Exclusion of chromosomal mosaicism in prenatal diagnosis

1984 ◽  
Vol 67 (1) ◽  
pp. 23-28 ◽  
Author(s):  
Uwe Claussen ◽  
Helmut Sch�fer ◽  
Hans J. Trampisch
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Mosaicism

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

2021 ◽  
Vol 41 (5) ◽  
pp. 631-641 ◽  
Author(s):  
Brynn Levy ◽  
Eva R. Hoffmann ◽  
Rajiv C. McCoy ◽  
Francesca R. Grati
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Mosaicism ◽  
Clinical Implications

scholarly journals Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis

2014 ◽  
Vol 34 (8) ◽  
pp. 739-747 ◽  
Author(s):  
Paola Battaglia ◽  
Anna Baroncini ◽  
Angela Mattarozzi ◽  
Ilaria Baccolini ◽  
Antonella Capucci ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Chromosomal Mosaicism

Prenatal diagnosis of chromosomal mosaicism

1976 ◽  
Vol 88 (2) ◽  
pp. 365-366 ◽  
Author(s):  
Aubrey Milunsky ◽  
Leonard Atkins
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Mosaicism

scholarly journals Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Javier Sánchez ◽  
Lutgardo García-Díaz ◽  
David Chinchón ◽  
Guillermo Antiñolo
Keyword(s):  
Prenatal Diagnosis ◽  
Cell Line ◽  
Ring Chromosome ◽  
Chromosomal Mosaicism ◽  
Chromosome 14 ◽  
Igh Locus ◽  
First Case ◽  
A Cell ◽  
Insight Into ◽  
Facial Dysmorphia

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

scholarly journals Prenatal diagnosis and genetic counseling of low-level sex chromosomal mosaicism with a favorable outcome

2021 ◽  
Vol 60 (5) ◽  
pp. 953-954
Author(s):  
Chaoyun Wang ◽  
Chao Ma ◽  
Xinting Liang ◽  
Yanping Lu ◽  
Zeyu Li
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Favorable Outcome ◽  
Chromosomal Mosaicism ◽  
Low Level

Pitfalls in prenatal diagnosis resulting from chromosomal mosaicism

1972 ◽  
Vol 80 (2) ◽  
pp. 297-299 ◽  
Author(s):  
Nataline B. Kardon ◽  
Patrice R. Chernay ◽  
Lillian Y. Hsu ◽  
Joan L. Martin ◽  
Kurt Hirschhorn
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Mosaicism

scholarly journals Report of some cases with chromosomal mosaicism in prenatal diagnosis and the corresponding results after birth

2021 ◽  
Vol 63 (12) ◽  
pp. 15-18
Author(s):  
Thi Huyen Nguyen ◽  
◽  
Thi Hai Hoang ◽  
Thi Trang Dao ◽  
Thi Ngoc Lan Hoang ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Peripheral Blood ◽  
Blood Cells ◽  
Culture Method ◽  
Complex Problem ◽  
University Hospital ◽  
Chromosomal Mosaicism ◽  
Chromosome Mosaicism ◽  
Medical University

Chromosomal mosaicism in prenatal diagnosis is a complex problem that confuses the perception of true mosaicism or pseudomosaicismand often causes difficulties in genetic counseling. In this study, the authors reported 5 cases of chromosomal mosaicism in prenatal karyotype diagnosisand compared them withthe corresponding karyotype results of children after birth. Amniotic fluid and peripheral blood cells were prepared chromosomal metaphase by culture method and chromosomal analysis according to ISCN 2016 standards. Samples were collected and analysed at Hanoi Medical University Hospital from 2017 to 2020. There were 3 cases of abnormal prenatal chromosomal mosaicism, but the postnatal results were normal, two cases of abnormal prenatal chromosome mosaicism, but had abnormal peripheral blood postnatal chromosome results. These results, together with discussion, will provide more valuable information for the prognosis of chromosome mosaicism cases in prenatal diagnosis and give better genetic counseling for the patients.

The issue of chromosomal mosaicism in prenatal diagnosis

1972 ◽  
Vol 81 (2) ◽  
pp. 422-423 ◽  
Author(s):  
George S. Mannanal
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Mosaicism
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