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Case 1


Author: Stephanie Starr, M.D., Mayo Medical School and Stephen Tinguely, M.D.,
University of North Dakota
Learning Objectives
Identify the known benefits of feeding human breast milk to infants. 1.
Understand the important elements of a prenatal history as they relate to
the health of the unborn child, including the importance of maternal age.
Recognize factors in the perinatal and newborn history that may put a
neonate at risk for medical problems.
Identify intrauterine factors that affect the growth of the fetus. 4.
Demonstrate knowledge of the indication for newborn screening for TORCH
infections, including human immunodeficiency virus (HIV).
Understand factors that affect maternal-to-fetus HIV transmission and those
that play a role in the prevention of vertical HIV transmission.
Identify the key concepts used in the clinical evaluation of gestational age
and stability at birth (e.g., the Ballard score and Apgar score). Use weight
and gestational age to categorize potential clinical problems.
Identify what medications are routinely given to all newborns (e.g., vitamin
K, hepatitis B vaccine, eye infection prophylaxis).
Identify the common etiologies for small-for-gestational-age (SGA) infants. 9.
Recognize the salient physical findings of congenital cytomegalovirus (CMV)
infection and name potential long-term complications associated with this
Summary of clinical scenario: A 17-year-old mother with no prenatal care
presents in active labor. She is found to have tobacco and alcohol exposure and
risk factors for HIV exposure. Neonatal exam is notable for microcephaly,
hepatosplenomegaly, and a purpuric rashall suggestive of a TORCH infection.
Key Findings from History HIV risk
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Tobacco exposure
Alcohol exposure
Absence of maternal HTN
Key Findings from Physical
Purpuric rash
Differential Diagnosis
TORCH infection
Vertically acquired HIV
Tobacco exposure
Fetal alcohol syndrome
Chromosomal abnormality
Key Findings from Testing Urine cytomegalovirus: Positive
Final Diagnosis
Congenital cytomegalovirus
Case highlights: This case explores important points of the history to assess risk
factors that affect fetal well beingincluding teratogens and maternal healthand
looks at specific issues related to teen health. At the delivery, the case offers
exercises for enhancing understanding of Apgar scores, assessment of gestational
age, intrauterine growth, transitional issues, and newborn care. The case presents
the common causes of small-for-gestational-age (SGA) infants, including perinatal
infections such as cytomegalovirus (CMV) and human immunodeficiency virus
(HIV). Prior to discharge, the importance of breastfeeding is taught. Multimedia
features include photos of an infant with CMV and a head computed tomography
(CT) scan demonstrating intracranial calcifications secondary to CMV.
Key Teaching Points
Fetal growth:
Intrauterine factors affecting fetal growth:
Maternal factors: Poor weight gain in the third trimester, poor nutrition,
preeclampsia, maternal prescription or illicit drug use, maternal infections,
uterine abnormalities, maternal asthma
Placental abnormalities: Placenta previa, placental abruptions or abnormal
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umbilical vessel insertions may lead to suboptimal fetal growth.
Fetal abnormalities: Fetal malformations (e.g., renal dysplasia or a
diaphragmatic hernia), metabolic disease, chromosomal abnormalities (such
as trisomy 13), and congenital infections
Mutiple gestation
Effect of teratogens:
Alcohol (ethanol):
Increases risk for fetal alcohol syndrome: Facial abnormalities, growth
deficiencies, central nervous system (CNS) dysfunction (mental retardation,
poor motor skills and hand-eye coordination, difficulties with memory,
attention, and judgment.)
There is no "safe" amount of alcohol that can be consumed during
pregnancy to ensure that fetal alcohol syndrome does not occur.
Increases risk for low birth weight. No characteristic facies.
Distinctive effects of marijuana have not been identified, but infants born to
mothers who smoke marijuana more than six times per week often have a
withdrawal-like syndrome (high-pitched cry and tremulousness) in the first
days after birth.
Cocaine and other stimulants:
Vasoconstriction, leading to placental insufficiency and low birth weight
May lead to subtle, yet significant, later deficits in cognitive performance,
including information-processing, and attention to tasks
Reference: http://www.perinatology.com/exposures/druglist.htm, site created by
The San Gabriel Valley Perinatal Medical Group, and link used by Harbor-UCLA
Medical Center for its teratogen Web site
Maternal/fetal human immunodeficiency virus (HIV):

Babies born to mothers who have HIV have ~ 2530% chance of HIV
Some states mandate offering HIV testing for all women during pregnancy.
Events that increase risk of vertical (mother-to-fetus) HIV transmission:
Frequent, unprotected sex during pregnancy
Advanced maternal HIV disease
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Premature delivery (before 37 weeks gestation)
In era before anti-retrovirals were used during pregnancy:
Membrane rupture > 4 hours prior to delivery
Vaginal delivery
Shown to decrease risk of vertical HIV transmission:
Zidovudine (anti-retroviral drug)
Caesarean delivery if prior to onset of labor and membrane rupture
No breastfeeding
Neonatal screening:
Metabolic screening: Some inborn errors of metabolism can present in neonates
with anorexia, lethargy, vomiting, and seizures. Other metabolic conditions have a
more insidious onset. The newborn screen helps test for conditions that might not
be readily picked up.
All states screen for phenylketonuria (PKU) and hypothyroidism. Some
states also screen for galactosemia, biotinidase deficiency,
hemoglobinopathy, maple syrup urine disease (MSUD), homocystinuria,
congenital adrenal hyperplasia, cystic fibrosis, G6PD deficiency, and
toxoplasmosis. Many states now screen for more than 30 diseases using
tandem mass spectrometry.
National Newborn Screening and Genetics Resource Center: http://genes-
Hearing screening: All newborns are screened for congenital deafness.
Critical congenital heart defects screening: Guidelines published in 2011
recommended the implementation of screening newborns for significant congenital
heart defects. Screening would consist of the measurement of oxygen saturation.
Benefits of breastfeeding: Human milk is recognized by the American Academy
of Pediatrics as the optimal food for infants. (Breast milk plus fortifier is
recommended for premature babies.)
Absolute contraindications to breastfeeding are rare and may include
maternal HIV infection, active maternal drug abuse and infants with
Exclusive breastfeeding is recommended for the first 6 months of life, and
then breastfeeding plus complementary foods until the infant is at least 12
months of age.
Stimulates gastrointestinal growth and motility
Decreased risk of acute illness during time infant is fed breast milk
Lower rates of diarrhea, acute and recurrent otitis media, and urinary tract
Associations between the duration of breastfeeding and a reduction in
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incidence of obesity, cancer, adult coronary artery disease, certain allergic
conditions, type 1 diabetes mellitus, and inflammatory bowel disease
Small neurodevelopmental advantages, including cognitive and motor
Potential maternal benefits, including decreased risk of breast and ovarian
cancer and osteoporosis.
Prior to hospital discharge, evaluate mother and baby for adequacy of
latch-on, suckling and milk transfer and progress of lactogenesis (milk
Provide mothers with the education, resources and follow-up to ensure
breastfeeding success.
Mothers should nurse their babies whenever there are signs of hunger,
which often is 812 times per day.
Within 24 to 48 hours after discharge an in-home lactation specialist or
physician should assess adequate urine and stool output as well as weight
Gartner, LM et al, PEDIATRICS; 2005, 115:496
Newburg, DS and Walker, WA, Pediatric Research; 2007, 61: 2-8
Interviewing adolescents: The HEEADSSS interview screens for risk-taking
behavior that may result in accidents, homicide or suicide (the three leading
causes of death for adolescents in the U.S.).Always complete at least a brief
HEEADSSS interview when obtaining a history from adolescent patients:
H - Home
E - Education/Employment
E - Eating disorder screening
A - Activities/Affiliations/Aspirations
D - Drugs (and alcohol, tobacco, and steroids)
S Sexuality
S - Suicidal behavior (along with depression and mental health concerns)
S - Safety (abuse, fights, weapons, seatbelts, etc.)
Goldenring JM, Rosen DS: Getting into adolescent heads: An essential update.
Contemporary Pediatrics.
Barratt M, Wong S, Platt FW. Conversations with adolescents: What we have
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learned from medical student exercises with standardized patients. JCOM 2006;
13: 39-42.
Prenatal history:
Infants born to adolescent mothers are at greater risk for lower birth
weight, partly due to increased risk of pregnancy-induced hypertension and
preeclampsia and vertically acquired sexually transmitted diseases.
Infants born to adolescents also have poorer developmental outcomes.
Other factors that increase the risk of neonatal medical problems:
Poor or nonexistent prenatal care
Maternal illnesses (mental and physical)
Maternal high-risk behaviors (illicit drug use, unprotected sex)
Family history of congenital/genetic disorders
Poor nutrition
Premature delivery
Newborn resuscitation:
In addition to remembering the ABCs (airway-breathing-circulation), keep in mind
some of the special features of routine newborn resuscitation:
Infants have large surface area relative to their body weight and therefore
can experience significant hypothermia from evaporation.
Warm and dry infant immediately.
Remove any wet linens.
Stimulate infant to assist in a vigorous cry, which helps to clear the lungs
and mobilize secretions.
Suction amniotic fluid from infant's nose and mouth to help clear the upper
Some newborn infants require further resuscitation, such as:
Blow-by oxygen
Positive pressure (bag-valve mask) ventilation with oxygen
Chest compressions
Physical exam:
Immediate assessment at birth: Examine neonate immediately after birth to
determine general condition of cardiorespiratory, neurologic, gastrointestinal
systems and to detect congenital abnormalities.
An Apgar score is assessed at one and five minutes following delivery. The
score is comprised of five components:
A = Appearance (skin color)
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P = Pulse (heart rate)
G = Grimace (facial expression)
A = Activity (neuromuscular tone)
R = Respirations (respiratory effort)
Each component is given 0, 1, or 2 points, with a total highest possible score of
10 points.
Assessment of gestational age:
Ballard exam: This method is helpful if there is no early prenatal ultrasound to
help confirm dates, or if the gestational age is in question because of uncertain
maternal dates.
Birth weight and gestational age:
Small for gestational age (SGA):
< 10th percentile on the intrauterine growth curve
Clinical problems associated with SGA include:
Hypoglycemia (due to decreased glycogen stores, decreased
gluconeogenesis). Symptoms include poor feeding and listlessness,
but also commonly asymptomatic.
Hypothermia (due to cold stress, decreased subcutaneous insulation).
Symptoms include poor feeding and listlessness, but also commonly
Polycythemia (due to hypoxia and/or maternal-fetal transfusion;
symptoms include a "ruddy" or red color to skin, respiratory distress,
poor feeding and/or hypoglycemia)
SGA infant should have temperature and blood glucose monitored closely
Appropriate for gestational age (AGA):
Within 1090th percentile on the intrauterine growth curve
Large for gestational age (LGA):
> 90th percentile on the intrauterine growth curve
Clinical problems associated with LGA include: Caesarean delivery; delivery
by forceps or vacuum (increased risk for cephalohematoma); birth injuries
(clavicle fracture, brachial plexus injury, facial nerve palsy); and
Head circumference < 10th percentile for gestational age
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Bickley LS. Bates' Guide to Physical Examination and History Taking, 7th Ed.
Philadelphia, Pennsylvania: Lippincott Williams and Wilkins, 1995: 624-627.
Observation: Note tone, movement, alertness. Look at shape of face, skull.
Observe for dysmorphic features. Palpate fontanelles and sutures.
Cardiovascular: Listen for rate, rhythm, presence of murmur. Feel for pulses.
Respiratory: Auscultate lungs. Look for signs of retractions, nasal flaring,
Abdomen: Palpate for masses. May be able to palpate spleen and/or liver edge
below the costal margin.
Extremities: The hips should have full range of motion. The Ortolani and Barlow
examinations should demonstrate no instability of the hips, and no "clicks" or
"clunks" are heard or palpated.
Neurological: Check reflexes: Rooting, Moro, palmar and plantar grasps, tonic
neck response, stepping response. Observe eyes for presence of red reflex.
Differential diagnosis
TORCH infection (TORCH = Toxoplasmosis, Other, Rubella, CMV and
Herpes-virus type 2; other refers to HIV, hepatitis B, human parvovirus,
and syphilis). A congenitally acquired TORCH infection may result in
microcephaly, organomegaly, and rash. More than 90% of newborns with
congenital CMV infection, however, have no clinical evidence of disease.
Symptoms of CMV, if present, are most likely to include signs involving the
skin, CNS and hepatobiliary system (jaundice, chorioretinitis, hearing loss,
intracranial calcifications). Additional testing is often needed to distinguish
among these infections.
Fetal alcohol syndrome: Rash and hepatosplenomegaly are not commonly
seen with ethanol exposure in utero.
Chromosomal abnormality: May result in an infant who is SGA. 3.
Vertically acquired HIV: Vertically acquired HIV cannot be ruled out until
lab tests are performed. Most newborns with HIV are asymptomatic,
although HIV may coexist with other infectious agents.
Prenatal tobacco exposure: Can cause placental insufficiency and an
infant to be small for gestational age.
Infant: The following studies are helpful in evaluating a newborn for possible
congenital cytomegalovirus and its sequelae:
Urine Cytomegalovirus (CMV): A urine culture positive for cytomegalovirus
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(CMV) in the first three weeks of life is evidence of congenital CMV infection.
Newborn hearing test: As explained further below, may be normal in a
newborn. Hearing loss may progress over time.
CT scan of the head: Abnormalities of congenital cytomegalovirus may include
microcephaly, intracranial calcifications, enlarged ventricles, and abnormal gyri
and a thickened cortex (a condition known as lissencephaly or agyria-pachygyria).
Ophthalmologic examination: Review for evidence of chorioretinitis.
Mother: The following are a few of the commonly performed prenatal labs:
Rapid HIV antibody test: A negative result allows mother to proceed with
Hepatitis B surface antigen (HBsAg): HBsAg is necessary to determine if a
newborn is at risk for hepatitis B infection. (Presence or absence of maternal
hepatitis B core antibody does not predict risk for vertical hepatitis B
Rubella IgG: Positive result is evidence of protection against the virus (either
through past infection or immunization).
Blood type and Rh
Monitoring the sequelae of CMV infection:
Hearing loss is common in infants who have congenital CMV infection. In
many infected infants onset of hearing loss may be after the newborn period
(i.e., newborn hearing screen may be normal). An infant infected with CMV
may develop hearing loss and progress to severe-to-profound bilateral
hearing loss during the first year of life.
Microcephaly and intracranial calcifications are factors associated with
increased risk of CNS sequelae of congenital CMV infection. Ongoing
developmental assessment is needed to observe for possible mental
retardation and/or cerebral palsy.
Regular ophthalmologic examinations to monitor for chorioretinitis
Hepatosplenomegaly and rash, the non-neurological neonatal clinical
abnormalities of CMV infection, can be expected to resolve spontaneously
within weeks.
Currently, antiviral treatment for CMV is indicated only for
immunocompromised hosts.
Routine medications given to newborns in U.S.:
Vitamin K (intramuscular injection): Prevents hemorrhagic disease of the
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newborn (vitamin-K deficiency bleeding)
Topical ophthalmologic antibiotic (erythromycin, tetracycline, or silver
nitrate): Decreases risk for transmission of gonococcal conjunctivitis. (Neonatal
prophylaxis does little to prevent conjunctivitis from chlamydia, which typically
occurs 714 days after birth.)
Hepatitis B vaccine: Centers for Disease Control (CDC) recommendation is for
hospitals to administer the hepatitis B vaccine to all newborns > 2000 grams,
regardless of maternal testing results.
Hepatitis B immunoglobulin (HBIG): Given to infants at risk for vertical
transmission (newborns whose mothers test positive for HbSAg).
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