From Pregnancy to Pediatrics
Caring for the Fetal Family
NAPNAP
WA State Annual Continuing Ed Meeting
March 11, 2013
Lani Wolfe, ARNP
Seattle Children’s Prenatal Program
PART I
Preparing families & health care systems
for babies with conditions
diagnosed prenatally
The backstory behind the baby you meet…
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, 18:490-496
Fetal Care Programs
• Program components vary by institution
• Seattle Children’s opened in 2007 a
Prenatal Diagnosis & Treatment Program
• Formalized, thoughtful approach to the needs of
families with prenatally diagnosed congenital anomalies
Prenatal Diagnosis & Treatment Program
• Accurate diagnosis
• Ultrasound
• Echocardiogram
• MRI
• Genetic testing
• Counseling - OB + pediatric specialists
• Care coordination
• Fetal Intervention at Seattle Children’s + partner institutions
• Medication for cardiac arrhythmias
• Fetal bladder taps/ vesicoamniotic shunts
• EXIT procedures for airway management
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
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
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 <20wks: 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)
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
Influences on Fetal Health What causes it?
• Genetics
• Maternal health environment:
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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!
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
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
Prenatal Counseling
 Families are parenting already
Walk with families down whatever path
they can make most peace with
 It’s ok to share hope rather than crush it
Prenatal Care Coordination: Delivery Planning
Delivery
• Where
• When
• How
• Who
• Family logistics
Prenatal Care Coordination
• Unique challenges
• How to plan for someone who’s not here yet?
• No medical record #??
• Origins of fetal care coordination
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Ensuring prenatal work is shared in the neonatal period:
provider to provider communication
bridging the gap between obstetrics and pediatrics
SURPRISE!
Prenatal Care Coordination
Communication
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Stork Report / forecast tool
Weekly teleconference
Cord blood tracking
Pediatric outcomes letters
Stork Report in action!
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
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.
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
Part II
Case Studies
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 > 18wks
Prenatal Diagnosis & Treatment Program
CHD: fetal echo referrals to PNC
 fetal indications
 maternal indications
• Structural anomalies
• Prior child with CHD
• Chromosomal
• Maternal CHD
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anomalies
Arrhythmias
Unable to clear heart
on routine OB scan
Increased NT
Hydrops
• Maternal diabetes
• Maternal Lupus or
like condition
• Exposures:
medications,
viral illness
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
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 – Rx’d meds x 1yr, dc’d with pregnancy test
FMHx:
No congenital anomalies
Social Hx:
Pt & husband active duty military
Husband in Afghanistan most of pregnancy
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
Case 1:
Hypoplastic Left Heart Syndrome
• Seattle Children’s 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
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
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
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Norwood:
Glenn:
Fontan:
7-10 days
4-6 months
3-5 years
(RV-PA shunt, aortic arch reconstruxn, atrial septectomy)
(SVC-PA)
(IVC-PA)
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 20’s): 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
Congenital Heart Disease: HLHS
Basic Cardiac Anatomy
Hypoplastic Left Heart Syndrome
Fetal Echo
Hypoplastic Left Heart: HLHS
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
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
Case 1:
Hypoplastic Left Heart Syndrome
• 4 days:
• 10days:
• 29days:
OR modified Norwood w Sano shunt
OR delayed sternal closure
DC’d home on nc oxygen, NG feeds + sat monitor
• Frequent cardiology + PCP f/u
• 5 months: Glenn + patch repair of PAs+aaorta
• 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
Case 2:
Diaphragmatic Hernia
OB History
Healthy 34 yo
G2
P1→2
Soc: married, planned pregnancy, healthy 2yo sibling
FMHx
FOB’s younger brother - congenital diaphragmatic hernia
- died at 1 wk of life, no other anomalies
FOB’s older brother
- neonatal death, etiology unknown
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
Case 2:
Diaphragmatic Hernia
24 wk US
stomach & heart at same level
Case 2:
Diaphragmatic Hernia
• CDH:
• incomplete devpt of diaphragm muscle
• abdominal contents herniate into chest
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Occurs early (4-8wks GA), during formation of diaphragm
1:4000 live births (1:3000 pregnancy, IUFD, TOP)
Etiology unknown
Pulm hypoplasia + pulm HTN are hallmarks
80% L sided, prognosis worse for R sided
15-25% have associated anomalies
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 >1.4 = most favorable outcomes (~25% cases)
• Liver ↑ + LHR <1.0 = worst outcomes (~25% cases)
• Predictors of lung volume
• Lung to Head Ratio (LHR) by US
• MRI – institution dependent expertise
• 3D US
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 < 1 (+ liver up)
• Normal karyotype
• <28 wks
• No other anomalies or maternal contraindications
Case 2:
Diaphragmatic Hernia
Seattle Children’s 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
Case 2:
Diaphragmatic Hernia
• Newborn Course
• 38+3wk delivery by scheduled C/S,
• High-frequency oscillator
• Transferred to SCH at 3hrs of life
BW 3.3 kg
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 # 23
• “diaphragm was essentially almost nonexistent”
• Gore-Tex + Marlex patch
• Left lobe of the liver + stomach + bowel in left chest
Case 2:
Diaphragmatic Hernia – first + last day of ECMO
Case 2:
Diaphragmatic Hernia
Case 2:
Diaphragmatic Hernia: pre-op + post-op films
Case 2:
Diaphragmatic Hernia
Post-Op Course:
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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)- DC’d 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 DC’d
• 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 DC’d
Case 2:
Diaphragmatic Hernia
2yr f/u:
• Off O2
• Off all meds
• Gen Surg:
• “looks absolutely fantastic!” (surgeon)
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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 + FOB’s dad, sib -
Neurodevelopmental
• Neural tube defects: spina bifida
• Brain differences:
• Agenesis of the corpus callosum
• Cerebellar vermis hypoplasia
• Ventriculomegaly
• Holoprosencephaly
• Encephaloceles
Neurodevelopmental
• NTD:
• lesion level impacts anticipated LE mobility (walking)
• o/w uniform likelihood of impact on bowel, bladder, cognition,
need for shunt
• >80% need shunt if neonatal repair, less for fetal repair
• US margin for error identifying lesion level
• Fetal surgery – MOMS trial
Neurodevelopmental
Counseling anticipated NDV outcomes for other lesions
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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
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
Case 3: progressive ventriculomegaly
• 33yo G3 P1011
• son w CAH + gene mutation
• FMHx: FOB m-half sister w epilepsy, o/w no DD/ hydroceph
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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 > 10cm)
Severe B ventriculomegaly + dilated 3rd V, c/w aqueductal stenosis
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.
Prenatal US
Severe ventriculomegaly at 26 + 5wks
28 mm B ventricles
profile
Prenatal US
Normal brain anatomy at 26 + 3wks
3.7mm left lateral ventricle
profile
Fetal MRI – 21 wks: normal exam
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
NDV Case: progressive ventriculomegaly
Recommended post-natal diagnostic w/u:
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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 id’d
Ophthalmology consult – can be done as out-pt
Early Intervention
NDV clinic by 3 mo
Palliative care if indicated
NDV Case: progressive ventriculomegaly
• TOP declined
• Cephalocentesis for vaginal delivery declined
• Delivery: LTCS at 39 + 3wks
• Maternal hypertensive crisis prior to delivery
• BW 4075g (87%tile)
• 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, DC’d home at 17days
Newborn US: DOL #1
“Massively dilated lateral ventricles.
The third ventricle is not dilated. No obvious PF mass.”
Newborn MRI: DOL #2
“Marked enlargement of lateral & third ventricle w associated severe thinning of
the overlying cortex…cerebral 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.”
NDV Case: progressive ventriculomegaly
At 2 mo NDV Clinic f/u
• L1CAM testing +, CAH –
• PO well from bottle, good wt gain (wt 25%, HC >98%)
• 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, Rx’d, internalized
Lani.wolfe@seattlechildrens.org