常染色体三体性的镶嵌在临床实践中并不常见。然而,尽管在产前和产后诊断中都很少见,有大量特征性和公开的病例。令人惊讶的是,与常规三体相反,没有尝试对马赛克载体的人口统计学进行系统分析。这是旨在解决这一差距的第一项研究。为此,我们已经筛选了八百多本关于马赛克三体的出版物,审查数据,包括性别和马赛克携带者的临床状况,产妇年龄和生育史。总的来说,596种出版物符合分析条件,包含948个产前诊断的数据,包括真正的胎儿镶嵌(TFM)和局限的胎盘镶嵌(CPM),以及318例产后检测到的马赛克(PNM)。出生体重适当的正常妊娠结局与宫内生长受限的孕妇年龄无差异。出乎意料的是,与异常结局(异常胎儿或新生儿)和胎儿损失相比,在正常结局中发现的高龄产妇(AMA)比例更高,73%vs.56%和50%,相应地,p=0.0015和p=0.0011。另一个有趣的发现是,与具有双亲二体(BPD)的携带者相比,染色体7、14、15和16的伴随单亲二体(UPD)的马赛克携带者中AMA比例更高(72%vs.58%,92%vs.55%,87%vs.78%,和65%vs.24%,相应地);总体数字为78%,而不是48%,p=0.0026。对生殖史的分析显示,与TFM和CPM队列的母亲(正常结局的比例很大)相比,PNM队列中报告先前胎儿丢失的母亲(几乎所有患者均为临床异常)的报告率非常差,但几乎高出两倍。30%vs.16%,p=0.0072。先前妊娠染色体异常的发生在产前队列中占13分之一,在出生后队列中占16分之一,与已发表的非马赛克三体研究相比,高出五倍。我们认为在这项研究中获得的数据是初步的,尽管文献综述的数量很大,因为详细数据的报告大多很差。因此,研究的队列并不代表“大数据”。然而,获得的信息对于临床遗传咨询和建模进一步研究都很有用。
Mosaicism for autosomal trisomy is uncommon in clinical practice. However, despite its rarity among both prenatally and postnatally diagnoses, there are a large number of characterized and published cases. Surprisingly, in contrast to regular trisomies, no attempts at systematic analyses of mosaic carriers\' demographics were undertaken. This is the first study aimed to address this gap. For that, we have screened more than eight hundred publications on mosaic trisomies, reviewing data including gender and clinical status of mosaic carriers, maternal age and reproductive history. In total, 596 publications were eligible for analysis, containing data on 948 prenatal diagnoses, including true fetal mosaicism (TFM) and confined placental mosaicism (CPM), and on 318 cases of postnatally detected mosaicism (PNM). No difference was found in maternal age between normal pregnancy outcomes with appropriate birth weight and those with intrauterine growth restriction. Unexpectedly, a higher proportion of advanced maternal ages (AMA) was found in normal outcomes compared to abnormal ones (abnormal fetus or newborn) and fetal losses, 73% vs. 56% and 50%, p = 0.0015 and p = 0.0011, correspondingly. Another intriguing finding was a higher AMA proportion in mosaic carriers with concomitant uniparental disomy (UPD) for chromosomes 7, 14, 15, and 16 compared to carriers with biparental disomy (BPD) (72% vs. 58%, 92% vs. 55%, 87% vs. 78%, and 65% vs. 24%, correspondingly); overall figures were 78% vs. 48%, p = 0.0026. Analysis of reproductive histories showed a very poor reporting but almost two-fold higher rate of mothers reporting a previous fetal loss from PNM cohort (in which almost all patients were clinically abnormal) compared to mothers from the TFM and CPM cohorts (with a large proportion of normal outcomes), 30% vs. 16%, p = 0.0072. The occurrence of a previous pregnancy with a chromosome abnormality was 1 in 13 in the prenatal cohort and 1 in 16 in the postnatal cohort, which are five-fold higher compared to published studies on non-mosaic trisomies. We consider the data obtained in this study to be preliminary despite the magnitude of the literature reviewed since reporting of detailed data was mostly poor, and therefore, the studied cohorts do not represent \"big data\". Nevertheless, the information obtained is useful both for clinical genetic counseling and for modeling further studies.