Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs [0.03%]
不同颈项透明层切点下无创产前检测技术在染色体异常妊娠筛查中应用价值分析
Yong Xu,Siqi Hu,Liyuan Chen et al.
Yong Xu et al.
Objective: To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT). Methods: ...
Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family [0.03%]
22q11.1q11.21重复导致的猫眼综合征病例报告：一家系中的研究
Yanan Wang,Pai Zhang,Yuqiong Chai et al.
Yanan Wang et al.
Purpose: This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. Case presentation: The proban...
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports [0.03%]
唐氏综合征合并GATA1基因变异胎儿暂时性异常髓细胞增多症的产前诊断：2例报告
Hui Tang,Jingjing Hu,Ling Liu et al.
Hui Tang et al.
Background: Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Do...
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? [0.03%]
通过细胞游离DNA基因分型技术能够识别多少比例的反复自然流产且一方父母携带染色体平衡易位的家庭？
Laura J C M van Zutven,Jona Mijalkovic,Monique van Veghel-Plandsoen et al.
Laura J C M van Zutven et al.
Background: Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal...
Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization [0.03%]
无创产前基因检测在91280例自然妊娠和3477例体外受精妊娠中应用价值分析
Rong Wei,Jingran Li,Yuanyuan Xia et al.
Rong Wei et al.
Background: Many clinical studies based on spontaneous pregnancies (SPs) have demonstrated the superiority of non-invasive prenatal testing (NIPT), and the question of whether this technology is suitable for offspring con...
Cytogenetic profile of 1791 adult acute myeloid leukemia in India [0.03%]
印度成人急性髓系白血病的细胞遗传学特征分析(1791例)
Vivi M Srivastava,Sukesh Chandran Nair,Marimuthu Sappani et al.
Vivi M Srivastava et al.
Background: Cytogenetic analysis continues to have an important role in the management of acute myeloid leukemia (AML) because it is essential for prognostication. It is also necessary to diagnose specific categories of A...
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis [0.03%]
产前诊断中微小额外标记染色体的分子和细胞遗传学分析
Yang Yang,Wang Hao
Yang Yang
Background: Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenata...
Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency [0.03%]
早孕期NT异常增厚胎儿的产前诊断及出生后早期结局分析
Hang Zhou,Xin Yang,CuiXing Yi et al.
Hang Zhou et al.
Objective: To evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm). Methods: ...
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome [0.03%]
ADAMTS8的新发突变致威登斯坦综合征一例
Sifeng Wang,Shuyuan Yan,Jingjun Xiao et al.
Sifeng Wang et al.
Background: Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual dis...
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction [0.03%]
两个伴有宫内生长受限胎儿的2号染色体父系单亲二倍体的产前诊断
Xuemei Tan,Bailing Liu,Tizhen Yan et al.
Xuemei Tan et al.
Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for c...