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Prenatal genetic diagnosis

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https://www.readbyqxmd.com/read/28808920/prospective-turkish-cohort-study-to-investigate-the-frequency-of-niemann-pick-disease-type-c-mutations-in-consanguineous-families-with-at-least-one-homozygous-family-member
#1
Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations...
August 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#2
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805618/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-21q11-2-q21-1-and-a-literature-review
#3
Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1. CASE REPORT: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#4
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805606/detection-of-sea-type-%C3%AE-thalassemia-in-embryo-biopsies-by-digital-pcr
#5
Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang
OBJECTIVE: Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28794124/phenotypic-evaluations-of-hbb-c-93-23t-c-a-nucleotide-substitution-in-the-ivs-i-nt-108-of-%C3%AE-globin-gene
#6
Margherita Vinciguerra, Filippo Cassarà, Monica Cannata, Disma Renda, Giuseppina Calvaruso, Filippo Leto, Cristina Passarello, Aurelio Maggio, Antonino Giambona
BACKGROUND: Thalassaemia and variant haemoglobin are the most common severe monogenic disorders worldwide. AIMS: To develop prenatal diagnosis programmes for the prevention of the most important haemoglobin disorders and identify healthy carriers of thalassaemia. METHODS: Sequencing analysis was used to obtain complete data on gene structure and to correlate specific phenotypic expression with mutations, especially for new or very rare mutations in globin genes...
August 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28790549/genetic-counseling-and-prenatal-diagnosis-of-triploidy-during-the-second-trimester-of-pregnancy
#7
Milenko Kolarski, Begzudin Ahmetovic, Maja Beres, Radomir Topic, Vedran Nikic, Ivana Kavecan, Semin Sabic
INTRODUCTION: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. CASE REPORT: We present a case of second-trimester triploidy diagnosed prenataly at our center...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28783850/fetal-skeletal-lethal-dysplasia-case-report
#8
Alexandre Mello Savoldi, Maria Auxiliadora Monteiro Villar, Heloisa Novaes Machado, Juan C Llerena Júnior
The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant...
August 7, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28780519/analysis-of-genetic-and-clinical-characteristics-of-a-chinese-kallmann-syndrome-cohort-with-anos1-mutations
#9
Min Nie, Hongli Xu, Rongrong Chen, Jiangfeng Mao, Xi Wang, Shuyu Xiong, Junjie Zheng, Bingqing Yu, Mingxuan Cui, Wanlu Ma, Qibing Huang, Hongbing Zhang, Xueyan Wu
OBJECTIVE: To analyze ANOS1 gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients with ANOS1 mutations. PATIENTS AND METHODS: Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients' ANOS1 gene sequences were analyzed by direct sequencing of PCR-amplified products. In silico analysis was used to assess functional relevance of newly identified missense mutations...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28777865/-results-of-thalassemia-screening-and-genetic-diagnosis-for-13-738-pregnant-women
#10
Yuanyuan Han, Wei Dai, Xingmei Liu, Guifang Li, Yin Xu, Xingwei Ma, Yuanyuan Li, Wenping Han, Nannan Yang, Qin Xu, Ling Huang, Shengwen Huang
OBJECTIVE: To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. METHODS: Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777864/-genetic-analysis-and-prenatal-diagnosis-for-a-pregnant-woman-with-an-unbalanced-t-1-2-t-6-7-translocation-and-intellectual-disability
#11
Yinhong Zhang, Bicheng Yang, Xinhua Tang, Shu Chen, Rui Yu, Jing He, Jie Su, Shu Zhu, Baosheng Zhu
OBJECTIVE: To provide genetic analysis for a pregnant woman with chromosomal translocations and intellectual disability, and to provide prenatal diagnosis for her fetus. METHODS: Routine G-banding was performed to analyze the karyotypes of the woman and her fetus. Copy number variants were determined with array comparative genomic hybridization (array-CGH). RESULTS: The pregnant woman has carried an apparently balanced translocation involving chromosomes 1, 2, 6 and 7, with a karyotype of 46, XX, t(1;2) (p22;p23), t(6;7) (q21;p15)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777850/-analysis-of-clinical-phenotypes-and-gjb2-gene-mutations-in-families-affected-with-hearing-loss-from-southern-zhejiang
#12
Chenyang Xu, Yanbao Xiang, Chong Chen, Xiaoling Lin, Huanzheng Li, Jinfang Lu, Lin Hu, Xueqin Xu, Shaohua Tang
OBJECTIVE: To analyze the clinical features and pathological mutations in 44 families affected with hearing loss from southern Zhejiang, and to provide genetic counseling and prenatal diagnosis for 6 of the families. METHODS: Microarray was employed to detect c.35delG, c.176del16, c.235delC and c.299-300delAT mutations of the GJB2 gene among 228 patients. For those carrying a single heterozygous mutation, the whole coding region of the GJB2 gene was analyzed by Sanger sequencing...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777843/-genetic-and-prenatal-diagnosis-for-a-haemophilia-a-family-with-two-novel-mutations-of-f8-gene
#13
Tao Li, Qiaofang Hou, Hongyan Liu, Hai Xiao, Bo Zhang, Shiling Liu, Yanli Yang, Chaoyang Zhang, Xuebing Ding, Shixiu Liao
OBJECTIVE: To conduct genetic diagnosis for a family affected with hamophilia A. METHODS: Potential mutations of the F8 gene were analyzed with PCR and Sanger sequencing. Carriers of the mutation were identified through linkage analysis using short tandem repeat (STR) markers. Suspected mutations were verified among 100 healthy controls to rule out genetic polymorphism. Prenatal diagnosis was provided based on the above results. RESULTS: Sequencing analysis has identified two mutations, c...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#14
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28771243/b3gat3-related-disorder-with-craniosynostosis-and-bone-fragility-due-to-a-unique-mutation
#15
Kevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, Christine Coubes, Patricia Blanchet, Christian Herlin, Ikram Taleb Arrada, Elodie Sanchez, Jean-Michel Faure, Marie-Pascale Le Gac, Olivier Prodhomme, Anne Boland, Vincent Meyer, Jean-Baptiste Rivière, Yannis Duffourd, Jean-François Deleuze, Thomas Guignard, Guillaume Captier, Mouna Barat-Houari, David Genevieve
PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing. RESULTS: All sequenced patients showed a unique homozygous mutation of c...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#16
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28764586/retrospective-analysis-of-4761-cases-who-underwent-amniocentesis-in-southeast-china
#17
Hehua Tao, Jianping Xiao, Canfeng Yang, Jun Wang, Ye Tang, Caiqin Guo, Junfeng Wang
The aim of this study was to examine the clinical and cytogenetic results of 4761 amniocentesis (AS) cases retrospectively in our clinic in southeast China. The prenatal diagnosis indications, detected chromosomal anomalies and the detection rate of chromosomal abnormalities were studied in 4761 patients who underwent AS between June 2014 and July 2016 retrospectively. Chromosomal abnormality was detected in 137 (2.88%) of the 4761 samples (89.1% numerical, 10.9% structural). The most frequent numerical chromosomal abnormality was trisomy 21 (59...
August 1, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28758373/fetal-cerebral-ventricular-dilatation-etiopathogenic-study-of-130-observations
#18
Sihem Darouich, Lucile Boutaud, Bettina Bessières, Maryse Bonnière, Jelena Martinovic, Charlotte Mechler, Caroline Alby, Jean-Pierre Bernard, Philippe Roth, Yves Ville, Valerie Malan, Michel Vekemans, Tania Attié-Bitach, Férechté Encha-Razavi
BACKGROUND: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. The goals are to determine the physiopathological mechanisms and etiologies. METHODS: We retrospectively analyzed a series of 130 fetuses examined at the Necker University Hospital following termination of pregnancy between January 2000 and December 2014...
July 31, 2017: Birth defects research
https://www.readbyqxmd.com/read/28757935/cleft-palate-only-current-concepts
#19
L Tettamanti, A Avantaggiato, M Nardone, J Silvestre-Rangil, A Tagliabue
Cleft palate only (CPO) is one of the most common congenital malformations worldwide. The etiopathogenesis of CPO is not completely understood. Environmental factors, such as smoking, alcohol consumption, intake of drugs during pregnancy, advanced paternal age, have been demonstrated to be a risk of CPO, but conflicting results have also been published. Insufficient intake of folic acid during the pregnancy has been suggested to increase the risk for CPO. The demonstrated risk for siblings and the higher risk for monozygotic twins suggest a genetic etiopathogenesis for CPO...
January 2017: Oral & Implantology
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#20
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
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