Correlation between fetal cranial nervous system malformation and chromosome abnormality / 中华实用儿科临床杂志

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％,x2 =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.