不同严重程度胎儿生长受限孕妇羊水染色体检测结果及妊娠结局分析

Analysis of Chromosomal Results from Amniocentesis and Pregnancy Outcomes in Pregnant Women with Fetal Growth Restriction of Different Severity

目的:分析不同严重程度胎儿生长受限(FGR)孕妇产前诊断结果及妊娠结局,为指导FGR临床咨询及管理提供依据。方法:选取2020年1月至2021年6月在四川省妇幼保健院就诊的FGR孕妇141例进行回顾性分析,根据不同胎儿预测体质量(EFW)分为轻型FGR组(同孕龄平均体质量第3百分位数≤EFW<同孕龄平均体质量第10百分位数,84例)和严重FGR组(EFW<同孕龄平均体质量第3百分位数,57例),均行羊水穿刺产前诊断,对两组染色体结果及妊娠结局进行比较分析。结果:141例FGR发现染色体异常19例(13.5%),严重FGR组染色体异常率19.3%(11/57)高于轻型FGR组9.5%(8/84),但差异无统计学意义(P=0.095)。110例同时进行了核型分析和染色体微阵列分析(CMA),CMA染色体异常检出率13.6%高于核型分析异常检出率4.5%,差异有统计学意义(P=0.006)。染色体非整倍体异常占染色体异常21.05%(4/19),其中1例18-三体、2例47,XXY;严重FGR组染色体异常中发现2例涉及4p16.3缺失,与Wolf-Hirschhorn综合征有关。严重FGR组终止妊娠率、入住新生儿重症监护室率较轻型FGR组高,足月分娩率和新生儿出生体质量较轻型FGR组低,差异有统计学意义(P<0.05);两组死胎率、早产率比较差异无统计学意义(P>0.05)。结论:FGR胎儿中CMA染色体异常检出率高于核型分析,建议FGR孕妇行侵入性产前诊断时采取核型分析联合CMA。严重FGR发生不良妊娠结局风险增加,孕期和围产期应加强监护,减少不良妊娠结局发生。

Objective:To analyze the prenatal diagnosis results and pregnancy outcomes of fetal growth re-striction(FGR)with varying severity and provide guidance for clinical counseling and management of FGR.Meth-ods:A total of 141 pregnant women with FGR treated at Sichuan Maternal and Child Health Hospital from January 2020 to June 2021 were selected for the retrospective study.They were divided into the mild FGR group(3th≤EFW<10th,84 cases)and the severe FGR group(EFW<3th,57 cases)based on different estimated fetal weight(EFW).All pregnant women underwent amniocentesis for prenatal diagnosis.The chromosome results and preg-nancy outcomes of the two groups were statistically analyzed.Results:19 cases(13.5%)of 141 fetuses with FGR were found with chromosome abnormalities.The rate of chromosomal abnormalities was 19.3%(11/57)in the severe FGR group,which was higher than the 9.5%(8/84)in the mild FGR group,but the difference was not statistically significant(P=0.095).110 cases underwent both karyotype analysis and chromosome microarray a-nalysis(CMA).The detection rate of chromosomal abnormalities in CMA was 13.6%,which was significantly higher than 4.5%in karyotype analysis(P=0.006).Among chromosomal abnormalities,chromosomal aneu-ploidy accounted for 21.05%(4/19),including 1 case of trisomy 18 and 2 cases of 47,XXY.Two cases with dele-tion in the 4p16.3 regions were found in the severe FGR group,and these deletions are associated with Wolf-Hir-schhorn syndrome.The termination rate of pregnancy and admission to the neonatal intensive care unit in the se-vere FGR group were higher than those in the mild FGR group.In contrast,the full-term delivery rate and newborn birth weight were lower in the severe FGR group compared to the mild FGR group,showing statistically significant differences(P<0.05).There was no statistically significant difference in the rates of stillbirth and preterm birth be-tween the two groups(P>0.05).Conclusions:The detection rate of chromosomal abnormalities using CMA in fetuses with FGR was higher than traditional karyotyping.Therefore,it is recommended to combine karyotyping with CMA for invasive prenatal diagnosis of FGR fetuses.The risk of adverse pregnancy outcomes increases with severe FGR,and monitoring should be intensified during pregnancy and the perinatal period to reduce adverse pregnancy outcomes.