Chapter 8

Advances in Maternal
and Child Health
Looking Back
Advances in maternal and child health have been one
of the g rea test public health aclllcvemen ts of the 20th
ccmury. According to the U.S. Department of Labor and
the National Center for Health Statistics, in the ea rly
1900s about one in 10 infants died before his/her first
birthday. I3 ctween 1915 and 1997, this figure fell by more
than 90 percent. Maternal mortality rates have also experi-
enced a significant decline, from :lpproxim;Hdy 850 de:lths
per 100,000 live births in 1900 to only 7.7 deaths per
100,000 live births in 1997. Although improvements in
medical care were the main force behind these declines in
infant :lnd maternal monality, public health interventions
also played an important role. These include environmental
interventions, improvements in nutrition and living stan-
dards, better surveilla nce and monitoring of disease and
higher educa tion levels.

Maternal Mortality Rates

Matern:ll deaths arc defined as those that OCCll r during
a pregnancy o r within 42 days of the end of a pregnancy
and for which the calise of death IS listed as a complicat ion
of pregnancy, chi ldbirth or the puerperium. In 1900, one
alit of eve ry 100 pregnant women died. Maternal death
rates were highest from 1900 to 1930, ca used mainly by
home deliveries performed eithe r by midwives or general
practitioners with poor obstetric ed ucation who knew little
abOIlt aseptic techniques. [n fact, sepsis acco unted for 40
percent of th e deaths, one half ;after vaginal deliveries :lnd
one half after illegally induced abortions. The remaining
deaths were due to hemorrhage alld high blood pressure.
Within this period. sOllle 916 dcaths were due to thc flu
epidemic of 1918. Another C:luse of maternal deaths can
be linked to COIll11l0n medical pr:acticc ill the 19205,
which included excessive sllrgic:al and obstetric interven-
tion~ stich as induction of labor, forceps, episiotomy and
cesarean deliveries. For example, Dr.J.13. De l ee of Chicago
published an account of his "prophylactic forceps opera-
tion" in which full anesthesia, delivery by forceps and man-
ual removal of placenta was routine for all women, except
those who evaded his plan by having a quick and sponta-
neous delivery. Following such examples, obstetric ians with
insufficient skills undertook difficult surgical procedures,
often with fatal results.

After 1933, maternal mort:tlity rates started to decrease.

During t hat year, the R eport on the White House Con -
fe rence on Child Health Protection, Fetal, Newborn, and
Materna l Mortality and Morbidity demonstrated a connee-
tioll between poor aseptic practices, excessive operative

EI/:lll1or Raosl've/1 ill Ihe While Norlse OIl Cllild Nfl/fIll Oily.

deliveries and high maternal mortality. During the 19305

and 1940s, the government developed guidelines defining
physical qualifications needed fo r hospital del ivery privi-
leges. These policies we re aimed to have an accredited
specialist obstetr ician deliver every b:tby in a hospital.
As a result, a shift frOI11 home to hospital deliveries
occurred between 1938 and 1948, and the proportion of
infants born in hospitals increased fro m 55 pe rce nt to 90
perce nt. T he shift from home to hosp ital delive ries and
imp rovemen ts in aseptic cond itions in hospitals led to a
71 pe rcent reduction in maternal mortality by 1948.
During the 1950s and 1960$ medical ad vances brought
about further declines in maternal mortality. These advances
included the use of :lI1tibiotics, oxytocin to induce labor,
safe blood transfusion and better management of hyperten-
sive conditions. Furthermore, legaliz:ttioll of induced abor-
tions led to an 89 percent reduction in deaths from septic
illegal abo rtions between 1950 and 1973. The nation:tl
maternalmorcality rate continued to decrease until 1982,
when it reached a plateau. Since then, maternal mortality
rates have fluctu:J.ted between seven and eight maternal
deaths per 100,000 live births. As a result. the goal pro-
posed in 1987 for Hen/lily Pc()p/e 2000 of3.3 maternal
deaths per 100,000 live births has not been achieved. At
the same time. the current maternity mortality rate of 7.2
per 100,000 - a 99 percent decrease since 1900 - ca nnot
be underestimated.

Some experts argue that the U.S. has reached a level in

maternal mortality that cannot be reasonably lowered any
further, but the World Health Organization estimates that
20 countries have reduced their maternal mortality rate
below that of the United States. The 21st ce ntury offers
:tn oppo rtunity to continue the decrease of maternal death
rates, as approximately 59 percent of all U.S. matern:d
deaths can be prevented through early diagnosis :tnd appro-
priate medical care of pregnancy complicati ons . However,
obstacles exist to reducing this rate. In 1996, approximately
10 percent of all pregnant women received inadequate or

"Baby s/lII(k," W,lsllillgl<>lI, o. c., d,w 1927.

no prenatal ca re. Histori cally, the maternal mortality rate
has always been higber for black and minority women
than for white women. For exam pl e, III 1920 the maternal
mortality rate fo r wbite women was nearly half [bat of
blac k women. Cu rrently, th e maternal mortality rate is 5.5
per 100,000 live births for white women com pared with
23 .3 per 100,000 for black wome n and 7.9 per 100,000 for
H ispanic women . Intervention s must be designed to create
awareness of the importance of pre nata l care and to appl y
stra tegies to reduce persistent differences in mortality rates
between white and minority women.

Infant Morta lity Rates

T he declille ltl infant mortality is ullparalleled by any other
mortality reduction in the 20th centu ry. Today, less than
one in 100 Amencan babies die in inf.lllcy. A century ago,
as many as one III six mfants died. This incredible change
results from a process that has roots in the 18505 when
inf.1nt mortality was first recognized as a social problem.
.. During the first 30 years of the 20th century, public
ht:alth, social welfart: and clinical medicine collaboratt:d to
,
combat inf.1l1t mortality. These partnerships began improv- Duri ng the first
ing living conditions and the environment in urban areas, 30 years of th e
upgradi ng the quality of commercial milk and improving 20th century,
mothers' abiliti es to c ar ry, bear and rear healthy inf.1nts. At public hea lth ,
the beginning of the last century, the first steps to decrease soc ial welfa re and
infant mortality were established. First, the establishment clinical medicine
of sewage disposal and safe drinking water were particularly collaborated to
important in reducing inf.1nt mortality rates during these combat infant
years. Second, milk pasteurization, first adopted in Chicago mortality.
in 1908, contributed to the control of gastrointestill:ll
infections from contamin ated milk supplies. T hird, infancy
and materlllty programs secured federal funding, specifically
to establis h the National C hildren's Bureau in 1912, whi ch
was proposed by M artha May Elliot, among others.

M artha May Elliot ( 189 1-1978) is considered a pioneer

in n1:lternal and chi ld health. A gr:lduate of Johns Hop kins
University, she was a leading pediatrician and an important
archi tect of programs for maternal and child health. Elliot
directed the National Childre n 's Dureau Division of Child
and Maternal Health from 1924 until 1934. During her
tenure, this institu tion became the primary government
agency to work toward improving maternal and in(,1nt
wclf.1re. As ea rl y as her second year of medica l sc hool,
 ,
", ',.
.. . .,
. J i~
, ' . ,~";J - 151

Dr. Mllrllrll Mlly Elli(JI lIisilill.<! 1/ (hild lira/lil c/ill;(

illl<l1,slli'WOII, D.C, 1945.

Elliot hoped to become, in her words, "so me kind

of social doctor." While leading the Childrcn's Uureau ,
she helped establish government programs tlUt impl ement-
cd her ide:ls :lbout soc i:ll medic ine, The Children's I3mc:lu
advoc:lted comprehe nsive matern:ll :lnd 111f.1nt wclfue serv-
ices, including prerl:lt:ll, natal and pOstp:lrnrm horne visits
by he:llth carc providers. By rh e 19205, the Integration of
these services changed the approach to infant mortality
from one that addressed infant health problems to onc that
included inf.1I1t and mother. The new approach focused on
prcn:lt;!l-carc programs to educatt', monitor and care for
pregnant women. Even more significant changes in inf.1nt
mortality were still to come, however.

Th e advent of anti microbia! agents (sulfonamide in 1937

and penicillin in the 19405), the development of fluid :md
electrolyte replacement and safe blood transfusions acceler-
ated the decline ill inf.1nt mortality rates during th e 19305
and 1940s. Fronl 1950 through 1964. inf3nt nlOrtality
declined IIIOfe slowly. lncre3sing r3tes ofinf.1nt dC3th were
:ntribured to prenatal causes that occurred among high - risk
neonates, especially low birth weight (LOW) and preterm
babies. This led to renewed efforts in the 1950s and 1960s
to improve access to prenatal care, especially for the poor,
and to concentrate efforts to establish neonatal intensive
care units and to promote research in maternal and inf:1nt
health. This research included technologies to improve the
sllTvival of LBW and preterm babies. In the bte 1960s dur-
ing the :tdvent of Medicaid and other federal programs,
infant mortality declined substantially. From 1970 to 1979,
neona ta l mortality plummeted 41 percent due to techno-
logic advances in neonatal medicine and the regionalization
of perinatal services.

During the early to mid 19805 the downward trend in U.S.

infant mortality slowed again. In the early 1990s, inf:1nt
mortality declined slightly faster due to the widespread
introduction of artific ial pulmon ary surfactant to prevent
and treat respiratory distress syndrome in premature infants
and to the increased use of maternal steroids. From 1991 to
1997, the decrease in infant mortality cominucd, in part,
because of reduced mortality from sudden infant death
syndrome (5 11)5). .. Thanks to public health autho ri -
ties recommending that infants be placed on thei r backs to
,
Thanks to public
sleep, S10S rates declined greater than 50 perce nt during
health authorities
this time. Overall, the inf:1nt mortality rJte today represents
recommending
a 90 percent decreJse fi·om that experienced at the begin-
that infants be
ning of the 20th century. Despite this incredible achieve-
placed on their
ment, medic:!1 and pllblic health problems in maternal and
backs to sleep,
child health remain to be resolved, among [/lcm birth
SIDS rates
defects, curremly the leading cause of infant mortality. Yet
declined greater
rhe causes for 70 percent of birth defects remain a mystery.
than 50 percent
Birth Defects during this time.
A birth defect is an abno rmality of structure, function, or
metabolism present at birth that results in physical or mcn-
tal disability. Birth defects can be fatal and are the leading
ca use of 111f:1nt mortality in the U.S. , accoullting for more
than 20 percent of all infant deaths. Of 120,000 U.S. babies
born each year with a birth de fect, 8,000 die dunng their
first year of life. According to a report by th e National
AC:l demy of Sciences, nearly half of all pregnancies today
result ill the loss of the b:lby or :l child born with a birth
defect or chronic health problem. T he leading birth defects
 associated with inf.1llt death 3rc heart defects (31 percent),
respiratory defects (15 percent), nervous system defects (13
percent). multiple abnormalities (13 pcrccm) and musculo-
skeletal abnorm:llities (7 percent). Birth defects contflbute
subst:mtially to childhood morbidity and long-term disability
and arc also a l1l:ljor calise of miscarriages and fetal dC:lth.

The true incidence of birth defects is very diffic ult

to determine because of inconsistent and incomplete
national data gathering. Although surveill:lilce systems
are vital for monitoring and detecting trends in birth
defects, there has never been an effective nationwide data
system on birth defects. The Pew Environmental H ealth
Commission recendy reviewed this issue, finding that

, while the incidence of some birth defects is increasing

rather dramatically, ~ one-third of all states have no
system for tracking birth defects, and systems are inadequate
... one-third of III mOSt oth e rs. Moreover, even in states with birth defect
all states have no registries, most do nOl include children whose defects do
system for track- nOt become apparent until months or years after birth.
ing birth defects,
and systems are In the late 1960s, the Centers for Disease Control and
inadequate in Prevention (CDC) started the first birth-defects surveil-
most others. bnce system in the Ul1Ited St.1tcS, but that system was
limited to the metropolitan area of Atlanta, Georgia.
Since 1967, the Mctropolitan Atlanta Congenital Defects
Progr:llll (MACD P) has been monitoring all major birth
defects in five counties of the metropolitan Atlanta area
(Clayton, Cobb, DeK:llb, Fulton and Gwinnett) with
approximately 50,000 annual births in a popubtioll of
3bom 2.9 million. For some time, CDC used the newborn
hospit:ll discll:lrge sumlll:lry and vital st3tistics to monitor
birth defects natiollwide, but both of these systems proved
to be extremely inaccurate because many structural con-
genital anomalies were not accurately identified at birth.
111 1983, the California Birth Defects Monitoring Program
began an active survei llance system in the five coun ti es
around the San Francisco Bay area. Founded by Drs. John
H arris and Ri chard Jackson in conjunction with Califo r-
nia's legislature and governor, this program became a
model for surveillance in other states and 3 worldwide
leader in birth defects research. Adding new counties to
its surveillance area, statewide coverage was achieved ill
1990. The program is now the leader in birth defects
surveilla nce and prevention with more than 250 published
findings, ongoing monitoring of 334,000 births per year
and trailblazing research.

.. Perhaps th e m OSt important advance in the registry ,

and prevention of birth defects data came in 1996, when
Perhaps th e
the Co ngress directed CDC to establi sh the Centers for
most important
Birth D efects R esea rch and Prevention (C BDRP). Formal-
ized with the passage of t he Birth Defects Prevention Ac t advance in the
of 1998, CDC was 3uthOrlzed to: (1) coll eer. analyze 3nd registry and pre-
vention o f birth
make available data on birth defects; (2) operate regional
ce nters that conduct applied epi demiologic research for th e defects data ca m e
in 1996, when
preventio n of birth defecrs; and (3) prov id e the public with
information on preventing birth defects . C urren tly, CDC the Co ngress
directed CDC
has established ce nters in Arkansas, Califo rni a, Iowa , M ass-
ach usetts, New York, N orth Ca ro lina , Texas and Utah. The to establish the
centers were establ ished in states whose existin g birth Centers for B irth
D efects R esearch
defects progra ms were na tionally recognized fo r expertise
and Prevention.
in birth defects surveillan ce and research.

The ultim ate goal of tra cki ng and research is to develop

3nd imple m e nt effective programs to preven t birth defects
and developmental disabilities. Even without 3n accurate
nationa l birth defects t rac king system, it has been possible
to imple m e nt prevention ca mpaigns to decrease birth
defects. One e:-: ampk of a Sllccess in this area is t he
na tion al folic ac id education ca mpaign led by the M arch
of Dimes, C D C and its partn er organizations, such as th e
Spina 13ifida Association . Preside nt Franklin R oosevelt
founded the Ma rch of Dim es in 1938 as a national volun-
tary health agency to help co mbat birth defens. This new
multiyear national e du ca tion ca mpaign aims to inc rease
the numbe r of women who take folic acid dail y, and it is
known to have had an impact. A study published in th e
jm/rnal oj rhe Americall Medical A ssocia lioll in 2001 showed
that ne ural tube defects in newborns dec reased 19 percent
betwee n 1995 and 1999 in the wake of this campaign.
Furthermore. advan ces in neonatal tcc bn ology have
improved the survival rate of prete r m babies wh o weigh
less th:m five pounds, eight Ollnces at birth.

Today, bi rth defects loom as the No. [ cause of infant dea th .

T be fact that one in 28 babies is born with a birth defect
should give t he public health community pau se. Advan ces
in medical treatments will co ntinue to improve t he survival
rate of babi es with birth defects and may co ntinu e to shi ft
 mortality associated with these deaths from inf:mcy to bter
stages of life. However, increased funding for surveillance
and research will be necessary to develop effective programs
to prevent the tragedy ofbinh defects, which occur in
150,000 American families every year.

Family Planning
The hallmark of family planning in the United States in
the 20th century has been the ability to ach ieve desired
birth spacing and family size. Smaller f.llllilies and longer
intervals between births have contributed to the better
health of inf.l11ts, children, and women and have also im-
proved th e so cial and economic role of women. However.
;lccess to effective and legal co ntraception has not always
been :lVa ilablc to women. [n 1900, it was illega[ under
federal and state laws to distribute information and to coun-
sel patients about contraception and contr;lceptive devices.
Some sectors of society rejected this law, and the modern
contraceptive movement began.

In 1912, Margaret Sanger initiated efforts to circulate

information abo ut and provide access to contraception.
Sanger was a public health nurse concerned abollt the
adverse health effects of frequem childbirth , miscarriages
and abonion. In 1916, Sange r challenged the laws of the
day and opened the first family planning clinic in
Brookl yn. New Yo rk. The police closed her clinic, but
Sange r con tinu ed to ptomote family planning by opening
more clin ics and challe nging legal restrictions during tht':
Ma~{!IIT1'1 Sall,{!1'f ill 1920s and 19305. The court challenge established a legal
1916. precedent that allowed physicians to provide advice on
contraception for health reasons, and physicians gained the
right to counsel patients and to prescribe contraceptive
methods. 13y th e 1930s, a few state health departments
(such as North Ca rolina) and public hospitals had begun
to provide family planning serv ices. By 1933, the average
family size had declined from 3.5 to 2.3 chil dren.

During thc 1940s and 1950s, new efforts arose to create

effective contracept ive methods. In the early 1950s, John
R.ock, a highly regarded obstetrician and gynecologist, who
graduated from Harvard Ul1lversity, and Gregory Pincus, a
biologist, who graduated from Cornell University, worked
together to create an oral contraceptive. They tested their
version of an o ral contracepti ve pill in preliminary trials in
Boston in 1954 and 1955.After the success of the prelimi-
Il:l ry tr ials for the PiJ1, Rock and Pinclls we re confident
they had created an effective contraceptive method. But
without large-scale human trials, the drug would never
rece ive FDA :lpproval necessa ry to bring the drug CO
market. .. In the summer of 1955, Pincus visited
Pue rto Rico and discove red a perfect location for these
hum:lI1 trials. Puerto Rico had no anti-contraceptive laws In the SUlllmer
on the books :lnd had an extensive network of birth of 1955, PinC LIS
control dinics already in place. visited Puerto
R..i co and discov-
The base for the first trial was a clinic in Rio Piedras. ered a perfect
Puerto Rico. The Rio Piedras t rials got off the ground location for these
quickly in Apnl 1956. In no timc, thc [fi:ll was filled to hUl1l:lIl trials.
c:lpac ity, and expanded trials beg:lll at other locations on
the island. The pharmaceutical company G.D. Searle manu -
factured the pills for the trial. Rock selected a high dose
of Enovid, tbe company's brand name for its synthetic oral
progesterone. to ensure that no pregnanc ies would occu r
while test subjects were on the drug. Later, after discove r-
ing Enovid worked bener with Slll:lll :llllounts of synthetic
estrogen, that active ingredient was added to the Pill as
well.

Dr. Edris R ice- Wray, :I faculty member of the Puerto R ico

Medical School :lnd medica! director of the Puerto Rico
Family Planning Association, supervised the trials. After a
yea r of tests, Rice-Wray reported good news to Pin cus.
T he Pill was 100 percent effective when taken properly.
However, she also informed him that 17 pe rcent of the
women in the study complained of nausea, dizziness.
headaches. stomach pain and vomiting. So ser ious and
sustained were the sid~ effects that Rice-Wray told Pin cus
that :I 10 milligram dose of Enovid ca used "too many side
reactions to be generally acceptable."

R ock and Pincus quick ly dism issed Rice- Wray's conclu-

sions . Confide nt in the safety o f the Pill, Pin clLs and R ock
took no action to :lSSess the rOOt cause of the side effects.
As a result. in later years, Pincus' team would be acclLsed
of deceit, coloni:tlism and the exploitation of poor womeIl
of co lot. T he wo men had been told only tha t they were
taking a drug that prevented pregnancy and were not told
that they were involved in a clinical trial, [hat the Pill was
experimenta l and th at potent i:llly dangerous side effects
were possible. Pincus and Rock, however. believed they
 were followi ng th e appropriate ethica l stan dards of the
ti me. To this day, questions linger ove r wheth er Pincus
and R ock, in th eir rush to bring an effective pill to
market, overlooked ser ious side effects from the anginal
high- dosage Pill during trials . The ctt rrent dosage of o ral
contraceptives has been dramatically lowered, and tbe inci-
dence of serious side effects has been greatly reduced.

[n [960, the era of modern co ntrace pti on began when

both the birth co ntrol pill and the intrauteri ne devi ce
(IUD) became available. These effective and convenie nt
methods res ulted in widespread chan ges in birth co mrol
and socia l behavior. By 1965, the Pill had become the
most popular binh control method , followed by the co n-
dom and contraceptive steri li zation. M ea nwhile, th e IUD
fell out of favo r following repons that sterility might result
1960 WI/IMrcprirl{' pills.
if th e device was improperly implanted or monitored. In
fact, lawsuits ca used bankruptcy of the m:l.l1uf:tcturer of
the popular Dalkon Shield. It would be decades until
newer, safer IUDs were reintroduced to the m:trket as
a co ntra ceptive option.

In 1970, federal fundin g for family planning se rvices was

established under th e Family Planning Serv ices and
Po pul ati on R esearch Act. which crea ted Title X of the
Publi c H ea lth Service Act. Durin g this period. the Sup reme
C ourt finally stru ck down state laws prohibitin g co ntracep-
tive use by marri ed couples . Medicaid funding for f.1mily
planning was author ized in 1972. Services prov id ed under
Title X grew rapidl y in the 1970s and 1980s; after 1980,
public fundin g for family planning continued to shift to
the M edica id prog ram. Since 1972 , th e average fa mil y
size has kveled ofT at app roxi mately two children , and the
safety, effi cacy, dIversity, accessibility and use of contracep-
ti ve methods have increased. In the late 19905, legislatures
111 19 states mandated partial or comprehensive insurance

coverage for reversible methods of contra ce ption. Access

to high -quality contracept ive se rvices will continue to be
an important factor in promoting healthy pregnancies and
preve nting unintended pregnancy in this co untry. 0
Case Study
Folic Acid

Each year, spina bifida or anencephaly, the twO most com-

mon forms of neural-tube defects. occurs in one in 1,000
pregnancies in the U.S. Anencephaly and Splll3 bifid:l,
which affect approximately 4,000 fetuses each yC:lf, :arc
important factors in fetal and infa nt mortality. All infams
with anencephaly arc stillborn or die sho rtly afte r birth;
whereas, many inf.1nts with spina bifida now surv ive as
a resu lt of extensive medical and surgical care. H owever,
inf.1nts with spina bifida who survive are likely to have
severe, lifelong disabilities. In addition to the emotional
cost of spina bifida, the estimated monetary COst is stagger-
ing. In the U.S, alone, the total cost of spina bifid:! ove r a
lifetime for affected inC'l.Ilts born in 1988 was almost $500
million or 5249,000 for each inf.'lI1t.

A d,>C/or eXalll illl'S (I child wif/, spilla bifida at a clillic lIear Brolllllslli/k,
Je.\·,H, all fire U.S.-II/l exica borda,

Although these severe conditions have been recognized

since antiquity, never before has progress been as fast and
substantive as in the last three decades, particularly in the
arC:l of prevemion, During th:lt time, evi dence mounted
thar viC:lmin suppl emcnts in thc C:lriy stages of pregnancy
co uld prevent nCllf:ll-tlIbe defects, In 1976, Dic k Smitbells
:lnd colleagues in the United Kin gdom reponed that
womcn who gave birth to babies with neural-tube defects
 had low serum levels of micrOlllltrients, including some

, vitamins. These findings led them to propose a randomized

controlled trial of vitamin supplemen tation . .. As
a result, in 1983 they ft.'port cd that among wom en who
... among had previously had an aITected pregnancy. those who
women who took a Illultivit;lmin during the early stages of pregnancy
had previously had an 86 percent lower risk of baving another affected
had :m affected fet us or inf:1nt than those who d id not take th e multivita-
pregnancy, those min . However, because Smithel ls and colleagues had not
who took a multi- been permitted to randomly assign the use of the multivit-
vitamin during amin among participan ts in their study, their finding di d
the early stages of not lead to public action.
pregnan cy had an
86 percent lower In f.1c[, act ion was ddayed until the publication of two
risk of baving randomized, peer-reviewed st udies a decade later. In
another affected 1991 , a randomi zed controlled trial funded by the l3ritish
fetus or inf:1l1t Medi cal R esearch Council demonstrated that foli c ac id
than those who supplementation before pregnancy and during its early
did not ta ke the stages marked ly reduced the risk of neural-tube defects in
mul tivitamin. newborns. This finding led the Public Health Se rvice and
C DC in 1992 to recommend that all women who are
planning to become pregnant take folic acid supple ments
beginning before pregnancy and continui ng through its
early stages. C D C directs its recommendation :l.t wome n
of childbearing age, because as many as 50 percent of
pregnanc ies in t he U.S. are unplanned. Th e evidence sug-
gests that folic acid supplementation must begin before
pregnancy to protect against neural-tube defects.

Publi c health officials have cons idered three approaches

ro achieving CDC's recomme ndation for a dai ly foli c ac id
inrake of 0 .40 milligrams (Illg): (1) promoting daily usc of
vitamin supplements that contain folic acid, (2) promoting
di etary intake of foliate-rich foods, an d (3) fortifying food
with folic acid. A landmark public health decision by th e
Food and D rug Administration allowed the third approach
to be implemented in January 1998. Th~ FDA Inandatcd
that all e nri ched grai n products, sll ch as noms and pastas.
must also be fortified with 140 micrograms (!-Ig) of folic
acid per 100 g rams grain . Tht: measurement was based on
the estimate rh:n the ave rage Amcrican wom:l.Il of repro-
ductive agc would consume about 100 !-Ig of folic ac id per
day from foods co ntaini ng enriched grain products. This
public health decision has proved to be a success. The
a.ddition offolic acid to commonly eaten foods has
dramatically reduced by 50 pcrcent th e in cidence of sp ina!
bifida in newborns. More important, the cOSt of fortifica-
tion is small. In the U.S .. it costs about one cent per person
pcr year, or about S 1,000 per neural-tube defect prevented,
which represents less than one percent of the total cost
of spina bifida over a lifetime for each infant affected .

R ega rdl ess of the method chosen to increase folic :J.Cid

intah:, the full potential of preventing neural-tube defects
can be realized only if women in crease their intake of folic
acid supple mentation at the correct time of pregnancy.
[n 1998, acco rding to Gallup surveys commissioned by the
March of Dimes, most women were taking folic :acid tOO
late to red uce their risk of having a baby with a neural-
tube defect. The surveys showed a steady increase ill the
number of women who had heard of folic acid, bm no
increase in th e number of women taking a multivitamin
eve ry day. H owever, this trend has changed with time and
the hard work of organizations see kin g to increase women's
intake of folic :a cid. According to the March of Dime's
latest su rvey publ ished in a September 2004 Morbidil), &
lv/ortn/iIY Weekly Reporl, ~ :l record 40 percent of
American women of childbear ing age reported t:lking a
,
d:lily multivitamin co ntaining folic acid in 2004, lip from .•• :1 record 40 per-

32 percent in 2003, and the highest level since the March ce nt of American
of Dimes began surveying women in the 19905. women of child-
bearing age
Dr. Jennifer L. Howse, president of the March of D imes, re ported taking a
recenrly sa id that the latest survey shows that women tOday daily lllultivitamin
seem to understand the importance of folic acid to the containing folic
health of babies. This means that women who ll1ight acid in 2004 ....
become pregnant in che United States are aware of the
benefitS of folic acid intake and are taking this prevcmivc
approa ch. Increasing foli c acid intake represents a major
step in reducing infant monality and morbidity and is one
of the 20th cen tury's dearest public health successes. 0
 16 1

Vignette
Amniocentesis
The tapping of amniotic fluid has been practiced for more than 100
years . Transabdominal amniocentesis in the third trimester of preg-
nancy was first reported in the literature in 1877. For today's pregnant
woman, having amniocentesis, or "amnia," is an important decision
that she must make between 15 and 18 weeks of pregnancy. Amnio-
centesis is the most comlllon pren:ltal test lIsed to diagnose chromo-
somal and genetic birth defects and has an accuracy rate of between
99.4 percent and 100 percent in diagnosing chromosomal abnormali-
ties. Amnia is recommended for women over :lgt 35 because th e risk
of chromosom e disorde rs increases with maternal age. The test is also
recommended to women who have had a previolls child with a birth
defect that amniocentesis ca n diagnose, a famil y history of a genetic
disorder or an abnormal triple-screen blood test result.

In 1956, in their seminal article in the journal NlIIurc, F. Fuchs andJ.

Riis reported the first use of amniotic fluid examination in the diag-
nosis of ge netic disease. They determined fetal sex from ce lls found in
amnioti c fluid , based on the presence or abse nce of tile Barr body (an
inactive X-chromosome found in the nuclei of somatic cells of mOSt
female mammals). That same year in the United Kingdom, John
Edward also discussed for rhe firSt time the possibility of the "ante-
natal detection of hereditary disorders."The determination of fetal
sex led to the prenatal management of patients with H aemophilia A
in 1960 and Du cllenne muscular dystrophy in 1964.

In their p:lpcr in The Llllec' in [966, the researchers M. W. Steele

and W. R. Breg demonstrated that cultured amniotic fluid cells
were suitable for karyotyping.ln 1972, DavidJ.H. Broc k and Roger
Sutcliffe discovered that excessive amounts of alpha-fNoprotein
(A FP) were present in tbe amniotic fluid of pregnancies with neural-
rube defeC[s. But a study in The New ElIglll/1d JOHnln/ of Medie;lIc in
1970 by H enry N:l.dler and Albert Gerbie was the real impetus in
genetic amnioce ntesis and diagnosis. Following the publication of
their article, ';Role of amniocentesis in the intrauterine di:lgnosis
of genetic defects," genetic laborato ri es for analysis of amniotic
fluid became prevalent :1nd included the detection of chromosomal
:lbnormaliries, X-Linked conditions, inborn erro rs of mct:l.bolism
':l.Ild neural-tube defects.

Thanks to advances in technology, amniocentesis tOday is a safe

test for both mother and ferus; although, a small risk of miscarriage
162 Mlicstones· Ch~ptn 8· M31crnal ~nd Child Ht', I!h . Vill"<'IlC

(o ne in 200 or less) exists. However, a recent study by the National

Center for Hu m:m Genome Research and th e Age ncy fo r Health ca rc
R esearch and Quality found that amniocentesis ca n be "cost-effective
at any age or ri sk leve l" and should be oITered to all pregnant women.
Using ultrasound as a guide, the health care provide r insen s a thin
needle through the mother's abdomen. A small amoun t of amniotic
fluid (the fluid that surro unds th e baby) is removed and tested. A
positive diagnosis indi cates, with near 100 perce nt certainty, a specific
ge neti c abnorm ality in th e fetus.

Fortunately, advances in prenatal th erapy now make it possible to

treat some birth defects before birth. For example, biotin de penden ce
and MMA (m etbylmaloni c acidemia), twO life-t hreatc tun g inherited
di sorders of body chemistry, can be detected by amniocen tesis and
treated in the womb, res ulting in the b irth of a healthy baby. How-
ever, if a fetus has a condition for which prenatal treatment is not yet
poss ible. prenatal diagnosis may hel p parents pre pare e motionally for
th e birth and plan th e delivery with their health ca re provider.
Pare nts can discuss their options with ge netic cou nselo rs as well as
with thei r hea lth care providers.

A fram ework for the role public hea lth can play in prenatal screenin g
such as amniocentesis, was best presented by th e Institute of M edici ne
in Th e Future of Public Health ( \988). Th e framework identifies the
followin g four essential publ ic heal th compone nts:

\. Surveillance and population-based epidemi ologic studi es to assess

how risk for disease and disa bility is influenced by th e interaction
of human ge netic va ri ation with modifiable risk factors.

2. Evaluation o f po licies and quality of genetic testin g to ensure the

appropria teness and quality of population - based genetic testing.

3. Inrervenrion development, impl ementation, and evaluation

to ensure th at ge netic tes ts and services are incorporated into
programs that pro mote health and prevent disease and d isability.

4. Communication and information dissemination to provide timely

and accurate infor mation to t he ge neral publi c and professional
audiences on the role of ge netics in hea lth promotion and disease
preve ntion.

Based on the expe rience wi th amn io ce nt esi~ and advances in

gen etics, genetic screening will challenge the fi eld of maternal health
in th e near future. a
i'vIlICMonc' Chap!a a M,1fcrll,,1 aud Clnld H",lth I nnkong AI1l'ad I 63

Looking Ahead
Genetic Screening
StatC newborn screening systems were the first genetics
programs for children, and they remain the largest. Nat ion-
wide, state public health prograllls screen an estimated
four million infants anl1ullly for genetic disorders, ElCh
yell' lPproxim:neiy 3,000 babies with severe di50rders are
detected due to newborn screening programs, Undetected
and untreated abnormalities can result in mental retarda-
tion, severe illness and premature death. State newborn
screening programs lI1volve testing, (allow-up, diagnosis,
treatment and evaluation.

As public health initiatives, newborn screening programs

focus resources 011 treatable conditions that occu r rdatively
frequently. Curremly, tests arc available for 29 genetic and
metabolic diseases, but moS[ babies arc not tested for all
of these disorders because policies regarding ge netic testing
vary frOIll state to state. Advances in technology, p:lrticularly
in genetics and metabolic research, will enable testing for
numerous abnormalities. These disorders include: carnitine
llpt:lke defect (CUD), congenit:ll adren al hyperplasia
(CAH), cystic fibrosis (CF), heaTing defiCIency, maple
syrup urine disease (MSUD), phenylketOtluril (PKU)
and sickle cell anemia (SeA).

Genetics is growing in importance as the publtc becomcs

llIore knowledgeable and more demanding of genetic
services, and as the knowledge of our genes and their func-
tions permits more effective strategies for treatlllellt and
especially for prevention, the special responsibility of
public health. As genetic research yields vaSt lllforrnatioll
about sequcnces, mutations and variation, the public
health sciences will be called upon to int('rprct clinical
signific:lncc in the context of cnvironmental, metabolic,
nutritional :lnd behavioral risk factors,

The prevention of human disease is a time-honored and

honorable goal of public hohh professionals. What might
it mean, however, to use the special tools and authorities
of public health agencies to attcmpt to prevent genetic
disease? Many approaches to prevcntion are possible, but
attempts to locate them within traditional public health

" ~', ~ ' .

,.';" . ,,
, ' ,;,,~
' :
',' .
','
,;~,'
".
, ., .. ~ ,.,

;. , . .' ,~ , .
categories like "prima ry, secondary and tertiary" prevent-
ion have been confusing. It is important to distinguish
between two definitions of "prevention" that are often
lIsed in public health genetics: "phenotypic" prevention
and "genotypi c" prevention.

Phenotypic prevention desc ribes medical efforts to delay

or stop the clinica l manifestations of a genetic disease in
an at-risk patient, such as newborn screening and dietary
treatment for PKU. Genotypic prevention, on the other
hand, describes efforts to avoid the transmission of panic ll -
\ar genotypes from olle generation to the next. Genotypic
prevcmion can include pregnancy termination or the deci-
sion nOt to have children. ~ These decisions have
a profound impact on prospective parents as individuals
,
and as part of society, as they can affect the incidence of These decisions
a dise:lse in the larger popll l:ttion. h3ve a profound
impact 011
From a public health perspective, dIe eth ical issues prospective par-
surrounding genetic counseling include: ents as Individuals
and as p:lrt of
I. Autonomy. Thc right of individuals to act freely
soc!ety .. ,.
with adeq uate information.

2. Non-Malfeasance. The concept of "do no harm:'

3. Beneficence and Justice. In form ati on should be

helpful and aV:lil:tble to all.

4. Confidentiality. AlI information is private and not

to be sh ared with others.

In 1997, C DC created th e Office of Genomics and

Disease Prevention to 11Ighlight the emerging role of
genetics in the practice of public health in the United
Sta tes. The office provides internal coordination and
promOtes extern al partnerships in activities rela ted to
genetics, d ise:lse prevention and health promotion.
Prevention includes the use of medical, beh:lvioral,
:lnd envirolllnent:tl interventions to reduce the risk
of d isease among people susceptible bec:lusc of thcir
genetic makeup. This office su pports the responsible
usc of genetic tests :tnd services, including adequ:tte
t:1l11ily history assessmen t and genetic counseling. to
promote health and prevent disease in diffe rent
communities.
 165

The public health approach to genetic screening pbces

major emphasis on preventing the occurrence or mani-
festation of a partinllar disorder. If this proves not to be
feasible, a secondary approach is to identify high-risk
individuals and institute a program of early screening
followed by active treatmell[ to minimize any cri tical
expresSIOn of the condition. This Illodel works reasonably
well and is ethically acceptable when the disorder to be
treated will have serious, irreversible or possibly lethal
effects in the individuals affected. In thest' situa tions, the
risk/ benefit ratios will more than likely benefit the indi-
viduals identified as at-risk or affected.

The same cannot be said of the person screened if the

disorde r identified will not manifest itself for a number
of years. if the treatment available may be of questionable
value or if no effective intervention is known. The issue
becomes even more complex when the screening result
places the individual merely in a catego ry of increased
Dr. AllfII ROSCIifil'ld,
dflllt q{ litr Mailmall risk to develop the condition.
Sr/Jao/ oj Pub/if Dr. Allen R oscnfidd, dean of thc Mailman Sc hoo! of
He/lltll , CI~/umbia
Public Health at Columbia Unive rsity 3nd noted authority
Ullil'crsiIY·
on maternal and child health, observes, "20th century med-
ical advances, together with universal access to m:nernity

, ca re, can now prevent the most common labor complica-

ti ons from becoming life- threatening. ~ The_~e advances
have d ramaticllly improved the lives of women in the
"These advances United St3tes, sparing them the unnecessarily high risk
have dramatically of death and disability that women in many resource-
improved the lives poor countr ies in Africa. Asia and Latin America st ill f..1ce."'
of women in the Rosenfield continu es, '·While current state-of-th e-art
United States, advances have been of great Importance, basic interventions
sparing them the can help women experiencing complicat ions when morc
unnecessarily high sophisticated options an: not available. Programs have been
risk of death and developed in resource-poor coun tries to provide access to
disability that eme rgency obstetric care, including cesarean sections, treat-
women III Illany ment ofpostpartulll hemorrhage and infection, and man-
resource-poor agement of the complications of unsafe abortions to women
countr ies in whose complications would otherwise cau se death or dis-
Africa, As ia and ability."
Latin America
still (,1ce." J n othcr words. advanccs in maternal and child health owe
as mu ch to sound public health practices as to nt'W tech-
nologies. In order to realize its promise, genctic screening
 • - _ _. 0 - _ _ •

<t . .' ,,'

~
~
~. " 1 66 ' M,blOnt·S CI"p!<f H M.l!ern,) ~lId Clu)d Health , lonkmg Ah",d • . .-
,;."' .• _-.... , ...... ~ . ".\r.. • ','. - '''''.

will need to be partnered with good publi c health prac-

tices. It is these practices that have brou ght such astounding
success to red uci ng maternal and child mortality. Genetic
sc reening itself will inevitabl y becom e a powerful new
public health practice, transforming yet again the field
of matcrnal and child health, as lon g as provc n pra c[1 ces
continu e to be faithfully observed. a

Photo cre dits

Page 1-17: Mother w!th baby, c<>urte~y New York Public Llbr:1ry D'g; I,) Gallery.
Page 141'1: EIc.\!lOr )lOOiCWlt wilh children. 0 IIC!(lIlaIlIl/COIlII1S,
Page 14'): "[jab)' ,hack" 1927. courtc,)· Nt'\\' York I'nbllc Llb ... r)' 1);Il,u1 GJlla)'.
I'''g'' 151: Dr. Mmh~ M~r ElliOl. O E;k'ell n ..by 1"'.g,',.llIc.
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I'all" 157: Fan,,]), Planumg. courtc,y Wash"'glOIl Stale ])cpJrllncn! of Health.
1'.lg'· 158: Donor ,·.x.un""ng child. 0 AllIlIr Grlffi,h, lid, I CORBIS.
1)~Il" I (oj: Newburn baby. 0 CORlIlS.

I'llle 16(,: M311 .lId preg"'II! ",o""n. CO IU;ll S.