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Prenatal genetic diagnosis

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https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#1
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29162676/the-role-of-genetic-counseling-in-pompe-disease-after-patients-are-identified-through-newborn-screening
#2
Andrea M Atherton, Debra Day-Salvatore
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29162597/prevalence-and-clinical-profile-of-microcephaly-in-south-america-pre-zika-2005-14-prevalence-and-case-control-study
#3
Iêda M Orioli, Helen Dolk, Jorge S Lopez-Camelo, Daniel Mattos, Fernando A Poletta, Maria G Dutra, Flavia M Carvalho, Eduardo E Castilla
Objective To describe the prevalence and clinical spectrum of microcephaly in South America for the period 2005-14, before the start of the Zika epidemic in 2015, as a baseline for future surveillance as the Zika epidemic spreads and as other infectious causes may emerge in future.Design Prevalence and case-control study.Data sources ECLAMC (Latin American Collaborative Study of Congenital Malformations) database derived from 107 hospitals in 10 South American countries, 2005 to 2014. Data on microcephaly cases, four non-malformed controls per case, and all hospital births (all births for hospital based prevalence, resident within municipality for population based prevalence)...
November 21, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29157486/nouveaut%C3%A3-s-dans-l%C3%A2-hyperplasie-cong%C3%A3-nitale-des-surr%C3%A3-nales-new-insights-in-congenital-adrenal-hyperplasia
#4
L Dumeige, C Bouvattier, M Lombès
Congenital adrenal hyperplasia is an autosomal recessive disease due to functional abnormalities of adrenal steroid enzymes. The most common form of the disease is due to a 21-hydroxylase deficiency. The classical forms (most severe) are characterized by a deficiency in cortisol and sometimes in aldosterone, which may compromise the vital prognosis of neonates, and by an increase in androgen synthesis, leading to the virilization of girls' external genitalia at birth, followed by clinical signs of hyperandrogenism during childhood and adolescence...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29149251/parental-age-and-risk-of-lymphoid-neoplasms
#5
Gunnar Larfors, Ingrid Glimelius, Sandra Eloranta, Karin E Smedby
High parental age at childbirth has repeatedly been linked to childhood malignancies, while few studies have focused on the offspring's risk of adult cancer. In this population-based case-control study, we identified 32,000 patients with lymphoid neoplasms, diagnosed at ages 0-79 years during the period 1987-2011, and 160,000 matched controls in Sweden. Using prospectively registered data on their first-degree relatives, we evaluated the impact of parental age on the risk of lymphoid neoplasms by subtype. Overall, each 5-year increment in maternal age was associated with a 3% increase in incidence of offspring lymphoid neoplasms (hazard ratio = 1...
November 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#6
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29132462/-familial-male-limited-precocious-puberty-due-to-asp578his-mutations-in-the-lhcgr-gene-clinical-characteristics-and-gene-analysis-in-an-infant
#7
Min Wang, Min Li, Yue-Sheng Liu, Si-Min Lei, Yan-Feng Xiao
The aim of the study was to provide a descriptive analysis of familial male-limited precocious puberty (FMPP), which is a rare inherited disease caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR). The patient was a ten-month-old boy, presenting with penile enlargement, pubic hair formation, and spontaneous erections. Based on the clinical manifestations and laboratory data, including sexual characteristics, serum testosterone levels, GnRH stimulation test, and bone age, this boy was diagnosed with peripheral precocious puberty...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29132460/-genetic-diagnosis-of-10-neonates-with-primary-carnitine-deficiency
#8
Jian-Qiang Tan, Da-Yu Chen, Zhe-Tao Li, Ti-Zhen Yan, Ji-Wei Huang, Ren Cai
OBJECTIVE: To study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD. METHODS: Acylcarnitine profile analysis was performed by tandem mass spectrometry using 34 167 dry blood spots on filter paper. The SLC22A5 gene was sequenced and analyzed in neonates with free carnitine (C0) levels lower than 10 μmol/L as well as their parents...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29124982/pre-gestational-thalassemia-screening-in-mainland-china-the-first-two-years-of-a-preventive-program
#9
Fan Jiang, Gui-Lan Chen, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Can Liao, Dong-Zhi Li
In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - -(SEA) and - -(THAI) deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1...
November 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29118296/mismatch-between-fetal-sexing-and-birth-phenotype-a%C3%A2-case-of-complete-androgen-insensitivity-syndrome
#10
Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance...
November 9, 2017: Endocrine Journal
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
#11
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/29105053/conversations-with-french-medical-geneticists-a-personal-perspective-on-the-origins-and-early-years-of-medical-genetics-in-france
#12
REVIEW
P S Harper
The history of the beginnings of medical genetics in France is discussed, based on the personal perspective provided by recorded interviews with 16 early French workers in the field. The weakness of French genetics overall up to the beginning of the Second World War meant that post-war medical genetics had to start from new, with its origins largely derived from the medical fields of child health and the prevention of genetic disorders, rather than from basic science. The key people responsible for initiating these developments were Robert Debré and Maurice Lamy at Hôpital Necker in Paris and those interviewed included a number of their colleagues and successors, including Jean Frézal, Pierre Maroteaux, Josué Feingold, André and Joelle Boué, and Jean-Claude Kaplan...
November 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#13
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
November 3, 2017: Pediatrics
https://www.readbyqxmd.com/read/29099659/identification-of-a-de-novo-ank1-mutation-in-a-chinese-family-with-hereditary-spherocytosis
#14
Hongzai Guan, Xinping Liang, Rong Zhang, Haiyan Wang, Wenmiao Liu, Ru Zhang, Jie Yang, Shiguo Liu
OBJECTIVES: Hereditary spherocytosis (HS) is a genetic heterogeneous disorder characterized by sphere-shaped erythrocytes on peripheral blood smear with a few clinical manifestations. As an important red cell membrane protein, ankyrin 1 can interact with transmembrane proteins and the membrane skeleton and mutations in the ankyrin 1 (ANK1) genes affect about half of all patients with HS. The purpose of this study was to investigate a Chinese Han family with HS to find out the causative gene mutation and explore the genotype-phenotype correlation which can provide the basis for the pathogenesis and prenatal diagnosis for this disease...
November 3, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29096039/diagnosis-of-lethal-or-prenatal-onset-autosomal-recessive-disorders-by-parental-exome-sequencing
#15
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C Gunning, Hana Lango-Allen, Lisa Bradley, Angela F Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury-Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L Baple, Sian Ellard
OBJECTIVE: Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parental DNA samples to diagnose recessive monogenic disorders in an audit of the first 50 couples referred. METHOD: Exome sequencing was carried out in a consecutive series of 50 couples who had one or more pregnancies affected with a lethal or prenatal-onset disorder...
November 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29079891/parent-perspectives-of-support-received-from-physicians-and-or-genetic-counselors-following-a-decision-to-continue-a-pregnancy-with-a-prenatal-diagnosis-of-trisomy-13-18
#16
Stephanie E Wallace, Sara Gilvary, Michael J Smith, Siobhan M Dolan
Families that choose to continue a pregnancy with a prenatal diagnosis of Trisomy 13/18 are a minority that present unique challenges for those in charge of their care. This study investigated the extent to which these patients felt supported by their healthcare providers, and any differences in the perceived level of support experienced by those working with a physician versus those working with a genetic counselor. Two online support groups, SOFT and Hope for Trisomy, distributed an online survey to their members...
October 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29068853/neonatal-rhizomelic-chondrodysplasia-punctata-type-1-weaving-evidence-into-clinical-practice
#17
Jessica Landino, Amy J Jnah, Desi M Newberry, Sabine C Iben
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern. RCDP type 1 accounts for greater than 90% of all aggregate cases. Differentiating between the 3 subtypes of RCDP, as well as disorders characterized by similar punctate cartilaginous changes, is essential to guide an appropriate postnatal plan of care. Management strategies are focused toward associated clinical manifestations and require an interdisciplinary approach including ophthalmology, cardiovascular, endocrine, physical and occupational therapy, and neurology...
October 2017: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/29060963/-prenatal-diagnosis-of-17q12-microdeletion-syndrome-in-fetal-renal-abnormalities
#18
Y L Jiang, Q W Qi, X Y Zhou, F F Geng, J J Bai, N Hao, J T Liu
Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys...
October 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29059453/what-s-new-in-prenatal-genetics-a-review-of-current-recommendations-and-guidelines
#19
Annalisa L Post, Amy T Mottola, Jeffrey A Kuller
Importance: The rapid development of prenatal genetic testing and screening tools and choices constantly challenges clinicians to stay up to date on current best practice. Objective: We sought to review, compare, and summarize recent national society guidelines on prepregnancy genetic screening and prenatal diagnosis for aneuploidy with a focus on changes and additions to previous guidelines. Evidence Acquisition: We performed a descriptive review of 8 recently published (2016-2017) national guidelines and updates on prenatal genetic screening and testing including American Congress of Obstetricians and Gynecologists committee opinions and practice bulletins, Society for Maternal-Fetal Medicine consult series publications, and an American College of Medical Genetics and Genomics position statement...
October 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29058294/a-novel-gene-mutation-of-runx2-in-cleidocranial-dysplasia
#20
You-Jian Peng, Qiao-Yun Chen, Dong-Jie Fu, Zhi-Ming Liu, Tian-Tian Mao, Jun Li, Wen-Ting She
Haploinsufficiency of the runt-related transcription factor 2 (Runx2) gene is widely known to be responsible for cleidocranial dysplasia (CCD). To date, more than 190 mutations in Runx2 gene have been reported to be related to CCD. In this study, a novel mutation of Runx2 gene was observed in a female with CCD. Genomic DNA was extracted from peripheral venous blood of the proband and eleven members of her family. Genetic testing on these twelve people identified a novel missense mutation (c.895 T>C, Y299H) in exon 5 of the RUNX2 gene in the proband...
October 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
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