PDF(Pubmed)
Abstract：
OBJECTIVE: To investigate the effect of the presence or absence of fetal anomalies and soft markers diagnosed by ultrasound on positive predictive value (PPV) 21, 18 and 13 in pregnancies with a high-risk cfDNA result.
METHODS: Retrospective study including singleton pregnancies with high-risk NIPT results for common trisomies followed by invasive testing. The cases were grouped by gestational age at the time of invasive testing and by the presence or absence of fetal abnormalities or soft markers. The ultrasound was considered abnormal if at least one major defect or a soft marker was detected.
RESULTS: A total of 173 women were included. Median maternal and gestational age was 37.7 years and 14.0 weeks, respectively. CfDNA test result showed high-risk for trisomy 21 and trisomy 18 or 13 in 119 and 54 cases, respectively. The \"pre-ultrasound\" PPV for trisomy 21 and for trisomy 18 or 13 were 98.3% and 68.4%, respectively. In case of a high-risk result for trisomy 21 and no fetal anomalies, the PPV was 86.7% while it was 100% if there were anomalies or markers present. In the case of a high-risk result for trisomy 18 or 13, the PPV was 9.5% if the ultrasound examination was normal and 100% if the ultrasound examination was abnormal.
CONCLUSIONS: This study suggests that a detailed ultrasound examination performed after a cfDNA result that is high-risk for one of the common autosomal trisomies adds significantly to establishing an individualized risk assessment. This is particularly true in cases with a high-risk result for trisomies 18 or 13.
METHODS: Retrospective study including singleton pregnancies with high-risk NIPT results for common trisomies followed by invasive testing. The cases were grouped by gestational age at the time of invasive testing and by the presence or absence of fetal abnormalities or soft markers. The ultrasound was considered abnormal if at least one major defect or a soft marker was detected.
RESULTS: A total of 173 women were included. Median maternal and gestational age was 37.7 years and 14.0 weeks, respectively. CfDNA test result showed high-risk for trisomy 21 and trisomy 18 or 13 in 119 and 54 cases, respectively. The \"pre-ultrasound\" PPV for trisomy 21 and for trisomy 18 or 13 were 98.3% and 68.4%, respectively. In case of a high-risk result for trisomy 21 and no fetal anomalies, the PPV was 86.7% while it was 100% if there were anomalies or markers present. In the case of a high-risk result for trisomy 18 or 13, the PPV was 9.5% if the ultrasound examination was normal and 100% if the ultrasound examination was abnormal.
CONCLUSIONS: This study suggests that a detailed ultrasound examination performed after a cfDNA result that is high-risk for one of the common autosomal trisomies adds significantly to establishing an individualized risk assessment. This is particularly true in cases with a high-risk result for trisomies 18 or 13.
摘要：
目的：探讨超声诊断的胎儿畸形和软标记物的存在与否对具有高风险cfDNA结果的妊娠中阳性预测值（PPV）21、18和13的影响。
方法：回顾性研究，包括单胎妊娠与常见三体综合征的高风险NIPT结果，然后进行侵入性检测。病例按侵入性测试时的胎龄以及胎儿异常或软标记的存在或不存在进行分组。如果检测到至少一个主要缺陷或软标记，则认为超声异常。
结果：共纳入173名妇女。产妇和胎龄中位数为37.7岁和14.0周，分别。CfDNA检测结果显示，在119例和54例中，21三体和18三体或13三体的风险很高，分别。21三体和18或13三体的“超声前”PPV分别为98.3%和68.4%，分别。在21三体的高风险结果和没有胎儿异常的情况下，PPV为86.7%,如果存在异常或标志物则为100%.在18或13三体的高风险结果的情况下，如果超声检查正常，则PPV为9.5％，如果超声检查异常，则为100％。
结论：这项研究表明，在一个常见的常染色体三体综合征高风险的cfDNA结果后进行的详细超声检查显著增加了建立个性化风险评估。在三体18或13具有高风险结果的情况下尤其如此。
方法：回顾性研究，包括单胎妊娠与常见三体综合征的高风险NIPT结果，然后进行侵入性检测。病例按侵入性测试时的胎龄以及胎儿异常或软标记的存在或不存在进行分组。如果检测到至少一个主要缺陷或软标记，则认为超声异常。
结果：共纳入173名妇女。产妇和胎龄中位数为37.7岁和14.0周，分别。CfDNA检测结果显示，在119例和54例中，21三体和18三体或13三体的风险很高，分别。21三体和18或13三体的“超声前”PPV分别为98.3%和68.4%，分别。在21三体的高风险结果和没有胎儿异常的情况下，PPV为86.7%,如果存在异常或标志物则为100%.在18或13三体的高风险结果的情况下，如果超声检查正常，则PPV为9.5％，如果超声检查异常，则为100％。
结论：这项研究表明，在一个常见的常染色体三体综合征高风险的cfDNA结果后进行的详细超声检查显著增加了建立个性化风险评估。在三体18或13具有高风险结果的情况下尤其如此。
