Fetal alcohol

spectrum disorderKUSMW OBGYN GRAND ROUNDS

RACHEL MAROHL, MD, PGY2

OCTOBER 25, 2017

Outline

Definitions

Epidemiology

Pathogenesis

Clinical features

Diagnostic criteria

Treatment

Prognosis

Screening

Definitions

Fetal alcohol spectrum disorder

Broad range of adverse sequelae in alcohol exposed offspring

FAS most severe diagnosis

Fetal alcohol syndrome (FAS)

Evidence of prenatal alcohol exposure

Evidence of CNS abnormalities

Specific pattern of facial abnormalities: narrow eye openings, smooth

area between lip and nose and thin upper lip

Growth deficits either prenatally, after birth or both

Partial fetal alcohol syndrome

Definitions

Alcohol-related neurodevelopmental disorder (ARND)

Requires evidence of both prenatal alcohol exposure and CNS

abnormalities (structural or functional)

Cannot be explained by factors other that prenatal alcohol exposure (family

background, environment or other toxins

Alcohol-related birth defects (ARBD)

Medical conditions linked to prenatal alcohol exposure such as: heart,

kidney and bone problems/other malformations; difficulty seeing and

hearing, reduced immune function.

Rarely seen alone; secondary disorder accompanying other FASD

conditions.

Epidemiology

The 2009 National Birth Defects Prevention Study of over 4000

women that asked women about drinking behavior for the entire

duration of pregnancy, found that 30 percent of pregnant women

reported any alcohol use and 8 percent reported binge drinking (4+ drinks on one occasion) on at least one occasion.

FAS prevalence estimated to be 1-3 per 1,000 live births

Similar to prevalence of down syndrome

Leading known cause of intellectual disabilities

Risk factors

Older maternal age

High parity

African-American or Native American

Low socioeconomic status

Unmarried

Unemployed

Use of illicit drugs and tobacco

History of sexual or physical abuse or

neglect

History of incarceration

Having a partner or family member who

drinks heavily

Having psychologic stress or a mental

health disorder

Pathogenesis

Alcohol readily crosses the placenta

Alcohol excreted by the fetus into the amniotic fluid is "recycled"

through fetal swallowing of amniotic fluid and intramembranous

absorption.

Eliminated from the fetal compartment at a rate of only 3 to 4

percent of the maternal rate.

Fetal liver does not have significant alcohol dehydrogenase (ADH),

ALDH and other antioxidants like glutathione

Pathogenesis

Acetaldehyde disrupts cellular differentiation and growth

Disrupts DNA and protein synthesis

Inhibits cell migration

Modify metabolism of carbohydrates, proteins and fats

Decreases transfer of amino acids, glucose, folic acid, zinc and other

nutrients across the placenta barrier

Affecting fetal growth

Pathogenesis

Alcohol is a teratogen with

irreversible central nervous system

effects.

In addition, alcohol-induced

epigenetic alterations may disrupt

normal developmental gene

expression

Exposure by trimester

First trimester: facial anomalies and major structural anomalies, including brain anomalies

Interferes with migration and organization of brain cells and formation of CNS

Second trimester: increases the risk of spontaneous abortion

Third trimester: affects weight, length, and brain growth

Hippocampus affected leads to problems with encoding visual and auditory information

Inability to form or retain new memories

Neurobehavioral effects may occur with a range of exposures throughout gestation, even in the absence of facial or structural brain anomalies.

Diagnostic criteria- FAS

1. Dysmorphic facial features

Small palpebral fissures

Thin vermilion border

Smooth philtrum

2. Prenatal and/or postnatal growth

impairment

Diagnostic criteria- FAS

3. CNS abnormalities (must have

at least one)

Structural

Head size <10%ile, significant brain abnormality per imaging

Neurological

Hard: abnormal reflexes, abnormal tone, cranial nerve deficits

Soft: poor coordination/balance, visual-motor difficulties, difficulty with rapid successive movements, right-left confusion

Recurrent seizures

Functional

Cognitive, executive function,

hyperactivity, poor understanding

of social cues, lack of reciprocal

friendships

Additional findings

Cardiac

Heart murmurs, ASD, VSD

Skeletal

Joint abnormalities, altered palmer crease, small distal phalanges

Renal

Horseshoe, aplastic or hypoplastic

Ocular

Strabismus, optic nerve hypoplasia

Treatment

No cure for FAS

Speech, occupational and physical therapy

Parent-child interaction therapy

Medical therapy

Protective factors

Diagnosis before 6 years of age

Nurturing, stable home environment

Absence of violence

Early involvement in special education and social services

Prognosis

Children with FASD high risk for adverse life outcomes from

"secondary disabilities."

Inappropriate sexual behavior

Disrupted school experience

Trouble with the law and incarceration

Homelessness, unemployment

Substance abuse problems

Chronic mental health problems

Premature death

Screening

TWEAK

T: TOLERANCE for alcohol

How many drinks does it take before the alcohol makes you fall asleep

or pass out?

If you never drink till you pass out, what is the largest number of drinks

you have or can hold?

W: WORRY or concern by family/friends about drinking behavior

E: EYE OPENER, the need to have a drink in the morning

A: “blackouts” or AMNESIA while drinking

K: the self-perception of the need to CUT DOWN on alcohol use

Screening

Approximately 50% pregnancies are unintended

Important to screen and counsel all women of child bearing years

Breastfeeding and alcohol

consumption

Alcohol is not a galactogogue

May blunt prolactin response to suckling and negatively affects infant

motor development.

Ingestion of alcoholic beverages should be minimized and limited to an

occasional intake but no more than 0.5 g alcohol per kg body weight

60 kg mother is approximately 2 oz liquor, 8 oz wine, or 2 beers.

Nursing should take place 2 hours or longer after the alcohol intake to

minimize its concentration in the ingested milk.

If a woman drinks more than this amount, she should refrain from

breastfeeding for an additional two hours for each serving of alcohol.

Breastfeeding and alcohol

consumption

It is not necessary to express and discard milk after consuming

alcohol, unless the breasts become uncomfortably engorged

before enough time has elapsed for the alcohol to leave her

system.

Heavy alcohol intake can impair judgement and child care abilities

and should be avoided, regardless of how the infant is fed.

References

At-risk drinking and alcohol dependence: obstetric and gynecologic implications. Committee Opinion No. 496. American College of Obstetricians and Gynecologists. Obstet Gynecol 2011;118:383–8.

Policy Statement from the American Academy of Pediatrics. Pediatrics. Volume 129(3). March 2012.

Streissguth, A.P., Bookstein, F.L., Barr, H.M., Sampson, P.D., O’Malley, K., & Young, J.K. (2004). Risk factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. Developmental and Behavioral Pediatrics, 5(4), 228-238.

Streissguth, A.P., Barr, H.M., Kogan, J. & Bookstein, F. L., Understanding the occurrence of secondary disabilities in clients with fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE). Final report to the Centers for Disease Control and Prevention (CDC). Seattle: University of Washington, Fetal Alcohol & Drug Unit; August 1996. Tech. Rep. No. 96-06.

https://pubs.niaaa.nih.gov/publications/fasdfactsheet/fasd.pdf

Questions?