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[PMID]: 29263053
[Au] Autor:Khan MR; Bukhari I; Junxiang T; Hui L; Muhammad N; Fan C; Zhu J; Wu M
[Ad] Address:Translational Research Institute, School of Medicine, Henan Provincial People's Hospital, Henan University, Zhengzhou, China.
[Ti] Title:A Novel Sex Chromosome Mosaicism 45,X/45,Y/46,XY/46,YY/47,XYY Causing Ambiguous Genitalia.
[So] Source:Ann Clin Lab Sci;47(6):761-764, 2017 Nov.
[Is] ISSN:1550-8080
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Sex chromosomal mosaicism has been considered as a major cause of human sexual differentiation disorders, like partial virilization and ambiguous genitalia. 45,X/46,XX, 45,X/46,XY and 46,XY/47,XXY are three most common sex chromosome mosaics associated with human ambiguous genitalia. Here, we report the case of a 3-year-old boy with ambiguous genitalia, bilateral cryptorchidism, and with an inguinal hernia. G banded cytological karyotyping and FISH analyses revealed that the patient has extremely rare and novel sex chromosome mosaic 45,X/45,Y/46,XY/46,YY/47,XYY karyotype. These cells exist in different percentages, important for phenotypic appearance of the patient. This is a first report of an unusual mosaic karyotype causing ambiguous genitalia.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171221
[Lr] Last revision date:171221
[St] Status:In-Process

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[PMID]: 29125628
[Au] Autor:Badeau M; Lindsay C; Blais J; Nshimyumukiza L; Takwoingi Y; Langlois S; Légaré F; Giguère Y; Turgeon AF; Witteman W; Rousseau F
[Ad] Address:Population Health and Optimal Health Practices Research Axis, CHU de Québec - Université Laval, 45 Rue Leclerc, Québec City, QC, Canada, G1L 3L5.
[Ti] Title:Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
[So] Source:Cochrane Database Syst Rev;11:CD011767, 2017 Nov 10.
[Is] ISSN:1469-493X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method. Two approaches used for gNIPT are massively parallel shotgun sequencing (MPSS) and targeted massively parallel sequencing (TMPS). OBJECTIVES: To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies. The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. SEARCH METHODS: We searched 13 databases (including MEDLINE, Embase and Web of Science) from 1 January 2007 to 12 July 2016 without any language, search filter or publication type restrictions. We also screened reference lists of relevant full-text articles, websites of private prenatal diagnosis companies and conference abstracts. SELECTION CRITERIA: Studies could include pregnant women of any age, ethnicity and gestational age with singleton or multifetal pregnancy. The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. DATA COLLECTION AND ANALYSIS: Two review authors independently carried out study selection, data extraction and quality assessment (using the QUADAS-2 tool). Where possible, hierarchical models or simpler alternatives were used for meta-analysis. MAIN RESULTS: Sixty-five studies of 86,139 pregnant women (3141 aneuploids and 82,998 euploids) were included. No study was judged to be at low risk of bias across the four domains of the QUADAS-2 tool but applicability concerns were generally low. Of the 65 studies, 42 enrolled pregnant women at high risk, five recruited an unselected population and 18 recruited cohorts with a mix of prior risk of fetal aneuploidy. Among the 65 studies, 44 evaluated MPSS and 21 evaluated TMPS; of these, five studies also compared gNIPT with a traditional screening test (biochemical, ultrasound or both). Forty-six out of 65 studies (71%) reported gNIPT assay failure rate, which ranged between 0% and 25% for MPSS, and between 0.8% and 7.5% for TMPS.In the population of unselected pregnant women, MPSS was evaluated by only one study; the study assessed T21, T18 and T13. TMPS was assessed for T21 in four studies involving unselected cohorts; three of the studies also assessed T18 and 13. In pooled analyses (88 T21 cases, 22 T18 cases, eight T13 cases and 20,649 unaffected pregnancies (non T21, T18 and T13)), the clinical sensitivity (95% confidence interval (CI)) of TMPS was 99.2% (78.2% to 100%), 90.9% (70.0% to 97.7%) and 65.1% (9.16% to 97.2%) for T21, T18 and T13, respectively. The corresponding clinical specificity was above 99.9% for T21, T18 and T13.In high-risk populations, MPSS was assessed for T21, T18, T13 and 45,X in 30, 28, 20 and 12 studies, respectively. In pooled analyses (1048 T21 cases, 332 T18 cases, 128 T13 cases and 15,797 unaffected pregnancies), the clinical sensitivity (95% confidence interval (CI)) of MPSS was 99.7% (98.0% to 100%), 97.8% (92.5% to 99.4%), 95.8% (86.1% to 98.9%) and 91.7% (78.3% to 97.1%) for T21, T18, T13 and 45,X, respectively. The corresponding clinical specificities (95% CI) were 99.9% (99.8% to 100%), 99.9% (99.8% to 100%), 99.8% (99.8% to 99.9%) and 99.6% (98.9% to 99.8%). In this risk group, TMPS was assessed for T21, T18, T13 and 45,X in six, five, two and four studies. In pooled analyses (246 T21 cases, 112 T18 cases, 20 T13 cases and 4282 unaffected pregnancies), the clinical sensitivity (95% CI) of TMPS was 99.2% (96.8% to 99.8%), 98.2% (93.1% to 99.6%), 100% (83.9% to 100%) and 92.4% (84.1% to 96.5%) for T21, T18, T13 and 45,X respectively. The clinical specificities were above 100% for T21, T18 and T13 and 99.8% (98.3% to 100%) for 45,X. Indirect comparisons of MPSS and TMPS for T21, T18 and 45,X showed no statistical difference in clinical sensitivity, clinical specificity or both. Due to limited data, comparative meta-analysis of MPSS and TMPS was not possible for T13.We were unable to perform meta-analyses of gNIPT for 47,XXX, 47,XXY and 47,XYY because there were very few or no studies in one or more risk groups. AUTHORS' CONCLUSIONS: These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. However, most of the gNIPT studies were prone to bias, especially in terms of the selection of participants.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171110
[Lr] Last revision date:171110
[St] Status:Publisher
[do] DOI:10.1002/14651858.CD011767.pub2

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[PMID]: 29032050
[Au] Autor:Petersen AK; Cheung SW; Smith JL; Bi W; Ward PA; Peacock S; Braxton A; Van Den Veyver IB; Breman AM
[Ad] Address:Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
[Ti] Title:Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
[So] Source:Am J Obstet Gynecol;, 2017 Oct 13.
[Is] ISSN:1097-6868
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management. OBJECTIVE: The objective of this study was to determine the positive predictive value and false-positive rates for different chromosomal abnormalities identified by cell-free fetal DNA screening using a large data set of diagnostic testing results on invasive samples submitted to the laboratory for confirmatory studies. STUDY DESIGN: We tested 712 patient samples sent to our laboratory to confirm a cell-free fetal DNA screening result, indicating high risk for a chromosome abnormality. We compiled data from all cases in which the indication for confirmatory testing was a positive cell-free fetal DNA screen, including the common trisomies, sex chromosomal aneuploidies, microdeletion syndromes, and other large genome-wide copy number abnormalities. Testing modalities included fluorescence in situ hybridization, G-banded karyotype, and/or chromosomal microarray analysis performed on chorionic villus samples, amniotic fluid, or postnatally obtained blood samples. Positive predictive values and false-positive rates were calculated from tabulated data. RESULTS: The positive predictive values for trisomy 13, 18, and 21 were consistent with previous reports at 45%, 76%, and 84%, respectively. For the microdeletion syndrome regions, positive predictive values ranged from 0% for detection of Cri-du-Chat syndrome and Prader-Willi/Angelman syndrome to 14% for 1p36 deletion syndrome and 21% for 22q11.2 deletion syndrome. Detection of sex chromosomal aneuploidies had positive predictive values of 26% for monosomy X, 50% for 47,XXX, and 86% for 47,XXY. CONCLUSION: The positive predictive values for detection of common autosomal and sex chromosomal aneuploidies by cell-free fetal DNA screening were comparable with other studies. Identification of microdeletions was associated with lower positive predictive values and higher false-positive rates, likely because of the low prevalence of the individual targeted microdeletion syndromes in the general population. Although the obtained positive predictive values compare favorably with those seen in traditional screening approaches for common aneuploidies, they highlight the importance of educating clinicians and patients on the limitations of cell-free fetal DNA screening tests. Improvement of the cell-free fetal DNA screening technology and continued monitoring of its performance after introduction into clinical practice will be important to fully establish its clinical utility. Nonetheless, our data provide valuable information that may aid result interpretation, patient counseling, and clinical decision making/management.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171025
[Lr] Last revision date:171025
[St] Status:Publisher

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[PMID]: 28981949
[Au] Autor:Jia Y; Zhang Y; Hao W; Shi D; Meng J; Zhao H; Lian Y; Xie L; Wang X
[Ad] Address:Center of Prenatal Diagnosis, Shandong Provincial Hospital Affiliated to Shandong University; Maternal and Child Health Care Hospital of Shandong Province; Key Laboratory of Birth Regulation and Control Technology of the National Health and Family Planning Commission, Jinan, Shandong 250021, China. wxt65@vip.163.com.
[Ti] Title:[Result of prenatal diagnosis for 151 high-risk women by noninvasive prenatal screening based on high-throughput sequencing].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(5):759-763, 2017 Oct 10.
[Is] ISSN:1003-9406
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing. METHODS: One hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis. RESULTS: One hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies. Amniocytic karyotyping and CMA analysis has confirmed 81 cases of trisomy 21, 15 cases of trisomy 18, 10 cases of 47,XXY, 4 cases of 47,XXX, 2 cases of 47,XYY and 1 case of 46,X,del(X)(q26.1). Two trisomy 21, two trisomy 18, 2 trisomy 13, and 23 cases of sex chromosomal aneuploidies were verified as false positives. For 9 women with pathological fetal CNVs detected by NIPS, combined fetal karyotyping and CMA has confirmed 1 case of chromosome 13 microdeletion, 1 case of chromosome 18 microduplication, and 1 case of chromosome 18 deletion. For a case with 30 Mb duplication of chromosome 2 and 25 Mb duplication of chromosome 8, CMA analysis had no positive finding, while fetal umbilical cord blood karyotyping has yielded a 46,XX,dup(2)(p23.1p25.3)[13]/46,XX[87] karyotype. The remaining 5 cases were confirmed as false positive results. CONCLUSION: Combined fetal karyotyping and CMA has provided a powerful tool for verifying high-risk fetuses signaled by NIPS.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171005
[Lr] Last revision date:171005
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.05.030

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[PMID]: 28848190
[Au] Autor:Bevilacqua E; Ordóñez E; Hurtado I; Rueda L; Mazzone E; Cirigliano V; Jani JC
[Ad] Address:Department of Obstetrics and Gynecology, University Hospital Brugmann, Université Libre de Bruxelles, Brussels, Belgium.
[Ti] Title:Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance.
[So] Source:Fetal Diagn Ther;, 2017 Aug 23.
[Is] ISSN:1421-9964
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To study patient choice regarding testing for sex chromosome aneuploidy (SCA) and the performance of cell-free DNA (cfDNA) screening for SCA. METHODS: Patient choice regarding screening for SCA and factors influencing this choice were evaluated in a single center. In a subsequent two-center study, cases that screened positive for SCA were analyzed to determine the positive predictive value (PPV) for each SCA. RESULTS: In all, 1,957 (61.9%) of the 3,162 patients undergoing cfDNA testing opted for SCA screening. Regression analysis demonstrated that independent predictors of a patient's decision for SCA were earlier gestational age, spontaneous conception, and cfDNA chosen as a primary method of screening. A total of 161 cases screened positive for SCA and follow-up data were available for 118 (73.3%). Forty-six of the 61 cases of 45,X were false-positive results and 15 were concordant with the fetal karyotype (PPV = 24.6%). Seventeen of the 22 cases of 47,XXX were false positive and 5 concordant (PPV = 22.7%). Eleven of the 30 cases of 47,XXY were false positive and 19 concordant (PPV = 63.3%). All 5 cases of 47,XYY were correctly identified, thus yielding a PPV of 100%. CONCLUSION: More than half of the patients undergoing cfDNA aneuploidy screening also opted for SCA testing, but they were less likely to do so in the presence of an increased risk of trisomy. SCAs involving the X chromosome had a lower PPV than those involving the Y chromosome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170829
[Lr] Last revision date:170829
[St] Status:Publisher
[do] DOI:10.1159/000479507

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[PMID]: 28616926
[Au] Autor:Hu T; Zhang Z; Wang JM; Liu HQ; Liu ZY; Wang H; Liu SL
[Ad] Address:Department of Obstetric and Gynecologic, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
[Ti] Title:[Clinical Application of Chromosomal Microarray Analysis in Karyotyping with Uncertain Genomic Rearrangement].
[So] Source:Sichuan Da Xue Xue Bao Yi Xue Ban;48(3):460-463, 2017 May.
[Is] ISSN:1672-173X
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVES: To apply chromosomal microarray analysis (CMA) in the diagnosis of karyotyping with uncertain genomic rearrangement. METHODS: We retrospectively reviewed 48 samples (34 samples of amniotic fluid, 14 samples of peripheral blood) of karyotype analyses with uncertain genomic rearrangement in patients admitted to our department from September 2014 to April 2016. The CMA results were compared with those of karyotyping. RESULTS: The 48 samples consisted of 13 samples with marker chromosomes, 19 samples with derivative chromosomes, and 16 samples with balanced translocation. Sixteen cases (33.33%) were detected with abnormalities by CMA. In the 32 samples with marker chromosomes or derivative chromosomes, 16 cases were detected with deletions or duplications (>5 Mb) by CMA, including 1 case 21-trisomy, 2 cases XYY syndrome and 3 cases microdeletion/ microduplication syndromes (22q11 duplication syndrome, Wolf-Hirschhorn syndrome and 15q26 overgrowth syndrome). In the 16 balanced translocation cases, all revealed negative results in CMA. CONCLUSIONS: CMA can confirm the karyotyping with uncertain genomic rearrangement and clarify its clinical significance.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170615
[Lr] Last revision date:170615
[St] Status:In-Data-Review

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[PMID]: 28603073
[Au] Autor:Sun L; Fan Z; Long J; Weng X; Tang W; Pang W
[Ad] Address:Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, Guangxi 535005, PR China. Electronic address: sunshijie12345@163.com.
[Ti] Title:Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, X, and Y using segmental duplication quantitative fluorescent PCR (SD-QF-PCR).
[So] Source:Gene;627:72-78, 2017 Sep 05.
[Is] ISSN:1879-0038
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: In our previous studies, the rapid diagnosis of aneuploidy has been achieved using the segmental duplication molecular markers-based SD-QF-PCR technique. However, it is also insufficient due to the drawbacks including less detection loci and incompetence in single-tube detection. METHODS: In this paper, we developed 13 new segmental duplications as molecular markers, as well as designed 13 pairs of primers and 1 fluorescence-labeled universal primer, which could detect chromosome aneuploidies in one PCR tube. RESULTS: Two hundred and thirty samples were detected using SD-QF-PCR, the samples were collected from individuals with trisomy 21 (n=16); trisomy 18 (n=4); trisomy 13 (n=3); 45,X (n=3); 47,XXY (n=2); 47,XYY (n=2); suspected mosaic 46,XX/46,XY (n=2); and unaffected controls (n=198). CONCLUSIONS: The detection results of SD-QF-PCR were consistent with those of conventional karyotype analysis. SD-QF-PCR based on the newly developed segmental duplications enables the single-tube and multi-locus simultaneous detection on the number of chromosomes 13, 18, 21, X and Y. Therefore, this technique offers a new alternative for the diagnosis of chromosome aneuploidies.
[Mh] MeSH terms primary: Polymerase Chain Reaction/methods
Prenatal Diagnosis/methods
Trisomy
[Mh] MeSH terms secundary: DNA Primers/genetics
Humans
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (DNA Primers)
[Em] Entry month:1708
[Cu] Class update date: 170807
[Lr] Last revision date:170807
[Js] Journal subset:IM
[Da] Date of entry for processing:170613
[St] Status:MEDLINE

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[PMID]: 28357876
[Au] Autor:Zhang B; Lu BY; Yu B; Zheng FX; Zhou Q; Chen YP; Zhang XQ
[Ad] Address:Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.
[Ti] Title:Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
[So] Source:J Int Med Res;45(2):621-630, 2017 Apr.
[Is] ISSN:1473-2300
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).
[Mh] MeSH terms primary: Aneuploidy
DNA/genetics
Klinefelter Syndrome/diagnosis
Noonan Syndrome/diagnosis
Sex Chromosome Disorders of Sex Development/diagnosis
Sex Chromosome Disorders/diagnosis
Trisomy/diagnosis
XYY Karyotype/diagnosis
[Mh] MeSH terms secundary: Adult
Chromosomes, Human, X/genetics
DNA/blood
Female
Fetus
High-Throughput Nucleotide Sequencing
Humans
Karyotyping
Klinefelter Syndrome/blood
Klinefelter Syndrome/genetics
Klinefelter Syndrome/pathology
Noonan Syndrome/blood
Noonan Syndrome/genetics
Noonan Syndrome/pathology
Predictive Value of Tests
Pregnancy
Pregnancy Trimester, Second
Prenatal Diagnosis/statistics & numerical data
Sex Chromosome Aberrations
Sex Chromosome Disorders/blood
Sex Chromosome Disorders/genetics
Sex Chromosome Disorders/pathology
Sex Chromosome Disorders of Sex Development/blood
Sex Chromosome Disorders of Sex Development/genetics
Sex Chromosome Disorders of Sex Development/pathology
Sex Chromosomes/chemistry
Sex Chromosomes/pathology
Trisomy/genetics
Trisomy/pathology
XYY Karyotype/blood
XYY Karyotype/genetics
XYY Karyotype/pathology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:9007-49-2 (DNA)
[Em] Entry month:1708
[Cu] Class update date: 171004
[Lr] Last revision date:171004
[Js] Journal subset:IM
[Da] Date of entry for processing:170331
[St] Status:MEDLINE
[do] DOI:10.1177/0300060517695008

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[PMID]: 28165153
[Au] Autor:Peng R; Xie HN; Zheng J; Zhou Y; Lin MF
[Ad] Address:Department of Ultrasonic Medicine, Fetal Medical Centre, Guangzhou, China.
[Ti] Title:Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome.
[So] Source:Prenat Diagn;37(4):329-335, 2017 Apr.
[Is] ISSN:1097-0223
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: The aim of the study was to assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases, and genetic data were not available for 26 cases. Tetralogy of the Fallot was the most frequently associated anomaly. Among the 60 fetuses with known karyotype, one was 46, X, Yqh+, der(13)t(8;13)(q22.3;q33.2), one was 47, XYY and the remaining were normal. Our study showed that CMA could detect uncertain significant copy number variants in 5.2% of fetal RAA and pathogenic copy number variants in 5.2%, all of which were microdeletion in chromosome 22q11.21. The genetic anomalies, gestational age at delivery and postnatal death were not significantly different between RAA-no intracardiac anomalies and RAA-intracardiac anomalies group. One infant with aberrant left subclavian artery needed to perform a surgery for respiratory symptom. CONCLUSIONS: A right aortic arch is associated with 22q11.2 deletion syndrome in approximately 5% of cases, and, therefore, prenatal testing, preferably using CMA, should be offered. © 2017 John Wiley & Sons, Ltd.
[Mh] MeSH terms primary: Aorta, Thoracic/abnormalities
Chromosome Disorders/epidemiology
Fetus/abnormalities
Heart Defects, Congenital/epidemiology
Vascular Malformations/epidemiology
[Mh] MeSH terms secundary: Abnormalities, Multiple/epidemiology
Abnormalities, Multiple/genetics
Aneurysm/complications
Aneurysm/diagnosis
Aneurysm/epidemiology
Cardiovascular Abnormalities/complications
Cardiovascular Abnormalities/diagnosis
Cardiovascular Abnormalities/epidemiology
Chromosome Disorders/complications
Chromosome Disorders/diagnosis
Female
Heart Defects, Congenital/complications
Heart Defects, Congenital/diagnosis
Humans
Karyotyping/methods
Microarray Analysis
Pregnancy
Pregnancy Outcome/epidemiology
Pregnancy Outcome/genetics
Retrospective Studies
Subclavian Artery/abnormalities
Ultrasonography, Prenatal
Vascular Malformations/complications
Vascular Malformations/diagnosis
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170929
[Lr] Last revision date:170929
[Js] Journal subset:IM
[Da] Date of entry for processing:170207
[St] Status:MEDLINE
[do] DOI:10.1002/pd.5015

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[PMID]: 27799275
[Au] Autor:Fish AM; Cachia A; Fischer C; Mankiw C; Reardon PK; Clasen LS; Blumenthal JD; Greenstein D; Giedd JN; Mangin JF; Raznahan A
[Ad] Address:Developmental Neurogenomics Unit, Child Psychiatry Branch, National Institute of Mental Health, Bethesda, MD 20892, USA.
[Ti] Title:Influences of Brain Size, Sex, and Sex Chromosome Complement on the Architecture of Human Cortical Folding.
[So] Source:Cereb Cortex;27(12):5557-5567, 2017 Dec 01.
[Is] ISSN:1460-2199
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Gyrification is a fundamental property of the human cortex that is increasingly studied by basic and clinical neuroscience. However, it remains unclear if and how the global architecture of cortical folding varies with 3 interwoven sources of anatomical variation: brain size, sex, and sex chromosome dosage (SCD). Here, for 375 individuals spanning 7 karyotype groups (XX, XY, XXX, XYY, XXY, XXYY, XXXXY), we use structural neuroimaging to measure a global sulcation index (SI, total sulcal/cortical hull area) and both determinants of sulcal area: total sulcal length and mean sulcal depth. We detail large and patterned effects of sex and SCD across all folding metrics, but show that these effects are in fact largely consistent with the normative scaling of cortical folding in health: larger human brains have disproportionately high SI due to a relative expansion of sulcal area versus hull area, which arises because disproportionate sulcal lengthening overcomes a lack of proportionate sulcal deepening. Accounting for these normative allometries reveals 1) brain size-independent sulcal lengthening in males versus females, and 2) insensitivity of overall folding architecture to SCD. Our methodology and findings provide a novel context for future studies of human cortical folding in health and disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1611
[Cu] Class update date: 171117
[Lr] Last revision date:171117
[St] Status:In-Process
[do] DOI:10.1093/cercor/bhw323


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