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Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer.
European Journal of Medical Genetics ( IF 1.6 ) Pub Date : 2020-01-20 , DOI: 10.1016/j.ejmg.2020.103852
Jenna Friedenthal 1 , Susan M Maxwell 1 , Ashley W Tiegs 2 , Andria G Besser 1 , Caroline McCaffrey 1 , Santiago Munné 3 , Nicole Noyes 1 , James A Grifo 1
Affiliation  

We investigated clinical error rates with single thawed euploid embryo transfer (STEET) diagnosed by next generation sequencing (NGS) and array comparative genomic hybridization (aCGH). A total of 1997 STEET cycles after IVF with preimplantation genetic testing for aneuploidy (PGT-A) from 2010 to 2017 were identified; 1151 STEET cycles utilized NGS, and 846 STEET cycles utilized aCGH. Any abortions, spontaneous or elective, in which products of conception (POCs) were collected were reviewed. Discrepancies between chorionic villus sampling, amniocentesis, or live birth results and PGT-A diagnosis were also included. Primary outcomes were clinical error rate per: ET, pregnancy with gestational sac, live birth, and spontaneous abortion with POCs available for analysis. Secondary outcomes included implantation rate (IR), spontaneous abortion rate (SABR), and ongoing pregnancy/live birth rate (OPR/LBR). The clinical error rates in the NGS cohort were: 0.7% per embryo, 1% per pregnancy with gestational sac, and 0.1% rate per OP/LB. The error rate per SAB with POCs was 13.3%. The IR was 69.1%, the OPR/LBR was 61.6%, and the spontaneous abortion rate was 10.2%. The clinical error rates in the aCGH cohort were: 1.3% per embryo, 2% per pregnancy with gestational sac, and 0.4% rate per OP/LB. The error rate per SAB with POCs was 23.3%. The IR was 63.8%, the OPR/LBR was 54.6%, and the SAB rate was 12.4%. Our findings demonstrate that, although NGS and aCGH are sensitive platforms for PGT-A, errors still occur. Appropriate patient counseling and routine prenatal screening are recommended for all patients undergoing IVF/PGT-A.



中文翻译:

下一代测序和单融化整倍体胚胎移植的阵列比较基因组杂交的临床错误率。

我们调查了通过下一代测序(NGS)和阵列比较基因组杂交(aCGH)诊断的单融化整倍体胚胎移植(STEET)的临床错误率。从2010年到2017年,共进行了1997年体外受精(IVF)和非整倍性植入前基因测试(PGT-A)后的STEET周期;1151个STEET循环利用了NGS,而846个STEET循环利用了aCGH。回顾了收集自然产物(POC)的任何自然流产或选择性流产。绒毛膜绒毛取样,羊膜穿刺术或活产结果与PGT-A诊断之间的差异也包括在内。主要结局为:每例ET的临床错误率,妊娠囊妊娠,活产和自发流产以及可用于分析的POC。次要结果包括植入率(IR),自然流产率(SABR)和持续妊娠/活产率(OPR / LBR)。NGS队列中的临床错误率是:每个胚胎0.7%,每个怀孕的妊娠囊1%,每个OP / LB 0.1%。每个具有POC的SAB的错误率为13.3%。IR为69.1%,OPR / LBR为61.6%,自然流产率为10.2%。aCGH队列中的临床错误率是:每个胚胎1.3%,每个有妊娠囊的妊娠2%,每个OP / LB的0.4%。每个带有POC的SAB的错误率为23.3%。IR为63.8%,OPR / LBR为54.6%,SAB率为12.4%。我们的发现表明,尽管NGS和aCGH是PGT-A的敏感平台,但仍然会发生错误。建议对所有接受IVF / PGT-A的患者进行适当的患者咨询和常规的产前检查。以及持续的妊娠/活产率(OPR / LBR)。NGS队列中的临床错误率是:每个胚胎0.7%,每个怀孕的妊娠囊1%,每个OP / LB 0.1%。每个带有POC的SAB的错误率为13.3%。IR为69.1%,OPR / LBR为61.6%,自然流产率为10.2%。aCGH队列中的临床错误率是:每个胚胎1.3%,每个有妊娠囊的妊娠2%,每个OP / LB的0.4%。每个带有POC的SAB的错误率为23.3%。IR为63.8%,OPR / LBR为54.6%,SAB率为12.4%。我们的发现表明,尽管NGS和aCGH是PGT-A的敏感平台,但仍然会发生错误。建议对所有接受IVF / PGT-A的患者进行适当的患者咨询和常规的产前检查。以及持续的妊娠/活产率(OPR / LBR)。NGS队列中的临床错误率是:每个胚胎0.7%,每个怀孕的有妊娠囊的1%,每个OP / LB的0.1%。每个具有POC的SAB的错误率为13.3%。IR为69.1%,OPR / LBR为61.6%,自然流产率为10.2%。aCGH队列中的临床错误率是:每个胚胎1.3%,每个有妊娠囊的妊娠2%,每个OP / LB的0.4%。每个带有POC的SAB的错误率为23.3%。IR为63.8%,OPR / LBR为54.6%,SAB率为12.4%。我们的发现表明,尽管NGS和aCGH是PGT-A的敏感平台,但仍然会发生错误。建议对所有接受IVF / PGT-A的患者进行适当的患者咨询和常规的产前检查。每次妊娠合并妊娠囊1%,每个OP / LB比率0.1%。每个具有POC的SAB的错误率为13.3%。IR为69.1%,OPR / LBR为61.6%,自然流产率为10.2%。aCGH队列中的临床错误率是:每个胚胎1.3%,每个有妊娠囊的妊娠2%,每个OP / LB的0.4%。每个带有POC的SAB的错误率为23.3%。IR为63.8%,OPR / LBR为54.6%,SAB率为12.4%。我们的发现表明,尽管NGS和aCGH是PGT-A的敏感平台,但仍然会发生错误。建议对所有接受IVF / PGT-A的患者进行适当的患者咨询和常规的产前检查。每次妊娠合并妊娠囊1%,每个OP / LB比率0.1%。每个带有POC的SAB的错误率为13.3%。IR为69.1%,OPR / LBR为61.6%,自然流产率为10.2%。aCGH队列中的临床错误率是:每个胚胎1.3%,每个有妊娠囊的妊娠2%,每个OP / LB的0.4%。每个带有POC的SAB的错误率为23.3%。IR为63.8%,OPR / LBR为54.6%,SAB率为12.4%。我们的发现表明,尽管NGS和aCGH是PGT-A的敏感平台,但仍然会发生错误。建议对所有接受IVF / PGT-A的患者进行适当的患者咨询和常规的产前检查。aCGH队列中的临床错误率是:每个胚胎1.3%,每个有妊娠囊的妊娠2%,每个OP / LB的0.4%。每个带有POC的SAB的错误率为23.3%。IR为63.8%,OPR / LBR为54.6%,SAB率为12.4%。我们的发现表明,尽管NGS和aCGH是PGT-A的敏感平台,但仍然会发生错误。建议对所有接受IVF / PGT-A的患者进行适当的患者咨询和常规的产前检查。aCGH队列中的临床错误率是:每个胚胎1.3%,每个有妊娠囊的妊娠2%,每个OP / LB的0.4%。每个带有POC的SAB的错误率为23.3%。IR为63.8%,OPR / LBR为54.6%,SAB率为12.4%。我们的发现表明,尽管NGS和aCGH是PGT-A的敏感平台,但仍然会发生错误。建议对所有接受IVF / PGT-A的患者进行适当的患者咨询和常规的产前检查。

更新日期:2020-01-20
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