scholarly journals Prenatal Diagnosis of WAGR Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Berrin Tezcan ◽  
Philip Rich ◽  
Amarnath Bhide
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Microarray Analysis ◽  
Genetic Disorder ◽  
Fetal Mri ◽  
Septum Pellucidum ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 11 ◽  
Cavum Septum Pellucidum ◽  
Wagr Syndrome

Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

A case of prenatal diagnosis of corpus callosum lipoma

2020 ◽  
Author(s):  
A.I. Zamiatina, M.V. Medvedev
Keyword(s):  
Magnetic Resonance Imaging ◽  
Blood Flow ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Color Doppler ◽  
Septum Pellucidum ◽  
Resonance Imaging

A case of prenatal diagnosis of the corpus callosum lipoma at 32–33 weeks of gestation is presented. In a consultative examination, a hyperechoic formation with clear contours was found in the projection of the septum pellucidum, occupying the rostrum, genu, and truncus of corpus callosum, without signs of intratumorally blood flow in the color Doppler mapping mode. The prenatal diagnosis of "callosum lipoma" was established, confirmed after the birth of a child during magnetic resonance imaging.

Chromosomal Microarray Analysis and Prenatal Diagnosis

2014 ◽  
Vol 69 (10) ◽  
pp. 613-621 ◽  
Author(s):  
Jamie O. Lo ◽  
Brian L. Shaffer ◽  
Cori D. Feist ◽  
Aaron B. Caughey
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

scholarly journals The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu'e Chen ◽  
Yingjun Xie ◽  
Yuying Jiang ◽  
Qi Luo ◽  
Lijing Shi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

scholarly journals A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Li Gao ◽  
Junyu Zhang ◽  
Xu Han ◽  
Wenjing Hu ◽  
Jinling Sun ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Deletion Syndrome ◽  
Chromosomal Microarray Analysis ◽  
Congenital Heart Diseases ◽  
Balanced Translocation ◽  
Cardiac Phenotype

Abstract Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal findings of 1p36 deletion syndrome are still limited. We report a fetus with 1p36 deletion and cardiac phenotype of dextrocardia, combined with a balanced translocation between chromosome 5 and 6. The phenotype of dextrocardia is rarely reported in prenatal 1p36 deletion cases. Case presentation We present a prenatal 1p36 deletion case with congenital heart diseases and single umbilical artery. Fetal echocardiography showed dextrocardia, ventricular septal defect and pericardial effusion. Fetal karyotype revealed a de novo balanced translocation of 46,XY,t(5;6)(q11.2;q23.3). Chromosomal microarray analysis detected a pathogenic deletion in 1p36.21p36.12, with the size of 6.38 Mb. Further whole genome sequencing revealed that the balanced translocation disrupted the EYA4 and ITGA1 genes. Conclusions Although congenital heart diseases are very common clinical manifestations among patients with 1p36 deletion, dextrocardia is a quite rare cardiac phenotype. This is the second case with 1p36 deletion and dextrocardia, and the first prenatally diagnosed 1p36 deletion case with dextrocardia. Our case indicates that genes in 1p36 are associated with not only heart structural anomalies, but also cardiac laterality development. Our results also imply that the EYA4 gene disrupted by the balanced translocation might be related with the cardiac development.

scholarly journals Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital

2019 ◽  
Vol 47 (11) ◽  
pp. 5508-5517 ◽  
Author(s):  
Jun-Ling Yi ◽  
Wei Zhang ◽  
Da-Hua Meng ◽  
Li-Jie Ren ◽  
Jin Yu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Relevant Information ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Incremental Value ◽  
Genetic Abnormalities ◽  
Fetal Ventriculomegaly ◽  
And Child Health ◽  
Health Hospital

Objective To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA. Methods This retrospective study enrolled female patients with ultrasonographically diagnosed fetal ventriculomegaly. The prevalence, associated anomalies and clinical outcomes of ventriculomegaly were evaluated based on data from a single maternal and child health hospital in southwest China. Results A total of 943 cases of ventriculomegaly were analysed in this study, which were diagnosed at a mean ± SD gestational age of 23.8 ± 8.2 weeks. Non-isolated ventriculomegaly cases had a significantly higher maternal age than isolated cases (29.6 ± 5.5 versus 27.9 ± 4.2 years, respectively) and were also associated with a larger proportion of bilateral (56.1% versus 46.7%, respectively) and severe (12.8% versus 3.7%, respectively) ventriculomegaly. There were 97 cases detected by both karyotyping and microarray analysis. All apparent chromosome abnormalities identified upon karyotyping were detected with the use of microarray analysis. Microarray analysis also reported genetic abnormalities in 20 additional cases not detected by karyotyping. Of these additional 20 cases, 9.3% of pregnancies reported standard genetic variants for clinically relevant information, whereas 11.3% reported uncertain genetic abnormalities. Conclusion Chromosomal microarray analysis is an efficient tool, significantly increasing the diagnostic power for prenatal diagnosis.

scholarly journals Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

2011 ◽  
Vol 131 (3) ◽  
pp. 513-523 ◽  
Author(s):  
Lluís Armengol ◽  
Julián Nevado ◽  
Clara Serra-Juhé ◽  
Alberto Plaja ◽  
Carmen Mediano ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Clinical Utility ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis
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