Early warning of low maternal unconjugated estriol level by prenatal screening for fetus with X-linked ichthyosis
10.3760/cma.j.cn112141-20220125-00043
- VernacularTitle:产前筛查孕妇游离雌三醇水平低下对X连锁鱼鳞病患儿的预警作用
- Author:
Hongyan LIU
1
;
Xi LI
;
Jia HUANG
;
Dairong FENG
;
Kan LIU
;
Jiahuan HE
;
Qiannan GUO
;
Keyue DING
;
Guiyu LOU
;
Yue WANG
Author Information
1. 河南省人民医院医学遗传研究所 郑州大学人民医院，郑州 450003
- Keywords:
Ichthyosis, X-linked;
Estriol;
Prenatal diagnosis;
Maternal serum screening tests;
Chromosomes, human, X;
Chromosome deletion;
Steryl-sulfatase
- From:
Chinese Journal of Obstetrics and Gynecology
2022;57(6):407-412
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE 3) levels and XLI. Methods:A total of 56 fetuses with Xp22.31 microdeletion indicated by prenatal diagnosis and 70 fetuses diagnosed with trisomy 21 and 26 fetuses with trisomy 18 in Henan Provincial People's Hospital and Affiliated Hospital of Weifang Medical College from September 2016 to June 2021 were collected. The multiples of median (MoM) values of uE 3, alpha-fetoprotein (AFP), and human chorionic gonadotropin (hCG) during the second trimester of pregnancy were retrospectively analyzed. Prenatal diagnosis was made by amniotic fluid karyotype analysis and genome copy number variant analysis, parent genetic verification and pathogenicity analysis were performed, and maternal and infant outcomes were followed up. Results:Of 56 pregnant women with fetal Xp22.31 microdeletion, 43 underwent serological screening during the second trimester of pregnancy, of which 42 were abnormal (39 male fetuses and 3 female fetuses). The median uE 3 MoM value of 39 male fetuses [0.06 (0.00-0.21)] was lower than the normal value and significantly lower than that of fetuses with trisomy 21 [0.71 (0.26-1.27)] and fetuses with trisomy 18 [0.36 (0.15-0.84)], the difference was statistically significant ( Z=99.96, P<0.001). While the MoM values of AFP and hCG were all within the normal range. Among the 56 fetuses carrying Xp22.31 microdeletion, 45 were male fetuses and 11 were female fetuses, and the deletion fragments all involved STS gene. Eighty-nine percent (50/56) were inherited from mother (49 cases) or father (1 case), and 11% (6/56) were de novo mutations. Follow-up showed 48 live births (38 males and 10 females) and 8 chose to terminate pregnancy (7 males and 1 female). Among the 38 male newborns, 37 presented with scaly skin changes from 1 to 3 months of age, and one had no clinical manifestations until 4 months after birth. Ten female newborns had no obvious clinical manifestations. Conclusions:The decrease levels of uE 3 MoM on maternal serological screening is closely related to the higher risk of XLI in male fetuses. For pregnant women with low uE 3 in serological screening or with family history of ichthyosis, in addition to chromosomal karyotype analysis, joint detection of genomic copy number variant analysis should be recommended.
