PRENATAL DIAGNOSIS AND SCREENING FOR DOWN SYNDROME Edited by Subrata Dey Prenatal Diagnosis and Screening for Down Syndrome Edited by Subrata Dey Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2011 InTech All chapters are Open Access articles distributed under the Creative Commons Non Commercial Share Alike Attribution 3.0 license, which permits to copy, distribute, transmit, and adapt the work in any medium, so long as the original work is properly cited. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. Statements and opinions expressed in the chapters are these of the individual contributors and not necessarily those of the editors or publisher. No responsibility is accepted for the accuracy of information contained in the published articles. The publisher assumes no responsibility for any damage or injury to persons or property arising out of the use of any materials, instructions, methods or ideas contained in the book. Publishing Process Manager Romina Krebel Technical Editor Teodora Smiljanic Cover Designer Jan Hyrat Image Copyright Richard A. Abplanalp, 2010. Used under license from Shutterstock.com First published August, 2011 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Prenatal Diagnosis and Screening for Down Syndrome, Edited by Subrata Dey p. cm. ISBN 978-953-307-355-2 free online editions of InTech Books and Journals can be found at www.intechopen.com Contents Preface IX Part 1 Behavior and Learning 1 Chapter 1 Imitation as an Element of Social Interaction of Children with Down Syndrome at School 3 Patrícia Páfaro Gomes Anhão, Luzia Iara Pfeifer and Jair Lício Ferreira Santos Chapter 2 Adaptive and Behavioral Development in Children with Down Syndrome at School Age with Special Emphasis on Attention Deficit Hyperactivity Disorder (ADHD) 17 Asher Ornoy, Tanya Rihtman and Shula Parush Chapter 3 Motor Behavior in Down Syndrome: Atypical Sensoriomotor Control 33 Regiane Luz Carvalho and Délcia Adami Vasconcelos Part 2 Dentistry and Skeletal Features 43 Chapter 4 Skeletal Age of Down Syndrome Individuals 45 Mari Eli Leonelli de Moraes and Luiz Cesar de Moraes Chapter 5 Oral Health in Individuals with Down Syndrome 59 Ronald H.W. Cheng, Cynthia K.Y. Yiu and W. Keung Leung Part 3 Neoplastic Disease 77 Chapter 6 Infections and Acute Leukemia in Children with Down Syndrome 79 Juan Manuel Mejía-Aranguré, María Luisa Pérez-Saldivar, Janet Flores-Lujano, Carolina Bekker Méndez, Sandra Pinto-Cardoso, David Aldebarán Duarte-Rodríguez and Arturo Fajardo-Gutiérrez VI Contents Chapter 7 Unique Myeloid Leukemias in Young Children with Down Syndrome: Cell Origin, Association with Hematopoietic Microenvironment and Leukemogenesis 107 Jun Miyauchi Part 4 Prenatal Diagnosis and Genetic Counselling 129 Chapter 8 Innovations in Down Syndrome Screening 131 Wendy Koster, Annemieke de Vries, Gerard Visser and Peter Schielen Chapter 9 Early Diagnosis of Congenital Heart Disease in the Neonatal Period 149 Alfonso Ortigado Chapter 10 Down Syndrome in Nigeria Sub Saharan Africa 165 Olufemi Adebari Oloyede Chapter 11 Non Invasive Prenatal Diagnosis of Down Syndrome 177 Dimitra Kappou, Eleftheria Papadopoulou and Stavros Sifakis Chapter 12 Prenatal Examinations for Down Syndrome and Possible Effects on Maternal-Fetal Attachment 191 Susanne Georgsson Öhman Chapter 13 Gender Affects Clinical Suspicion of Down Syndrome 203 Natalia V. Kovaleva Chapter 14 Down Syndrome Screening in Pregnancies Conceived after Assisted Reproductive Technologies 217 Maarit Sahraravand and Markku Ryynanen Preface This book features up-to-date, well referenced research and review articles on Down syndrome. It provides a concise yet comprehensive source of current information on behaviour and learning, orthopaedic features, congenital heart disease and acute lymphoblastic leukemia in individuals with Down syndrome. Development of multimedia softwares and artificial intelligence techniques plays an important role in the learning process of Down syndrome. Attention has been focussed on the present status of research on prenatal diagnosis of Down syndrome with the subsequent option of termination of pregnancy. Down syndrome has been and continues to be a central focus of prenatal testing technology due to its high frequency of live births. Over the last three decades, prenatal screening for Down syndrome and other chromosomal abnormalities has become a routine practice during antenatal care. Prenatal diagnosis of Down syndrome has changed from second to first trimester because of the higher detection rate and earlier diagnosis. While it is never easy for a couple to decide to pursue prenatal diagnosis, because of the possibility of subsequently having to consider termination of pregnancy, this is an option which is chosen by many couples at high risk of having a child with a serious hereditary disorder. Moreover, the ethical issues surrounding prenatal diagnosis and selective termination of pregnancy are both complex and emotive. Prenatal diagnosis can be carried out by both invasive and non invasive methods. The most common indication for prenatal diagnosis for Down syndrome is advanced maternal age. This book will be useful not only for research workers and medical practitioners, but will also be an important reference for the management of Down syndrome. This book consists of four sections. All sections include chapters on recent advances in Down syndrome research. Section I describes the behaviour and learning aspects of Down syndrome. People with intellectual disability require education to help them resist abuse. Individuals with Down syndrome can live full, productive and quality lives with help from modern medicine, multimedia technology and lifetime educational/support programs. X Preface Section II deals with dental and orthopaedic features of a child with Down syndrome. Dental problems are very common in Down syndrome with an incidence about five times greater than that of normal child. Skeletal development has also been assessed in individuals with Down syndrome. Section III describes the incidence of Acute lymphoblastic leukemia in Down syndrome child. Compared to children without this syndrome, there is ten to twenty fold higher risk of developing acute leukemia in Down syndrome. Section IV presents both invasive and noninvasive methods of prenatal diagnosis. Recent advances in the detection of cell free fetal DNA in maternal circulation, Down syndrome screening after assisted reproduction techniques have been reviewed. All the Articles are very interesting and provide an up-to-date knowledge on recent progress in the area of prenatal diagnosis in Down syndrome. Acknowledgements The editor wants to acknowledge the superb assistance of staff members and management of Intech Publisher. In particular, Ms. Romina Krebel for her co- ordination and editorial assistance. We are also grateful to all contributing authors and scientists who made this book possible by providing valuable research and review articles. Subrata Dey Salt Lake City, Kolkata [...]... norm-referenced and standardized parent/caregiver interview measuring personal and social skills and intended for use in populations from birth to 18 11/12 years Standard scores are measured (in normative populations, M=100 and SD=15) Reliability has 20 Prenatal Diagnosis and Screening for Down Syndrome been demonstrated using internal consistency (split half means for Domains 91 to 95; for Adaptive Behavior... standard score (r=-0.38) and the daily living skills standard score (r=-0.37) but not for the socialization skills standard score Pearson Coefficient correlations between the VABS and teacher report total ADHD Rating Scale score revealed no significant correlations (Table 3) 24 Prenatal Diagnosis and Screening for Down Syndrome Measure Informant Group Mean(SD) . PRENATAL DIAGNOSIS AND SCREENING FOR DOWN SYNDROME Edited by Subrata Dey Prenatal Diagnosis and Screening for Down Syndrome Edited by Subrata. last three decades, prenatal screening for Down syndrome and other chromosomal abnormalities has become a routine practice during antenatal care. Prenatal diagnosis of Down syndrome has changed. the child (with Prenatal Diagnosis and Screening for Down Syndrome 8 DS and with typical development) observed the teacher’s action, his/her way to gesture or speak, and reproduced it