A Discrete Choice Experiment

Total Page:16

File Type:pdf, Size:1020Kb

A Discrete Choice Experiment Wu et al. BMC Pregnancy and Childbirth (2020) 20:604 https://doi.org/10.1186/s12884-020-03270-7 RESEARCH ARTICLE Open Access Eliciting women’s preference for prenatal testing in China: a discrete choice experiment Liangzhi Wu1,2†, Yanxin Wu3†, Shiqian Zou3,4†, Cong Sun5, Junyu Chen6, Xueyan Li4, Zihang Lin6, Lizhi Guan6, Qing Zeng6, Sihan Zhao6, Jingtong Liang6, Rui Chen5, Zhiwen Hu6, Kingyan Au6, Daipeng Xie6, Xiaomin Xiao1 and Wai-kit Ming1,3,4,7* Abstract Background: Pregnancy tests can be used for the early diagnosis of fetal problems and can prevent abnormal birth in pregnancies. Yet, testing preferences among Chinese women are poorly investigated. Methods: We developed a Discrete Choice Experiment with 5 attributes: test procedure, detection rate, miscarriage rate, time to wait for result, and test cost. By studying the choices that the women make in the hypothetical scenarios and comparing the attributes and levels, we can analyze the women’s preference of prenatal testing in China. Results: Ninety-two women completed the study. Respondents considered the test procedure as the most important attribute, followed by detection rate, miscarriage rate, wait time for result, and test cost, respectively. The estimated preference weight for the non-invasive procedure was 0.928 (P < 0.0001). All other attributes being equal, the odds of choosing a non-invasive testing procedure over an invasive one was 2.53 (95% confidence interval, 2.42–2.64; P < 0.001). Participants were willing to pay up to RMB$28,810 (approximately US$4610) for a non-invasive test, RMB$6061(US$970) to reduce the miscarriage rate by 1% and up to RMB$3356 (US$537) to increase the detection rate by 1%. Compared to other DCE (Discrete Choice Experiment) studies regarding Down’s syndrome screening, women in our study place relatively less emphasis on test safety. Conclusions: The present study has shown that Chinese women place more emphasis on detection rate than test safety. Chinese women place great preference on noninvasive prenatal testing, which indicate a popular need of incorporating noninvasive prenatal testing into the health insurance coverage in China. This study provided valuable evidence for the decision makers in the Chinese government. Keywords: Choice behavior, Women, Discrete choice experiment, Prenatal diagnosis * Correspondence: [email protected] †Liangzhi Wu, Yanxin Wu and Shiqian Zou are joint first authors. 1The Department of Obstetrics and Gynecology, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China 3Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Wu et al. BMC Pregnancy and Childbirth (2020) 20:604 Page 2 of 8 Background the process for shared decision making for the choice of Prenatal testing can be used for early detection of fetal best diagnostic strategy in high-risk pregnancies. abnormalities such as Down syndrome. In China, when Recently, DCE has been widely used in health-care re- a diagnosis of fetal Down syndrome is made, the parents search to understand the patients’ preferences for medi- can opt for continuation or termination of pregnancy. cations and health services [12]. Lean Beulen, et al. Indeed, there’re some areas where termination of preg- applied DCE to estimate the preference of women and nancy complicated with Down syndrome is not allowed, healthcare professionals for prenatal testing in the option maybe different, hence the doctor’s consider- Netherlands [13]. But to our knowledge, no investiga- ation is even more important [1]. Several types of pre- tions has been performed about women’s preferences for natal tests are currently used for this purpose that varies prenatal testing in China. regarding diagnostic performance, invasiveness, and cost. Chorionic villus sampling that involves obtaining a sam- ple from the placenta and amniocentesis test that re- Objectives quires sampling of amniotic fluid by using a hollow To investigate the relative importance of attributes of needle inserted into the uterus are examples of invasive prenatal testing among Chinese women. testing that often provides an accurate diagnosis of po- tential developmental abnormalities in a fetus. Non- Methods invasive prenatal testing (NIPT) that usually rely on a Study population simple blood test from the mother are generally safe and The study was conducted at a university hospital in less costly than invasive prenatal testing but are associ- South China (The First Affiliated Hospital of Sun Yat- ated with higher false negative rates. The research found sen University, Guangzhou, China). We recruited our that the costs are similar as current Down’s screening at sample from women with relatively high-risk pregnancy the cost of £500 per NIPT in the United Kingdom and, who visited the outpatient clinic for prenatal consult- compared with the first trimester combined screening ation between 18 January 2018 and 2 April 2018. Inclu- (measurement of serum markers PAPP-A and β-hCG as sion criteria: 1. At least 18-years-old; 2. Attending the well as first-trimester ultrasound) and integrated screen- first visit for prenatal diagnostic consultation; 3. Gesta- ing (first trimester combined screening and Quad tional period no more than 20 weeks; 4. Ability to com- screening of serum markers (AFP, estriol, hCG, Inhibin ply with the protocol procedures. Exclusion criteria: 1. A)), NIPT have a better Trisomy 21 detection and re- Women with obstetrics related medical history; 2. Those duce euploid fetal loss with a lower total healthcare cost who has gestational period more than 20 weeks. Because in the United States [2, 3]. Women at high risk of having they had previously received a prenatal diagnostic con- babies with genetic abnormalities, usually are offered in- sultation and are not representative for the overall vasive prenatal diagnosis, to ensure higher detection women in China. rates. However, in approximately 1–2% of cases, invasive prenatal testing might result in miscarriage, even when the baby is healthy [4, 5]. Recently, non-invasive test, Discrete choice experiment which is based on the technology to investigate the Cell- The DCE methodology is grounded in multi-attribute free DNA inside a maternal blood sample, has become utility theory in economics. The technique is based on one of the major alternatives of invasive tests and is also the assumption that any commodity (e.g., prenatal diag- available in China, and the accuracy of NIPT was re- nosis test) can be characterized by several key attributes ported with a > 99% for trisomy 21 in both sensitivity and their levels (e.g., test procedure, detection rate, test – and specificity [6 8]. However, in the past decade, it is cost). Therefore, individuals choose among their options not included in the universal coverage, patient have to (e.g., different prenatal testing) by comparing those attri- pay for themselves, and the services are mainly provided butes and levels in hypothetical scenarios. by the private laboratories. NIPT has been introduced for a self-payment option in a national health screening programme for pregnancy Attribute and attribute levels in some jurisdictions in China [9]. However, there is still Possible attributes were identified from a panel of expe- a debate about the optimal choices, considering the rienced directors of gynaecology and obstetrics depart- trade-offs that need to be made among different attri- ment in the First Affiliated Hospital of Sun Yat-sen butes of various prenatal tests, including detection rate, University. And the five attributes are finally selected as the risk of miscarriage, invasiveness, and cost [10, 11]. test procedure, time to wait for results, detection rate, Understanding women’s preferences for different attri- miscarriage and test cost with their different levels. butes of prenatal tests can help physicians to enhance (Table 1). Wu et al. BMC Pregnancy and Childbirth (2020) 20:604 Page 3 of 8 Table 1 Attributes and Levels The test profiles presented in choice questions were cre- Attributes Levels of attributes (regression coding) ated by generating permutations of attribute levels. There Test procedure L1 Invasive: requires collecting samples from are total 360 combinations we could generate based on the amniotic fluid or placenta. level of each attribute. We then created a fractional factorial L2 Non-invasive: only requires a sample of design using Sawtooth that met balance and orthogonality mother’s blood. properties [16]. Balance (i.e., each attribute level appears Time to wait for L1 1 week equally often within an attribute) and orthogonality (i.e., results L2 2 weeks each pair of levels appears equally often across all pairs of L3 3 weeks attributes) ensures minimizing the bias and improves the precision of estimated preferences. We generated 100 ver- Detection rate L1 94% sions of the questionnaire and assigned each respondent to L2 96% a version in a random manner to facilitate achieving bal- L3 98% ance and orthogonality.
Recommended publications
  • Second Tier Non-Invasive Prenatal Testing in a Regional
    CME ORIGINAL ARTICLE Second tier non-invasive prenatal testing in a regional prenatal diagnosis service unit: a retrospective analysis and literature review Vivian KS Ng *, Avis L Chan, WL Lau, WC Leung ABSTRACT maternal employment, and conception by assisted reproductive technology are common factors The Hong Kong Hospital Authority Introduction: associated with self-financed NIPT after positive has newly introduced a new Down’s syndrome screening. Among women choosing NIPT, the rates screening algorithm that offers free-of-charge non- of abnormal results have typically been around 8% in invasive prenatal testing (NIPT) to women who studies performed in Hong Kong. screen as high risk. In preparation for this public- funded second tier NIPT service, the present study Conclusion: Implementation of second tier NIPT in was conducted to retrospectively analyse women the public setting is believed to be able to improve eligible for NIPT and to review the local literature. quality of care. We expect that the public in Hong Kong will welcome the new policy. Methods: Our retrospective study included women screened as high risk for Down’s syndrome (adjusted term risk ≥1:250) during the period of 1 January 2015 to 31 December 2016. We performed descriptive Hong Kong Med J 2020;26:10–8 statistics and multivariable logistic regression to https://doi.org/10.12809/hkmj198197 examine the factors associated with women’s choice between NIPT and invasive testing. We also reviewed 1 VKS Ng *, MB, ChB, FHKAM (Obstetrics and Gynaecology) 1,2 existing local literature about second tier NIPT. AL Chan, MB, BS, FHKAM (Obstetrics and Gynaecology) 1 WL Lau, MB, BS, FHKAM (Obstetrics and Gynaecology) Results: The study included 525 women who 1 WC Leung, MD, FHKAM (Obstetrics and Gynaecology) screened positive: 67% chose NIPT; 31% chose 1 invasive diagnostic tests; and 2% declined further Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Yaumatei, Hong Kong testing.
    [Show full text]
  • Genetic Counselling
    European School of Genetic Medicine Basic and Advanced Course in Genetic Counselling Bertinoro, Italy, April 30 – May 6 Bertinoro University Residential Centre Via Frangipane, 6 – Bertinoro Course Directors: F. Forzano (Galliera Hospital, Italy) H. Skirton (Plymouth University, UK) Basic and Advanced Course in Genetic Counselling Bertinoro, Italy, April 30 – May 6 CONTENTS PROGRAMME 3 ABSTRACTS OF LECTURES 8 FACULTY WHO’S WHO 43 STUDENTS’ WHO’S WHO 45 2 BASIC AND ADVANCED COURSE IN GENETIC COUNSELLING Bertinoro University Residential Centre (Italy), April 30 - May 6, 2014 Arrival day: Tuesday April 29th Wednesday, April 30th – BASIC 14.00 – 14.30 Introduction to the course F. Forzano 14.30 – 15.30 Setting the scene – aims, process and outcomes of genetic counselling C. Patch 15.30 – 16.30 Inheritance models and risk assessment M. Soller 16.30 – 17.00 Coffee Break 17.00 – 18.00 Prenatal diagnosis: scenarios and issues M. Soller 18.00 – 18.30 Discussion Thursday, May 1st – BASIC Morning Session 9.00 – 10.00 Molecular analysis: old and new diagnostic tools M. Iascone 10.00- 11.00 Cytogenetics: current status and future perspectives J. Baptista 11.00 – 11.30 Coffee Break 11.30 – 12.30 Genetics of intellectual disability F. Forzano 12.30 – 13.30 Lunch Break 3 Afternoon Session: 14.00 – 15.30 Concurrent Workshops A-B 15.30 - 16.00 Coffee Break 16.00 – 17.30 Concurrent Workshops B-A Workshop A: case discussion, clinical Workshop B: case discussion, lab Friday, May 2nd – BASIC Morning Session 9.00 - 10.00 Basic concepts on dysmorphology F. Forzano 10.00 – 11.00 Cancer genetics: scenarios and issues D.
    [Show full text]
  • Recurrent Miscarriage: Unraveling the Complex Etiology
    RECURRENT MISCARRIAGE: UNRAVELING THE COMPLEX ETIOLOGY by Courtney Wood Hanna B.Sc., The University of British Columbia, 2006 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY in THE FACULTY OF GRADUATE STUDIES (Medical Genetics) THE UNIVERSITY OF BRITISH COLUMBIA (Vancouver) April 2013 © Courtney Wood Hanna, 2013 Abstract Recurrent miscarriage (RM), defined as 3 or more consecutive spontaneous losses of pregnancy before 20 weeks gestation, affects 1-2% of couples and has a complex etiology. Half of miscarriages from RM cases are caused by chromosomal abnormalities in the embryo and while there are several associated maternal factors, underlying causes and clinically relevant biomarkers have been elusive. I hypothesized that genetic and/or epigenetic factors associated with maternal meiotic non-disjunction, reproductive aging and endocrinological profile, or placental functioning will contribute to the etiology of RM. In these case-control studies, I investigated the association between RM and 1) maternal mutations in synaptonemal complex protein 3 (SYCP3), 2) maternal telomere lengths, 3) maternal polymorphisms in genes in the hypothalamus-pituitary-ovarian (HPO) axis and 4) placental DNA methylation patterns. The findings suggest that maternal mutations in SYCP3 and polymorphisms in HPO axis genes may not contribute significantly to risk for RM. No mutations in SYCP3 were identified in women with RM with at least one trisomic conception. While associations between polymorphisms within the estrogen receptor β, activin receptor 1, prolactin receptor and glucocorticoid receptor genes and RM were identified, these were not significant after correction for multiple comparisons. Aspects of chromosomal biology may be important factors in the etiology of RM.
    [Show full text]
  • Evaluation of Pregnancies in 25 Families with Balanced/ Unbalanced Chromosomal Translocations
    © Kamla-Raj 2019 Int J Hum Genet, 19(1): 22-28 (2019) PRINT: ISSN 0972-3757 ONLINE: ISSN 2456-6330 DOI: 10.31901/24566330.2019/19.01.713 Evaluation of Pregnancies in 25 Families with Balanced/ Unbalanced Chromosomal Translocations Naz Guleray1, Halise Meltem Yucesoy2, Erdem Fadiloglu2, Atakan Tanaçan2, Mehmet Alikasifoglu1 and Mehmet Sinan Beksac2 1Department of Medical Genetics 2Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey KEYWORDS Chorion Villus Sampling. Chromosomal Translocation. Pregnancy Outcome. Prenatal Diagnosis ABSTRACT The researchers evaluated pregnancies in families with balanced/unbalanced translocations. This clinical cohort consisted of 25 pregnancies with balanced/unbalanced chromosomal translocations in family member(s) (maternal, paternal, fetal, abortion material, and/or previous fetus(es)) who underwent prenatal diagnosis. Translocations were observed in 18 cases (14 balanced and 4 unbalanced translocations). The researchers found 2 and 12 cases among the chromosomal translocations were paternal and maternal in origin, respectively. The researchers demonstrated that parent karyotypes were normal in 4 cases, while only maternal karyotypes were normal in 3 cases with unknown paternal karyotypes. Five of the prenatally diagnosed chromosomal abnormalities were Robertsonian and 13 were reciprocal translocations, Among the Robertsonian translocations, 2 were unbalanced. Early fetal loss or recurrent miscarriages were observed in previous history of 10(40%) and 6(24%)
    [Show full text]
  • Prescribing in Pregnancy, Fourth Edition
    BLUK112-Rubin October 10, 2007 10:41 Prescribing in Pregnancy BLUK112-Rubin October 10, 2007 10:41 Prescribing in Pregnancy Fourth edition Edited by Peter Rubin Nottingham University Hospitals Queen’s Medical Centre Campus Nottingham, UK Margaret Ramsay Nottingham University Hospitals Queen’s Medical Centre Campus Nottingham, UK BLUK112-Rubin October 10, 2007 10:41 C 2000 BMJ Publishing Group C 2008 by Blackwell Publishing BMJ Books is an imprint of the BMJ Publishing Group Limited, used under licence Blackwell Publishing, Inc., 350 Main Street, Malden, Massachusetts 02148-5020, USA Blackwell Publishing Ltd, 9600 Garsington Road, Oxford OX4 2DQ, UK Blackwell Publishing Asia Pty Ltd, 550 Swanston Street, Carlton, Victoria 3053, Australia The right of the Author to be identified as the Author of this Work has been asserted in accordance with the Copyright, Designs and Patents Act 1988. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher. First published 1987 Second Edition 1995 Third Edition 2000 Fourth Edition 2008 1 2008 Library of Congress Cataloging-in-Publication Data Prescribing in pregnancy / edited by Peter Rubin, Margaret Ramsay. – 4th ed. p. ; cm. ISBN 978-1-4051-4712-5 (pbk.) 1. Obstetrical pharmacology. I. Rubin, Peter C. II. Ramsay, M. M., M.D. [DNLM: 1. Drug Therapy.
    [Show full text]
  • No Consensus on Cellular Phone RF Radiation Levels in Brain (Continued from P.1)
    Vol. XIV No. 1 A Report on Non-Ionizing Radiation January/February 1994 INSIDE... No Consensus on Cellular Phone EMF NEWS pp.2-7 RF Radiation Levels in Brain Power Line Talk: Thériault Occupational Study Due in Measurements of the radiofrequency (RF) radiation absorbed in the March • Predictions for EMF Litigation • brains of users of hand-held cellular phones are yielding vastly different re- NCRP Meeting • State Bills Call for Power sults. The variation among labs is more than thirtyfold and some phones Line Moratoriums • Brodeur Appears as have been found to exceed the 1992 ANSI/IEEE C95.1 safety guidelines. Expert Witness in Rhode Island • PP&L Well-publicized results from Dr. Om Gandhi’s lab at the University of and Scranton, PA, Reach Agreement Utah, Salt Lake City, show that the maximum peak specific absorption rate Proposed Budget Increase for the NERP (SAR) in one gram of tissue from a cellular phone with a power output of Mitigation Tutorial at April IEEE/PES Expo 0.6 watts is approximately 0.17 W/Kg. In contrast, Dr. Niels Kuster of the Decision on Swedish Exposure Limits Swiss Federal Institute of Technology in Zurich has measured, under worst- Delayed Until Spring; Report Issued case conditions, an SAR of 5.3 W/Kg. In the U.S., the ANSI/IEEE standard Exposure Assessment: Reports & Papers specifies a maximum SAR of 1.6 W/Kg averaged over one gram of tissue. Legal Notebook: This lack of agreement has led to contradictory views about the safety Decision Due in Seattle Electrical Worker of cellular phones.
    [Show full text]
  • Biologically Infallible? Men's Views on Male Age‐Related Fertility Decline and Sperm Freezing
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by De Montfort University Open Research Archive Sociology of Health & Illness Vol. xx No. xx 2020 ISSN 0141-9889, pp. 1–15 doi: 10.1111/1467-9566.13116 Biologically infallible? Men’s views on male age-related fertility decline and sperm freezing Caroline Law Faculty of Health and Life Sciences, School of Applied Social Sciences, De Montfort University, Leicester, UK Abstract Trends in people having children later in life and increasing evidence of male age- related fertility decline (ARFD) has led some to propose sperm freezing as a suitable response. However, little consideration has been given to how men might respond to such a proposal, and there has been a paucity of empirical data to inform such a consideration. This paper arises from in-depth, semi-structured interviews with men (n = 25) who do not have children but want or expect to have them in the future. Data on men’s perceptions of male ARFD and sperm freezing are presented and discussed in accordance with theoretical and conceptual tools relating to reproductive masculinity, biomedicalisation, gendered risk perception and meanings of sperm and masculinity. It suggests that that men’s overall lack of concern regarding male ARFD and resistance towards ideas of sperm freezing result not only from a lack of exposure to evidence regarding male ARFD but are also shaped by ideals of reproductive masculinity, and may indicate resistance towards the idea of reproductive control. It argues that these positions perpetuate a gender unequal politicisation of ARFD and perpetuate particular gendered subjectivities relating to culpability and responsibility for guarding against risks of ARFD.
    [Show full text]
  • Genetic Variation Within the Hypothalamus-Pituitary-Ovarian Axis in Women with Recurrent Miscarriage
    Hum. Reprod. Advance Access published August 17, 2010 Human Reproduction, Vol.00, No.0 pp. 1–8, 2010 doi:10.1093/humrep/deq211 ORIGINAL ARTICLE Reproductive Genetics Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage Courtney W. Hanna1,2, Karla L. Bretherick3, Chi-Chao Liu2, Mary D. Stephenson4,5, and Wendy P. Robinson1,2,* 1Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada 2Child and Family Research Institute, 950 W. 28th Ave, Room 3086, Vancouver, British Columbia V5Z 4H4, Canada 3Genome Sciences Centre, British Columbia Cancer Research Centre, Vancouver, British Columbia V5Z 1L3, Canada 4Department of Obstetrics and Gynecology, University of Chicago, Chicago, IL 60637, USA 5Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Downloaded from Canada *Correspondence address. E-mail: [email protected] Submitted on March 15, 2010; resubmitted on July 16, 2010; accepted on July 21, 2010 http://humrep.oxfordjournals.org/ background: Recurrent miscarriage affects 1–2% of couples trying to conceive, and is idiopathic in nearly half. Female fertility is con- trolled by the hypothalamus-pituitary-ovarian (HPO) axis and we hypothesize that genetic polymorphisms affecting the function of genes involved in regulating the HPO axis will be associated with recurrent miscarriage. methods: Whole peripheral blood DNA from 227 women with recurrent miscarriage and 130 control women was obtained for this study. Using the Sequenom iPlex assay for fragment analysis, 31 single-nucleotide polymorphisms (SNPs) and 4 short tandem repeat (STR) polymorphisms in 20 candidate genes were evaluated for genetic association with recurrent miscarriage.
    [Show full text]
  • X-Linked Genetic Factors Behind Gender Bias in Rheumatoid Arthritis
    SAMI-BARNA KANAAN X-LINKED GENETIC FACTORS BEHIND GENDER BIAS IN RHEUMATOID ARTHRITIS DISSERTATION DISCIPLINE: IMMUNOLOGY; SUPERVISED BY DR. NATHALIE C. LAMBERT THE DOCTORAL COLLEGE OF LIFE SCIENCE AND HEALTH (ECOLE DOCTORALE DES SCIENCES DE LA VIE ET DE LA SANTE – ED62) OF AIX MARSEILLE UNIVERSITY, FRANCE JURY: PR. JEAN ROUDIER (PRESIDENT) PR. SÉLIM ARACTINGI (REVIEWER) PR. JEAN-CHARLES GUÉRY (REVIEWER) DR. NATHALIE C. LAMBERT (SUPERVISOR) PR. PHILIPPE NAQUET (EXAMINATOR) DR. CHRISTOPHE PICARD (EXAMINATOR) MARSEILLE, FRANCE – 20TH OF DECEMBER 2013 SAMI-BARNA KANAAN FACTEURS DE RISQUE LIES AU CHROMOSOME X A L’ORIGINE DE LA PREDOMINANCE DES FEMMES DANS LA POLYARTHRITE RHUMATOÏDE THESE SOUMISE A L’ECOLE DOCTORALE DES SCIENCES DE LA VIE ET DE LA SANTE – ED62 D’AIX MARSEILLE UNIVERSITE, FRANCE POUR L’OBTENTION DU DIPLOME DE DOCTEUR D’AIX-MARSEILLE UNIVERSITE DISCIPLINE : IMMUNOLOGIE LABORATOIRE : INSERM UMRs1097 “GENES HLA-DR, AUTOANTICORPS ET MICROCHIMERISME DANS LA POLYARTHRITE RHUMATOÏDE ET LA SCLERODERMIE” DIRECTRICE DE THESE : DR. NATHALIE C. LAMBERT JURY: PR. JEAN ROUDIER (PRESIDENT) PR. SÉLIM ARACTINGI (RAPPORTEUR) PR. JEAN-CHARLES GUÉRY (RAPPORTEUR) DR. NATHALIE C. LAMBERT (DIRECTRICE) PR. PHILIPPE NAQUET (EXAMINATEUR) DR. CHRISTOPHE PICARD (EXAMINATEUR) SOUTENUE PUBLIQUEMENT LE 20 DECEMBRE 2013 – MARSEILLE, FRANCE University Address: Aix-Marseille Université Ecole doctorale des sciences de la vie et de la santé –ED62 Faculté des Sciences de Luminy, case 901, 163 avenue de Luminy, 13288 MARSEILLE cedex 09 France E-mail : [email protected] Laboratory Address: Laboratoire « Gènes HLA-DR, autoanticorps et microchimérisme dans la polyarthrite rhumatoïde et la sclérodermie » INSERM UMRs1097 Parc scientifique et technologique de Luminy, Case 939 163, avenue de Luminy Bâtiment TPR2 Inserm - Entrée A, 1er étage 13288 Marseille cedex 09 France E-mail : [email protected] ACKNOWLEDGMENTS First of all to my sweetheart Yousra who is always encouraging and supporting me in almost everything I do.
    [Show full text]
  • Primary Burkittʼs Lymphoma of the Ovary in Early Weeks of Pregnancy – a Case Report Primäres Burkitt-Lymphom Des Ovars in Der Frühschwangerschaft – Fallbericht
    Case Report 949 Primary Burkittʼs Lymphoma of the Ovary in Early Weeks of Pregnancy – A Case Report Primäres Burkitt-Lymphom des Ovars in der Frühschwangerschaft – Fallbericht Authors H. Steininger, J. Gruden, H. Müller Affiliation Pathologisches Institut, Friedrichshafen Key words Abstract Zusammenfassung l" adolescence ! ! l" ovarian tumour Primary ovarian Burkittʼs lymphoma is a rare Das primäre ovarielle Burkitt-Lymphom ist ein l" pregnancy tumour predominantly affecting children and seltener Tumor, der bei Kindern und jungen Er- Schlüsselwörter young adults. We report here on a 17-year-old wachsenen auftreten kann. Im vorliegenden Fall l" Adoleszenz pregnant woman with a Burkittʼs lymphoma of handelt es sich um eine 17-jährige, schwangere l" Ovarmalignom the left ovary. After tumour removal and induced Patientin mit Befall des linken Ovars. Nach Entfer- l" Schwangerschaft abortion, the patient underwent polychemother- nung des Tumors und Abortinduktion wurde eine apy. Full remission was achieved 7 months after Polychemotherapie durchgeführt, unter der es the initial diagnosis. 7 Monate nach Diagnosestellung zur Vollremis- sion kam. Introduction rump length of 4 cm. A 7.5 cm large solid pelvic ! mass was visible at the left adnexa. Malignant lymphomas of the female genital tract Laparoscopic investigation showed a tumour of are unusual, and less than 1% of patients with a the left ovary of unclear malignancy and origin. diagnosis of malignant lymphoma present with The patient underwent laparatomy with removal an enlarged ovary as the initial manifestation [1, of the left ovary. There were no other pathological 2]. In more than 90% of cases, the malignancy is a intra-abdominal findings. The peritoneum was B-cell non-Hodgkin lymphoma, often with sec- smooth; the right adnexa, omentum and liver ondary involvement due to systemic disease [2, were unremarkable; no enlarged lymph nodes 3].
    [Show full text]
  • Miscarriage Risks and Treatments
    Miscarriage Risks and Treatments Miscarriage is the loss of a pregnancy before 20 weeks. Most often this occurs before the 12th week. The American College of Obstetrics and Gynecology reports that about 15 – 20 percent of all pregnancies may end in miscarriage. The number is most likely much higher. It often happens before the woman knows that she is pregnant. A woman may notice one or more of the warning signs listed below. • Spotting or bleeding from the vagina • Pain or cramping in the lower back or abdomen • Fluid or tissue passing from the vagina Spotting and bleeding early on is fairly common. It does not always mean you will miscarry. Most of the women who have this symptom go on to have a normal pregnancy. Risk Factors for Miscarriage There are many reasons why miscarriage occurs. The most common is that the fetus does not develop as it should. This is most often a problem with the baby’s genes or chromosomes. Development may not occur normally as the embryo divides and grows. It is not typically a problem inherited from the parents. There are things that increase the risk of miscarriage: • Age – women older than 35 are at a higher risk than younger women. The father’s age may also play a role. This has not been studied as much. The higher risk is most likely chromosomal as the eggs and sperm age. • Previous miscarriage – a woman who has had two or more miscarriages is at a higher risk of having one again. After one loss, the risk of miscarriage is the same as a woman who has never had a miscarriage.
    [Show full text]
  • A Review from 1970 to 1985
    J Med Genet: first published as 10.1136/jmg.24.6.335 on 1 June 1987. Downloaded from Journal of Medical Genetics 1987, 24, 335-343 Midtrimester genetic amniocentesis in Eastern Ontario: a review from 1970 to 1985 ALASDAIR G W HUNTER, DIANE THOMPSON, AND MARSHA SPEEVAK From the Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada KJH 8L1. SUMMARY Greater use of genetic amniocentesis in the Eastern Ontario region occurred once the results from the various national trials were published.1-3 Acceptance also paralleled an increase in the number of low parity older women having children and the centralisation and greater publicity given to our programme in the late 1970s. A centralised approach has had the positive effects of preventing unnecessary procedures, assuring appropriate patient counselling, follow up, and review, and of increasing obstetric and laboratory expertise. Advanced maternal age has been largely responsible for the increased demand for the service and accounted for an increasing proportion of tests performed, while the absolute number for several other diagnostic categories remained unchanged. We found no evidence that women with a history of previous miscarriage had a higher rate of pregnancy loss following the procedure, and comparison with a group of women who declined amniocentesis did not show that the test increased the risk of miscarriage. copyright. Genetic amniocentesis was first offered in Ottawa in Methods 1970. From then until the end of 1985, 4084 women contacted the Division of Genetics and 3275 of them Only three amniocenteses were carried out in Ottawa underwent the procedure. By 1 January 1979 over 20 before the beginning of the Canadian MRC study in obstetricians had performed a total of 370 tests, and January 1972, which introduced specific data col- the early cases were contributed to the Canadian lection forms and the requirement that patients be http://jmg.bmj.com/ Collaborative Study.' In 1979 area obstetricians followed up.
    [Show full text]