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[PMID]: 29292496
[Au] Autor:Giambona A; Leto F; Passarello C; Vinciguerra M; Cigna V; Schillaci G; Picciotto F; Lauricella S; Nicolaides KH; Makrydimas G; Damiani G; Maggio A
[Ad] Address:Unit of Hematology for Rare Diseases of the Blood and Blood-forming Organs, Laboratory for Molecular Diagnosis of Rare Diseases, Hospital Villa Sofia Cervello, Palermo, Italy.
[Ti] Title:Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.
[So] Source:Acta Obstet Gynecol Scand;97(3):312-321, 2018 Mar.
[Is] ISSN:1600-0412
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Currently, prenatal diagnosis of genetic disorders requires chorionic villus sampling or amniocentesis carried out after 11 and 16 weeks of gestation, respectively. Celocentesis is a procedure for prenatal diagnosis that could be used from as early as 7 weeks. The present investigation evaluated the feasibility of performing diagnosis for monogenic diseases using celomic fluid containing cells of fetal origin. MATERIAL AND METHODS: Analysis consisted of 489 singleton pregnancies undergoing celocentesis for the prenatal diagnosis of hemoglobinopathies (n = 367) or before surgical termination of pregnancy for social indications (n = 122). Embryo-fetal cells were isolated from celomic fluid using CD71 antibodies or by micromanipulation. Quantitative fluorescent polymerase chain reaction of short tandem repeat sequences of chromosomes 13, 18, 21, X and Y were used to determine the presence of maternal DNA. RESULTS: 357/489 (73%) of celomic fluid samples were contaminated with maternal cells. In two cases, diagnosis was not possible due to the high contamination of celomic fluid. Eighty-seven (23.8%) fetuses were affected by hemoglobinopathies and, in five cases, chromosomal aneuploidies were found, including three cases of trisomy 21, one of trisomy 13 and one of triploidy. In all cases, the diagnosis of hemoglobinopathies and chromosomal abnormalities was confirmed by molecular and traditional cytogenetic analysis after amniocentesis, chorionic villus or placental tissue collection following pregnancy termination. CONCLUSIONS: The findings of this study demonstrate that embryo-fetal cell selection from celomic fluid allows reliable and early prenatal diagnosis of hemoglobinopathies and can give more information on any fetal aneuploidy following the control of maternal contamination by quantitative fluorescent-PCR.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180223
[Lr] Last revision date:180223
[St] Status:In-Data-Review
[do] DOI:10.1111/aogs.13287

  2 / 1278 MEDLINE  
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[PMID]: 29436713
[Au] Autor:Reimers RM; Mason-Suares H; Little SE; Bromley B; Reiff ES; Dobson LJ; Wilkins-Haug L
[Ad] Address:Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.
[Ti] Title:When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens.
[So] Source:Prenat Diagn;, 2018 Feb 13.
[Is] ISSN:1097-0223
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: This study characterizes cytogenetic abnormalities with ultrasound findings to refine counseling following negative cell-free DNA (cfDNA). METHODS: A retrospective cohort of pregnancies with chromosome abnormalities and ultrasound findings was examined to determine the residual risk following negative cfDNA. Cytogenetic data was categorized as cfDNA detectable for aneuploidies of chromosomes 13, 18, 21, X, or Y or non-cfDNA detectable for other chromosome abnormalities. Ultrasound reports were categorized as structural anomaly, nuchal translucency (NT) ≥3.0 mm, or other "soft markers". Results were compared using chi squared and Fishers exact tests. RESULTS: Of the 498 fetuses with cytogenetic abnormalities and ultrasound findings, 16.3% (81/498) had non-cfDNA detectable results. In the first, second, and third trimesters, 12.4% (32/259), 19.5% (42/215), and 29.2% (7/24) had non-cfDNA detectable results respectively. The first trimester non-cfDNA detectable results reduced to 7.7% (19/246) if triploidy was detectable by cfDNA testing. For isolated first trimester NT of 3.0-3.49 mm, 15.8% (6/38) had non-cfDNA detectable results, while for NT ≥3.5 mm, it was 12.3% (20/162). For cystic hygroma, 4.3% (4/94) had non-cfDNA detectable results. CONCLUSIONS: Counseling for residual risk following cfDNA in the presence of an ultrasound finding is impacted by gestational age, ultrasound finding, and cfDNA detection of triploidy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[St] Status:Publisher
[do] DOI:10.1002/pd.5233

  3 / 1278 MEDLINE  
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[PMID]: 29190125
[Au] Autor:de Sousa JT; Allen SK; Wolfe BM; Small JM
[Ad] Address:Aquaculture Genetics and Breeding Technology Center. Virginia Institute of Marine Science, Gloucester Point, VA 23062, USA.
[Ti] Title:Mitotic instability in triploid and tetraploid one-year-old eastern oyster, Crassostrea virginica, assessed by cytogenetic and flow cytometry techniques.
[So] Source:Genome;61(2):79-89, 2018 Feb.
[Is] ISSN:1480-3321
[Cp] Country of publication:Canada
[La] Language:eng
[Ab] Abstract:For commercial oyster aquaculture, triploidy has significant advantages. To produce triploids, the principal technology uses diploid × tetraploid crosses. The development of tetraploid brood stock for this purpose has been successful, but as more is understood about tetraploids, it seems clear that chromosome instability is a principal feature in oysters. This paper is a continuation of work to investigate chromosome instability in polyploid Crassostrea virginica. We established families between tetraploids-apparently stable (non-mosaic) and unstable (mosaic)-and normal reference diploids, creating triploid groups, as well as tetraploids between mosaic and non-mosaic tetraploids. Chromosome loss was about the same for triploid juveniles produced from either mosaic or non-mosaic tetraploids or from either male or female tetraploids. However, there was a statistically significant difference in chromosome loss in tetraploid juveniles produced from mosaic versus non-mosaic parents, with mosaics producing more unstable progeny. These results confirm that chromosome instability, as manifested in mosaic tetraploids, is of little concern for producing triploids, but it is clearly problematic for tetraploid breeding. Concordance between the results from cytogenetics and flow cytometry was also tested for the first time in oysters, by assessing the ploidy of individuals using both techniques. Results between the two were non-concordant.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Process
[do] DOI:10.1139/gen-2017-0173

  4 / 1278 MEDLINE  
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[PMID]: 29254754
[Au] Autor:Kingdom JC; Audette MC; Hobson SR; Windrim RC; Morgen E
[Ad] Address:Department of Obstetrics and Gynecology, Maternal-Fetal Medicine Division, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. Electronic address: john.kingdom@sinaihealthsystem.ca.
[Ti] Title:A placenta clinic approach to the diagnosis and management of fetal growth restriction.
[So] Source:Am J Obstet Gynecol;218(2S):S803-S817, 2018 Feb.
[Is] ISSN:1097-6868
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Effective detection and management of fetal growth restriction is relevant to all obstetric care providers. Models of best practice to care for these patients and their families continue to evolve. Since much of the disease burden in fetal growth restriction originates in the placenta, the concept of a multidisciplinary placenta clinic program, managed primarily within a maternal-fetal medicine division, has gained popularity. In this context, fetal growth restriction is merely one of many placenta-related disorders that can benefit from an interdisciplinary approach, incorporating expertise from specialist perinatal ultrasound and magnetic resonance imaging, reproductive genetics, neonatal pediatrics, internal medicine subspecialties, perinatal pathology, and nursing. The accurate diagnosis and prognosis for women with fetal growth restriction is established by comprehensive clinical review and detailed sonographic evaluation of the fetus, combined with uterine artery Doppler and morphologic assessment of the placenta. Diagnostic accuracy for placenta-mediated fetal growth restriction may be enhanced by quantification of maternal serum biomarkers including placenta growth factor alone or combined with soluble fms-like tyrosine kinase-1. Uterine artery Doppler is typically abnormal in most instances of early-onset fetal growth restriction and is associated with coexistent preeclampsia and underlying maternal vascular malperfusion pathology of the placenta. By contrast, rare but potentially more serious underlying placental diagnoses, such as massive perivillous fibrinoid deposition, chronic histiocytic intervillositis, or fetal thrombotic vasculopathy, may be associated with normal uterine artery Doppler waveforms. Despite minor variations in placental size, shape, and cord insertion, placental function remains, largely normal in the general population. Consequently, morphologic assessment of the placenta is not currently incorporated into current screening programs for placental complications. However, placental ultrasound can be diagnostic in the context of fetal growth restriction, for example in Breus' mole and triploidy, which in turn may enhance diagnosis and management. Several examples are illustrated in our figures and supplementary videos. Recent advances in the ability of multiparameter screening and intervention programs to reduce the risk of severe preeclampsia will likely increase efforts to deliver similar improvements for women at risk of fetal growth restriction. Placental pathology is important because the underlying pathologies associated with fetal growth restriction have a wide range of recurrence risks. Rare conditions such as massive perivillous fibrinoid deposition or chronic histolytic intervillositis may recur in >50% of subsequent pregnancies. Postpartum care in a placenta-focused program can provide effective counseling for modifiable maternal risk factors, and can assist in planning future pregnancy care based on the pathologic basis of fetal growth restriction.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:In-Data-Review

  5 / 1278 MEDLINE  
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[PMID]: 29188617
[Au] Autor:Zhou L; Chen C; Zheng Z; Wu H; Xie F; Lin X; Xiang Y; Xu X; Tang S
[Ad] Address:Key Laboratory for Birth Defect Research of Wenzhou City, Central Laboratory, Department of Laboratory Medicine, Central Hospital of Wenzhou, Zhejiang 325000, China. Email: tsh006@126.com.
[Ti] Title:[SNP array analysis of three cases with partial 21q trisomy].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(6):861-865, 2017 Dec 10.
[Is] ISSN:1003-9406
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To analyze three cases with partial 21q trisomy, and correlate their genotypes with phenotypes. METHODS: G-banding chromosomal analysis and single nucleotide polymorphism (SNP array) were performed for the three cases and their parents. RESULTS: SNP array has detected partial 21q trisomy in three cases and one mother, with variable size and location of the duplications. Case 1 harbored a 12.35 Mb duplication at 21q22.11q22.3, which spanned the Down syndrome critical region. Case 2 harbored a 35.32 Mb duplication at 9p24.3p13.3 and a 14.42 Mb duplication at 21q11.2q21.3, with the former spanning the partial 9p trisomy syndrome critical region excluding the Down syndrome critical region, and was inherited from his mother. Case 3 harbored a 4.17 Mb tetraploidy at 21q11.2q21.1 in the form of mosaicism, which spared the Down syndrome critical region. His mother carried a 4.17 Mb triploidy at 21q11.2q21.1, which was also a mosaicism. CONCLUSION: Partial 21q trisomy may occur in various forms and its clinical phenotypes are heterogeneous. Combined use of genetic techniques, particularly SNP array, is crucial for diagnosing partial 21q trisomy and delineating its genotype-phenotype correlation.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Process
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.06.017

  6 / 1278 MEDLINE  
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[PMID]: 29360831
[Au] Autor:Knytl M; Kalous L; Rylková K; Choleva L; Merilä J; Ráb P
[Ad] Address:Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic.
[Ti] Title:Morphologically indistinguishable hybrid Carassius female with 156 chromosomes: A threat for the threatened crucian carp, C. carassius, L.
[So] Source:PLoS One;13(1):e0190924, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The crucian carp Carassius carassius (Linnaeus, 1758), is native to many European freshwaters. Despite its wide distribution, the crucian carp is declining in both the number and sizes of populations across much of its range. Here we studied 30 individuals of a putative pure population from Helsinki, Finland. Despite clear external morphological features of C. carassius, an individual was of a higher ploidy level than the others. We therefore applied a set of molecular genetic (S7 nuclear and cytochrome b mitochondrial genes) and cytogenetic tools (sequential fluorescent 4', 6-diamidino-2-phenylindole [DAPI], Chromomycin A3 [CMA3], C-banding and in situ hybridization [FISH] with both 5S and 28S ribosomal DNA probes) to determine its origin. While all examined characteristics of a diploid representative male (CCAHe2Fi) clearly corresponded to those of C. carassius, a triploid individual (CCAHe1Fi) was more complex. Phylogenetic analysis revealed that the nuclear genome of CCAHe1Fi contained three haploid sets: two C. gibelio and one C. carassius. However the mitochondrial DNA was that of C. gibelio, demonstrating its hybrid origin. The FISH revealed three strong (more intensive) 5S rDNA loci, confirming the triploid status, and an additional 24 weak (less intensive) signals were observed in the chromosome complement of CCAHe1Fi. On the other hand, only two strong and 16 weak 5S rDNA signals were visible on the chromosomes of the CCAHe2Fi male. 28S rDNA FISH revealed four strong signals in both CCAHe1Fi and CCAHe2Fi individuals. CMA3 staining revealed four to six CMA3-positive bands of CCAHe1Fi, while that of diploids contained only two to four. The fact that a polyploid hybrid Carassius female with a strong invasive potential may share morphological characters typical for endangered C. carassius highlights a need to combine genetic investigations of Carassius cryptic diversity with conservation measures of C. carassius in Europe.
[Mh] MeSH terms primary: Carps/anatomy & histology
Carps/genetics
Triploidy
[Mh] MeSH terms secundary: Animals
Carps/classification
Chromosome Banding
Diploidy
Endangered Species
Europe
Female
Finland
Genetic Markers
Genetic Variation
Hybridization, Genetic
In Situ Hybridization, Fluorescence
Karyotype
Male
Phylogeny
Species Specificity
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Genetic Markers)
[Em] Entry month:1802
[Cu] Class update date: 180206
[Lr] Last revision date:180206
[Js] Journal subset:IM
[Da] Date of entry for processing:180124
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190924

  7 / 1278 MEDLINE  
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[PMID]: 29377646
[Au] Autor:Holmes LB; Nasri H; Beroukhim R; Hunt AT; Roberts DJ; Toufaily MH; Westgate MN
[Ad] Address:Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
[Ti] Title:Stillborn Infants: Associated Malformations.
[So] Source:Birth Defects Res;110(2):114-121, 2018 Jan.
[Is] ISSN:2472-1727
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the United States. Many of these stillborn infants have associated malformations, including chromosome abnormalities, neural tube defects, and malformation syndromes. Other causes are abnormalities of the placenta and maternal conditions, such as pre-eclampsia and obesity. A consecutive sample of malformed stillborn infants can establish the relative frequency and severity of the associated malformations. METHODS: Stillbirths were identified in the Active Malformations Surveillance Program at Brigham and Women's Hospital (1972-2012). The findings at autopsy, including the findings in the placenta and the results of diagnostic studies, were compiled. RESULTS: One hundred twenty-seven stillborn infants with malformations were identified at autopsy among 289,365 pregnancies, including trisomies 21, 18, and 13; 45,X; triploidy; anencephaly; lower urinary tract obstruction; holoprosencephaly and severe heart defects, such as hypoplastic left heart syndrome and tetralogy of Fallot with pulmonary atresia. The severity of the abnormalities in stillborn infants was more severe than the spectrum of abnormalities identified in live-born infants. CONCLUSION: An autopsy of the stillborn fetus, including chromosome microarray and an examination of the placenta, can identify the underlying causes of the stillbirth. This review of stillborn fetuses with malformations showed that several different lethal malformations and heart defects are more common than among live-born infants. These postmortem examinations can improve the counseling of the parents about risks in future pregnancies. Birth Defects Research 110:114-121, 2018.© 2018 Wiley Periodicals, Inc.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180129
[Lr] Last revision date:180129
[St] Status:In-Data-Review
[do] DOI:10.1002/bdr2.1097

  8 / 1278 MEDLINE  
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[PMID]: 29338474
[Au] Autor:Ferreira C; Rouxinol-Dias AL; Loureiro T; Nicolaides K
[Ad] Address:a Medical School, University of Porto , Porto , Portugal.
[Ti] Title:Subarachnoid space diameter in chromosomally abnormal fetuses at 11-13 weeks' gestation.
[So] Source:J Matern Fetal Neonatal Med;:1-5, 2018 Jan 16.
[Is] ISSN:1476-4954
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11-13 weeks' gestation. METHODS: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11-13 weeks' gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n = 40; trisomy 18, n = 19; trisomy 13, n = 7; triploidy, n = 14; Turner syndrome, n = 8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses. A total of 20 head volumes were randomly selected and all the measurements were recorded by two different observers to examine the interobserver variability in measurements. RESULTS: In euploid fetuses, the anteroposterior, transverse and sagittal diameters of the subarachnoid space increased with BPD. The median of the observed to expected diameters for BPD were significantly increased in triploidy and trisomy 13 but were not significantly altered in trisomies 21 and 18 or Turner syndrome. In triploidy, the subarachnoid space diameters for BPD were above the 95th centile of euploid fetuses in 92.9% (13 of 14) cases. The intraclass reliability or agreement was excellent for all three subarachnoid space diameters. CONCLUSION: Most fetuses with triploidy at 11-13 weeks' gestation demonstrate increased subarachnoid space diameters.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180117
[Lr] Last revision date:180117
[St] Status:Publisher
[do] DOI:10.1080/14767058.2018.1425833

  9 / 1278 MEDLINE  
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[PMID]: 29059452
[Au] Autor:Sagi-Dain L; Peleg A; Sagi S
[Ad] Address:Senior Obstetrician, Department of Obstetrics and Gynecology, and Senior Geneticist.
[Ti] Title:First-Trimester Crown-Rump Length and Risk of Chromosomal Aberrations-A Systematic Review and Meta-analysis.
[So] Source:Obstet Gynecol Surv;72(10):603-609, 2017 Oct.
[Is] ISSN:1533-9866
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Importance: Lower than expected first-trimester crown-rump length (CRL) is a common sonographic finding, usually leading to reassessment of gestational age. Objective: The aim of this study was to perform a meta-analysis defining the risk of chromosomal aberrations in pregnancies with decreased first-trimester CRL. Evidence Acquisition: A search was conducted by a research librarian in 5 databases, with no time or language restrictions. Original researches examining the risk of chromosomal aberrations in pregnancies with low CRL were selected. The effect estimates were presented as odds ratios with 95% confidence intervals). Results: Following screening of 3894 references, 12 articles were selected. Only 2 articles directly fulfilled the review goals, comparing the rates of chromosomal aberrations in small-CRL versus normal-CRL fetuses. Combined analysis of these 2 studies, encompassing a total of 403 fetuses with small CRL and 4047 control pregnancies, yielded an odds ratio of 5.54 (95% confidence interval, 1.2-26.1) for abnormal karyotype in small-CRL fetuses. Ten studies compared CRL in fetuses with specific chromosomal aberrations to pregnancies with normal karyotype, yielding a significant growth delay in fetuses with trisomy 18 (6 of 7 articles) and triploidy, but not in fetuses with trisomy 21. Overall quality of evidence was rated as "very low" using Grading of Recommendations Assessment, Development and Evaluation criteria. Conclusions and Relevance: Our review results indicate that low first-trimester CRL might be associated with a significantly increased risk of chromosomal anomalies. Thus, invasive prenatal testing or cell-free DNA screening might be offered in such pregnancies, particularly if dating is certain.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171023
[Lr] Last revision date:171023
[St] Status:In-Process
[do] DOI:10.1097/OGX.0000000000000490

  10 / 1278 MEDLINE  
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[PMID]: 29039167
[Au] Autor:Sun Y; Luo Y; Qian Y; Dong M; Jin F
[Ad] Address:Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
[Ti] Title:[Single nucleotide polymorphism-array in genetic analysis of chorionic villi from early spontaneous miscarriages].
[So] Source:Zhejiang Da Xue Xue Bao Yi Xue Ban;46(3):262-267, 2017 May 25.
[Is] ISSN:1008-9292
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To assess the clinical application of single nucleotide polymorphism (SNP)-array in detecting abnormal chromosome karyotypes of chorionic villi from early spontaneous abortuses. METHODS: A total of 861 chorionic villus samples from unexplained early spontaneous abortion were collected from Women's Hospital, Zhejiang University School of Medicine during October 2013 and June 2016, and SNP-array was performed to detect genome-wide DNA copy number variants. RESULTS: All samples were successfully tested by SNP-array and 440 cases (51.10%) were found to have abnormal chromosome constitutions. Aneuploidy was identified in 358 (41.58%) cases, distributing in all chromosomes except chromosome 1. Triploidy and haploidy were found in 21 (2.44%) and one case (0.12%), respectively. Thirty-seven cases (4.30%) were identified as single chromosomal segment deletion or duplication, 25 of which were less than 10 Mb in size. For 6 of 25 cases with unclear pathogenesis, family studies were carried out to identify origin of deletion or duplication, showing that 4 cases were de novo and 2 were inherited from one of the parents. Twenty-three cases (2.67%) showed two chromosomal deletion/duplication segments. Combining with karyotyping and fluorescence hybridization, 6 cases were identified as de novo aberration and 11 carried small-size segmental balanced abnormality. CONCLUSIONS: SNP-array can provide a relatively comprehensive genetic analysis of chorionic villi and can detect various kinds of chromosome abnormalities in spontaneous miscarriages.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:In-Data-Review


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