Prenatal Diagnosis for Pediatricians
Descrição do Produto
Committee
on Genetics
Prenatal
Diagnosis
for Pediatricians
This statement is for the pediatrician who may be called on to care for the child with a birth defect ofMendelian or multifactorial origin-namely all
Antenatal diagnosis of other clinical by fetal blood sampling, fetoscopy, and raphy (ultrasound) is under investigation,
pediatricians!
procedures
The
involved
family
may
know and probability
may benefit statements
from about
facts about knowledge
the fetus. and choice
Many families better than chance.
Antenatal
(prenatal) largely those
disease,
methods recurrent
detection of genetic
an accepted part of medical child, where resources permit on the subject are available,’3 stitute of Child Health and Consensus Development flects a prevailing familiarity ogy
in
the
United
pediatrician
has
families
at
risk
indications
and
for
the
availability
in clinical
when
to
recognize
parents
about
the
of antenatal
intrauterine follows: 1.
age
diag-
is to inform of antenatal family coun-
under
the
by
amniocentesis
in either
are
sex
where
linked specific
there
condition intrauterine
2.
Inborn
niotic
fluid
Neural 4. Certain
( c ) chromosomal
aberration; parent;
as
errors
anom-
(d) determination of fetal is a probability that a serious Xand
may
be manifest diagnosis is not
of metabolism
or cultured
amniotic
and for feasible.
detectable
fluid
tube defects. hemoglobinopathies.
ably in the amniocentesis,
which in am-
cells.
use. RISKS
amniocentesis
for
OF
16th
week. to define
centers yields
with the the required 95%
of the will
Echosonography fetal maturity
at competent Amniocentesis
requisite amount time;
be
fetal
should and
recommended. when done
technical and quality
cytogenetic
successful
on
condibe perprefer-
preceding and the po-
sition of the placenta, is strongly The initial attempt at amniocentesis,
and 99%
at
experience, of fluid and biochemical
of this
material
centers. is
and fetus. is virtually
studies Britain for for
in wide
in the midtrimester to 20 weeks of pregnancy,
occurs after ently modest. the abortion
Cytogenetic problems: (a) advanced maternal (35 years or above); ( b) previous offspring with
aly
yet
CONSIDERATIONS:
tions detectable formed prior
mother injury
proper
is a safe method accepted indications
monitoring
chromosomal
3.
performed
and guidelines,’3 diagnosis. The
not
AMNIOCENTESIS
analyses
practice.
Amniocentesis,
TECHNICAL
cells
modern
INDICATIONS
conditions antenatal
are
Transabdominal
the
nosis. The purpose of this statement pediatricians about the present status diagnosis as it relates to genetic and seling
find
report4 renew technol-
responsibility
advise
and
will
care for mother and it. Excellent reviews and a National InHuman Development
Accordingly,
a new
to
convert risks into
of certain forms of origin, has become
Conference with the
States.
wish
that
conditions echosonogbut these
not
without
Although nonexistent,
some
risk
significant abortion
the procedure, but the There are unexplained rates quoted for various
for
maternal sometimes risk is appardifferences in collaborative
in the United States, Canada and Great where amniocenteses are performed in large
numbers by gional centers,
a relatively few, the additional
skified teams. risk for abortion
At reafter
transabdominal amniocentesis apparently is not greater than 0.5%. Cosmetic or more severe injury to the surviving fetus is extremely rare. However, the degree of risk for isoimmunization in the appropriate circumstance
is stifi
consensus globulin NEW
uncertain;
regarding (Rhogam)
accordingly,
there
routine use with amniocentesis.
of
Rh
is
no
immune
TECHNOLOGY
Fetal
blood
sampling
under
direct
visualization
diagnosis of hemoglobinopathies, in general, remains in the developmental stage, although large numbers of patients have already been monitored.
by fetoscopy has been feasible for several years. However, the application of this technology in the antenatal diagnosis of such conditions as thalassemia and sickle cell disease is stifi under evaluation. The risk for abortion after midtrimester fetoscopy
The pediatrician available tests.)
and than
should
consult
(The
the
local
antenatal
center
for
fetal the
blood natural
PEDIATRICS
sampling is at least risk. The risk for
Vol. 65 No. 6 June
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about 5% higher premature deliv-
1980
1185
ery
of a surviving
infant
complications The analysis hemoglobinopathies established detection
art at other
of
or the
is unknown. of fetal has
occurrence
blood samples risen to become
selected disorders
centers; such
as
of other
the
to detect a fine and however, hemophilia,
the
same
meets
current
is under
fects
fetus by methods,
Diagnosis
of
be
and
of significance
future time at present-and
feasible
with
screening for AFP screening nancies
mass
program
neural tube on amniotic
defects fluid
Joe to For
(vs preg-
SUMMARY
applied
should be diagnosis
to specific
diagnosis,
and
1186
PRENATAL
problems
management
familiar with the princiand how they should be in genetic in clinical
counseling, practice.
MD MD
Oakley,
Leigh
Chairman
MD MD
Simpson,
MD
Consultant
Barton
Childs,
MD
of
at risk).
Pediatricians ples of antenatal
MD, MD MD
Representatives F. Manley,
Godfrey
(AFP)
in populations from specific
with
GENETICS
L. Nadler,
Liaison Audrey
some
play an essential and in detection
of a-fetoprotein
ON
Mamunes,
Henry de-
at
is largely as an adjunct screening and diagnosis.
example, echosonography must role in the dating of pregnancy in any
birth
be familiar
standards.
Peter
each of these methods. However, particularly for echosonography-
the use of these methods other forms of prenatal
twins
certain
should
Charles R. Scriver, Murray Feingold, Neil A. Holtzman,
echosonography, and fetoscopy
evaluation.
may
pediatricians
COMMITTEE
chronic granulomatous disease, and Duchenne muscular dystrophy is still either in the experimental stage or not recommended on the basis of current experience. Visualization of the various roentgenographic
time,
the resources for the new technology available to them in their region, and they should assure themselves that the performance of antenatal diagnosis
At
REFERENCES 1. NICHD National Registry for Amniocentesis Study Group. Midtrimester amniocentesis for prenatal diagnosis: Safety and accuracy. JAMA 236:1471, 1976 2. Simpson NE, Dallaire L, Miller JR, et al: Prenatal diagnosis of genetic disease in Canada: Report of a collaborative study. Can Med Assoc J 115:739, 1976 3. Report to the Medical Research Council by their Working Party on Amniocentesis: An assessment of the hazards of amniocentesis. Br Obstet Gynaecol (Suppl 2): 85, 1978 4. Antenatal Diagnosis. NIH Publication No. 79-1973, Bethesda, MD, National Institutes of Health, 1979 5. Miles JH, Kaback MM: Prenatal diagnosis of hereditary disorders. Pediatr Clin North Am 25:593, 1978
DIAGNOSIS
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Prenatal Diagnosis for Pediatricians Charles R. Scriver, Murray Feingold, Neil A. Holtzman, Peter Mamunes, Henry L. Nadler, Audrey F. Manley, Godfrey Oakley, Joe Leigh Simpson and Barton Childs Pediatrics 1980;65;1185 Updated Information & Services
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PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright © 1980 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.
Downloaded from by guest on November 7, 2016
Prenatal Diagnosis for Pediatricians Charles R. Scriver, Murray Feingold, Neil A. Holtzman, Peter Mamunes, Henry L. Nadler, Audrey F. Manley, Godfrey Oakley, Joe Leigh Simpson and Barton Childs Pediatrics 1980;65;1185
The online version of this article, along with updated information and services, is located on the World Wide Web at: /content/65/6/1185
PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright © 1980 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.
Downloaded from by guest on November 7, 2016
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