Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis

Lou, Jiwu; Sun, Manna; Zhao, Ying; Fu, Youqing; Yuan, Haiming; Dai, Yunshi; Liang, Fuxiao; He, Yanan; Liu, Qing

doi:10.1080/14767058.2020.1808612

Cited by 2 publications

(1 citation statement)

References 26 publications

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“…While many CNVs contribute only to our genetic variability without any implications for disease expression, the experience in medical genetics suggests that larger de novo CNVs are more likely to be disease associated [7]. Furthermore, it has been suggested that phenotypes with multiple congenital anomalies are more likely to be caused by CNVs than isolated defects [8]. Furthermore, it seems that certain phenotypes are associated with certain CNVs in the genome, independent whether this CNV represents a gain or loss of genetic material, e.g., 22q11.2 deletion or duplication syndrome and congenital heart defects [9,10].…”

Section: Copy-number Variations (Cnvs) and Their Impact On The Expression Of Birth Defectsmentioning

confidence: 99%

Lessons Learned from CNV Analysis of Major Birth Defects

Hilger

Dworschak

Reutter

2020

IJMS

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The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. With the advent of systematic array-based molecular karyotyping, larger cohorts of affected individuals have been screened over the past decade. This review discusses the identification of disease-causing copy-number variations (CNVs) among individuals with different congenital malformations. It highlights the differences in findings depending on the respective congenital malformation. It looks at the differences in findings of CNV analysis in non-isolated complex congenital malformations, associated with central nervous system malformations or intellectual disabilities, compared to isolated single organ-system malformations. We propose that the more complex an organ system is, and the more genes involved during embryonic development, the more likely it is that mutational de novo events, comprising CNVs, will confer to the expression of birth defects of this organ system.

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Section: Copy-number Variations (Cnvs) and Their Impact On The Expression Of Birth Defectsmentioning

confidence: 99%

Lessons Learned from CNV Analysis of Major Birth Defects

Hilger

Dworschak

Reutter

2020

IJMS

View full text Add to dashboard Cite

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Ralationship between polymorphisms and diplotypes of HLA-G 3’UTR and fetuses with abnormal chromosomes or unexplained pregnancy loss (UPL)

Xu,

Zhu,

Wang

et al. 2024

Hum Genomics

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Objectives Human leukocyte antigen G (HLA-G) plays a crucial role in pregnancy. Pregnancy loss (PL) is caused by a variety of causes, such as fetal chromosomal abnormalities, maternal hypertension and diabetes, immune causes, spontaneous immune diseases, infections, unknown causes, etc. This study reports on the association of fetal HLA-G 3’UTR polymorphisms and diplotypes with chromosomally abnormal fetuses (CAF) or unexplained pregnancy loss (UPL). Methods A total of 552 specimens were collected and grouped by next-generation sequencing technology (NGS) and fetal survival: UPL (112 cases), CAF (170 cases) and control (258 cases). The polymorphisms of HLA-G 3’UTR in all samples were detected by Sanger sequencing. The genotypes, haplotypes and diplotypes of HLA-G 3’UTR were analyzed. The classification and regression tree (CART) analysis was used to evaluate the role of HLA-G diplotypes in predicting fetal outcomes. The correlations between CAF or UPL and maternal age, paternal age, times of miscarrage, times of delivery were analyzed by logistic regression. Results The frequencies of HLA-G + 2960del/del and + 3035CC genotypes were remarkablly increased in CAF than those in control group. The frequencies of HLA-G + 2960ins/del, + 3010CC, + 3035TC, + 3142GG, + 3187AA in CAF were significantly lower than those in normal fetuses. Through genetic models and logistic regression analysis, the dominant model of HLA-G 3’UTR genotypes [such as + 2960 (OR = 1.27, 95% CI = 1.05–1.54, p = 0.016), + 3010 (OR = 0.78, 95% CI = 0.63–0.97, p = 0.026), + 3035 (OR = 1.22, 95% CI = 1.00–1.49, p = 0.047), + 3142 (OR = 0.76, 95% CI = 0.62–0.95, p = 0.014) and + 3187 (OR = 0.80, 95% CI = 0.65–0.99, p = 0.041)] were dramatically associated with CAF. However, the frequencies of HLA-G + 3010GC, + 3142GC and + 3187AG in fetuses with UPL were memorably decreased than those in normal fetuses. No significant difference was found in the frequencies of HLA-G haplotypes in all groups. However, the frequency of UTR-1 positive specimens in CAF was significantly higher than that in UPL and control group. At the same time, the frequency of UTR-1/UTR-3 diplotypes in CAF was observably higher than that in UPL and control group, while the UTR-1/UTR-7 frequency in UPL was signally lower than that in control group. Multivariate logistic regression analysis indicated that positive HLA-G UTR-1 (OR = 1.8, 95% CI = 1.16–2.81, p = 0.009), times of abortion (OR = 1.23, 95% CI = 1.02–1.50, p = 0.035), and times of delivery (OR = 0.31, 95% CI = 0.20–0.48, p < 0.001) were correlated with CAF. Conclusions This study suggests that HLA-G 3’UTR polymorphisms and diplotypes play an important role in the process of successful pregnancy of the embryos wit...

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Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis

Cited by 2 publications

References 26 publications

Lessons Learned from CNV Analysis of Major Birth Defects

Lessons Learned from CNV Analysis of Major Birth Defects

Ralationship between polymorphisms and diplotypes of HLA-G 3’UTR and fetuses with abnormal chromosomes or unexplained pregnancy loss (UPL)

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