Abstract：
In singleton pregnancies, the use of cell-free DNA (cfDNA) analysis as a screening test for common fetal trisomies has spread worldwide though we still lack sufficient data for its use in triplet pregnancies. The objective of this study is to assess the performance of cfDNA testing in detecting fetal aneuploidies in triplet pregnancies as a first-tier test.
We performed a retrospective cohort study including data from pregnant women with a triplet pregnancy who underwent cfDNA testing between May 1, 2017, and January 15, 2020. cfDNA was obtained by massive parallel sequencing (VeriSeq NIPT solution; Illumina®). The objectives of the study were to assess the diagnostic performance of cfDNA testing for trisomy 21 (T21) (primary outcome), trisomy 18 (T18) and 13 (secondary outcomes).
During the study period, cfDNA testing was performed in 255 women with triplet pregnancy, of which 165 (64.7%) had a neonatal outcome available. Three tests were positive for T21, one of which was confirmed by an antenatal karyotype, and the other was confirmed at birth. The third case did not undergo an invasive procedure and was not confirmed at birth (false positive). In one case, cfDNA testing was positive for T18 and was confirmed by an antenatal karyotype. There were no cases of trisomy 13 in the cohort. The no-call rate was 2.4% at first sampling. Fifty-eight (22.7%) women had embryo reduction, which in 40 (69%) of whom was performed after the cfDNA test result.
cfDNA testing could be offered as primary screening for main fetal aneuploidies in triplet pregnancies after provision of appropriate patient information.
We performed a retrospective cohort study including data from pregnant women with a triplet pregnancy who underwent cfDNA testing between May 1, 2017, and January 15, 2020. cfDNA was obtained by massive parallel sequencing (VeriSeq NIPT solution; Illumina®). The objectives of the study were to assess the diagnostic performance of cfDNA testing for trisomy 21 (T21) (primary outcome), trisomy 18 (T18) and 13 (secondary outcomes).
During the study period, cfDNA testing was performed in 255 women with triplet pregnancy, of which 165 (64.7%) had a neonatal outcome available. Three tests were positive for T21, one of which was confirmed by an antenatal karyotype, and the other was confirmed at birth. The third case did not undergo an invasive procedure and was not confirmed at birth (false positive). In one case, cfDNA testing was positive for T18 and was confirmed by an antenatal karyotype. There were no cases of trisomy 13 in the cohort. The no-call rate was 2.4% at first sampling. Fifty-eight (22.7%) women had embryo reduction, which in 40 (69%) of whom was performed after the cfDNA test result.
cfDNA testing could be offered as primary screening for main fetal aneuploidies in triplet pregnancies after provision of appropriate patient information.
摘要：
目标：在单胎妊娠中，使用无细胞DNA(cfDNA)分析作为常见胎儿三体的筛查测试已经在全球范围内传播,尽管我们仍然缺乏足够的数据用于三体妊娠.这项研究的目的是评估cfDNA测试在检测三胎妊娠中胎儿非整倍体方面的性能，作为第一层测试。
方法：我们进行了一项回顾性队列研究，包括2017年5月1日至2020年1月15日期间接受cfDNA检测的三胎妊娠孕妇的数据。通过大规模平行测序(VeriSeqNIPT溶液;Illumina®)获得cfDNA。该研究的目的是评估cfDNA检测对21三体（T21）的诊断性能（主要结果），18三体（T18）和13（次要结果）。
结果：在研究期间，在255名三胞胎妊娠妇女中进行了cfDNA检测，其中165例(64.7%)有新生儿结局.三项T21检测呈阳性，其中一项经产前核型证实，另一个在出生时被确认。第三例没有进行侵入性手术，出生时没有得到证实（假阳性）。在一个案例中,cfDNA检测T18阳性,产前核型证实.队列中没有13三体的病例。首次抽样的无呼叫率为2.4%。58名(22.7%)女性胚胎减少，其中40人(69%)是在cfDNA检测结果后进行的。
结论：在提供适当的患者信息后，cfDNA检测可作为三胞胎妊娠中主要胎儿非整倍体的初步筛查。
方法：我们进行了一项回顾性队列研究，包括2017年5月1日至2020年1月15日期间接受cfDNA检测的三胎妊娠孕妇的数据。通过大规模平行测序(VeriSeqNIPT溶液;Illumina®)获得cfDNA。该研究的目的是评估cfDNA检测对21三体（T21）的诊断性能（主要结果），18三体（T18）和13（次要结果）。
结果：在研究期间，在255名三胞胎妊娠妇女中进行了cfDNA检测，其中165例(64.7%)有新生儿结局.三项T21检测呈阳性，其中一项经产前核型证实，另一个在出生时被确认。第三例没有进行侵入性手术，出生时没有得到证实（假阳性）。在一个案例中,cfDNA检测T18阳性,产前核型证实.队列中没有13三体的病例。首次抽样的无呼叫率为2.4%。58名(22.7%)女性胚胎减少，其中40人(69%)是在cfDNA检测结果后进行的。
结论：在提供适当的患者信息后，cfDNA检测可作为三胞胎妊娠中主要胎儿非整倍体的初步筛查。
