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https://www.readbyqxmd.com/read/30510841/isolated-fetal-cardiac-abnormalities-are-they-really-isolated
#1
Armin S Razavi, Stephen T Chasen
Objective  To determine the rate of unsuspected noncardiac abnormalities in newborns suspected to have isolated cardiac abnormalities in the second trimester. Study Design  A review of the ultrasound database from the Weill Cornell Medical Center identified fetuses with a suspected cardiac abnormality from January 2006 to November 2016. Cases with prenatally suspected noncardiac structural abnormalities, abnormal fetal or neonatal karyotype or microarray, and those who delivered at an outside institution or underwent abortion were excluded...
October 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/30506203/next-generation-sequencing-of-prenatal-structural-chromosomal-rearrangements-using-large-insert-libraries
#2
Benjamin B Currall, Caroline W Antolik, Ryan L Collins, Michael E Talkowski
Precise tests for genomic structural variation (SV) are essential for accurate diagnosis of prenatal genome abnormalities. The two most ubiquitous traditional methods for prenatal SV assessment, karyotyping and chromosomal microarrays, do not provide sufficient resolution for some clinically actionable SVs. Standard whole-genome sequencing (WGS) overcomes shortcomings of traditional techniques by providing base-pair resolution of the entire accessible genome. However, while sequencing costs have continued to decline in recent years, conventional WGS costs remain high for most routine clinical applications...
2019: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30506199/prenatal-diagnosis-using-chromosomal-snp-microarrays
#3
Mythily Ganapathi, Odelia Nahum, Brynn Levy
Chromosomal microarray is a high resolution genomic technology to diagnose genetic conditions associated with losses or gains of the human genome. This technology is currently routinely used in numerous clinical settings, including postnatal diagnosis of disorders with genetic etiologies such as intellectual disability, developmental delay, neurocognitive phenotypes, congenital anomalies, and prenatal diagnosis wherein the referral could be ultrasound anomalies, advanced maternal age, and normal course of pregnancy...
2019: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30506198/chromosomal-microarray-analysis-using-array-comparative-genomic-hybridization-on-dna-from-amniotic-fluid-and-chorionic-villus-sampling
#4
Ankita Patel
Chromosomal Microarray analysis offers an objective high resolution view of copy number changes in the genome that contribute to genomic disorders in various clinical setting such as postnatal, prenatal, and oncology. Here, we describe a fast and reliable method of using chromosomal microarray analysis in detection of genomic imbalances that may be associated with congenital malformations in a prenatal setting. Results can be obtained in 4-5 days using direct amniotic fluid (AF) or chorionic villus samples (CVS)...
2019: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30501925/a-reappraisal-of-circulating-fetal-cell-noninvasive-prenatal-testing
#5
REVIEW
Meysam Rezaei, Marnie Winter, Deirdre Zander-Fox, Clare Whitehead, Jan Liebelt, Majid Ebrahimi Warkiani, Tristan Hardy, Benjamin Thierry
New tools for higher-resolution fetal genome analysis including microarray and next-generation sequencing have revolutionized prenatal screening. This article provides commentary on this rapidly advancing field and a future perspective emphasizing circulating fetal cell (CFC) utility. Despite the tremendous technological challenges associated with their reliable and cost-effective isolation from maternal blood, CFCs have a strong potential to bridge the gap between the diagnostic sensitivity of invasive procedures and the desirable noninvasive nature of cell-free fetal DNA (cffDNA)...
November 27, 2018: Trends in Biotechnology
https://www.readbyqxmd.com/read/30431620/prenatal-diagnosis-and-pregnancy-outcome-analysis-of-thickened-nuchal-fold-in-the-second-trimester
#6
Lushan Li, Fang Fu, Ru Li, Zequn Liu, Can Liao
To summarize the results of prenatal diagnoses and pregnancy outcomes of fetuses with thickened nuchal fold (TNF) in the second trimester.From 2009 to 2016, we studied 72 pregnant women with fetal nuchal fold (NF) measurements over 5 mm at 14 to 19 + 6 weeks or 6 mm at 20 to 28 weeks of gestation who received prenatal diagnosis. Karyotypes were first used to detect common chromosomal diseases, and then chromosome microarray analysis (CMA) was performed if karyotypes were normal. Prognoses were followed up by documentation in the hospital or over the telephone...
November 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30372694/first-report-of-low-rate-mosaicism-for-20q11-21q12-deletion-and-delineation-of-the-associated-disorder
#7
Sara Loddo, Viola Alesi, Silvia Genovese, Valeria Orlando, Chiara Calacci, Fabrizia Restaldi, Daniele Pompili, Maria T Liambo, Maria C Digilio, Bruno Dallapiccola, Maria L Dentici, Antonio Novelli
Interstitial deletions of the long arm of chromosome 20 are very rare, with only 12 reported patients harboring the 20q11.2 microdeletion and presenting a disorder characterized by psychomotor and growth delay, dysmorphisms, and brachy-/clinodactyly. We describe the first case of mosaic 20q11.2 deletion in a 5-year-old girl affected by mild psychomotor delay, feeding difficulties, growth retardation, craniofacial dysmorphisms, and finger anomalies. SNP array analysis disclosed 20% of cells with a 20q11.21q12 deletion, encompassing the 20q11...
October 30, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30369481/-application-of-chromosomal-microarray-analysis-for-a-cohort-of-2600-chinese-patients-with-miscarriage
#8
Ji Ping Peng, Hai Ming Yuan
Chromosomal microarray analysis (CMA) is a technique for screening numerical and structural abnormalities of chromosomes at the whole genome level. It is a routine tool for pediatric and prenatal genetic diagnoses. It has also been applied to investigate the genetic etiologies of miscarriages. In our study, we used the CMA technology to analyze the chromosomal variations of fetuses from miscarriages at the whole genome level, and to evaluate its clinical applications in studies of miscarriages. The CMA analyses were performed on 2600 miscarriage specimens, of which 2505 specimens (96...
September 20, 2018: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/30369122/-analysis-of-copy-number-variation-by-cma-in-fetus-with-increased-nuchal-translucency
#9
L Du, H N Xie, J Zheng, M He
Objective: To investigated the clinical value of chromosomal microarray analysis (CMA) in fetuses with increased nuchal translucency (NT) . Methods: Totally 101 cases out of 19 261 singleton fetuses who underwent the first trimester (11-13+6 weeks) ultrasound examination from January 2015 to June 2017 at First Affiliated Hospital of Sun Yat-sen University were diagnosed with NT ≥2.5 mm and underwent invasive prenatal test for fetal karyotype and CMA. According to the combination of other ultrasound abnormalities, the cases were divided into isolated group (67...
October 25, 2018: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/30359267/identifying-the-genetic-causes-for-prenatally-diagnosed-structural-congenital-anomalies-scas-by-whole-exome-sequencing-wes
#10
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung
BACKGROUND: Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in fetuses with structural congenital anomalies (SCAs) detected on prenatal ultrasound. METHOD: Thirty-three families with fetal SCAs on prenatal ultrasonography and normal chromosomal microarray results were recruited. Genomic DNA was extracted from various fetal samples including amniotic fluid, chorionic villi, and placental tissue...
October 25, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/30357877/reliable-detection-of-subchromosomal-deletions-and-duplications-using-cell-based-noninvasive-prenatal-testing
#11
Liesbeth Vossaert, Qun Wang, Roseen Salman, Xinming Zhuo, Chunjing Qu, David Henke, Ron Seubert, Jennifer Chow, Lance U'ren, Brennan Enright, Jackie Stilwell, Eric Kaldjian, Yaping Yang, Chad Shaw, Brynn Levy, Ronald Wapner, Amy Breman, Ignatia Van den Veyver, Arthur Beaudet
OBJECTIVE: To gather additional data on the ability to detect subchromosomal abnormalities of various sizes in single fetal cells isolated from maternal blood, using low coverage shotgun next-generation sequencing for cell-based noninvasive prenatal testing (NIPT). METHOD: Fetal trophoblasts were recovered from ~ 30 mL of maternal blood using maternal white blood cell depletion, density-based cell separation, immunofluorescence staining, and high-resolution scanning...
October 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30349861/maternal-immune-activation-alters-brain-microrna-expression-in-mouse-offspring
#12
Jun-Sang Sunwoo, Daejong Jeon, Soon-Tae Lee, Jangsup Moon, Jung-Suk Yu, Dong-Kyu Park, Ji-Yeon Bae, Doo Young Lee, Sangwoo Kim, Keun-Hwa Jung, Kyung-Il Park, Ki-Young Jung, Manho Kim, Sang Kun Lee, Kon Chu
Objective: Maternal immune activation (MIA) is associated with an increased risk of autism spectrum disorder (ASD) in offspring. Herein, we investigate the altered expression of microRNAs (miRNA), and that of their target genes, in the brains of MIA mouse offspring. Methods: To generate MIA model mice, pregnant mice were injected with polyriboinosinic:polyribocytidylic acid on embryonic day 12.5. We performed miRNA microarray and mRNA sequencing in order to determine the differential expression of miRNA and mRNA between MIA mice and controls, at 3 weeks of age...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30334587/the-belgian-microarray-prenatal-bemapre-database-a-systematic-nationwide-repository-of-fetal-genomic-aberrations
#13
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker, Julie Désir, Anne Destrée, Koenraad Devriendt, Annelies Dheedene, Annelies Fieuw, Erik Fransen, Jean-Stéphane Gatot, Philip Holmgren, Mauricette Jamar, Sandra Janssens, Kathelijn Keymolen, Damien Lederer, Björn Menten, Marije Meuwissen, Benoit Parmentier, Bruno Pichon, Sonia Rombout, Yves Sznajer, Ann Van Den Bogaert, Kris Van Den Bogaert, Olivier Vanakker, Joris Vermeesch, Katrien Janssens
OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs...
October 18, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30328630/interest-of-chromosomal-microarray-analysis-in-the-prenatal-diagnosis-of-fetal-intrauterine-growth-restriction
#14
S Brun, P Pennamen, A Mattuizzi, F Coatleven, M L Vuillaume, D Lacombe, B Arveiler, J Toutain, C Rooryck
OBJECTIVE: The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using Chromosomal Microarray Analysis (CMA) for fetuses presenting with isolated or associated Intrauterine Growth Restriction (IUGR). METHOD: We retrospectively included all fetuses with IUGR referred for prenatal testing and studied by rapid fluorescence in situ hybridization (FISH), karyotype and CMA. RESULTS: Among the 162 IUGR fetuses (78 associated and 84 isolated IUGR) included, 15 had an abnormal FISH result: 10 associated and five isolated fetal IUGRs...
October 17, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30327448/biallelic-mutations-in-exoc3l2-cause-a-novel-syndrome-that-affects-the-brain-kidney-and-blood
#15
Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen W Scherer, Shay Tzur, Yigal Dror
BACKGROUND: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown. OBJECTIVE: To identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families...
October 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30326779/prenatal-diagnosis-of-bacs-on-beads-assay-in-3647-cases-of-amniotic-fluid-cells
#16
Chunyan Li, Biliang Chen, Jiao Zheng, Lu Cheng, Tingting Song, Fenfen Guo, Hui Xu, Feng Yan, Ying Xu, Yu Li, Jianfang Zhang
OBJECTIVE: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes. METHODS: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation...
October 16, 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/30317140/clinical-utility-of-exome-sequencing-in-the-prenatal-diagnosis-of-congenital-anomalies-a-review
#17
REVIEW
Fionnuala Mone, Elizabeth Quinlan-Jones, Mark D Kilby
Advances in prenatal genomics have enabled the assessment of not only the sub-microscopic structure of chromosomes using chromosomal microarray analysis, but also the detection of "pathogenic variants" to the resolution of a single base pair with the use of next generation sequencing. Research is emerging on the additional prenatal diagnostic yield that exome sequencing offers when structural fetal anomalies are detected on ultrasound examination, in particular the identification of monogenic abnormalities defining prognosis and recurrence of anomalies...
October 6, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/30316929/transcript-profiling-in-the-testes-and-prostates-of-postnatal-day-30-sprague-dawley-rats-exposed-prenatally-and-lactationally-to-2-hydroxy-4-methoxybenzophenone
#18
Noriko Nakamura, Vikrant Vijay, Varsha G Desai, Deborah K Hansen, Tao Han, Ching-Wei Chang, Yu-Chuan Chen, Wafa Harrouk, Barry McIntyre, Paul M Foster, James C Fuscoe, Amy L Inselman
2-hydroxy-4-methoxybenzophenone (HMB) is an ultraviolet light-absorbing compound that is used in sunscreens, cosmetics and plastics. HMB has been reported to have weak estrogenic activity by in vivo and in vitro studies, making it a chemical with potential reproductive concern. To explore if prenatal and lactational HMB exposure alters gene expression profiles of the developing reproductive organs, we performed microarray analysis using the prostate and testis of postnatal day (PND) 30 male Sprague-Dawley rats offspring exposed to 0, 3000, or 30,000 ppm of HMB from gestational day 6 through PND 21...
October 11, 2018: Reproductive Toxicology
https://www.readbyqxmd.com/read/30311908/central-dicer-mir-103-107-controls-developmental-switch-of-pomc-progenitors-into-npy-neurons-and-impacts-glucose-homeostasis
#19
Sophie Croizier, Soyoung Park, Julien Maillard, Sebastien G Bouret
Proopiomelanocortin (POMC) neurons are major negative regulators of energy balance. A distinct developmental property of POMC neurons is that they can adopt an orexigenic neuropeptide Y (NPY) phenotype. However, the mechanisms underlying the differentiation of Pomc progenitors remain unknown. Here, we show that the loss of the microRNA (miRNA)-processing enzyme Dicer in POMC neurons causes metabolic defects, an age-dependent decline in the number of Pomc mRNA-expressing cells, and an increased proportion of Pomc progenitors acquiring a NPY phenotype...
October 12, 2018: ELife
https://www.readbyqxmd.com/read/30293254/-screening-for-hotspot-mutations-associated-with-genetic-hearing-impairment-in-pregnant-women-and-subsequent-prenatal-diagnosis-in-high-risk-pregnancies
#20
K Yang, H Qi, S S Huang, X H Wen, J J Zhu, L R Cai, W Zeng, G D Tang, Y Luo, D Y Kang
Objective: To screen for hotspot gene mutations associated with genetic deafness in Chinese pregnant women, and to perform risk assessment and prenatal diagnosis in high-risk families. Methods: Between November 2012 and October 2017, 26 117 pregnant women were screened by molecular hybridization microarray for 9 hot-spot mutations in 4 hereditary deafness related genes ( GJB 2 c . 35 del G, c . 176_191 del 16 bp, c . 235 del G, c . 299_300 del AT, GJB 3 c . 538 C > T, SLC 26 A 4 c . 2168 A > G, IVS 7-2 A > G, mitochondrial DNA 12 S rRNA m ...
September 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
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