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Newborn Surprises 1. Garth Asay, MD Chair, Division of Neonatal Medicine Mayo Clinic. Surprise. A completely unexpected occurrence or appearance. Newborn Surprises . The Delivery Room. I wasn’t really supposed to be on call that night.

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newborn surprises 1

Newborn Surprises 1

Garth Asay, MD

Chair, Division of Neonatal Medicine

Mayo Clinic

surprise
Surprise
  • A completely unexpected occurrence or appearance
newborn surprises

Newborn Surprises

The Delivery Room

slide11

I wasn’t really supposed to be on call that night.....

I was simply covering for a few hours until my colleague returned from an out-of-town meeting.

he said
He said….
  • “Don’t worry, I’ve got coverage for everything.”
  • “You will only get paged if there’s an unexpected problem with a newborn.”
i ve got to think fast
I’ve got to think fast…

This baby has...

1 = an abdominal wall defect

2 = an omphalocele

3 = a gastroschisis

4 = cloacal exstrophy

5 = Ganser syndrome

i ve got to think fast19
I’ve got to think fast…

This baby has...

1 = an abdominal wall defect

2 = an omphalocele

3 = a gastroschisis

4 = cloacal exstrophy

5 = Ganser syndrome

gastroschisis h th nh b ng
GastroschisisHở thành bụng
  • 4 per 10,000 live births
  • Umbilical cord intact
  • Rarely associated with other anomalies
  • Surgical correction
  • Survival rate is > 90%
the first thing i must do is
The FIRST thing I must do is….

1 = rush this baby to surgery

2 = pass an orogastric tube

3 = wrap the bowel with warm, sterile saline dressings

4 = start a peripheral IV

the first thing i must do is22
The FIRST thing I must do is….

1 = rush this baby to surgery

2 = pass an orogastric tube

3 = wrap the bowel with warm, sterile saline dressings

4 = start a peripheral IV

i will also need to
I will also need to...

1 = monitor respirations

2 = wrap the bowel with warm, sterile saline dressings

3 = start a peripheral IV

4 = start antibiotics

5 = all of the above

i will also need to24
I will also need to...

1 = monitor respirations

2 = wrap the bowel with warm, sterile saline dressings

3 = start a peripheral IV

4 = start antibiotics

5 = all of the above

gastroschisis vs omphalocele
Gastroschisis vs Omphalocele
  • We know we have been dealing with gastroschisis, because an omphalocele has intestines covered within a sac.
  • An omphalocele looks more like...
omphalocele
Omphalocele
  • 2 per 10,000 live births
  • Umbilical cord extends from the sac
  • 50 – 75% association with other anomalies
    • Trisomy 13, 18, 21
  • Survival rate variable
    • Depends on underlying conditions
treatment
Treatment
  • Surgical repair
  • “Paint and wait”
bonus question
BONUS Question!!!!!
  • A baby is born with
    • an omphalocele
    • macrosomia
    • a large tongue
  • What laboratory test should we be ordering at this point?
later that night the nurse calls me about a newborn infant
Later that night, the nurse calls me about a newborn infant...
  • “....he coughed and spit up his first feeding ?”
  • “He has lots of secretions coming from his mouth?”
  • “I’ll be right over.”
what should i be thinking
What should I be thinking?
  • Is there an obstruction?
ok lets get a chest and abdominal x ray

OK, lets get a chest and abdominal X-ray

…and pass an orogastric tube first

this baby has
This baby has...

1 = necrotizing enterocolitis

2 = a double-bubble sign

3 = a tracheo-esophageal fistula with esophageal atresia

4 = jejunal atresia

5 = pneumothorax

this baby has46
This baby has...

1 = necrotizing enterocolitis

2 = a double-bubble sign

3 = a tracheo-esophageal fistula with esophageal atresia

4 = jejunal atresia

5 = pneumothorax

what to do next
What to do next?

1 = do a careful exam looking for other anomalies

2 = Use continuous suction to the “pouch”

3 = start a peripheral IV

4 = start antibiotics

5 = all of the above

what to do next48
What to do next?

1 = do a careful exam looking for other anomalies

2 = Use continuous suction to the “pouch”

3 = start a peripheral IV

4 = start antibiotics

5 = all of the above

vacterl association
VACTERL Association
  • Vertebral anomalies (70%)
  • Anal atresia (80%)
  • Cardiac (50%)
  • TracheoEsophageal fistula (70%)
  • Renal anomaly (50%)
  • Limb dysplasia (65%)
vacterl association51
VACTERL Association
  • Unknown etiology
  • Increased risk in infants of diabetic mothers
  • Normal intelligence
  • Treatment depends on affected organs
what a night

What a night!

Has my colleague returned yet?

exstrophy of the bladder b ng quang l ng ai
Exstrophy of the BladderBàng quang lộ ngòai

Inner wall of bladder

Thành trong bàng quang

Dorsal urethra Niệu đạo lưng

Epispadias

Lỗ tiểu ở lưng dương vật

Inguinal hernias

Thóat vị bẹn

Descended testes

Tinh hòan trong bìu

exstrophy of the bladder
Exstrophy of the Bladder
  • 1 per 30,000 live births
  • Male/Female = 2/1
  • Urology evaluation
exstrophy of the bladder57
Exstrophy of the Bladder
  • Cover with clear plastic wrap
    • Protects mucosa
    • Keeps bladder moist
    • Allows urine output
  • Risk of infection is low
    • Antibiotics usually not necessary
disorder of sexual development r i l an ph t tri n sinh d c
Disorder of Sexual DevelopmentRối lọan phát triển sinh dục
  • “Ambiguous Genitalia” – 1 in 5,000
  • Diagnostic evaluation is extensive:
    • Chromosomes
    • Ultrasound anatomy
    • Testosterone, 17-OHP, Electrolytes
      • 21-hydroxylase deficiency – 1 in 14,000
      • Daily electrolytes
what do you tell the parents
What do you tell the parents?
  • Congratulations mom and dad! You have a beautiful baby.
  • It’s a ....

Boy

Girl

?

try this
Try this…
  • “We can’t tell whether your baby is a boy or a girl simply by our exam”
  • “The genitalia are incompletely formed”
  • Show parents exactly what you are describing
slide63
“We will need to do some detailed tests which will take several days.”
  • “In the meantime, it is best not to guess”
  • “Fortunately we have Endocrinologists who can help us. I’ll give them a call right now!”
emphasize all that is normal with the infant

Emphasize all that is normal with the infant

“She has your eyes”

“Look at him wiggling all 10 toes”

myelomeningocele th at v m ng t y
MyelomeningoceleThóat vị màng tủy
  • 0.5-1 in 1000 births
  • Most are in lumbar region
  • Hydrocephalus is common (70%)
  • Chiari II almost always present
myelomeningocele
Myelomeningocele
  • Assess location and size
  • Inspect for leakage of CSF
  • Cover with a sterile, saline-soaked dressing
  • Cover with plastic wrap
  • Place prone or lateral
  • Initiate antibiotics
how soon should this baby have an operation
How soon should this baby have an operation?
  • 1 = Immediately
  • 2 = Must be later today
  • 3 = Within 24–72 hours
  • 4 = After a week
  • 5 = Later this month
how soon should this baby have an operation70
How soon should this baby have an operation?
  • 1 = Immediately
  • 2 = Must be later today
  • 3 = Within 24–72 hours
  • 4 = After a week
  • 5 = Later this month
operative repair of myelomeningocele
Operative repair of myelomeningocele
  • It’s better to do the repair under optimal circumstances
    • Perform a full assessment
    • Neuro-imaging if possible
myelomeningocele72
Myelomeningocele
  • Neurologic evaluation
    • Observe activity
      • Lower extremities
      • Muscle weakness vs paralysis
    • Sensation
    • Reflexes
    • Anocutaneous reflex (anal wink)
amniotic band ng n i
Amniotic BandNgấn ối
  • 1 in 1200-15,000
  • Loose strands of amnion
  • Unilateral
prune belly syndrome h i ch ng b ng qu m n
Prune-Belly SyndromeHội chứng bụng quả mận
  • 4 in 100,000 births
  • Clinical triad:
    • Abdominal muscle deficiency
    • Severe urinary tract abnormalities
    • Bilateral cryptorchidism (tinh hòan ẩn) in males
congenital testicular torsion xo n tinh h an b m sinh
Congenital testicular torsionXoắn tinh hòan bẩm sinh

If surgeons operate immediately, can the testis be saved?

congenital testicular torsion
Congenital testicular torsion
  • Prenatal torsion – No signs of distress
    • Unlikely to save testis
    • Possible risk to contralateral testis
  • Postnatal torsion – Acute distress
    • Emergent operation within six hours
    • 30-40% salvage rates
sturge weber syndrome
Sturge-Weber Syndrome
  • “Port-wine” stain involving forehead
  • Glaucoma
  • At risk for neurologic sequelae
    • Seizures
    • Mental delays
    • Behavioral
trisomy 21
Trisomy 21
  • 1 in 800 births
  • Increased risk with maternal age
    • Age 20 – 1/1700
    • Age 45 – 1/30
  • Mental and developmental delay
other features of trisomy 21
Other features of Trisomy 21
  • Cardiac (~50%) – Endocardial cushion
  • GI (5%) – Duodenal atresia
  • Hematologic –
    • Transient leukemia – 20%
  • Endocrine
    • Hypothyroidism
  • Hearing loss (50%)
trisomy 13
Trisomy 13
  • 1 in 5-10,000 live births
  • Midline abnormalities
    • Cardiac - VSD
    • Aplasia cutis
    • Cleft lip or palate
    • Holoprosencephaly
    • Severe delays
  • Only 1 in 20 survives more than 6 months
trisomy 18
Trisomy 18
  • 1 in 6000 live births
  • Clinical features:
    • Skeletal deformities
    • Small for gestational age
    • Cardiac – VSD
    • Cryptorchidism
  • 90% mortality in first year
congenital syphilis99
Congenital Syphilis
  • Other manifestation:
    • Large placenta
    • Hepatosplenomegaly
    • Jaundice
    • Anemia
    • Rhinitis
    • Metaphyseal abnormalities
congenital syphilis101
Congenital Syphilis
  • Transplacental infection
    • Risk of infection to fetus is ~100% if mother’s infection is untreated
  • 1/3 of infected infants are stillborn
  • 2/3 of live-born do not show symptoms
congenital syphylis
Congenital Syphylis
  • Always determine mother’s serological status
congenital syphilis103
Congenital Syphilis
  • Evaluate all at-risk infants
    • Maternal titer not decreased despite therapy
    • Infant’s titer is 4-fold greater than mother’s
    • All symptomatic infants
    • Maternal syphilis inadequately treated (non PCN)
    • Syphilis treated < 1 month before delivery
congenital cmv infection
Congenital CMV infection
  • Only ~10% are symptomatic at birth
  • Jaundice
  • Hepatosplenomegaly
  • Petechial rash
  • Multi-organ involvement
cystic hygroma
Cystic Hygroma
  • 1 in 10,000
  • Failure of lymphatics to connect with venous system
  • Attention to airway is critical
  • Surgical excision
newborn surprises109
Newborn Surprises

“As a medical student on an OB rotation,

my first baby had hypoplastic left heart,

the second had gastroschisis,

and the third had bladder exstrophy.

I decided not to go into OB.”

~Lonnie Berger, M.D.

Orthopedic Surgeon

slide110

THANK YOU

Pr. Garth Asay

Chair, Division of Neonatal Medicine

Mayo Clinic

slide111

THANK YOU

FOR YOUR ATTENTION