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Perinatal Genetics

Perinatal Genetics Book
Author : Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
Publisher : Elsevier Health Sciences
Release : 2019-01-23
ISBN : 0323530966
Language : En, Es, Fr & De

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Book Description :

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.

Perinatal Genetics

Perinatal Genetics Book
Author : Ian H. Porter,Norma H. Hatcher,Ann M. Willey
Publisher : Elsevier
Release : 2013-09-03
ISBN : 1483264483
Language : En, Es, Fr & De

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Book Description :

Perinatal Genetics: Diagnosis and Treatment brings together the proceedings of the 15 Annual New York State Health Department Birth Defects Symposium held on September 30-October 1, 1984 in Albany, New York. The symposium provided a forum for clarifying and rationalizing certain aspects of diagnosis and treatment of perinatal genetic birth defects such as fragile X syndrome, phenylketonuria, and hypothyroidism. Comprised of 17 chapters, this book begins with an epidemiological review of very early pregnancy loss, focusing on fertilization and implantation; the probability of loss between fertilization and implantation (on about the sixth day), and between implantation and the 14th day (the first day of the expected next period in a non-pregnant woman); and the contribution of chromosomal errors in the sperm, ovum, and zygote to early reproductive loss. The reader is then introduced to cytogenetic abnormalities in spontaneous abortions of recognized conceptions; repetitive spontaneous abortion; and prenatal genetic diagnosis by chorionic villus sampling. Subsequent chapters explore prenatal treatment of biochemical disorders; in vitro fertilization and embryo transfer; and moral issues concerning third trimester pregnancy terminations. This monograph will appeal to perinatologists, neonatologists, obstetricians, pediatricians, and geneticists and should also serve as a useful guide for health professionals who provide care to pregnant women and their newborns.

Prenatal Genetic Counseling

Prenatal Genetic Counseling Book
Author : Sam Riedijk,Karin E.M. Diderich
Publisher : Academic Press
Release : 2021-10-20
ISBN : 0128233311
Language : En, Es, Fr & De

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Book Description :

Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT; invasive testing with microarray analysis or whole genome sequencing; ultrasound screening; and prenatal diagnosis for known hereditary conditions, among others. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning. Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students. Covers use and psychological implications of technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis; exome sequencing; whole genome sequencing; and ultrasound screening and addresses diversity in prenatal genetic counseling Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ counseling experiences

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling Book
Author : Amber Mathiesen,Kali Roy
Publisher : Oxford University Press
Release : 2018-04-30
ISBN : 0190881046
Language : En, Es, Fr & De

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Book Description :

An essential new text for genetic counseling's most sought-after skills Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: · the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management · preimplantation and prenatal genetic screening and diagnosis · the structure and goals of a genetic counseling appointment · common clinical scenarios and best-practice approaches Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.

Human Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics Book
Author : Peter C. K. Leung,Jie Qiao
Publisher : Academic Press
Release : 2018-08-28
ISBN : 0128135719
Language : En, Es, Fr & De

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Book Description :

Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization and implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics based approaches

Born Well Prenatal Genetics and the Future of Having Children

Born Well  Prenatal Genetics and the Future of Having Children Book
Author : Megan A. Allyse,Marsha Michie
Publisher : Springer
Release : 2021-11-25
ISBN : 9783030825355
Language : En, Es, Fr & De

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Book Description :

This book brings together an international collection of experts in reproductive ethics, law, disability studies, and medicine to explore the challenging future of reproduction and children. From the medical to the social and from the financial to the legal, the authors explore the expanding impact of reproductive genetics on our society. New advances in genetic technologies are revolutionizing the practice of reproductive medicine. We have expanded our ability to detect genetic changes in embryos and fetuses in ways that potentially allow to identify, treat, or prevent a growing range of diseases. The development of gene-editing technologies raises questions about the possibility of removing disease-causing variants from embryos before pregnancy implantation. The growing sophistication of prenatal genomic sequencing offers us glimpses into the whole genome of the developing fetus. And, the increasingly sophisticated science of 'gene matching' allows us greater and greater foreknowledge of how the genomes of two individuals will combine in a future child. This is an indispensable book on the newest developments in bioethics caused by the sciences. Chapter 5 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus Book
Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
Release : 2012-12-06
ISBN : 1468451553
Language : En, Es, Fr & De

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Book Description :

About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.

Gender and Genetics

Gender and Genetics Book
Author : Kate Reed
Publisher : Routledge
Release : 2012
ISBN : 0415554969
Language : En, Es, Fr & De

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Book Description :

Prenatal screening for genetic disorders is becoming an increasingly widespread phenomenon across the globe. While studies have highlighted the importance of women’s experiences of such screening, little is known about men’s roles and direct involvement in this process. With a focus on the experiences of both women and men, this text offers an innovative and passionate account of the gendered nature of prenatal screening. Drawing on interview data with pregnant women and their male partners in a UK city, Reed provides a compelling analysis of maternal and paternal roles in prenatal screening. Through this analysis, the book raises important issues around genetics, gender and screening practice. With a focus on the gendered production of ‘good’ and ‘bad’ genes, the book explores differences between visual technologies and blood screening. It also explores the gendered nature of genetic responsibility and the impact this has on parenting roles. Extending its arguments into other key debates in prenatal genetics – including a focus on the impact of screening on other types of stratification, including ethnicity and class – Reed provides an original and comprehensive analysis of some of the most pressing concerns in the field to date. This book will be of interest to students and scholars of the sociology of health and illness, science and technology studies, gender studies, feminist bioethics and medical anthropology, as well as professionals in the fields of midwifery and genetic counselling.

Understanding Genetics

Understanding Genetics Book
Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
Publisher : Lulu.com
Release : 2009
ISBN : 0982162219
Language : En, Es, Fr & De

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Book Description :

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Biomarkers of Postpartum Psychiatric Disorders

Biomarkers of Postpartum Psychiatric Disorders Book
Author : Jennifer L. Payne,Lauren M. Osborne
Publisher : Academic Press
Release : 2019-09-28
ISBN : 0128158360
Language : En, Es, Fr & De

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Book Description :

Biomarkers of Postpartum Psychiatric Disorders provides an up-to-date reference on the current research relating to biomarkers in psychiatric disorders, including major depressive disorder, OCD and bipolar disorder in the immediate postpartum time-period. It is the only reference on the market that synthesizes and interprets available data and reviews clinical phenotypes. Topics cover hormonal contributions, immunology, epigenetics and neuroimaging. While the risk of psychiatric illness during pregnancy appears to be equivalent to the risk at any other time in a woman’s life, the risk in the immediate postpartum time period is dramatically increased, hence the importance of the discussions in this title. Identifies epigenetic, hormonal, immunological and neuroimaging biomarkers Provides biomarkers for depression, OCD and psychosis Includes clinical phenotypes for psychiatric disorders Discusses future research and directions in the field

Fetal Cardiology

Fetal Cardiology Book
Author : Simcha Yagel,Norman H. Silverman,Ulrich Gembruch
Publisher : CRC Press
Release : 2018-09-03
ISBN : 0429865732
Language : En, Es, Fr & De

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Book Description :

The third edition of this established reference is the product of the combined efforts of many professionals – obstetricians, pediatric cardiologists, sonographers, molecular biologists, and medical physicists – and is a comprehensive guide intended for anyone interested in scanning the fetal cardiac system.

Prenatal Testing and Disability Rights

Prenatal Testing and Disability Rights Book
Author : Erik Parens,Adrienne Asch
Publisher : Georgetown University Press
Release : 2000-09-28
ISBN : 9781589013940
Language : En, Es, Fr & De

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Book Description :

As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care—it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities. In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.

Perinatal Stem Cells

Perinatal Stem Cells Book
Author : Anthony Atala,Kyle J. Cetrulo,Rouzbeh R. Taghizadeh,Curtis L Cetrulo,Sean Murphy
Publisher : Academic Press
Release : 2018-06-14
ISBN : 0128120630
Language : En, Es, Fr & De

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Book Description :

Perinatal Stem Cells provides researchers and clinicians with a comprehensive description of the current clinical and pre-clinical applications of stem cells derived from perinatal sources, such as amniotic fluid, placenta and placental membranes, the umbilical cord and Wharton’s jelly. It's compiled by leading experts in the field, offering readers detailed insights into sources of perinatal stem cells and their potential for disease treatment. Therapeutic applications of perinatal stem cells include the treatment of in utero and pregnancy related diseases, cardiac disease, liver disease, pulmonary disease, inflammatory diseases, for hematopoietic regeneration, and for neural protection after stroke or traumatic brain injury. In addition, the rapid advance in clinical translation and commercialization of perinatal stem cell therapies is highlighted in a section on Clinical and Industry Perspective which provides insight into the new opportunities and challenges involved in this novel and exciting industry. Explores current clinical and pre-clinical application of stem cells derived from perinatal sources Offers detailed insight into sources of perinatal stem cells and their potential for disease treatment Discusses progress in the manufacturing, banking and clinical translation of perinatal stem cells Edited by a world-renowned team to present a complete story of the development and promise of perinatal stem cells

Perinatology

Perinatology Book
Author : Renato Augusto Moreira de Sá
Publisher : Springer Nature
Release : 2022-07-07
ISBN : 3030834344
Language : En, Es, Fr & De

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Book Description :

Download Perinatology book written by Renato Augusto Moreira de Sá, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

A Handbook of Clinical Genetics

A Handbook of Clinical Genetics Book
Author : J. S. Fitzsimmons
Publisher : Butterworth-Heinemann
Release : 2013-10-22
ISBN : 1483140989
Language : En, Es, Fr & De

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Book Description :

A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.

The Health Effects of Cannabis and Cannabinoids

The Health Effects of Cannabis and Cannabinoids Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Population Health and Public Health Practice,Committee on the Health Effects of Marijuana: An Evidence Review and Research Agenda
Publisher : National Academies Press
Release : 2017-03-31
ISBN : 0309453070
Language : En, Es, Fr & De

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Book Description :

Significant changes have taken place in the policy landscape surrounding cannabis legalization, production, and use. During the past 20 years, 25 states and the District of Columbia have legalized cannabis and/or cannabidiol (a component of cannabis) for medical conditions or retail sales at the state level and 4 states have legalized both the medical and recreational use of cannabis. These landmark changes in policy have impacted cannabis use patterns and perceived levels of risk. However, despite this changing landscape, evidence regarding the short- and long-term health effects of cannabis use remains elusive. While a myriad of studies have examined cannabis use in all its various forms, often these research conclusions are not appropriately synthesized, translated for, or communicated to policy makers, health care providers, state health officials, or other stakeholders who have been charged with influencing and enacting policies, procedures, and laws related to cannabis use. Unlike other controlled substances such as alcohol or tobacco, no accepted standards for safe use or appropriate dose are available to help guide individuals as they make choices regarding the issues of if, when, where, and how to use cannabis safely and, in regard to therapeutic uses, effectively. Shifting public sentiment, conflicting and impeded scientific research, and legislative battles have fueled the debate about what, if any, harms or benefits can be attributed to the use of cannabis or its derivatives, and this lack of aggregated knowledge has broad public health implications. The Health Effects of Cannabis and Cannabinoids provides a comprehensive review of scientific evidence related to the health effects and potential therapeutic benefits of cannabis. This report provides a research agendaâ€"outlining gaps in current knowledge and opportunities for providing additional insight into these issuesâ€"that summarizes and prioritizes pressing research needs.

Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling Book
Author : Amber Mathiesen,Kali Roy
Publisher : Oxford University Press
Release : 2018
ISBN : 0190681098
Language : En, Es, Fr & De

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Book Description :

An essential new text for genetic counseling's most sought-after skills Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: - the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management - preimplantation and prenatal genetic screening and diagnosis - the structure and goals of a genetic counseling appointment - common clinical scenarios and best-practice approaches Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.

Born Well Prenatal Genetics and the Future of Having Children

Born Well  Prenatal Genetics and the Future of Having Children Book
Author : Megan A. Allyse,Marsha Michie
Publisher : Springer Nature
Release : 2021-12-29
ISBN : 3030825361
Language : En, Es, Fr & De

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Book Description :

This book brings together an international collection of experts in reproductive ethics, law, disability studies, and medicine to explore the challenging future of reproduction and children. From the medical to the social and from the financial to the legal, the authors explore the expanding impact of reproductive genetics on our society. New advances in genetic technologies are revolutionizing the practice of reproductive medicine. We have expanded our ability to detect genetic changes in embryos and fetuses in ways that potentially allow to identify, treat, or prevent a growing range of diseases. The development of gene-editing technologies raises questions about the possibility of removing disease-causing variants from embryos before pregnancy implantation. The growing sophistication of prenatal genomic sequencing offers us glimpses into the whole genome of the developing fetus. And, the increasingly sophisticated science of 'gene matching' allows us greater and greater foreknowledge of how the genomes of two individuals will combine in a future child. This is an indispensable book on the newest developments in bioethics caused by the sciences. Chapter 5 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Fetal and Perinatal Skeletal Dysplasias

Fetal and Perinatal Skeletal Dysplasias Book
Author : Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Michelle Fink,Deborah Krakow
Publisher : CRC Press
Release : 2012-09-30
ISBN : 131534629X
Language : En, Es, Fr & De

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Book Description :

Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined conditions, affecting bone and cartilage growth and development. The genetic mutations continue to exert their influence throughout the life of the affected individual. This unique, full colour atlas features 132 conditions with 2300 images of over 500 patients. It brings together the wide-ranging clinical disciplines involved in pre and postnatal care and diagnosis and presents perinatal images of rare skeletal disorders to include skeletal dysplasias and malformation syndromes on a case-by-case basis. It presents the most up-to-date information on the individual conditions to include the mode of inheritance (autosomal dominant or recessive, or non-genetic), the Mendelian Inheritance in Man number (MIM) for further reference reading, the locus (the chromosome number and position on the affected chromosome), the mutated gene and the affected protein. Each condition has a brief summary including synonyms, incidence, genetics, age at presentation, clinical, prenatal ultrasound and postnatal radiological features, bone histology, prognosis and differential diagnosis. Images are presented with each case illustrating different imaging modalities and with gross and/or histopathology findings. Brief clinical findings are also given where available. It is of great value to all clinicians and technicians working in fetal medicine and neonatal care. It greatly assists in diagnostic accuracy and provides clinicians and affected families with the information needed to make informed management decisions.

Prenatal Stress and Child Development

Prenatal Stress and Child Development Book
Author : Ashley Wazana,Eszter Székely,Tim F. Oberlander
Publisher : Springer Nature
Release : 2021-04-19
ISBN : 3030601595
Language : En, Es, Fr & De

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Book Description :

This book examines the complex impact of prenatal stress and the mechanism of its transmission on children’s development and well-being, including prenatal programming, epigenetics, infl ammatory processes, and the brain-gut microbiome. It analyzes current findings on prenatal stressors affecting pregnancy, including preconception stress, prenatal maternal depression, anxiety, and pregnancy-specific anxieties. Chapters explore how prenatal stress affects cognitive, affective, behavioral, and neurobiological development in children while pinpointing core processes of adaptation, resilience, and interventions that may reduce negative behaviors and promote optimal outcomes in children. Th is complex perspective on mechanisms by which early environmental influences interact with prenatal programming of susceptibility aims to inform clinical strategies and future research targeting prenatal stress and its cyclical impact on subsequent generations. Key areas of coverage include: The developmental effects of prenatal maternal stress on children. Epigenetic effects of prenatal stress. Intergenerational transmission of parental early life stress. The microbiome-gut-brain axis and the effects of prenatal stress on early neurodevelopment. The effect of prenatal stress on parenting. Gestational stress and resilience. Prenatal stress and children’s sleeping behavior. Prenatal, perinatal, and population-based interventions to prevent psychopathology. Prenatal Stress and Child Development is an essential resource for researchers, professors and graduate students as well as clinicians, therapists, and related professionals in infancy and early childhood development, maternal and child health, developmental psychology, pediatrics, social work, child and adolescent psychiatry, developmental neuroscience, and related behavioral and social sciences and medical disciplines. Excerpt from the foreword: “I would make the plea that in addition to anyone with an interest in child development, this book should be essential reading for researchers pursuing “pre-clinical, basic science models of neurodevelopment and brain health”.... This book provides what in my mind is the most advanced compilation of existing knowledge and state-of-the-art science in the field of prenatal psychiatry/psychology (and perhaps in the entire field of prenatal medicine). This volume can brilliantly serve to focus future directions in our understanding of the perinatal determinants of brain health.” Michael J Meaney James McGill Professor of Medicine Translational Neuroscience Programme Adjunct Professor of Paediatrics