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

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

scholarly journals Clinical implications of prenatal diagnosis of aorto-left ventricular tunnel on postnatal treatment and final outcome

2017 ◽  
Vol 59 (3) ◽  
pp. 342 ◽  
Author(s):  
Jovan Kosutic ◽  
Sergej Prijic ◽  
Mila Stajevic ◽  
Marija Kalaba ◽  
Sanja Ninic ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Left Ventricular ◽  
Final Outcome ◽  
Clinical Implications ◽  
Postnatal Treatment

scholarly journals Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications

2017 ◽  
Vol 102 (10) ◽  
pp. 3775-3782 ◽  
Author(s):  
Theodora Pappa ◽  
João Anselmo ◽  
Sunnee Mamanasiri ◽  
Alexandra M Dumitrescu ◽  
Roy E Weiss ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Thyroid Hormone ◽  
Clinical Implications ◽  
Resistance To Thyroid Hormone

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.

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
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