Prenatal Screening and Diagnosis, An Issue of Clinics in Laboratory Medicine

David A. Krantz, Anthony O. Odibo

Description

This issue of Clinics in Laboratory Medicine, Guest Edited by Anthony Odibo and David Krantz, will feature article topics such as: Screening for Chromosomal abnormalities; Cystic fibrosis screening; The role of second-trimester screening, in the post-first trimester screening era; Modifying risk for Aneuploidy with second-trimester ultrasound after a positive serum screen; Cost-effectiveness of Down syndrome screening paradigms; Biochemical and biophysical screening for the risk of Preterm delivery; Pre-implantation genetic diagnosis; Prenatal testing for infectious disease, Thrombophilias, Preeclampsia, Neural Tube Defects; Management of Multiple Pregnancy; Genetic Counseling Issues in Down syndrome Screening; First Trimester Ultrasound Markers; Quality Control of Nuchal Translucency; Clinical Implications of First Trimester Screening; Adverse Pregnancy Outcomes after Positive Screening; First Trimester Combined Screening: Instant Risks Approach.

Sujets

• Medical
• Médecine
• Pathology

Informations

• Publié par: Saunders
• Date de parution: 11 août 2010
• Nombre de lectures: 0
• EAN13: 9781455700394
• Langue: English
• Poids de l'ouvrage: 1 Mo

Extrait

Clinics in Laboratory Medicine , Vol. 30, No. 3, September 2010
ISSN: 0272-2712
doi: 10.1016/S0272-2712(10)00104-6

Contributors
Clinics in Laboratory Medicine
Prenatal Screening and Diagnosis
Anthony O. Odibo
Division of Maternal Fetal Medicine and Ultrasound, Department of Obstetrics and Gynecology, Fetal Care Center, Washington University Medical Center, 660 South Euclid, St Louis, MO 63110, USA
David A. Krantz
Biostatistics Department, NTD Labs/PerkinElmer, 80 Ruland Road, Melville, NY 11747, USA
ISSN  0272-2712
Volume 30 • Number 3 • September 2010

Contents
Cover
Contributors
Forthcoming issues
Preface
Preimplantation Genetic Testing: Indications and Controversies
An Update on Cystic Fibrosis Screening
An Overview of First-Trimester Screening for Chromosomal Abnormalities
First-Trimester Genetic Counseling: Perspectives and Considerations
First-Trimester Screening for Chromosomal Abnormalities: Advantages of an Instant Results Approach
Additional First-Trimester Ultrasound Markers
Monitoring Quality Control of Nuchal Translucency
Clinical Implications of First-Trimester Screening
Adverse Pregnancy Outcomes After Abnormal First-Trimester Screening for Aneuploidy
Cost-Effectiveness of Down Syndrome Screening Paradigms
Screening and Testing in Multiples
Noninvasive Prenatal Diagnosis: 2010
The Role of Second-Trimester Serum Screening in the Post–First-Trimester Screening Era
Modifying Risk for Aneuploidy with Second-Trimester Ultrasound After a Positive Serum Screen
Biophysical and Biochemical Screening for the Risk of Preterm Labor
Toxoplasmosis, Parvovirus, and Cytomegalovirus in Pregnancy
Screening for Open Neural Tube Defects
First- and Second-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction
Prenatal Screening for Thrombophilias: Indications and Controversies
Index
Clinics in Laboratory Medicine , Vol. 30, No. 3, September 2010
ISSN: 0272-2712
doi: 10.1016/S0272-2712(10)00106-X

Forthcoming issues
Clinics in Laboratory Medicine , Vol. 30, No. 3, September 2010
ISSN: 0272-2712
doi: 10.1016/j.cll.2010.04.017

Preface
Prenatal Screening and Diagnosis

Anthony O. Odibo, MD, MSCE
Division of Maternal Fetal Medicine and Ultrasound, Department of Obstetrics and Gynecology, Fetal Care Center, Washington University Medical Center, 660 South Euclid, St Louis, MO 63110, USA Decision and Economic Analysis in Reproduction and Women's Health Group, USA
E-mail address: [e-mail]
E-mail address: [e-mail]

David A. Krantz, MA ,
Biostatistics Department NTD Labs/PerkinElmer, 80 Ruland Road, Melville, NY 11747, USA
E-mail address: [e-mail]
E-mail address: [e-mail]


Anthony O. Odibo, MD, MSCE Guest Editor

David A. Krantz, MA Guest Editor
It has been an honor to serve as guest editors for this special edition of Clinics in Laboratory Medicine , entitled Prenatal Screening and Diagnosis. The last issue devoted to prenatal testing was in June 2003. Since that time, a lot of development has occurred in the arena of prenatal testing, particularly with the development of new screening paradigms for Down syndrome. This edition may seem to have more articles dedicated to aneuploidy screening compared with prior editions. The reason for this is the proliferation of new screening strategies in the past 5 years and the struggle among clinicians to adopt what is best for their population.
As editors, we have made an attempt to avoid overlap in the articles submitted. Some degree of overlap is, however, inevitable in the articles devoted to aneuploidy screening. Dr Bahado-Singh begins by giving an overview of first-trimester screening. Others, such as Dr Egan and colleagues, review the impact of first-trimester screening on second-trimester screening for aneuploidy, whereas Campbell and colleagues provide an update on genetic sonogram. Drs Caughey and Odibo then review the economic considerations of the various aneuploidy screening paradigms. A review of aneuploidy screening would not be complete without an article on neural tube defects screening from which aneuploidy screening was derived. Such an article is provided by Krantz and colleagues.
Among the articles on aneuploidy, several relate to first-trimester screening with free β–human chorionic gonadotropin, pregnancy-associated plasma protein A, and nuchal translucency. Drs Sonek and Nicolaides focus on the addition of new ultrasound markers in the first trimester to improve screening performance. Although many studies have reported detection rates of 90% with first-trimester screening, Dr Cuckle focuses on the important issue of maintaining quality control of nuchal translucency measurements to maintain these high detection rates when nuchal translucency assessment is pushed into widespread clinical practice. Dr Chasen's article discusses the clinical implications of first-trimester screening, including the impact of early screening on the rate of invasive prenatal diagnosis, the gestational age of prenatal diagnosis and termination, as well as the side benefit of earlier prenatal diagnosis of certain major structural abnormalities. Dr Norton's article reviews the benefits of an instant results approach to first-trimester screening in which biochemistry is performed before ultrasound and, therefore, the final risk result is available at the conclusion of the ultrasound examination. Such an approach can improve screening performance in addition to the added clinical benefit of being able to communicate with patients at the conclusion of an ultrasound examination. Dr Pergament writes about the important role of genetic counseling in first-trimester screening given the general population's understanding of risk. Dr Goetzl's article discusses the adverse implications of extreme first-trimester aneuploidy markers when aneuploidy has been ruled out.
Drs Evans and Andiole discuss multiple pregnancy, which has a lower performance of serum screening protocols as compared with singleton pregnancies. The complexity of the invasive diagnostic procedures and the risk of loss of an unaffected twin due to the sequelae of the invasive procedures.
Although screening for cystic fibrosis is now a routine part of prenatal care, Drs Cahill and Goetzinger discuss the challenging aspects of offering such screening, especially as it relates to certain racial groups and populations. Another vexing area in prenatal testing is that of screening for thrombophilias, and Rampersad and Carbone provide a comprehensive review of the subject. Another medical disorder that has received a lot of screening attention is preeclampsia. Most of the focus is now on early detection and the first trimester provides a window for early screening. Tuuli and Odibo cover this area.
The use of ultrasound and biochemical methods to screen for preterm birth is now mainstream in prenatal care. Wax and colleagues performed a detailed review of the literature and provide an evidence-based summary of the subject. This is followed by a detailed review of the role of preimplantation genetic diagnosis by Jungheim and Cooper.
There has been a lot published in recent years about screening and treating infectious diseases, such as cytomegalovirus, during pregnancy. Borgida and colleagues performed a detailed review of this subject with particular emphasis on toxoplasmosis and cytomegalovirus.
Dr Evans provides an article on noninvasive prenatal diagnosis, a technology with huge potential. Unfortunately, the large number of technical approaches that have been used is testimony to the fact that none of them has been particularly successful.
Clinics in Laboratory Medicine , Vol. 30, No. 3, September 2010
ISSN: 0272-2712
doi: 10.1016/j.cll.2010.04.008

Preimplantation Genetic Testing: Indications and Controversies

Amber R. Cooper, MD, MSCI * , Emily S. Jungheim, MD, MSCI,
Division of Reproductive Endocrinology and Infertility, Barnes-Jewish Hospital, Washington University School of Medicine, 4444 Forest Park Parkway, Suite 3100, St Louis, MO 63108, USA
* Corresponding author.
E-mail address: [e-mail]

Abstract
In the last two decades, the use of preimplantation genetic testing has increased dramatically. This testing is used for identifying singlegene disorders, chromosomal abnormalities, mitochondrial disorders, gender selection in non-mendelian disorders with unequal gender distribution, aneuploidy screening, and other preconceptually identified genetic abnormalities in prospective parents. Genetic testing strategies and diagnostic accuracy continues to improve, but not without risks or controversies. In this review the authors discuss the techniques and clinical application of preimplantation genetic diagnosis, and the debate surrounding its associated uncertainty and expanded use.

Keywords
• Preimplantation genetic testing • Preimplantation genetic diagnosis • Preimplantation genetic screening • Embryo research • Embryo biopsy • In vitro fertilization
Clinically applicable preimplantation genetic testing was first brought to fruition in 1990, when it was announced that 2 women at risk for transmitting recessive X-linked diseases were pregnant with female fetuses as the result of in vitro fertilization (IVF) followed by embryo biopsy and sexing by polymerase chain reaction (PCR) for the Y ch