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      Molecular diagnosis of sex chromosome mosaics in fetal amniotic cells

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          Abstract

          Mosaicism can be observed in karyotype analyses of amniotic fluid cells. Differentiating between true mosaicism and pseudomosaicism and determining mosaic proportions can help avoid misjudgments by doctors and effectively reduce mental and physical harm to pregnant women. However, the detection of mosaicism and mosaic proportions via karyotype analysis and fluorescence in situ hybridization (FISH) is extremely complex. We have developed a novel approach, “segmental duplication quantitative fluorescent PCR” (SD-QF-PCR), to detect mosaicism and mosaic proportions.

          In this study, twenty control samples and fourteen mosaic samples were tested by first-line karyotype analysis; by second-line karyotype analysis, SD-QF-PCR and FISH were used to reassess fetal sex chromosome mosaicism and mosaic proportions.

          Detection of the 20 control samples by second-line karyotype analysis via FISH and SD-QF-PCR showed normal and consistent results. Among the 14 mosaic samples, the numbers of samples showing true mosaicism and pseudomosaicism detected by the three methods were 6 and 8, respectively.

          Our study demonstrates that SD-QF-PCR can be used as a complementary method to traditional cytogenetic analysis of amniotic fluid mosaics and has clinical application value.

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          Shotgun sequence assembly and recent segmental duplications within the human genome.

          Complex eukaryotic genomes are now being sequenced at an accelerated pace primarily using whole-genome shotgun (WGS) sequence assembly approaches. WGS assembly was initially criticized because of its perceived inability to resolve repeat structures within genomes. Here, we quantify the effect of WGS sequence assembly on large, highly similar repeats by comparison of the segmental duplication content of two different human genome assemblies. Our analysis shows that large (> 15 kilobases) and highly identical (> 97%) duplications are not adequately resolved by WGS assembly. This leads to significant reduction in genome length and the loss of genes embedded within duplications. Comparable analyses of mouse genome assemblies confirm that strict WGS sequence assembly will oversimplify our understanding of mammalian genome structure and evolution; a hybrid strategy using a targeted clone-by-clone approach to resolve duplications is proposed.
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            Clinical practice. Prenatal screening for aneuploidy.

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              Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

              Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM); (ii) The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii) The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv) The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-)direct preparation or long term culture; and (v) The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS).
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                Author and article information

                Journal
                Medicine (Baltimore)
                Medicine (Baltimore)
                MEDI
                Medicine
                Lippincott Williams & Wilkins (Hagerstown, MD )
                0025-7974
                1536-5964
                25 June 2021
                25 June 2021
                : 100
                : 25
                : e26331
                Affiliations
                [a ]Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital, Guangxi
                [b ]Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi
                [c ]Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, Guangxi
                [d ]Laboratory Animal Center, Xi’an Jiaotong University Health Science Center, Xi’an, Shaanxi, PR China.
                Author notes
                []Correspondence: Lei Sun, Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, Guangxi 535005, China (e-mail: sunshijie12345@ 123456163.com ).
                Article
                MD-D-20-11335 26331
                10.1097/MD.0000000000026331
                8238360
                34160397
                940e7a52-4628-434b-9681-3ee999eb1923
                Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

                This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0

                History
                : 16 November 2020
                : 10 March 2021
                : 26 May 2021
                Funding
                Funded by: National Natural Science Foundation of China
                Award ID: 81660259
                Award Recipient : Lei Sun
                Categories
                3500
                Research Article
                Diagnostic Accuracy Study
                Custom metadata
                TRUE

                chromosome,fish,karyotype analysis,mosaic,sd-qf-pcr
                chromosome, fish, karyotype analysis, mosaic, sd-qf-pcr

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