2 microdeletion-induced intrauterine growth retardation was confirmed, which has provided guidance for the subsequent pregnancy. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14336510
- Volume :
- 70
- Issue :
- 9
- Database :
- Complementary Index
- Journal :
- Clinical Laboratory
- Publication Type :
- Academic Journal
- Accession number :
- 179679510
- Full Text :
- https://doi.org/10.7754/Clin.Lab.2024.240335