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The state of health care isreflected by perinatal and neonatal
morbidity and mortality as weIl as by the frequencies of long-term
neurological and developmental disorders. Many factors, some
without immediately recognizable significance to childbearing and
many still unknown, undoubtedly contribute beneficially or
adversely to the outcome of pregnancy. Knowledge concerning the
impact of such factors on the fetus and survivinginfant iscritical.
Confounding analysesofpregnancy outcome, especially these past 2 or
3 decades, are the effects of newly undertaken invasive or inactive
therapeutic approaches coupled with the advent of high technology.
Many innovations have been introduced without serious efforts to
evaluate their impact prospectively and objectively. The
consequences of therapeutic misadventures character ized the past;
it seems they have been replaced to a degree by some of the
complications of applied technology. Examples abound: after overuse
of oxygen was recognized to cause retrolental fibroplasia, its
restriction led to an increase in both neonatal death rates and
neurologic damage in surviving infants. Administration of vitamin K
to prevent neonatal hemorrhagic disease, particularly when given in
what we now know as excessive dosage, occasionally resulted in
kernicterus. Prophy lactic sulfonamide use had a similar end
result. More recent is the observation of bronchopulmonary
dysplasia as a complication of re spirator therapy for hyaline
membrane disease. The decade of the eighties opened with the
all-time highest rate of cesarean section in the United States.
The state of health care is reflected by perinatal and neonatal
morbidity and mortality as well as by the frequencies of long-term
neurological and developmental disorders. Many factors, some
without immediately recognizable significance to childbearing and
many still unknown, undoubtedly contribute beneficially or
adversely to the outcome of pregnancy. Knowledge concerning the
impact of such factors on the fetus and surviving infant is
critical. Confounding analyses of pregnancy outcome, especially
these past 2 or 3 decades, are the effects of newly undertaken
invasive or inactive therapeutic approaches coupled with the advent
of high technology. Many innovations have been introduced without
serious efforts to evaluate their impact prospectively and
objectively. The consequences of therapeutic misadventures
character ized the past; it seems they have been replaced to a
degree by some of the complications of applied technology. Examples
abound: after overuse of oxygen was recognized to cause retrolental
fibroplasia, its restriction led to an increase in both neonatal
death rates and neurologic damage in surviving infants.
Administration of vitamin K to prevent neonatal hemorrhagic
disease, particularly when given in what we now know as excessive
dosage, occasionally resulted in kernicterus. Prophy lactic
sulfonamide use had a similar end result. More recent is the
observation of bronchopulmonary dysplasia as a complication of re
spirator therapy for hyaline membrane disease. The decade of the
eighties opened with the all-time highest rate of cesarean section
in the United States.
The state of health care is reflected by perinatal and neonatal
morbidity and mortality as well as by the frequencies of long-term
neurological and developmental disorders. Many factors, some
without immediately recognizable significance to childbearing and
many still unknown, undoubtedly contribute beneficially or
adversely to the outcome of pregnancy. Knowledge concerning the
impact of such factors on the fetus and surviving infant is
critical. Confounding analyses of pregnancy outcome, especially
these past 2 or 3 decades, are the effects of newly undertaken
invasive or inactive therapeutic approaches coupled with the advent
of high technology. Many innovations have been introduced without
serious efforts to evaluate their impact prospectively and
objectively. The consequences of therapeutic misadventures
character ized the past; it seems they have been replaced to a
degree by some of the complications of applied technology. Examples
abound: after overuse of oxygen was recognized to cause retrolental
fibroplasia, its restriction led to an increase in both neonatal
death rates and neurologic damage in surviving infants.
Administration of vitamin K to prevent neonatal hemorrhagic
disease, particularly when given in what we now know as excessive
dosage, occasionally resulted in kernicterus. Prophy lactic
sulfonamide use had a similar end result. More recent is the
observation of bronchopulmonary dysplasia as a complication of re
spirator therapy for hyaline membrane disease. The decade of the
eighties opened with the all-time highest rate of cesarean section
in the United States."
The state of health care is reflected by perinatal and neonatal
morbidity and mortality as well as by the frequencies of long-term
neurologic and developmental disorders. Many factors, some"without
immediately recognizable significance to childbearing and many
still unknown, undoubtedly contribute beneficially or adversely to
the outcome of pregnancy. Knowledge concerning the impact of such
factors on the fetus and surviving infant is critical. Confounding
analyses of pregnancy outcome, especially these past two or three
decades, are the effects of newly undertaken invasive or inactive
therapeutic approaches coupled with the advent of high technology.
Many innovations have been intro duced without serious efforts to
evaluate their impact prospectively and objectively. The
consequences of therapeutic misadventures character ized the past;
it seems they have been replaced to a degree by some of the
complications of applied technology. Examples abound: after ov
eruse of oxygen was recognized to cause retrolental fibroplasia,
its restriction led to an increase in both neonatal death rates and
neurologic damage in surviving infants. Administration of vitamin K
to prevent neonatal hemorrhagic disease, particularly when given in
what we now know as excessive dosage, occasionally resulted in
kernicterus. Prophy lactic sulfonamide use had a similar end
result. More recent is the observation of bronchopulmonary
dysplasia as a complication of re spirator therapy for hyaline
membrane disease. The decade of the eighties opened with the
all-time highest rate of cesarean section in the United States."
It was the best of times, it was the worst of times, it was the age
of wisdom, it was the age of foolishness, it was the epoch of
belief, it was the epoch of incredulity, ... it was the spring of
hope, it was the winter of despair. . . . -Charles Dickens, A Tale
of Two Cities Dickens, of course, did not have the contemporary
dilemmas of modern genetics in mind. Indeed, we need to remind
ourselves how short the history of modern genetics really is.
Recognition that genetic traits are carried by deoxyribonucleic
acid (DNA) occurred only about 40 years ago. Knowledge of the
three-dimensional structure of DNA is only about 30 years old. The
correct number of human chromosomes was not deter mined until the
mid-1950s, and Down syndrome was recognized only in 1959. It was
not until in 1968 that the exact location of a gene was determined
on an autosomal chromo some, and the study of genes, rather than
their protein products, has been possible for barely a decade."
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."
Technological advances continue to expand the number of genetic
disorders that can be diagnosed in utero. Utilization of this new
technology has de manded special expertise available in relatively
few academic centers. As these new applications have become more
widespread so have the realities of the medicolegal implications.
Notwithstanding the laboratory challenges, most legal action, at
least in the United States, has arisen from the physician's failure
to inform a patient about the risks of a genetic disorder or the
oppor tunities presented by prenatal diagnosis. Hence an extensive
thorough reex amination of the subject seems appropriate and
timely. The steady escalation in the number of prenatal genetic
studies now being done in the western world makes it imperative for
the physician to have a thorough comprehension of the subject in
its entirety. I am, therefore, fortu nate in having colleagues who
as acknowledged experts have shared their knowledge and experience
in order to make this volume a major critical repository of facts
and guidance about prenatal genetic diagnosis. The subject matter
ranges from a consideration of required genetic counseling through
the intricacies of establishing prenatal diagnoses. Special
attention is focused on new advances using ultrasound,
a-fetoprotein, fetoscopy, and first trimester diagnosis. Both
ethical and legal implications are discussed in detail, as is the
development of public policy."
The state of health care is reflected by perinatal and neonatal
morbidity and mortality as well as by the frequencies of long-term
neurologic and developmental disorders. Many factors, some without
immediately rec ognizable significance to childbearing and many
still unknown, undoubt edly contribute beneficially or adversely to
the outcome of pregnancy. Knowledge concerning the impact of such
factors on the fetus and sur viving infant is critical. Confounding
analyses of pregnancy outcome, especially these past two or three
decades, are the effects of newly un dertaken invasive or inactive
therapeutic approaches coupled with the advent of high technology.
Many innovations have been introduced with out serious efforts to
evaluate their impact prospectively and objectively. The
consequences of therapeutic misadventures characterized the past;
it seems they have been replaced to a degree by some of the
complications of applied technology. Examples abound: after overuse
of oxygen was recognized to cause retrolental fibroplasia, its
restriction led to an in crease in both neonatal death rates and
neurologic damage in surviving infants. Administration of vitamin K
to prevent neonatal hemorrhagic disease, particularly when given in
what we now know as excessive dos age, occasionally resulted in
kernicterus. Prophylactic sulfonamide use had a similar end result.
More recent is the observation of bronchopul monary dysplasia as a
complication of respirator therapy for hyaline membrane disease."
For over 20 years I have accepted the challenge and had the
privilege of caring for sick children, agonizing with their parents
during periods of serious illness, which were sometimes fatal.
Because of my particular interest in and concern about birth
defects and genetic disease, many of these children had severe
disabling handicaps, which were often genetic and included mental
retardation. Hence care of these children and their families was
often complicated by the presence of serious or profound genetic
defects. The initial realization of the nature of the disorder
invariably led to emotional . difficulties and inevitably later
spawned chronic distress. For some children inexorable
deterioration led to untimely deaths, while the parents agonized
over their handi capped, chronically ill, or defective-but
nevertheless loved---"
New advances in genetics have dramatically expanded our ability to
avoid, prevent, diagnose, and treat a wide range of disorders. Now,
more than ever, families need to know about these new discoveries,
especially as there are some 7,000 rare genetic diseases that
afflict about 1 in 12 of us. In Your Genes, Your Health, Aubrey
Milunsky provides an invaluable and authoritative guide to what you
should know about your genes. Illustrated with poignant family
histories that underscore the lifesaving importance of knowing
one's family medical history and ethnic origin, the book highlights
the importance of recognizing seemingly unrelated disorders in a
family as due to the same gene mutation and it outlines the key
genetic tests needed for diagnosis, detection of carriers, and
prenatal diagnosis. Many genetic disorders are discussed including
cancer, heart disease, autism, mental illness, birth defects,
neurologic disorders, diabetes, obesity and much more. The message
of this book is clear--know your family history, be cognizant of
your ethnic origins, seek appropriate consultations, and opt for
meaningful genetic tests. Recognition of your risk(s) enables
prompt preemptive action. By knowing your genes, you may save your
life and the lives of those you love.
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