Running Head: ALCOHOL, PREGNANCY, AND FASD
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“Alcohol, Pregnancy and Fetal Alcohol Spectrum Disorders (FASD)”
Manuscript Submission by Gabriela Olivas RN, SNNP
University of Texas Medical Branch at Galveston School of Nursing
GNRS 5633
Dr. Debra Armentrout, PhD, RN, MSN, NNP-BC and Dr. Leigh Ann Cates, PhD, APRN, NNPBC, RRT-NPS, CHSE
November 20th, 2014
ALCOHOL, PREGNANCY, AND FASD
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Abstract
The leading cause of intellectual disability is maternal alcohol abuse. The consumption of
alcohol in any point in pregnancy may cause an array of disorders in the fetus known as fetal
alcohol spectrum disorders. The various detrimental effects from the consumption of alcohol in
the pregnant female can cause neurological, physical, social and emotional deficiencies in the
fetus. The severity of birth defects resulting from exposure of the developing embryo or fetus to
alcohol is determined by multiple factors, including genetic background, timing and level of
alcohol exposure, and nutritional status. The identification of severity of the disorder is postnatal
based on the clinical manifestations of the infant. Although no treatment is available,
intervention is key to support and improve the quality of life of the affected individuals.
Education is essential in preventing this disorder from occurring. The various economic, social,
and emotional implications for the individual and their families can be detrimental.
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Alcohol, Pregnancy and Fetal Alcohol Spectrum Disorders
Approximately 12% of women in the United States and over 20% worldwide drink
alcohol during pregnancy.1 Most women stop drinking or at least decrease their alcohol
consumption upon learning that they are pregnant.1 Still, roughly half of all pregnancies are
unplanned, and many women are unaware they are pregnant until four to six weeks into
pregnancy. As a result, they continue using alcohol at prepregnancy levels while preganant.1
Consequently, a significant proportion of women consume alcohol during the early stages of
pregnancy before knowing they are pregnant. This exposes the fetus during the most critical
time of development to the detrimental effects of alcohol. Indeed, studies show that alcohol
exposure early in pregnancy may affect fetal development even if followed by later gestational
abstinence.1
Alcohol consumption during any gestation of pregnancy causes fetal alcohol
consumption. This can cause damaging physical and neurological defects, leading to any one of
the array of disorders which are described as Fetal Alcohol Spectrum Disorders [FASD].2 FASD
is an umbrella term used for a range of physical, mental, behavioral, and learning deficits that
can occur in an individual whose mother drank alcohol during pregnancy.3 The most profound
areas of prenatal alcohol exposure are on the fetus’s brain development, effecting both the
cognitive and behavioral aspects of the infant.4 The incidence of FASD is believed to range from
0.2 to 2 per 1000 live births.5 Alcohol produces teratogenic effects in all gestations, with
peculiar emphasis depending on the trimester of pregnancy in which the alcohol is consumed.6
As there is no exact dose-response relationship between the amount of alcohol ingested during
the prenatal period, and given the gravity of damage caused by alcohol in the fetus, abstinence
from alcohol at conception and during pregnancy is strongly recommended.6
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Pathophysiology
When alcohol is consumed by a pregnant woman, it crosses the placenta and rapidly
reaches the fetus.7 Infants who were exposed to alcohol in utero are at increased risk for a range
of alcohol-related damage including any of the conditions in the FASD. Studies show equivalent
fetal and maternal alcohol concentrations, suggesting an unrestrained bidirectional movement of
alcohol between the diad.7 The fetus appears to depend on maternal hepatic detoxification
because the activity of alcohol dehydrogenase (ADH) in the fetal liver is less than 10% of that
seen in the adult liver.7 In addition, the amniotic fluid acts as a reservoir for alcohol; thus,
prolonging fetal exposure.7
The mechanism for the spectrum of adverse effects virtually all organ systems of the
developing fetus is unknown.7 Ethanol, and its metabolite acetyldehydrate (the placenta
deoxidizes ethanol to this substance), can alter fetal development by disrupting cellular
differentiation and growth, disrupting DNA and protein synthesis and inhibiting cell migration.
This is greatly due to the fact that the fetus experiences maternal alcohol levels at 50% of
maternal levels.8 Ethanol and acetyldehydrate modify the intermediary metabolism of
carbohydrates, proteins, and fats.7 Both also interfere and decrease the transfer of amino acids,
glucose, folic acid, zinc, and other nutrients across the placental barrier, indirectly disrupting
fetal growth due to intrauterine nutrient deprivation.7 This process also interferes with the
incorporation of amino acids into proteins. Acetyldehydrate affects cell membranes and cell
migration altering embryonic tissue organization with dysmorphic changes.8 This may limit the
number of fetal cells and lead to fetal growth restriction.8 Decreased placental transfer of linoleic
and docosahexanoic acid may also alter fetal growth and development.8
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The detrimental effects may be due in part to variations in the metabolism of alcohol in
the placenta by CYP2E1 and alcohol dehydrogenase.8 Elevated levels of erythropoietin in the
cord blood of newborns exposed to alcohol are reported and suggest a state of chronic fetal
hypoxia.7
Physiologic Impact
The occasional social drinker to those that drink uncontrollably can have varying
physiological effects on their fetus’s development depending on the gestational period and
amount of consumption during pregnancy.
First Trimester
During the first trimester of human gestation, alcohol exposure can alter the normal
development of the neural tube and crest, leading to microcephaly, hydrocephaly, ocular
malformations and facial dysmorphology that characterize fetal alcohol syndrome [FAS].9
Alcohol fetal exposure induces a delay in the generation of cortical neurons, with a reduction in
their number and their distribution.6 Because many women who drink alcohol are unaware of
their pregnancy, there is a link between cardiac defects and alcohol consumption within the first
trimester.6 It may be embryologically too late, if a woman stops drinking after learning that she is
pregnant since the fetus’ heart might not have correctly formed.10
Second Trimester
During the second trimester, alcohol exposure reduces intrauterine and postnatal growth.
It also affects the proliferation of glial and neuronal precursors, with a strong modification in the
migration of cortical neurons.6 These abnormalities are likely the cause of the agenesis, or
malformation of the corpus callosum, or ventriculomegaly, and of a small cerebellum.6 These
findings have been noted in autopsies of newborns exposed to alcohol in the second trimester.6
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Third Trimester
During the third trimester, the brain goes through a period of quick growth often called
“brain growth spurt.” The neurons are more prone to the apoptotic effects of alcohol.9 Through
this mechanism, damage is caused to the neuronal plasticity, which is the ability of the brain to
be changed in relationship to previous experiences.6 During development, neuronal plasticity
plays a key role in the processes of learning and memory.9 The proposed oxidative stress alcohol
induces explains the mechanism through which alcohol can exert harmful teratogenic effects on
the brain during the third trimester.11
Clinical Manifestations
The leading cause of intellectual disability is maternal alcohol abuse.10 FASD is related
to an extensive range of neurobehavioral deficits, including, poorer verbal learning and memory,
lower IQ, poorer attention and executive function and slower cognitive processing speed.12
These key characteristics develop in individuals with FASD. The clinical manifestations post
birth and within the first 36 hours after birth seen in these infants are discussed below.
At birth, FASD can cause a distinct set of facial anomalies that alert the health care
provider that the patient was affected by alcohol consumption in utero. FAS, the most severe
form of FASD, is characterized by a distinctive set of facial anomalies. The manifestations of
these facies include short palpebral fissures, flat midface, thin upper lip (vermilion border), flat
or smooth philtrum, microcephaly and pre- or postnatal growth retardation.13 Infants with FASD
also develop associated features such as epicanthal folds, low nasal bridge, short nose, and
micrognathia.14 The infant may also have decreased muscle tone, poor coordination and heart
defects such as ventricular septal defects (VSD) or atrial septal defects (ASD).7
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Central nervous symptoms can appear within 24 hours after delivery and includes
tremors, irritability, twitching, decreased tolerance to noise, or hyperacusis, hyperventilation,
hypertonicity, opisthotonos, and seizures.13 These symptoms may be severe, but they are usually
of short duration. There is an increased risk of both intracranial hemorrhage and white matter
CNS damage in premature infants of women who were heavy alcohol users (more than 7 drinks
per week).13
Diagnostic Approach
FASD diagnosis is difficult because prenatal exposure information is often lacking, and
large proportion of affected children do not exhibit the distinctive facial anomalies, and no
distinctive behavioral phenotype has been identified.12 There are three major factors that must be
addressed in the individual when a FASD diagnosis is considered: (1) physical growth,
development, and structural defects (i.e., dysmorphology); (2) cognitive and neurobehavioral
function; and (3) maternal exposure and risk.2 In 1996, the Institute of Medicine published
specific diagnostic criteria for FAS with confirmed maternal alcohol exposure, FAS without
confirmed maternal alcohol exposure, partial FAS with confirmed alcohol exposure, alcohol
related birth defects (ARBD), and alcohol-related neurodevelopmental disorders [ARND].5
Fetal Alcohol Syndrome (FAS): FAS occurs at the most critical end of the FASD
spectrum. The diagnosis is defined by the following strict criteria:

Three specific facial abnormalities which are a smooth philtrum, thin vermillion border,
and small palpebral fissures;15

Growth deficits (e.g. lower‐than‐average height, weight, or both); and15

Central nervous system (CNS) abnormalities (structural, neurological, functional or a
combination).15
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Partial FAS: When a person does not meet the full FAS diagnostic criteria but has a
history of prenatal alcohol exposure, some of the facial abnormalities as well as a growth
problem or CNS abnormalities may still reveal FAS.15
Alcohol‐Related Neurodevelopmental Disorder (ARND): People with ARND might have
intellectual disabilities and problems with behavior and learning.15
Alcohol‐Related Birth Defects (ARBD): People with ARBD might have problems with
the heart, kidneys, and/or bones, as well as with hearing and/or vision.15
A new test capable of detecting fetal fatty acid ethyl esters in the meconium of newborns
of heavy alcohol users may be useful to identify infants in need of early health, developmental
and psychosocial intervention and may enhance clinical research involving prenatal drug and
alcohol exposure.3
Therapeutic Options
Prevention
The American Academy of Pediatrics (AAP) recommends alcohol abstinence
preconceptionally, during pregnancy, screening of all pregnant women for alcohol use, and
referral of pregnant alcohol abusers for assessment and treatment.3 The Department of Health
and Human Services and the Office of the Surgeon General, released an updated Advisory on
Drinking and Pregnancy in 2005 advising women who are pregnant, planning to become
pregnant, or at risk of becoming pregnant to abstain from alcohol use. Moreover, research has
shown that earlier intervention, results in more successful the individuals are with these
developmental disabilities.
Guidelines for screening and management of FASD include universal screening of
pregnant women for alcohol use, so that appropriate management can be provided.3 A brief
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questionnaire such as the TWEAK (Tolerance of number of drinks needed to feel high; Worry or
concerns by family or friends about drinking behavior; Eye opener in the morning; blackouts or
Amnesia while drinking; self-perception of the need to [K] cut-down on alcohol use) is helpful
to nearly all obstetric settings for the identification of pregnant women at risk. TWEAK allows
referrals to be made for further drug or alcohol abuse and psychosocial assessment and
treatment.3 Another key element to consider is whether a woman has an alcohol dependence
prior to conception. If so, contraception consultation and services should be offered. It is
recommended that pregnancy be delayed until it can be an alcohol-free pregnancy.16 Due to the
devastating effects of alcohol on the fetus, prenatal education is fundamental to preventing
FASD.
Intervention
It is imperative to identify the possible diagnosis of FASD as soon as possible to ensure
better outcomes.17 Once an FASD is identified in a specific patient, prompt referrals and
enrollment in indicated services are required to achieve the best outcomes.17 The key to early
diagnosis is to keep the diagnostic possibility in the broad differential diagnoses of growth and
developmental disorders.17 No two people with an FASD are exactly the same. Early diagnosis
is important, so that the affected individuals can receive the needed support in a protective
setting. FASDs can include physical or intellectual disabilities, as well as problems with
behavior and learning. These symptoms can range from mild to severe.15 Treatment services for
people with FASDs differ for each person depending on their symptoms.15 There is no cure for
FASDs, but early intervention may improve primary effects (i.e., language, emotion
dysregulation) and prevent secondary effects (i.e., academic, legal, psychiatric problems) related
to FASDs.15 Patients benefit from early diagnosis and aggressive intervention with physical,
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occupational, speech and language, and educational therapies.15 The interventions must be
individualized, multimodal, and precise to the individual and their family and continue across the
individual’s lifespan.
Economic, Emotional and Social Implications
People with FASD often experience a wide range of health problems such as birth
defects, growth problems, cognitive delay, and speech and language difficulties. Infants affected
by FASD are also more susceptible to cardiac anomalies, urogenital defects, skeletal
abnormalities, and visual and hearing problems.18 The economic, emotional and social
implications related to FASD are daunting, but preventable.
Economic Implications
Given the wide array of disabilities, individuals who are affected with FASD may have
special needs that require lifelong help.18 Without the crucial support, people with FASD are at a
high risk of developing secondary disabilities such as: mental health problems, trouble with the
law, dropping out of school, becoming unemployed, homeless or developing alcohol and drug
problems.18 This leads to elevated costs throughout a lifetime. FASD costs $6 billion annually
in the United States.19 It costs $1.4 million to treat one person with FAS over their lifetime.19
The total lifetime cost per individual include estimates of medical treatment, home and
residential care, special educational services and productivity losses with patients with FASD of
all ages.19
Emotional/Social Implications
Children diagnosed with FAS or those affected by FASD often come from unstable
families and may be at greater risk for physical abuse, sexual abuse and neglect.19 As many as
85% of children with FASD are being raised by grandparents, other relatives, foster parents, or
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adoptive parents.19 It is paramount to counsel the childcare provider and their families on the
importance of caregiver attachment.19 Between a child’s birth and their third birthday, it is
particularly important for developing a stable and nurturing environment for the infant. Children
who may have FAS and are in the foster care system are at an increased risk for negative
attachment and reactive attachment disorder [RAD].19
Understanding a diagnosis can help families set realistic expectations and facilitate
appropriate treatment, intervention, and planning.19 Because the life skills affected by prenatal
alcohol exposure vary greatly, the correct intervention is unique for each individual with FAS
and their family.19 The CDC has identified age-specific services that are helpful to individuals
with FAS.19 The most effective interventions are those that are geared towards an individual’s
developmental level.
Conclusion
The worldwide rate of FAS has been estimated to be 1.9 per 1,000 live births.1 Recent
studies show an elevated FAS rate of 2 to 7 per 1,000 in the US, and FASD incidence is
estimated to be 2%-5% among elementary school children in the US.1 Alcohol now is
recognized as the leading preventable cause of birth defects and developmental disorders in the
United States.14 The severity of birth defects resulting from exposure of the developing embryo
or fetus to alcohol is determined by multiple factors, including genetic background, timing and
level of alcohol exposure, and nutritional status.14 Infants diagnosed with FASD have serious,
lifelong consequences related to alcohol exposure in utero. Early diagnosis is important so that
the affected children can receive the support they need in a protective environment. The
National Organization on Fetal Alcohol Syndrome (n.d.) best sums up the relationship of alcohol
ALCOHOL, PREGNANCY, AND FASD
and pregnancy by stating, “Alcohol and Pregnancy. No safe amount. No safe time. No safe
alcohol. Period 1.”
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