From%20Pregnancy%20to%20Pediatrics

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From Pregnancy to Pediatrics

• Caring for the Fetal Family

NAPNAP WA State Annual Continuing Ed
Meeting March 11, 2013
Lani Wolfe, ARNP Seattle Childrens Prenatal
Program
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PART I

• Preparing families health care systems
• for babies with conditions
• diagnosed prenatally

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The backstory behind the baby you meet
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Prenatal Diagnosis

• The goal of prenatal diagnosis is the near-term
  delivery of a nonhydropic infant whose postnatal
  management is anticipated
• - Cuneo, Bettina 2006. Outcome of fetal
  cardiac defects.
• Current Opinion in Pediatrics, 18490-496

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Fetal Care Programs

• Program components vary by institution
• Seattle Childrens opened in 2007 a
• Prenatal Diagnosis Treatment Program
  
• Formalized, thoughtful approach to the needs of
  families with prenatally diagnosed congenital
  anomalies

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Prenatal Diagnosis Treatment Program

• Accurate diagnosis
• Ultrasound
• Echocardiogram
• MRI
• Genetic testing
• Counseling - OB pediatric specialists
• Care coordination
• Fetal Intervention at Seattle Childrens
  partner institutions
• Medication for cardiac arrhythmias
• Fetal bladder taps/ vesicoamniotic shunts
• EXIT procedures for airway management

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Prenatally Diagnosed Condition groups ( of
prenatal pts at SCH)

• Congenital heart disease (60)
• - structural
• - arrhythmias
• Neurodevelopmental (15)
• - neural tube defects
• - intracranial anomalies
• General surgical conditions (15)
• - abdominal wall defects
• - congenital diaphragmatic hernia
• - bowel atresias
• - congenital lung lesions

• Urologic/ Nephrologic conditions
• Chromosome anomalies
• Craniofacial skeletal

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Prenatal Obstetric Care

• ACOG American College of Obstetrics Gynecology
• Guidelines for prenatal care
• Women who receive early and regular prenatal
  care are more likely to have
  healthier infants
• specifics of care vary
• Major birth defects 2-5 live births
• Aim to ID risk factors for poor outcomes
• a significant of intrapartum neonatal
  problems occur among pts without identified
  antenatal risk factors.
• the case for most of your patients

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Prenatal Obstetric Care

• Antepartum surveillance recommended for all
• HCT/ Hgb, blood group, antibody screen, Rubella
  immunity, infectious screen, UA, cervical
  cytology, diabetes screening, CF
• If seek care lt20wks offer screening for
  aneuploidy
• Serum screening /- NT /- 20w marker US
  (combined , triple, quad)
• Offers composite risk for T-13, T-18, T-21 ONTD
• All women, regardless of age, should have the
  option of invasive prenatal diagnosis for fetal
  aneuploidy (CVS or amnio)

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Prenatal Obstetric Care

• Ultrasound no official standard for low risk pts
• only when there is a valid medical indication
  for exam.
• Typical at major medical and academic centers
• Viability / dating 8-10wks
• Anatomy scan at 18-20 wks
• Additionally as needed
• Size / date mismatch
• Abnormal or incomplete initial exam

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Influences on Fetal Health

• Genetics
• Maternal health environment
• Diabetes, Lupus /Sjögren's
• Congenital heart disease
• Other chronic or heritable conditions
• Medications
• Pregnancy induced hypertension
• Infection
• Uterine environment
• Amniotic fluid volume, infection, multiple
  gestation
• Placenta cord
• location, quality, cord insertion
• A beast of its own respect the placenta!

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Prenatal Counseling

• Understanding the maternal / familial state
• All influence decisions re pregnancy mgmnt
  level of neonatal intervention
• Age/ stage teen -- elderly primigravida (AMA)
• Profession health care provider, special ed
  teacher, military
• Planned ART, last sperm banked FOB w testicular
  CA
• Unplanned using contraception, post vasectomy
  or BTL
• Geography
• regional factors (local communities, mountain
  passes)
• country of origin, resources / societal attitudes

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Prenatal Counseling

• Cornerstone of the program is unified message and
  plan between pediatrics OB bridging the gap
• Preparing the family
• Diagnosis
• Prognosis
• Neonatal lifespan experience
• Multidisciplinary input
• Management options available
• Emotional support
• Logistic planning

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Prenatal Counseling

• ? Families are parenting already
• ?Walk with families down whatever path
• they can make most peace with
• ? Its ok to share hope rather than crush it

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Prenatal Care Coordination Delivery Planning

• Delivery
• Where
• When
• How
• Who
• Family logistics

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Prenatal Care Coordination

• Unique challenges
• How to plan for someone whos not here yet?
• No medical record ??
• Origins of fetal care coordination
• Ensuring prenatal work is shared in the neonatal
  period
• provider to provider communication
• bridging the gap between obstetrics and
  pediatrics
• SURPRISE!

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Prenatal Care Coordination

• Communication
• Stork Report / forecast tool
• Weekly teleconference
• Cord blood tracking
• Pediatric outcomes letters

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Stork Report in action!
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Goals of Prenatal Diagnosis

• Improved outcomes
• Family logistics
• Emotional preparedness families who have already
  begun the grieving process are better prepared to
  engage with the baby care process.
• Possibly even better aligned as couples
• Health outcomes
• Neonatal palliative care for severe cases
• DC planning initiated antenatally

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Ethics, Dilemmas, Challenges

• Dilemmas for families
• Pregnancy decision-making (up to 24 wks in WA)
• Discordant twins
• Location of care out of state options
• Discordant beliefs within the family
• Full neonatal intervention or comfort care?
• Inadequate information
• Limitations of fetal diagnostic technology
• Encourage families to consider most likely
  outcome in their decision making.

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Ethics, Dilemmas, Challenges

• Dilemmas for providers
• Do we adequately capture the essence? Can we?
• Do families have what they need to make their
  decisions?
• Counseling to be or not be neutral?
• what would you do?
• Parents will always want the right to make
  decisions but not always the responsibility.
• David Woodrum, MD

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Part II

• Case Studies

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Congenital Heart Disease

• CHD
• Structural CHD most common congenital anomaly
  group
• 1 of live births are affected
• In USA 32,000/yr births with CHD -- 1400/yr in
  WAMI region
• ? risk recurrence to 2-3 after an affected
  pregnancy
• Fetal echocardiogram is mainstay of prenatal
  diagnosis
• As early as 14wks, with completion at gt 18wks

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Prenatal Diagnosis Treatment ProgramCHD fetal
echo referrals to PNC

• ? fetal indications

• ? maternal indications

• Structural anomalies
• Chromosomal anomalies
• Arrhythmias
• Unable to clear heart on routine OB scan
• Increased NT
• Hydrops

• Prior child with CHD
• Maternal CHD
• Maternal diabetes
• Maternal Lupus or like condition
• Exposures medications, viral illness

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Congenital Heart Disease HLHS

• Several studies comparing the experience of pre /
  post natal diagnosis of HLHS have found
• ? less preoperative acidosis in the prenatally
  diagnosed groups
• ? improved survival to surgery
• ? no differences in post-operative mortality
  and survival
• study fewer adverse perioperative neurologic
  events
• ? Rich area of research long term
  neurodevelopmental outcomes
• impact of prenatal diagnosis

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Case 1 Hypoplastic Left Heart Syndrome

• OB History 32 yo G3 P2?3
• 1 prior term vaginal delivery term CS for
  NRFHT
• Healthy 14yo 7yo
• PMHx HTN Rxd meds x 1yr, dcd with pregnancy
  test
• FMHx No congenital anomalies
• Social Hx Pt husband active duty military
• Husband in Afghanistan most of pregnancy

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Case 1 Hypoplastic Left Heart Syndrome

• Prenatal Course
• Late to care at 18wks irregular menses, had not
  realized pregnant
• Declined serum screening
• 20wk anatomy scan
• hypoplastic left heart syndrome
• o/w normal fetal growth, amniotic fluid, anatomy
• Declined amniocentesis

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Case 1 Hypoplastic Left Heart Syndrome

• Seattle Childrens Prenatal Clinic at 21 5wks
• Fetal echocardiogram confirmed dx HLHS w mitral
  aortic atresia
• US o/w normal fetal growth, amniotic fluid,
  anatomy
• Mildly elevated BP
• Thorough counseling cardiology MFM combined
• Offered range of pregnancy management options
• Opted for pregnancy continuation
• Joint OB management w local MFM UW
• Plan
• serial fetal echo US f/u for remainder of
  pregnancy
• UW delivery by repeat CS at 39wks
• expeditious neonatal transfer to SCH

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Hypoplastic Left Heart Syndrome HLHS

• Spectrum of disease, accounts for 1 of CHD
• 20x/yr evaluated at SCH Prenatal Clinic
• HLHS unbalanced AV canal, heterotaxy, HRHS,
  other single ventricle
• Features
• Hypoplastic left heart structures
• Cause unknown
• Usually tolerated well in utero
• Post-natal ?PVR ductus closure ?
• ?systemic cardiac output ? shock metabolic
  acidosis

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Congenital Heart Disease HLHS

• Surgical palliation now standard of care
• Single ventricle surgical pathway
• Staged procedures to ultimately separate red /
  blue circulation
• Relies on the single ventricle as systemic
  pumping chamber
• Relies on passive pulmonary blood flow
• Systemic venous return bypasses heart, flows
  passively to lungs
• Norwood 7-10 days (RV-PA shunt, aortic arch
  reconstruxn, atrial septectomy)
• Glenn 4-6 months (SVC-PA)
• Fontan 3-5 years (IVC-PA)

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Congenital Heart Disease HLHS

• Counsel severe, complex structural heart disease
• Surgical palliation is not repair
• Intense first few yrs consistent caregiver at
  home ideal
• Morbidity, mortality with surgery inter- stage
• Neurocognitive impacts
• Lifelong cardiology f/u
• Many do very well, school activities
• ? ventricle fxn over time (late teens, early
  20s) transplant
• Conditions with abnormal lungs or pulmonary vasc
  may preclude the single ventricle pathway
• not a candidate for ultimate Fontan completion
• may not be offered a surgical option neonatally

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Congenital Heart Disease HLHS
Basic Cardiac Anatomy
Hypoplastic Left Heart Syndrome
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Fetal Echo Hypoplastic Left Heart HLHS
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Case 1 Hypoplastic Left Heart Syndrome

• High risk pregnancies medically complex
  children take a toll on families.
• Impact for this dual-military family
• Frequent communication w commanding officers for
  both parents
• Pt single-parented and worked full time until
  delivery
• Required permission (not granted) to wear tennis
  shoes
• Dad returned from Afghanistan 1 week before
  scheduled CS
• Achieved commitment to staying stateside
  indefinitely thereafter

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Case 1 Hypoplastic Left Heart Syndrome

• Delivery
• Scheduled repeat CS at 39wks at UW
• Newborn
• BW 3129g
• Apgars 3 (1min) 6 (5min)
• Limp, poor resp effort, low 02 sats
• Stim, PPV, CPAP
• PGE infusion
• Transferred to SCH within 4hrs

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Case 1 Hypoplastic Left Heart Syndrome

• 4 days OR modified Norwood w Sano shunt
• 10days OR delayed sternal closure
• 29days DCd home on nc oxygen, NG feeds sat
  monitor
• Frequent cardiology PCP f/u
• 5 months Glenn patch repair of PAsaaorta
• Post-procedure cardiac arrest, CPR, prolonged
  intubation in CICU
• Cath stents placed in LPA portion of aorta
• Hospitalized nearly 2 months (pulm HTN, opiate
  wean)
• Readmitted x1 for diuretic adjustment
• Borderline decreased RV function

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Case 2 Diaphragmatic Hernia

• OB History
• Healthy 34 yo G2 P1?2
• Soc married, planned pregnancy, healthy 2yo
  sibling
• FMHx
• FOBs younger brother - congenital diaphragmatic
  hernia
• - died at 1 wk of life, no other anomalies
• FOBs older brother - neonatal death, etiology
  unknown

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Case 2 Diaphragmatic Hernia

• Prenatal Course
• Declined prenatal serum screening
• 20wks anatomy scan left diaphragmatic hernia
• Stomach ? in left chest
• Liver ? in abdomen
• LHR 1.1
• Heart shifted right
• High normal amniotic fluid
• o/w normal fetal growth anatomy
• Amniocentesis normal karyotype, 46XY, declined
  microarray

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Case 2 Diaphragmatic Hernia
24 wk US stomach heart at same level
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Case 2 Diaphragmatic Hernia

• CDH
• incomplete devpt of diaphragm muscle
• abdominal contents herniate into chest
• Occurs early (4-8wks GA), during formation of
  diaphragm
• 14000 live births (13000 pregnancy, IUFD, TOP)
• Etiology unknown
• Pulm hypoplasia pulm HTN are hallmarks
• 80 L sided, prognosis worse for R sided
• 15-25 have associated anomalies

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Case 2 Diaphragmatic Hernia

• CDH prenatal detection rate 60
• Predictors of outcome survival need for ECMO
• Liver position is most important prognostic
  factor across studies
• lung volume estimates
• Liver ? LHR gt1.4 most favorable outcomes
  (25 cases)
• Liver ? LHR lt1.0 worst outcomes (25 cases)
• Predictors of lung volume
• Lung to Head Ratio (LHR) by US
• MRI institution dependent expertise
• 3D US

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Case 2 Diaphragmatic Hernia

• UCSF Fetal Treatment Ctr at 23 3wks
• Liver ? in chest
• LHR 0.9
• Mild polyhydramnios (AFI 22.9cm)
• Normal fetal echo
• Normal growth, no other structural anomalies
• fetal tracheal occlusion was offered
• Fetal intervention criteria at UCSF
• LHR lt 1 ( liver up)
• Normal karyotype
• lt28 wks
• No other anomalies or maternal contraindications

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Case 2 Diaphragmatic Hernia

• Seattle Childrens Prenatal Clinic
• Consult pediatric surgeon fetal echocardiogram
• Close OB monitoring
• LHR stable, improved 1.2-1.4
• steadily increasing AFI up to 50cm (double
  normal)
• amnioreduction offered
• Declined offer for tracheal occlusion at UCSF
• Family Preparation
• 2 hospital tours included older sibling
• CDH support group linked w families thru Parent
  Support Program
• Neonatology social work consultations

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Case 2 Diaphragmatic Hernia

• Newborn Course
• 383wk delivery by scheduled C/S, BW 3.3 kg
• High-frequency oscillator
• Transferred to SCH at 3hrs of life

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Case 2 Diaphragmatic Hernia

• Worsening blood gases pulmonary HTN
• Oscillator inhaled Nitrous Oxide
• ECMO on DOL 3 x 14 days
• Patch repair of extremely large CHD on DOL
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• diaphragm was essentially almost nonexistent
• Gore-Tex Marlex patch
• Left lobe of the liver stomach bowel in left
  chest

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Case 2 Diaphragmatic Hernia first last day
of ECMO
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Case 2 Diaphragmatic Hernia
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Case 2 Diaphragmatic Hernia pre-op post-op
films
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Case 2 Diaphragmatic Hernia

• Post-Op Course
• POD 16 Extubated to CPAP, then to nasal
  cannula
• Age 7.5wks off TPN, full enteral feeds,
  fortified BM via ND tube
• 2 months (62days)- DCd home
• Oxygen by nasal cannula (0.2 Lpm)
• NG feeds small volume PO training
• Meds oral sildenafil, PPI, Reglan, clonidine
• Age 1 yr
• 9mo- Pulm HTN resolved, O2 Sildenafil DCd
• All PO, growing developing well, active
• No significant respiratory illnesses
• No re-admissions to the hospital
• Mild URIs have not required oxygen since it was
  DCd

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Case 2 Diaphragmatic Hernia

• 2yr f/u
• Off O2
• Off all meds
• Gen Surg
• looks absolutely fantastic! (surgeon)
• Pulm bronchitis x2, albuterol w URIs, sats 100
  RA
• Cardiology nml, pulm HTN resolved
• Orthopedics no apparent scoliosis, annual f/u
• Audiology nml hearing, f/u 6 mo
• Devpt nml growth, devpt, energy, activity w
  peers/sib, lang/ cognitive
• Genetics abnormal microarray pt FOB FOBs
  dad, sib -

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Neurodevelopmental

• Neural tube defects spina bifida
• Brain differences
• Agenesis of the corpus callosum
• Cerebellar vermis hypoplasia
• Ventriculomegaly
• Holoprosencephaly
• Encephaloceles

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Neurodevelopmental

• NTD
• lesion level impacts anticipated LE mobility
  (walking)
• o/w uniform likelihood of impact on bowel,
  bladder, cognition, need for shunt
• gt80 need shunt if neonatal repair, less for
  fetal repair
• US margin for error identifying lesion level
• Fetal surgery MOMS trial

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Neurodevelopmental

• Counseling anticipated NDV outcomes for other
  lesions
• Limited research on fetal imaging differences
  correlated with long term f/u of NDV outcomes
• Emphasize consideration of the most likely
  outcome
• Impact on individual household
• Resources available
• Concept of risk tolerance
• risk of continuing a pregnancy with abnormal NDV
  outcome
• risk of terminating a pregnancy with normal NDV
  outcome

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Neurodevelopmental outcomes counseling

• Mild
• Likely to achieve milestones, w some mild delays
• May need assistance in some areas
• Likely to blend w typical population
• Independent in adulthood
• Moderate
• Likely to achieve delayed milestones
• Likely to need developmental assistance / therapy
• Unlikely to blend entirely w typical population
• Unlikely independent in adulthood
• Severe
• Does not progress beyond infant stage
• Total care assistance thru lifespan

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Case 3 progressive ventriculomegaly

• 33yo G3 P1011
• son w CAH gene mutation
• FMHx FOB m-half sister w epilepsy, o/w no DD/
  hydroceph
• Amnio 46XY normal male karyotype
• 18w US prominent ventricles 9.1mm (upper nml),
  CSP nws
• 21w US ventricles 15mm (high), enlarged 3rd
  vent, CSP nws
• 26w US ventricles 28mm
• 30w US ventricles 28-29mm large BPD (11cm gt
  10cm)
• Severe B ventriculomegaly dilated 3rd V, c/w
  aqueductal stenosis

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Neurodevelopmental

• Ventriculomegaly enlarged fluid spaces within
  the brain.
• caused by
• Obstruction to usual CSF circulation
• Abnormal brain tissue development
• Loss of brain tissue due to infection or stroke /
  hypoxic insult
• Hydrocephalus extra fluid in / around the
  brain, causing symptoms related to
  pressure on the brain.

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Prenatal USSevere ventriculomegaly at 26 5wks
profile
28 mm B ventricles
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Prenatal USNormal brain anatomy at 26 3wks
profile
3.7mm left lateral ventricle
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Fetal MRI 21 wks normal exam
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NDV Case progressive ventriculomegaly

• Counseled
• Very low chance for typical development
• Significant chance of mod-severe developmental
  impact
• assistance similar to that needed for elementary
  aged child
• total care for most severe (feeding/ mobility,
  ADLs)
• Likely to require CSF diversion (VP shunt or 3rd
  ventriculostomy)
• Cesarean delivery due to large BPD

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NDV Case progressive ventriculomegaly

• Recommended post-natal diagnostic w/u
• Complete neonatal PE w neuro exam by pediatrician
• Hydrocephalus monitoring
• cranial US, daily OFC in-pt, weekly OFC out-pt,
  s/s
• Unsedated brain MRI within 1 wk
• Genetics SNP array, L1CAM, creatine kinase, DNA
  banking
• Genetics consult if other anomalies idd
• Ophthalmology consult can be done as out-pt
• Early Intervention
• NDV clinic by 3 mo
• Palliative care if indicated

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NDV Case progressive ventriculomegaly

• TOP declined
• Cephalocentesis for vaginal delivery declined
• Delivery LTCS at 39 3wks
• Maternal hypertensive crisis prior to delivery
• BW 4075g (87tile)
• Cord blood sent for genetic w/u (CGH, L1CAM, CAH)
• Apgars 6 8? poor resp effort 02, PPV, CPAP,
  ultimately ET tube
• Transferred to SCH on DOL 5
• VP shunt DOL 6, DCd home at 17days

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Newborn US DOL 1
Massively dilated lateral ventricles. The third
ventricle is not dilated. No obvious PF mass.
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Newborn MRI DOL 2
Marked enlargement of lateral third ventricle
w associated severe thinning of the overlying
cortexcerebral aqueduct appears diffusely narrow
in caliber post fossa is relatively normal in
appearance Severe hydrocephalus w massive
distension of the lateral ventricles suggestive
of aqueductal stenosis.
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NDV Case progressive ventriculomegaly

• At 2 mo NDV Clinic f/u
• L1CAM testing , CAH
• PO well from bottle, good wt gain (wt 25, HC
  gt98)
• No h/o sz activity
• Alert, calms to familiar faces, slow tracking,
  not bringing items midline, hands clenched
  continuously, alternates floppy/stiff tone
• Slightly ? head control
• Overall increased tone some motor delay
• Early Intervention referral made
• Shunt leak / infection at 3mo externalized,
  Rxd, internalized

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Lani.wolfe_at_seattlechildrens.org