Prenatal Diagnosis of 18q Deletion Syndrome
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.20230421.001
- VernacularTitle:18q缺失综合征产前诊断方法
- Author:
Li MA
1
;
Lei LI
2
;
Hong WU
1
;
Yong-ming LIU
1
;
Xin YANG
1
Author Information
1. Center for Laboratory Diagnosis， Yantai Yuhuangding Hospital Affiliated to Medical College of Qingdao University， Yantai 264000， China
2. Obstetrics Department， Yantai Yuhuangding Hospital Affiliated to Medical College of Qingdao University， Yantai 264000， China
- Publication Type:Journal Article
- Keywords:
18q deletion syndrome;
non-invasive prenatal testing （NIPT）;
genetic counseling
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2023;44(4):677-683
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo explore the prenatal diagnostic methods of 18q deletion syndrome and improve understanding on the value of non-invasive prenatal testing （NIPT） in prenatal diagnosis of 18q deletion syndrome. Methods18q deletion syndrome was detected by conventional methods such as serological screening， ultrasonic imaging examination， chromosome karyotype analyses of both amniotic fluid cells and parental peripheral blood， and molecular biological techniques including NIPT， chromosomal microarray analysis （CMA） and copy number variation sequencing （CNV-Seq）. Genetic counseling was conducted based on these examination results. ResultsNIPT identified a 24 MB deletion on the chromosome 18 which contained 17 genes including BCL2 by karyotype analysis of amniotic fluid cells and CMA. Further ultrasonic imaging examination confirmed the diagnosis of 18q deletion syndrome and karyotype analysis of parental peripheral blood revealed a de novo deletion mutation. ConclusionsInterventional prenatal diagnosis is an integral standard for the diagnosis of 18q deletion syndrome. NIPT， as an important screening test in middle pregnancy， can indicate the early possible chromosome segment deletion and reduce the time and economic cost when no abnormality is found in ultrasonic imaging.
