Correlation between fetal cranial nervous system malformation and chromosome abnormality
10.3760/cma.j.issn.2095-428X.2019.21.012
- VernacularTitle: 胎儿颅脑神经系统畸形与染色体异常相关性研究
- Author:
Xiaolei XIE
1
;
Fuguang LI
;
Weihe TAN
;
Suhuan TANG
;
Jiang TANG
;
Li WANG
;
Dandan WANG
Author Information
1. Prenatal Diagnosis Center, Qingyuan People′s Hospital, the Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan 511518, Guangdong Province, China
- Publication Type:Journal Article
- Keywords:
Fetal cranial nervous malformation;
Chromosome karyotype;
Trisomy 18;
Early and middle pregnancy;
Choroid plexus cysts
- From:
Chinese Journal of Applied Clinical Pediatrics
2019;34(21):1649-1652
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the correlation between fetal cranial nervous system malformation and chromosome abnormality.
Methods:The pregnant women with fetal cerebral nervous system dysplasia were collected from January 2013 to August 2018 at the Prenatal Diagnostic Center of the Sixth Affiliated Hospital of Guangzhou Medical University.The fetus was diagnosed by ultrasonography and karyotype analysis.
Results:A total of 18 cases of abnormal karyotypes were detected from 85 patient samples, and the abnormal rates were 21.18%.Single cranial nervous system malformation was found in 47 cases, abnormal karyotypes in 4 cases, multiple system malformation in 38 cases, and abnormal karyotypes in 14 cases, and the abnormal karyotype rate of multiple system malformation was higher than that of single cranial nervous malformation (36.84% vs.8.51%, χ2=10.101, P=0.001 5). And the 88.89%(16/18 cases)of abnormal karyotypes were founded in the early and middle pregnancy (≤28 weeks). The abnormal karyotype detection rates of cranial nervous system malformation associated with cardiovascular, skeletal and limb, facial neck abnormalities were 58.82% (10/17 cases), 50.00% (6/12 cases) and 50.00% (9/18 cases), respectively.In the fetal phenotypes, the abnormal karyotype detection rates of choroid plexus cysts were up to 64.29%, followed by arachnoid cysts (50.00%), craniocerebral abnormalities (45.45%) and holoprosencephaly (36.36%).
Conclusions:Chromosomal aneuploidy or structural abnormalities can lead to abnormal development of the fetal cranial nervous system, in which the rates of abnormal karyotypes on fetal cranial nervous with cardiovascular malformation and choroid plexus cysts are the highest.
