Abstract：
To evaluate cell-free non-invasive prenatal testing (cfNIPT) in pregnancies affected by mosaicism.
We assessed paired cfNIPT and chorionic villus sample (CVS) results from the same pregnancies in a case series of mosaicism detected in Central and North Denmark Regions from April 2014 to September 2018. Indications for the clinically obtained CVS, pregnancy markers and outcome were retrieved from The Danish Fetal Medicine Database.
Mosaicisms in CVS involved common aneuploidy, n = 14; sex chromosomal aneuploidies, n = 14; rare autosomal trisomies (RATs), n = 16 and copy number variants (CNVs) >5Mb, n = 9. Overall, 24/53 (45.3%; CI 95%: 31.8%-59.4%) of cases with mosaicism were detected by cfNIPT; highest for RATs (56%) and lowest for CNVs (22%). CfNIPT more commonly detected high-level than low-level mosaic cases (p = 0.000). CfNIPT detected 7/16 (43.8%; CI 95%: 21%-69%) clinically significant mosaic cases, either true fetal mosaicism or confined placental mosaicisms with adverse pregnancy outcome. There was a trend toward a higher risk for adverse outcome in pregnancies where mosaicism was detected by cfNIPT compared to pregnancies where mosaicism was not detected by cfNIPT (p = 0.31).
CfNIPT has a low detection rate of mosaicism, including pregnancies with clinically significant mosaicism. However, abnormal cfNIPT results may be a predictor of adverse pregnancy outcomes.
We assessed paired cfNIPT and chorionic villus sample (CVS) results from the same pregnancies in a case series of mosaicism detected in Central and North Denmark Regions from April 2014 to September 2018. Indications for the clinically obtained CVS, pregnancy markers and outcome were retrieved from The Danish Fetal Medicine Database.
Mosaicisms in CVS involved common aneuploidy, n = 14; sex chromosomal aneuploidies, n = 14; rare autosomal trisomies (RATs), n = 16 and copy number variants (CNVs) >5Mb, n = 9. Overall, 24/53 (45.3%; CI 95%: 31.8%-59.4%) of cases with mosaicism were detected by cfNIPT; highest for RATs (56%) and lowest for CNVs (22%). CfNIPT more commonly detected high-level than low-level mosaic cases (p = 0.000). CfNIPT detected 7/16 (43.8%; CI 95%: 21%-69%) clinically significant mosaic cases, either true fetal mosaicism or confined placental mosaicisms with adverse pregnancy outcome. There was a trend toward a higher risk for adverse outcome in pregnancies where mosaicism was detected by cfNIPT compared to pregnancies where mosaicism was not detected by cfNIPT (p = 0.31).
CfNIPT has a low detection rate of mosaicism, including pregnancies with clinically significant mosaicism. However, abnormal cfNIPT results may be a predictor of adverse pregnancy outcomes.
摘要：
目的：评估无细胞非侵入性产前检测（cfNIPT）在镶嵌性妊娠中的应用。
方法：我们评估了2014年4月至2018年9月在丹麦中部和北部地区发现的一系列镶嵌性病例中相同妊娠的配对cfNIPT和绒毛膜绒毛样本（CVS）结果。临床获得的CVS的适应症，从丹麦胎儿医学数据库检索妊娠标志物和结局.
结果：CVS中的镶嵌涉及常见的非整倍性，n=14；性染色体非整倍体，n=14；罕见的常染色体三体（RAT），n=16和拷贝数变体（CNVs）>5Mb，n=9。总的来说,cfNIPT检测到24/53（45.3％；CI95％：31.8％-59.4％）的镶嵌性病例；RAT最高（56％），CNVs最低（22％）。CfNIPT更常见于高水平的马赛克病例（p=0.000）。CfNIPT检测到7/16（43.8％；CI95％：21％-69％）临床上有意义的马赛克病例，真正的胎儿镶嵌或局限性胎盘镶嵌与不良妊娠结局。与cfNIPT未检测到马赛克的妊娠相比，cfNIPT检测到马赛克的妊娠不良结局风险更高（p=0.31）。
结论：CfNIPT对镶嵌性的检出率较低，包括具有临床显著镶嵌性的妊娠。然而,cfNIPT异常结果可能是不良妊娠结局的预测因子.
方法：我们评估了2014年4月至2018年9月在丹麦中部和北部地区发现的一系列镶嵌性病例中相同妊娠的配对cfNIPT和绒毛膜绒毛样本（CVS）结果。临床获得的CVS的适应症，从丹麦胎儿医学数据库检索妊娠标志物和结局.
结果：CVS中的镶嵌涉及常见的非整倍性，n=14；性染色体非整倍体，n=14；罕见的常染色体三体（RAT），n=16和拷贝数变体（CNVs）>5Mb，n=9。总的来说,cfNIPT检测到24/53（45.3％；CI95％：31.8％-59.4％）的镶嵌性病例；RAT最高（56％），CNVs最低（22％）。CfNIPT更常见于高水平的马赛克病例（p=0.000）。CfNIPT检测到7/16（43.8％；CI95％：21％-69％）临床上有意义的马赛克病例，真正的胎儿镶嵌或局限性胎盘镶嵌与不良妊娠结局。与cfNIPT未检测到马赛克的妊娠相比，cfNIPT检测到马赛克的妊娠不良结局风险更高（p=0.31）。
结论：CfNIPT对镶嵌性的检出率较低，包括具有临床显著镶嵌性的妊娠。然而,cfNIPT异常结果可能是不良妊娠结局的预测因子.
