PRENATAL DIAGNOSIS – MORPHOLOGY SCAN AND INVASIVE METHODS Edited by Richard Kwong Wai Choy and Tak Yeung Leung Prenatal Diagnosis – Morphology Scan and Invasive Methods Edited by Richard Kwong Wai Choy and Tak Yeung Leung Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2012 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. 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. 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Publishing Process Manager Bojan Rafaj Technical Editor Teodora Smiljanic Cover Designer InTech Design Team First published June, 2012 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechopen.com Prenatal Diagnosis – Morphology Scan and Invasive Methods, Edited by Richard Kwong Wai Choy and Tak Yeung Leung p. cm. ISBN 978-953-51-0614-2 Contents Preface IX Chapter 1 Invasive Prenatal Diagnosis 1 Sonja Pop-Trajković, Vladimir Antić and Vesna Kopitović Chapter 2 Prenatal Diagnosis of Severe Perinatal (Lethal) Hypophosphatasia 27 Atsushi Watanabe, Hideo Orimo, Toshiyuki Takeshita and Takashi Shimada Chapter 3 Skeletal Dysplasias of the Human Fetus: Postmortem Diagnosis 33 Anastasia Konstantinidou Chapter 4 Prenatal Sonographic Diagnosis and Evaluation of Isolated Macrodactyly 59 Hande Yağmur, Atıl Yüksel and Hülya Kayserili Chapter 5 Prenatal Evaluation of Fetuses Presenting with Short Femurs 71 Funda Gungor Ugurlucan, Hülya Kayserili and Atil Yuksel Chapter 6 Normal and Abnormal Fetal Face 85 Israel Goldstein and Zeev Wiener Chapter 7 Current Issues Regarding Prenatal Diagnosis of Inborn Errors of Cholesterol Biosynthesis 111 Maria Luís Cardoso, Mafalda Barbosa, Ana Maria Fortuna and Franklim Marques Chapter 8 Understanding Prenatal Iodine Deficiency 137 Inés Velasco, Federico Soriguer and P. Pere Berbel Chapter 9 Real-Time Quantitative PCR for Detection Cell Free Fetal DNA 163 Tuba Gunel, Hayri Ermis and Kilic Aydinli VI Contents Chapter 10 The Experiences of Prenatal Diagnosis in China 171 Shangzhi Huang Chapter 11 Fetal Therapy: Where Do We Stand 193 Sebastian Illanes and Javier Caradeux Preface As new technological innovations arise, clinical medicine must also adapt and assimilate these advances into clinical practice. Prenatal diagnosis is no exception. When amniocentesis was introduced into practice, study of the unbanded chromosomes was the standard. With the introduction of G-banded analysis, duplications, deletions, and gross chromosomal translocations were detectable. By comparing the phenotypic to the genotypic findings, most of the detected chromosomal aberrations were quickly found to be clinically relevant. Integrating this new information into patient care and counseling required years of data gathering and analysis. As clinical and molecular technologies continued to evolve, similar questions concerning the appropriate clinical use of these technologies in prenatal diagnosis have also arisen. Prenatal Diagnosis: Morphology Scan and Invasive Methods brings together distinguished contributors with extensive experience in the fetal ultrasound and prenatal diagnosis fields. Emphasis has been paid to the inclusion of molecular and sonographic techniques used in fetal medicine that are relevant to obstetricians and scientists performing prenatal diagnosis. These include how to diagnose iodine deficiency, skeletal dysplasisa; methods for molecular diagnosis of fetal diseases and treatment by fetal therapy. We hope that this book will be an invaluable reference for obstetricians and scientists in the process of prenatal diagnosis. Richard Kwong Wai Choy and Tak Yeung Leung The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China [...]... neoplasm 20 Prenatal Diagnosis – Morphology Scan and Invasive Methods 6 Conclusion More than 40-year history of invasive procedures has seen a rise and than a fall in the degree of invasiveness of the procedures The decades of invasive diagnostic procedures have given us a unique opportunity to study the fetus They have contributed to our understanding of human fetal physiology, metabolism, and disease... obstetrics and gynaecology,Dewbury,KC,Meire,HB.pp.557-606.London:Churchill Livingstone,2001 Valente, P.; Sever, JL.(1994) In utero diagnosis of congenital infections by direct fetal sampling Isr J Med Sci ,vol.30, No.10,(October1994),pp.414 26 Prenatal Diagnosis – Morphology Scan and Invasive Methods Von Dadelszen,P.;Sermer,M.; Hillier,J.(2005).A randomized controlled trial of biopsy forceps and cannula... likely, the more technically demanding aspects of sampling, CVS has still not replaced amniocentesis in many centers 2.1 Timing and technique CVS is usually performed between 10 and 12 weeks of pregnancy The risk and severity of limb deficiency appear to be associated with the timing of CVS: the risk before the end of 10 2 Prenatal Diagnosis – Morphology Scan and Invasive Methods weeks gestation is higher... congenital infections such as rubella, toxoplasmosis, cytomegalovirus and parvovirus can also be detected by CVS CVS in multiple pregnancies require more experience, ability and an accurate planning of the procedure The procedure is not complicated in cases with clearly separated placentas 4 Prenatal Diagnosis – Morphology Scan and Invasive Methods but it becomes a challenge in cases of fused or joined placentas,... pregnancies should be performed by using one or two needle insertions remains to be shown A single needle insertion could reduce the abortion risk, but may on the other hand create the problems of amniotic band syndrome or a monoamniotic twin pregnancy, or give rise to cytogenetic problems (Millaire et al.,2006) 10 Prenatal Diagnosis – Morphology Scan and Invasive Methods 3.2 Indications Since the... amniocentesis is fetal loss Two types of loss should be considered: (1) total pregnancy loss rate postprocedure, which includes both background 12 Prenatal Diagnosis – Morphology Scan and Invasive Methods pregnancy loss for that gestational age and procedure-related loss, and (2) procedure related pregnancy loss The total post-amniocentesis loss rates are derived from studies of populations of pregnant women... difference (amniocentesis; no amniocentesis) is a clear outlier within these controlled study groups and reflects that this 14 Prenatal Diagnosis – Morphology Scan and Invasive Methods study’s method of analysis underestimated the procedure-related pregnancy loss rate following mid-trimester amniocentesis by excluding the terminated pregnancies in the amniocentesis group, resulting in a lower intrinsic... and chorion) until 15 weeks’ gestation creates an additional technical difficulty Only the amniotic (inner) sac should be aspirated, because the outer sac does not contain sufficient numbers of living fetal cells It has been reported that there is a culture failure ranging from o,5-2,5% The karyotyping success rate may be increased by using filter 16 Prenatal Diagnosis – Morphology Scan and Invasive Methods. .. transabdominal CVS may be the only approach available 6 Prenatal Diagnosis – Morphology Scan and Invasive Methods Transabdominal sampling, in our experience, has definitely become the method of choice, and our preference for this approach is based on the shorter learning time, the lower rate of immediate complications, the higher practicality and success rates at the first device insertion, the lower... 2005), pp.200 1–2 011 Finegan ,AK.; Sitarenios, G.; Bolan, PL.(1996).Children whose mothers had second trimester amniocentesis: follow-up at school age Br J Obstet Gynaecol ,Vol.103,No.3, (March 1996),pp.214-218 22 Prenatal Diagnosis – Morphology Scan and Invasive Methods Finegan, AK.; Quarrington, BJ.; Hughes, HE.(2000) Child outcome following mid-trimester amniocentesis: Development, behavior and physical . PRENATAL DIAGNOSIS – MORPHOLOGY SCAN AND INVASIVE METHODS Edited by Richard Kwong Wai Choy and Tak Yeung Leung Prenatal Diagnosis. orders@intechopen.com Prenatal Diagnosis – Morphology Scan and Invasive Methods, Edited by Richard Kwong Wai Choy and Tak Yeung Leung p. cm. ISBN 978-953-51-0614-2