Prenatal diagnosis and pregnancy outcome of fetuses with isolated echogenic bowel
10.3760/cma.j.cn113903-20221009-00879
- VernacularTitle:孤立性肠管回声增强胎儿的产前诊断及妊娠结局分析
- Author:
Qingmei SHEN
1
;
Xiaoqing WU
;
Bin LIANG
;
Meiying WANG
;
Lin ZHENG
;
Hua CAO
;
Liangpu XU
Author Information
1. 福建省妇幼保健院（福建医科大学妇儿临床学院）医学遗传诊疗中心（福建省产前诊断与出生缺陷重点实验室），福州 350001
- Keywords:
Echogenic bowel;
Fetal diseases;
Prenatal diagnosis;
Chromosome aberrations;
Cytomegalovirus infections;
Karyotyping;
Microarray analysis;
Pregnancy outcome
- From:
Chinese Journal of Perinatal Medicine
2023;26(6):476-481
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical value of isolated fetal echogenic bowel (FEB) as an indicator for invasive prenatal diagnosis.Methods:This retrospective study enrolled 183 pregnant women who were diagnosed with isolated FEB and underwent invasive prenatal diagnosis in Fujian Maternity and Child Health Hospital from August 2013 to January 2021. Clinical data including the results of conventional karyotyping and chromosomal microarray analysis (CMA), cytomegalovirus (CMV) DNA loads in amniotic fluid and pregnancy outcomes were reviewed analyzed. Chi-square test was used for statistical analysis Results:Karyotyping was performed on all of the 183 fetuses and three (1.64%) aneuploidies (one case of trisomy 21, one trisomy 18 and one 47,XYY syndrome) were detected. One trisomy 21 and four pathogenic (P)/likely pathogenic (LP) copy number variation (CNV) were detected among 108 fetuses who received CMA. The detection rate of P/LP chromosomal abnormalities by CMA was higher than that by karyotyping, but there was no significant difference between them [4.63% (5/108) vs 0.93% (1/108), χ 2=1.54, P>0.05]. In addition, three cases of variants of uncertain significance (VOUS) were detected by CMA. CMV DNA loads of fetal cells in the amniotic fluid samples of the 166 cases were determined, and only one (0.6%) was positive (CMV DNA up to 7.01×10 6 copies/ml), and no abnormalities were found in karyotype analysis and CMA detection. A total of 176 cases were followed up, and among them only one case of intrauterine infection and seven cases (three aneuploidies and four P/LP CNV) of chromosomal abnormalities were terminated after genetic counseling. Three fetuses with VOUS and other 165 fetuses without chromosomal abnormalities had a good prognosis after birth. Conclusions:Isolated FEB may be the abnormal ultrasound finding in fetuses with chromosomal abnormalities or CMV infection. Prenatal genetic testing and the exclusion of intrauterine infection are important for management during pregnancy and prognosis assessment of FEB.
