产前无创DNA联合血清孕酮检测对孕早期胎儿染色体异常的诊断价值

Value of non-invasive prenatal DNA testing combined with serum progesterone testing in diagnosis of early fetal chromosome abnormalities

目的探讨产前无创DNA(NIPT)联合血清孕酮检测对早期胎儿染色体异常的诊断价值。方法回顾性抽取2021年6月至2023年6月于濮阳市妇幼保健院进行胎儿染色体疾病筛查的孕妇405例,均进行NIPT、血清孕酮水平检测及羊水穿刺。以羊水穿刺染色体核型分析结果为"金标准",比较胎儿染色体异常孕妇与胎儿染色体正常孕妇的血清孕酮水平,比较NIPT、血清孕酮检测及联合检测结果,比较NIPT、血清孕酮检测及联合检测的诊断效能。结果405例孕妇中,经羊水穿刺诊断出胎儿染色体正常356例,胎儿染色体异常49例;NIPT诊断出胎儿染色体异常80例,胎儿染色体正常316例;血清孕酮检测诊断出胎儿染色体异常88例,胎儿染色体正常317例;联合诊断诊出胎儿染色体异常99例,胎儿染色体正常306例。胎儿染色体异常孕妇血清孕酮水平[(31.25±2.37)nmol/mL]低于胎儿染色体正常孕妇[(86.94±3.58)nmol/mL],差异有统计学意义(P<0.05)。联合诊断的灵敏度[93.88%(46/49)]、阴性预测值[99.02%(303/306)]高于NIPT[81.63%(40/49),97.15%(307/316)]、血清孕酮检测[71.43%(35/49),95.58%(303/317)]单独诊断,漏诊率[6.12%(3/49)]低于NIPT[18.37%(9/49)]、血清孕酮检测[28.57%(14/49)]单独诊断。结论NIPT及血清孕酮检测对胎儿染色体异常均具有一定诊断效能,但联合检测的诊断价值更高,可作为孕早期胎儿染色体异常有效检查方式。

Objective To investigate the value of non-invasive prenatal DNA testing(NIPT)combined with serum progesterone testing in the diagnosis of early fetal chromosome abnormalities.Methods A retrospective study was adopted in this study.A total of 405 pregnant women who were screened for fetal chromosomal diseases in Puyang Maternity and Child Care Centers from June 2021 to June 2023 were retrospectively selected.All selected pregnant women underwent NIPT,serum progesterone level testing,and amniocentesis.Taking the results of amniocentesis chromosomal karyotype analysis as the gold standard,the levels of serum progesterone of pregnant women with fetal chromosomal abnormalities and normal fetal chromosomes were compared.The diagnostic results of NIPT,serum progesterone level testing,and combination of them were compared.And the diagnostic efficacy of NIPT,serum progesterone level testing,and combination of them were compared.Results Among the 405 pregnant women,356 cases were diagnosed with normal fetal chromosomes by amniocentesis,and 49 cases with fetal chromosome abnormality;80 cases of fetal chromosome abnormality and 316 cases of normal fetal chromosomes were diagnosed by NIPT;88 cases of fetal chromosome abnormality and 317 cases of normal fetal chromosomes were diagnosed by serum progesterone level testing;99 cases of fetal chromosome abnormality and 306 cases of normal fetal chromosomes were diagnosed by combined diagnosis.The level of progesterone in pregnant women with fetal chromosome abnormality was(31.25±2.37)nmol/mL,lower than the(86.94±3.58)nmol/mL in pregnant women with normal fetal chromosomes(P<0.05).The sensitivity(93.88%,46/49)and negative predictive value(99.02%,303/306)of combined diagnosis were corresponding higher than those of NIPT alone(81.63%,40/49;97.15%,307/316)and serum progesterone level testing alone(71.43%,35/49;95.58%,303/317);the missed diagnosis rate of combined diagnosis(6.12%,3/49)was lower than that of NIPT alone(18.37%,9/49)and serum progesterone level testing alone(28.57%,14/49).Conclusions Both NIPT alone and serum progesterone level testing alone have certain diagnostic effect for fetal chromosomal abnormality.However,the combination of them has higher diagnostic value,and can be used as an effective way to detect fetal chromosomal abnormality in early pregnancy.