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Prenatal microarrays

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https://www.readbyqxmd.com/read/28215395/microarrays-in-prenatal-diagnosis
#1
REVIEW
Beatrice Oneda, Anita Rauch
In prenatal diagnosis, chromosomal microarray (CMA) has not yet fully replaced conventional karyotyping but has rapidly become the recommended test in pregnancies with ultrasound abnormalities. In this review, we provide an overview of the published data concerning this technology and the controversies concerning its use in the prenatal setting. There is abundant evidence indicating the added detection of pathogenic abnormalities with CMA in comparison to the traditional karyotyping, especially in fetuses with multiple or isolated ultrasound abnormalities such as congenital heart disease, increased nuchal translucency, or oral cleft...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#2
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28186593/-prenatal-diagnosis-of-a-case-with-46-xx-del-4-dup-21
#3
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jing Zhang, Xiaohong Zhang
OBJECTIVE: To investigate the genetic cause and prognosis of a fetus with a rare karyotype. METHODS: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus. RESULTS: The fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28165153/fetal-right-aortic-arch-associated-anomalies-genetic-anomalies-with-chromosomal-microarray-analysis-and-postnatal-outcome
#4
Ruan Peng, Hong-Ning Xie, Ju Zheng, Yi Zhou, Mei-Fang Lin
OBJECTIVES: 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...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28132396/expert-knowledge-influences-decision-making-for-couples-receiving-positive-prenatal-chromosomal-microarray-testing-results
#5
M A Rubel, A Werner-Lin, F K Barg, B A Bernhardt
To assess how participants receiving abnormal prenatal genetic testing results seek information and understand the implications of results, 27 US female patients and 12 of their male partners receiving positive prenatal microarray testing results completed semi-structured phone interviews. These interviews documented participant experiences with chromosomal microarray testing, understanding of and emotional response to receiving results, factors affecting decision-making about testing and pregnancy termination, and psychosocial needs throughout the testing process...
January 28, 2017: Culture, Medicine and Psychiatry
https://www.readbyqxmd.com/read/28108156/smfm-consult-series-42-the-role-of-ultrasound-in-women-who-undergo-cell-free-dna-screening
#6
Mary E Norton, Joseph R Biggio, Jeffrey A Kuller, Sean C Blackwell
The introduction of cell-free DNA (cfDNA) screening for aneuploidy into obstetric practice in 2011 revolutionized the strategies utilized for prenatal testing. The purpose of this document is to review the current data on the role of ultrasound in women who have undergone or are considering cfDNA screening. The following are SMFM recommendations: 1) in women who have already received a negative cfDNA screen, ultrasound at 11-14 weeks of gestation solely for the purpose of NT measurement (CPT code 76813) is not recommended (GRADE 1B); 2) we recommend that diagnostic testing should not be recommended to patients solely for the indication of an isolated soft marker in the setting of a negative cfDNA screen (GRADE 2B); 3) in women with an isolated soft marker without other clinical implications (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative cfDNA screen, we recommend describing the finding as "not clinically significant" or as a "normal variant" (GRADE 2B); 4) in women with an isolated soft marker that has no other clinical implication (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative first or second trimester screening result, we recommend describing the finding as "not clinically significant" or as a "normal variant" (GRADE 2B); 5) we recommend that all women in whom a structural abnormality is identified by ultrasound should be offered diagnostic testing with chromosomal microarray (GRADE 1A); 6) we recommend against routine screening for microdeletions with cfDNA (GRADE 1B)...
January 17, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28102595/-they-can-t-find-anything-wrong-with-him-yet-mothers-experiences-of-parenting-an-infant-with-a-prenatally-diagnosed-copy-number-variant-cnv
#7
Allison Werner-Lin, Sarah Walser, Frances K Barg, Barbara A Bernhardt
Chromosome microarray (CMA) testing is used widely in prenatal settings. Some copy number variants (CNVs) detected using CMA are associated with variable or uncertain phenotype and/or possible neurocognitive involvement. Little is known about parenting an infant following such findings. Researchers conducted interviews with 23 mothers of infants diagnosed prenatally with a potentially pathogenic CNV to elicit perspectives on the child's development and disclosure of results to others. Interviews were audiotaped and analyzed for common themes...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28040141/prenatal-diagnosis-of-smith-magenis-syndrome-in-two-fetuses-with-increased-nuchal-translucency-mild-lateral-ventriculomegaly-and-congenital-heart-defects
#8
Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao
OBJECTIVE: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS. We report on the prenatal diagnosis of SMS in two fetuses with increased nuchal translucency (NT), mild lateral ventriculomegaly, and congenital heart defects by whole-genome and high-resolution chromosome microarray analysis (CMA)...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28019128/screening-of-potential-biomarkers-for-prenatal-diagnosis-of-trisomy-21
#9
Ke Ma, Feng Li, Yang Yu, Haibo Li
We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database...
December 25, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27984613/-detection-of-a-fetus-with-paternally-derived-2q37-3-microdeletion-and-20p13p12-2-microduplication-using-whole-genome-microarray-technology
#10
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jianliu Wang, Xiaohong Zhang
OBJECTIVE: To perform prenatal diagnosis for a fetus with multiple malformations. METHODS: The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis. RESULTS: Fetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27984599/-application-of-chromosome-microarray-analysis-for-fetuses-with-multicystic-dysplastic-kidney
#11
Feifei Chen, Tingying Lei, Fang Fu, Ru Li, Yongling Zhang, Xiangyi Jing, Xin Yang, Jin Han, Li Zhen, Min Pan, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). METHODS: Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. RESULTS: Conventional cytogenetic technique has revealed three fetuses (4...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27983596/estrogenic-endocrine-disrupting-chemicals-influencing-nrf1-regulated-gene-networks-in-the-development-of-complex-human-brain-diseases
#12
REVIEW
Mark Preciados, Changwon Yoo, Deodutta Roy
During the development of an individual from a single cell to prenatal stages to adolescence to adulthood and through the complete life span, humans are exposed to countless environmental and stochastic factors, including estrogenic endocrine disrupting chemicals. Brain cells and neural circuits are likely to be influenced by estrogenic endocrine disruptors (EEDs) because they strongly dependent on estrogens. In this review, we discuss both environmental, epidemiological, and experimental evidence on brain health with exposure to oral contraceptives, hormonal therapy, and EEDs such as bisphenol-A (BPA), polychlorinated biphenyls (PCBs), phthalates, and metalloestrogens, such as, arsenic, cadmium, and manganese...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27966372/increased-first-trimester-nuchal-translucency-associated-with-a-dicentric-chromosome-and-9q34-3-microdeletion-syndrome
#13
Lv-Yin Huang, Yu Yang, Ping He, Dong-Zhi Li
We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype...
December 14, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27914741/maternal-bcg-scar-is-associated-with-increased-infant-proinflammatory-immune-responses
#14
Patrice Akusa Mawa, Emily L Webb, Abdelali Filali-Mouhim, Gyaviira Nkurunungi, Rafick-Pierre Sekaly, Swaib Abubaker Lule, Sarah Prentice, Stephen Nash, Hazel M Dockrell, Alison M Elliott, Stephen Cose
INTRODUCTION: Prenatal exposures such as infections and immunisation may influence infant responses. We had an opportunity to undertake an analysis of innate responses in infants within the context of a study investigating the effects of maternal mycobacterial exposures and infection on BCG vaccine-induced responses in Ugandan infants. MATERIAL AND METHODS: Maternal and cord blood samples from 29 mother-infant pairs were stimulated with innate stimuli for 24h and cytokines and chemokines in supernatants were measured using the Luminex® assay...
January 5, 2017: Vaccine
https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#15
Anne Goodeve
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27883173/clinical-application-of-snp-array-analysis-in-first-trimester-pregnancy-loss-a-prospective-study
#16
Y Wang, Q Cheng, L Meng, C Luo, H Hu, J Zhang, J Cheng, T Xu, T Jiang, D Liang, P Hu, Z Xu
Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of CMA for genetic diagnosis of first-trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using single-nucleotide polymorphism (SNP) array. Among the specimens, 2.9% (16/551) had significant maternal cell contamination and were excluded from the study...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27875474/committee-opinion-no-682-microarrays-and-next-generation-sequencing-technology-the-use-of-advanced-genetic-diagnostic-tools-in-obstetrics-and-gynecology
#17
(no author information available yet)
Genetic technology has advanced dramatically in the past few decades, and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis. Two of the newer genetic technologies in the prenatal setting are chromosomal microarray and whole-exome sequencing. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It can identify chromosomal aneuploidy and other large changes in the structure of chromosomes as well as submicroscopic abnormalities that are too small to be detected by traditional modalities...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27875471/committee-opinion-no-682-summary-microarrays-and-next-generation-sequencing-technology-the-use-of-advanced-genetic-diagnostic-tools-in-obstetrics-and-gynecology
#18
(no author information available yet)
Genetic technology has advanced dramatically in the past few decades, and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis. Two of the newer genetic technologies in the prenatal setting are chromosomal microarray and whole-exome sequencing. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It can identify chromosomal aneuploidy and other large changes in the structure of chromosomes as well as submicroscopic abnormalities that are too small to be detected by traditional modalities...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27859473/prenatal-detection-of-10q22q23-duplications-dilemmas-in-phenotype-prediction
#19
Grace Wing Shan Kong, Ye Cao, Jin Huang, Kwun Yue Cheng, Amber Nolen Pursley, Jill Anne Rosenfeld, Janice G Edwards, Yiu Man Chan, Sau Wai Cheung, Tak Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications. METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#20
REVIEW
Ignatia B Van den Veyver
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively...
2016: F1000Research
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