Department of Ultrasonic Medicine, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
Department of Genetic and Reproductive Science, The Xiangtan Central Hospital, Xiangtan, Hunan 411413, P.R. China.
Mol Med Rep. 2017 Nov;16(5):7641-7648. doi: 10.3892/mmr.2017.7548. Epub 2017 Sep 20.
Prenatal examinations, including serological screening and ultrasound screening, are the methods determining a risk of fetal chromosomal disease. The current study is aimed to assess whether ultrasound screening can effectively assist the screening for fetal chromosomal disease among pregnant women with a single abnormal serum marker. Following serologic screening, pregnant women at 18‑32 weeks underwent systematic fetal ultrasound analysis. In this study, 99 pregnant women with an abnormal serum marker and fetal ultrasound abnormalities underwent prenatal diagnosis of amniotic fluid or umbilical cord blood, with confirmation by pathological examination performed following birth or induced labor. A total of 95 cases with an abnormal serum marker but no fetal ultrasound abnormalities were used as the control group, and underwent prenatal karyotype analysis. The rate of fetal chromosomal abnormalities of women with ultrasound abnormalities was significantly higher than in the control group. The fetal chromosomal abnormalities rate in pregnant women with a history of abnormal gestation/birth was higher than in pregnant women with a normal history. The present results suggest that ultrasound examination can facilitate screening for fetal chromosome abnormalities in pregnant women with a single abnormal serum marker.
产前检查,包括血清学筛查和超声筛查,是确定胎儿染色体疾病风险的方法。本研究旨在评估超声筛查是否能有效协助对血清学标志物单一异常的孕妇进行胎儿染色体疾病筛查。在血清学筛查后,18-32 周的孕妇进行系统的胎儿超声分析。在本研究中,99 例血清标志物异常且胎儿超声异常的孕妇行羊水或脐静脉血产前诊断,出生或引产后行病理检查证实。95 例血清标志物异常但无胎儿超声异常的孕妇作为对照组,行产前染色体核型分析。超声异常组胎儿染色体异常率明显高于对照组。有异常妊娠/分娩史的孕妇胎儿染色体异常率高于正常妊娠史的孕妇。本研究结果表明,超声检查可有助于筛查血清学标志物单一异常的孕妇胎儿染色体异常。