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Efficacy of Genetic Testing in Cases of Ambiguous Genitalia

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Efficacy of Genetic Testing in Cases of Ambiguous Genitalia EFFICACY OF GENETIC TESTING IN CASES OF AMBIGUOUS GENITALIA DETECTED ON PRENATAL! ULTRASOUND ! ! ! by! EVELYN ROSE! CRAWFORD ! ! Submitted in partial fulfillment of !the requirements for the degree of Master of! Science ! ! ! Thesis Advisor: Larisa! Baumanis, MS ! ! Genetic Counseling! Department !of Genetics CASE WESTERN RESERVE! UNIVERSITY ! ! ! ! ! ! ! August, 2014 ! ! CASE WESTERN RESERVE! UNIVERSITY SCHOOL OF GRADUATE! STUDIES We hereby approve! the thesis of: Evelyn Rose! Crawford candidate for the degree of !Master of Science degree.* ! ! Larisa Baumanis, MS (Committee Chair) ! Anne Matthews, RN, PhD ! Noam Lazebnik, MD ! Aditi Parikh, MD ! Sara Debanne, PhD ! ! ! ! Date of Defense June 20, 2014 ! ! ! ! ! *We also certify that written approval has been obtained for any proprietary material contained therein !2 ! ! ! TABLE OF CONTENTS List of Tables 4 List of Figures 5 Acknowledgements 6 Abstract 7 Introduction 8 Purpose of Study & Specific Aims 10 Background 11 Detection of Ambiguous Genitalia on Prenatal Ultrasound 11 Current use of Genetic testing in determining a specific diagnosis 13 The Importance of Prenatal Diagnosis in Cases of Ambiguous Genitalia 18 Significance for genetic counselors 19 Conclusions 20 Methodology 22 Systematic Review of the Literature 22 Chart Review 27 Algorithm & Analysis 29 Results 31 Analysis 52 Discussion 55 Appendix I: First Review Matrix Organization and summary of literature review articles 62 Appendix II: Second Review Matrix Organization and summary of case studies from the literature review 78 Appendix III: Third Review Matrix Organization and summary of chart review cases 94 References 102 !3 LIST OF TABLES ! !Table 1: Keyword Combinations for Literature Search 22 !Table 2: Example First Review Matrix 25 !Table 3: Example Second Review Matrix 25 !Table 4: Protocol Key 26 !Table 5: Example Third Review Matrix 29 Table 6: Imaging characteristics to differentiate cloacal exstrophy, bladder !exstrophy and cloacal malformation (Calvo-Garcia et al. 2013) 40 !Table 7: All Literature Review Protocols 44 !Table 8: Confidence Intervals 46 !Table 9: All Chart Review Protocols 48 Table 10: Cases from chart review for example application of proposed algorithm 52 !4 ! ! ! ! LIST OF FIGURES Figure 1: Flow chart of pre and postnatal diagnosis made !in each case reviewed by Cheikhelard et al. (2000) 12 Figure 2: Algorithm for the diagnostic work-up of a !fetus with ambiguous genitalia (Pajkt, Petersen & Chitty, 2008) 14 Figure 3: Algorithm for the diagnostic work-up of a !fetus with ambiguous genitalia (Chitty et al. 2012) 15 Figure 4: Flow chart summarizing review of literature !and identification of articles relevant to the current study 31 Figure 5: Flow chart summary of chart review and !identification of cases relevant to the current study 47 Figure 6: Algorithmic recommendations from synthesis of the literature 51 !5 ! ! ! ACKNOWLEDGEMENTS! Larisa Baumanis, LGC Noam Lazebnik, MD Anne Matthews, PhD Aditi Parikh, MD Sara Debanne, PhD Elizabeth Ruzga, CNM, DNP Rebecca Darrah, PhD University Hospitals Medical Records Department ! ! !6 ! ! Efficacy of Genetic Testing in Cases of Ambiguous Genitalia Detected on Prenatal Ultrasound! ! Abstract! ! By EVELYN ROSE! CRAWFORD This study assessed the accuracy of genetic testing in identifying a diagnosis prenatally for ambiguous genitalia through a systematic review of published case studies and cases of prenatally suspected ambiguous genitalia identified from University Hospitals Case Medical Center (UHCMC) ultrasound database. A total of 28 articles (2006-2014) met inclusion criteria. The UHCMC chart review yielded 39 cases from 2006 to 2014. Cases analyzed from the literature demonstrated that regardless of which protocol was used, a prenatal etiological diagnosis of ambiguous genitalia was correctly diagnosed in 60% of cases. From these data, an algorithmic testing guideline was generated. Cases from the chart review that had prenatal and postnatal records were used to assess the efficiency of the proposed algorithm of identifying the correct etiological diagnosis and was successful in 10 of 15 cases (66.6%), with 5 cases being unclear as to whether a diagnosis could be reached using the proposed algorithm. ! !7 ! INTRODUCTION Genetic testing along with ultrasound imaging can aid clinicians in determining a specific diagnosis in cases of prenatally identified ambiguous genitalia. However, because the range of available genetic tests has grown rapidly, it is unclear how to apply current genetic testing strategies in these cases. Literature on the topic of ambiguous genitalia diagnosed prenatally can be difficult to interpret when these cases are presented as single, isolated case studies and because the definition of ambiguous genitalia varies. In this study, ambiguous genitalia are defined as external genitalia that are undifferentiated or indistinct. The incidence of ambiguous genitalia is estimated to be 1 in 50,000 to 1 in 70,000 individuals (Abu- Rustum & Chaaban 2009). In the majority of pregnancies, ultrasound technology and maternal serum screening are the primary tools used to screen for fetal abnormalities. Despite the impressive detail of current ultrasound technology, the images produced may not provide enough information to reach an etiological diagnosis, defined as the nature or cause, of the ambiguous genitalia. Thus, the information from genetic testing, along with the images produced by ultrasound, offers important information that can aid in the diagnosis. Pajkrt et al. (2009) and Chitty et al. (2012) have published algorithmic guidelines based on retrospective chart reviews for the effective application of genetic testing in cases of prenatal ambiguous genitalia. However, these algorithms may not be widely applicable within the United States because they are based on research conducted in the !8 Netherlands where the use of genetic tests such as cell free fetal DNA (cffDNA) have different European standards of use. Adam et al. (2012), conducted a retrospective chart review in the United States, resulting in recommendations including use of a multidisciplinary team, detailed ultrasound anatomy scan and karyotype for the management of all cases of prenatally identified ambiguous genitalia. Adam and colleagues (2012) offer valuable information about the use of genetic testing in the prenatal management of ambiguous genitalia, but their study is only representative of one hospital’s data and no statistical interpretation of testing strategies was included in their analysis. Rather than presenting an algorithm for testing, the authors presented a written analysis of the “pros and cons” of the testing approaches that they used, such as ultrasound, karyotype and targeted testing for single gene disorders. An algorithm for effectively utilizing genetic testing in cases of prenatally detected ambiguous genitalia that may be more applicable within the United States has yet to be presented. This study draws on published case studies as well as unpublished cases of prenatally suspected ambiguous genitalia from the MacDonald Women’s Hospital, University Hospitals Case Medical Center ultrasound database to present widely applicable recommendations for genetic testing as an algorithm that can be used in the management of prenatally identified ambiguous genitalia and evaluates the success of the algorithm using real-life cases. ! !9 PURPOSE OF STUDY The purpose of this descriptive study is to conduct a systematic review of the literature and chart review regarding the accuracy of genetic testing in identifying a specific diagnosis for prenatally suspected ambiguous genitalia and, based on this review, propose an algorithm that can be used in the management of prenatally suspected ambiguous genitalia. SPECIFIC AIMS 1. Organize and centralize the current published data regarding ambiguous genitalia identified on ultrasound, testing performed in these cases, and outcome information through a systematic review of the literature. 2. Identify cases of suspected ambiguous genitalia from the prenatal ultrasound database at MacDonald Women’s Hospital, University Hospitals Case Medical Center (UHCMC) and review patient data, testing performed, and outcome information, if possible, from medical charts. 3. Compare and assess consistency in data across the published literature and UHCMC chart review data identified in Aims 1 and 2. 4. Propose an algorithm for testing based on analysis of data in aim 3. 5. Validate the ability of the algorithm to reach a diagnosis using cases identified in aim 2. !10 BACKGROUND !Detection of Ambiguous Genitalia on Prenatal Ultrasound While maternal serum screening along with ultrasound offers risk assessment for chromosome abnormalities, ultrasound is the sole screening technique for identifying physical defects for the majority of pregnancies. Ultrasound has been proven to be a reliable and accurate method for noninvasive prenatal gender assignment in pregnancies without abnormalities. However, ultrasound does not appear to be as reliable in detecting the presence of ambiguous genitalia. Cheikhelard et al. (2000) conducted the only study with the specific purpose of assessing the accuracy and clinical implications of the prenatal diagnosis of abnormal genitalia. Of the 53 cases reviewed, 10 cases presented with abnormal genitalia at birth with no prenatal indication of an abnormality. The remaining 43 cases had a prenatal indication of abnormal genitalia; however 9/43 (20.9%) of these cases appeared normal at birth. Thirty-four
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