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Prenatal array

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https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#1
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#2
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29128521/prenatal-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-disease-a-prospective-cohort-study
#3
Yan Wang, Li Cao, Dong Liang, Lulu Meng, Yun Wu, Fengchang Qiao, Xiuqing Ji, Chunyu Luo, Jingjing Zhang, Tianhui Xu, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Ping Hu, Zhengfeng Xu
BACKGROUD: Currently, chromosomal microarray analysis is considered as the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of CMA for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. OBJECTIVE: Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. STUDY DESIGN: In this prospective study, 602 prenatal cases of congenital heart disease were investigated using SNP array over a 5-year period...
November 8, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29115496/prenatal-diagnosis-and-genetic-counseling%C3%A2-for-waardenburg-syndrome-type%C3%A2-i-and-ii-in-chinese-families
#4
Li Wang, Litao Qin, Tao Li, Hongjian Liu, Lingcao Ma, Wan Li, Dong Wu, Hongdan Wang, Qiannan Guo, Liangjie Guo, Shixiu Liao
Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing...
October 25, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29046733/mosaic-genome-wide-maternal-isodiploidy-an-extreme-form-of-imprinting-disorder-presenting-as-prenatal-diagnostic-challenge
#5
Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F Barth, Reiner Siebert
BACKGROUND: Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. RESULTS: We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29037560/application-of-non-invasive-prenatal-testing-in-late-gestation-in-a-pregnancy-associated-with-intrauterine-growth-restriction-and-trisomy-22-confined-placental-mosaicism
#6
Chih-Ping Chen, Chris Tsai, Ming-Huei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM). CASE REPORT: A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037557/prenatal-diagnosis-of-isochromosome-20q-in-a-fetus-with-vertebral-anomaly-and-rocker-bottom-feet
#7
Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
OBJECTIVE: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS AND METHODS: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29024969/preconception-urinary-phthalate-concentrations-and-sperm-dna-methylation-profiles-among-men-undergoing-ivf-treatment-a-cross-sectional-study
#8
Haotian Wu, Molly S Estill, Alexander Shershebnev, Alexander Suvorov, Stephen A Krawetz, Brian W Whitcomb, Holly Dinnie, Tayyab Rahil, Cynthia K Sites, J Richard Pilsner
STUDY QUESTION: Are preconception phthalate and phthalate replacements associated with sperm differentially methylated regions (DMRs) among men undergoing IVF? SUMMARY ANSWER: Ten phthalate metabolites were associated with 131 sperm DMRs that were enriched in genes related to growth and development, cell movement and cytoskeleton structure. WHAT IS KNOWN ALREADY: Several phthalate compounds and their metabolites are known endocrine disrupting compounds and are pervasive environmental contaminants...
November 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28988271/bridging-the-gap-from-prenatal-karyotyping-to-whole-genome-array-comparative-genomic-hybridization-in-hong-kong-survey-on-knowledge-and-acceptance-of-health-care-providers-and-pregnant-women
#9
Hiu Yee Heidi Cheng, Anita Sik-Yau Kan, Pui Wah Hui, Chin Peng Lee, Mary Hoi Yin Tang
PURPOSE: The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors...
December 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28982294/the-effect-of-prenatal-alcohol-exposure-on-fetal-growth-and-cardiovascular-parameters-in-a-baboon-model-of-pregnancy
#10
Ana M Tobiasz, Jose R Duncan, Zoran Bursac, Ryan D Sullivan, Danielle L Tate, Alex M Dopico, Anna N Bukiya, Giancarlo Mari
Prenatal alcohol exposure often results in an array of fetal developmental abnormalities termed fetal alcohol spectrum disorders (FASDs). Despite the high prevalence of FASDs, the pathophysiology of fetal damage by alcohol remains poorly understood. One of the major obstacles in studying fetal development in response to alcohol exposure is the inability to standardize the amount, pattern of alcohol consumption, and peak blood alcohol levels in pregnant mothers. In the present study, we used Doppler ultrasonography to assess fetal growth and cardiovascular parameters in response to alcohol exposure in pregnant baboons...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28981941/-prenatal-diagnosis-and-genetic-analysis-of-a-fetus-with-6q27-microdeletion
#11
Dong Wu, Weili Shi, Hongdan Wang, Qiaofang Hou, Hui Zhang, Tao Li, Chaoyang Zhang, Yanli Yang, Shixiu Liao
OBJECTIVE: To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism. METHODS: The karotypes of the fetus and its parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). RESULTS: No karyotypic abnormality was detected at cytogenetic level for the fetus and its parents. aCGH has identified a de novo 2.04 Mb deletion at 6q27 in the fetus...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981940/-prenatal-genetic-analysis-of-a-fetus-with-wolf-hirschhorn-syndrome-and-edward-syndrome
#12
Xueping Shen, Pingya He, Rong Fang, Juan Yao, Wenwen Li
OBJECTIVE: To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis. METHODS: The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH). RESULTS: G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981929/-genetic-analysis-of-two-cases-with-dandy-walker-deformed-fetus
#13
Juan Yao, Rong Fang, Xueping Shen, Guosong Shen, Su Zhang
OBJECTIVE: To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array). METHODS: The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis. RESULTS: The parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28954035/preimplantation-genetic-diagnosis-associated-to-duchenne-muscular-dystrophy
#14
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28950778/first-report-of-a-novel-deletion-due-to-%C3%AE%C2%B5%C3%AE-%C3%AE-%C3%AE-thalassemia-in-a-chinese-family
#15
Annie S Y Hui, Patrick K C Au, Yuen-Ha Ting, Anita S Y Kan, Yvonne K Y Cheng, Alex W K Leung, Kelvin Y K Chan, Chi-Kong Li, Mary H Y Tang, Tak-Yeung Leung
A fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) excluded common α-thalassemia (α-thal) deletions and mutations and PCR sequencing of the α1- and α2-globin genes were negative. The fetus had a normal karyotype. Array comparative genomic hybridization (aCGH) showed a single copy loss of 189.87 kb in chromosome 11p15.4, involving the whole β-globin gene cluster, inherited from the father...
May 2017: Hemoglobin
https://www.readbyqxmd.com/read/28948695/prenatal-diagnosis-of-femoral-facial-syndrome-three-case-reports-and-literature-review
#16
Marion Luisin, Julien Chevreau, Céline Klein, Philippe Naepels, Bénédicte Demeer, Michèle Mathieu-Dramard, Guillaume Jedraszak, Catherine Gondry-Jouet, Jean Gondry, Anne Dieux-Coeslier, Gilles Morin
Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations...
September 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28947381/outcome-of-isolated-agenesis-of-the-corpus-callosum-a-population-based-prospective-study
#17
Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie-Pierre Cordier, Pascal Gaucherand, Jérôme Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot, François Rivier, Audrey Lacalm, Amélie Clément, Dorothée Ville, Laurent Guibaud
OBJECTIVES: Neurodevelopmental outcome of apparently isolated agenesis of the corpus callosum (ACC) remains a major concern with uncertain prognosis. Despite "normal" IQ reported in a majority of patients, the rates of learning disabilities and severe outcome (ranging from 0% to 20%) are not clearly established. METHODS: A large population-based series was investigated based on a longitudinal follow-up until school age, using Wechsler Intelligence scales at 3, 5, and 7 years...
September 5, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28946151/the-incidence-of-chromosomal-aberrations-in-prenatally-diagnosed-isolated-agenesis-of-the-corpus-callosum
#18
Anna Marlene Rüland, Karl-Philipp Gloning, Matthias Albig, Karl-Oliver Kagan, Rüdiger Hammer, Michael Schälike, Christoph Berg, Ulrich Gembruch, Annegret Geipel
Purpose To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. Materials & Methods This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated. Results Complete ACC was diagnosed in 343 cases...
September 25, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28922976/transient-impairment-of-islet-architectural-development-in-pancreas-specific-bmpr1a-deleted-prenatal-mice-involves-reduced-expression-of-e-cadherin
#19
Fang-Xu Jiang, Leonard C Harrison
Bone morphogenetic protein (BMP) signaling plays critical roles on the development of a large array of embryonic organs and promotes the in vitro formation of pancreatic cystoid colonies containing insulin-producing cells. However, this signaling and its underlying mechanism on in vivo development of prenatal pancreas have not been clearly understood. To address these questions, we analyzed, with a variety of techniques, the prenatal mouse pancreas after Pdx1 (the pancreas and duodenum homeobox factor 1 gene)-driving deletion of the BMP receptor type 1a gene (Bmpr1a)...
October 30, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#20
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
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