Tài liệu Prenatal diagnosis and screening for down syndrome - Edited by Subrata Dey

PRENATAL DIAGNOSIS AND SCREENING FOR DOWN SYNDROME
Edited by Subrata Dey

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
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 coordination
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