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FOREWORD

 “The neonate is no longer our youngest patient.” This sentence was a major breakthrough just a couple of decades ago. Recently even embryo is no longer our youngest patient, but in the age of preimplantation diagnosis blastomeres are our youngest patients.
The International Society for Prenatal Diagnosis organized the 12th International Conference on Prenatal Diagnosis and Therapy in 2004 June in Budapest (Hungary). The mission of this conference was to advance the art and science of all aspects of prenatal genetic diagnosis. This let us to get a deeper view of the newest results and methods of prenatal diagnosis.
In the past decades society’s expectations from medicine have been considerably extended. The recent explosion-like progress in genetic research has made people believe that now every hereditary disease can be screened in time and prevented, that is, the birth of an affected child can be avoided with absolute certainty. The requirement of living up to this expectation the more comprehensively has led to establishing and launching genetic counselling centres that have become an integral part of the maternity care system. Fortunately nowadays we have several different possibilities to offer for the couples asking for help.
Prenatal diagnosis recently contains several multidisciplinary topic. In the age of assisted reproduction preimplantation diagnosis going to be more and more frequently used procedure. To eliminate the risk and side effects of invasive prenatal diagnosis examining fetal cells and nucleic acids in maternal circulation could be a favorable choice. Considering the development in fetal imaging we should collect an affluent database to use it for screening and diagnosis. Chromosome and DNA diagnosis, biochemical prenatal screening, fetal therapy and ethical and psychosocial issues are also important parts of this developing field of medicine.
We are delighted to edit this book as a most authoritative exposition in this important branch of medicine. This book supplies the knowledge of modern prenatal diagnosis in an admirably succinct manner to the professionals in this field.

Zoltán Papp and Charles Rodeck
 

INDEX

Preimplantation Genetic Diagnosis (PGD) Versus Traditional Prenatal Diagnosis (PND): Choosing the Optimal Approach
J.L. Simpson

Microarrays for Analysis and Diagnosis of Human Embryos
D. Wells, M. Bermudez, N. Steuerwald, L. Chu, U. Weier, J. Cohen and S. Munne

A Controlled Study for Gender Selection Using Swim-up Separation
M. Khatamee, S.R. Horn, A. Weseley, T. Farooq, S.B. Jaffe and R. Jewelewicz

Cell-free Fetal DNA in Maternal Blood: Molecular Structure and Enrichment
F. Bischoff

Recent Developments in the Biology and Diagnostic Applications of Fetal Nucleic Acids in Maternal Plasma
Y.M.D. Lo

Detection of Chromosome 21-encoded mRNA of Placental origin in Maternal Plasma
C. Oudejans, A. Go, A. Visser, M. Mulders, M. Blankenstein and J. van Vugt

The Presence of Maternal DNA in Peripherial Blood of Newborn Infants
L. Lázár, Z. Bán, Á. Harmath and Z. Papp

Prenatal Detection of Hb Bart’s Disease in Maternal Blood
E.T. Lau, Y.K. Kwok, D.H.K. Chui, H.Y. Luo, K.Y. Leung, C.P. Lee, Y.H. Lam and M.H.Y. Tang

Sex Determination by the Detection of SRY Region with Real Time PCR in Maternal Plasma
L. Lázár, Z. Bán, B. Nagy, A. Beke, J. Rigó and Z. Papp

Early Doppler Ultrasound Screening and NRBC Count in Prediction of PET/IUGR
A. Mavrou, A. Kolialexi, A. Souka, A. Pilalis,
Y. Kavalakis, P. Antsaklis, E. Kanavakis and A. Antsaklis

Our First Steps in Detecting Fetal Cells in the Maternal Circulation for Prenatal Diagnosis
Gy.R. Nagy, Z. Bán, F. Sipos, J. Oroszné Nagy,
A. Beke and Z. Papp

Prenatal Diagnosis of the Haemoglobin Disorders – 20 Years Experience
J. Old

The Sooner We Know…
E. Pergament, A. Fiddler and M. Fiddler

Prenatal Ultrasound Screening of Most Common Hereditary Disorders in Low-risk Pregnant Women Population
F. Stipoljev, J. Sertić and A. Kurjak

Late First Trimester (11-14 wks) Invasive Prenatal Diagnosis
J. Philip, R.K. Silver, R.D. Wilson, E.A. Thom, J.M. Zachary, P. Mohide, M.J. Mahoney, J.L. Simpson, L.D. Platt, E. Pergament, D. Hershey, K. Filkins, A. Johnson,
L.P. Shulman, J. Bang, S. MacGregor, J.R. Smith, D. Shaw, R.J. Wapner, L.G. Jackson

The Impact of First-trimester Screening on the Rate of Invasive Testing in Women ł35
S. Chasen

Soft Markers for Aneuploidy in Second Trimester of Pregnancy 101
A. Antsaklis 1

Ultrasound Minor and Major Anomalies Detected in Fetuses with Aneuploidies in Second Trimester
A. Beke, J.G. Joó, A. Csaba, Cs. Papp, E. Tóth-Pál, Z. Bán, Z. Belics, T. Fekete, E. Barakonyi and Z. Papp

Prenatal Sonographic Measurement of the Fetal Iliac Angle During the Second Trimester of the Pregnancy
Z. Belics, L. Csabay, I. Szabó, A. Beke, T. Fekete, A. Halmos and Z. Papp

Acceptability of First and Second Trimester Screening for Fetal Down’s Syndrome – Interim Results from a Demonstration Trial
C.P. Lee, M. Tang, R. Tang, H.Y. Tse, H. Woo, W.K. To, S.F. Wong, K. Wong and Y.H. Lam

Can Rapid Aneuploidy Screening (RAS) Replace Traditional Karyotyping for Women with Amniocenteses Performed for Advanced Maternal Age?
W.C. Leung, E.T. Lau and M.H.Y. Tang

PAPP-A / proMBP Complex in Prenatal Screening of Severe Fetal Disorders and Postnatal Detection of Acute Coronary Disease
M. Macek, P. Hájek, H. Cuckle, B. Houbová, Š. Vilímová, P. Potuzníková, M. Simandlová, M. Havlovicová, R. Vlk, I. Špálová, E. Kulovaný, J. Diblík and M. Hladíková

Recurrent Trisomy 21 and Uniparental Disomy 21: A Report on a Family
J. Oroszné Nagy, Z. Bán, Gy.R. Nagy, L. Lázár and Z. Papp

Cytogenetics and Pathology in the Evaluation of Spontaneous Abortion
M. Mar Pérez, V. Cusí, A. Aguayo, T. Zabala and A. Vela

First Trimester Screening for Down Syndrome in Private Practice Combining Biochemical Markers and Nuchal Translucency Measurements. Results of 11,000 Consecutive Pregnancies
G. Pescia, P-J. Ditesheim, Ch. Faway, H. Nguyen The, D. Schmid, C. Orgeira and P.-A. Brioschi

Maternal Uniparental Disomy of Chromosome 16 in a Case of Spontaneous Abortion
K. Suzumori, Y. Kondo, S. Tsukishiro, M. Tanemura,
M. Sugiura-Ogasawara and S. Sonta

Cytogenetic Investigation of Fetuses Conceived Throught Intracytoplasmatic Sperm Injection
Z. Szigeti, E. Tóth-Pál, C. Papp, A. Beke, J. Joó, Z. Bán, G. Mezei and Z. Papp 153
The Use of Amniocentesis and QF-PCR Techniques for Rapid karyotype Diagnosis in Late Second Trimester and Third Trimester to Replace Cordocentesis
W.W.K. To, A.M.Y. Chan and K.M. Mok

Cystic Periventricular Leucoencephalomalacia in the Preterm Infant
B. Pertl, M. Eder, C. Fast, B. Resch, U. Maurer,
B. Urlesberger and J. Haas

How Painful Is Amniocentesis?
Á. Csaba, Cs. Papp, Z. Bán, J.G. Joó, L. Lázár and Z. Papp

Perinatal Outcomes Regarding to the Risk Factors and the Efficacy of the Treatment of Diabetes
Z. Garamvölgyi, J. Rigó Jr., I. Krasznai, J. Hidvégi and Z. Papp

Congenital Heart Diseases in Twin Pregnancies
J. Hajdu, A. Beke, T. Marton, E. Hruby, B. Pete and Z. Papp

Congenital Diaphragmatic Hernia: Changing the Patients’ Admission to Genetic Counselling on the Basis of 24 Years Data
Á. Harmath and Z. Papp

Twin Pregnancies Complicated By Intrauterine Death of One Co-twin: Maternal Risks of Expectant Management
E. Hruby 183
Prenatal Diagnosis and Characteristics of Holoprosencephaly
G.J. Joó, A. Beke, Cs. Papp, E. Tóth-Pál, Zs. Szigeti, Z. Bán and Z. Papp

Hereditary Long QT Syndrome in Pregnancy. Antenatal and Intrapartum Management Options
A. Antsaklis, I. Katsoulis, I. Papageorgiou and N. Papantoniou

Fetal Consequences of Opiate Use in Pregnancy
Z. Kovacs and J. Rigo Jr

Androgens as Markers of Preeclampsia
I. Krasznai, Gy. Szendei, Z. Garamvölgyi, T. Bőze,
N. Dévényi and J. Rigó Jr.

Diagnosis and Treatment of Haemodinamically Significant Fetal Tachycardia – Review of 33 Cases
B. Pete, J. Hajdú and Z. Papp

Placental Origin of the Extreme Elevation of Maternal Serum ALP Levels
N.G. Than, A. Boronkai, R. Magenheim, B. Hargitai, P. Deres, Sz. Bellyei, A. Szigeti, J. Rigó Jr., B. Sumegi and Z. Papp

Behavioral Development and Fetal Habituation in Human Fetuses
K. Fukushima, S. Morokuma and H. Nakano

The Change in Public Demand for Genetic Counseling
Z. Papp