Prenatal Diagnosis for Pediatricians

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.

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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

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.

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