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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 Children’s Prenatal Program. Preparing families & health care systems for babies with conditions diagnosed prenatally. PART I.

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From pregnancy to pediatrics
From Pregnancy to Pediatrics

  • Caring for the Fetal Family


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


Prenatal diagnosis
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
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
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
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
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 care1
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 care2
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
    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!

    Prenatal counseling
    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 counseling1
    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 counseling2
    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
    Prenatal Care Coordination: Delivery Planning


    • Where

    • When

    • How

    • Who

    • Family logistics

    Prenatal care coordination
    Prenatal Care Coordination

    • Unique challenges

      • How to plan for someone who’s 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


    Prenatal care coordination1
    Prenatal Care Coordination


    • Stork Report / forecast tool

    • Weekly teleconference

    • Cord blood tracking

    • Pediatric outcomes letters

    Goals of prenatal diagnosis
    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 carefor severe cases

    DC planning: initiated antenatally

    Ethics dilemmas challenges
    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 challenges1
    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
    Part II

    • Case Studies

    Congenital heart disease
    Congenital Heart Disease


    • 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
    Prenatal Diagnosis & Treatment ProgramCHD: fetal echo referrals to PNC

     fetal indications

     maternal indications

    Prior child with CHD

    Maternal CHD

    Maternal diabetes

    Maternal Lupus or like condition

    Exposures: medications, viral illness

    • Structural anomalies

    • Chromosomal anomalies

    • Arrhythmias

    • Unable to clear heart on routine OB scan

    • Increased NT

    • Hydrops

    Congenital heart disease hlhs
    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
    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 syndrome1
    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 syndrome2
    Case 1: Hypoplastic Left Heart Syndrome

    • Seattle Children’s Prenatal Clinic at 21 +5wks

      • Fetal echocardiogram confirmed dx: HLHS w mitral + aorticatresia

      • 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


        • 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
    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 hlhs1
    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)

    Congenital heart disease hlhs2
    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

    From pregnancy to pediatrics

    Congenital Heart Disease: HLHS

    Basic Cardiac Anatomy

    Hypoplastic Left Heart Syndrome

    Fetal echo hypoplastic left heart hlhs
    Fetal Echo Hypoplastic Left Heart: HLHS

    Case 1 hypoplastic left heart syndrome3
    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 syndrome4
    Case 1: Hypoplastic Left Heart Syndrome


    • Scheduled repeat CS at 39wks at UW


    • 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 syndrome5
    Case 1: Hypoplastic Left Heart Syndrome

    • 4 days: OR modified Norwood w Sano shunt

    • 10days: OR delayed sternal closure

    • 29days: 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
    Case 2: Diaphragmatic Hernia

    OB History

    Healthy 34 yo G2 P1→2

    Soc: married, planned pregnancy, healthy 2yo sibling


    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 hernia1
    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 hernia2
    Case 2: Diaphragmatic Hernia

    24 wk US

    stomach & heart at same level

    Case 2 diaphragmatic hernia3
    Case 2: Diaphragmatic Hernia

    • CDH:

      • incomplete devpt of diaphragm muscle

      • abdominal contents herniate into chest

    • 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 hernia4
    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 hernia5
    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 hernia6
    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 hernia7
    Case 2: Diaphragmatic Hernia

    • Newborn Course

      • 38+3wk delivery by scheduled C/S, BW 3.3 kg

      • High-frequency oscillator

      • Transferred to SCH at 3hrs of life

    Case 2 diaphragmatic hernia8
    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 – first + last day of ECMO

    Case 2 diaphragmatic hernia9
    Case 2: Diaphragmatic Hernia

    Case 2 diaphragmatic hernia pre op post op films
    Case 2: Diaphragmatic Hernia: pre-op + post-op films

    Case 2 diaphragmatic hernia10
    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)- 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 hernia11
    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: abnormalmicroarray 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


    • 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


    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

    Neurodevelopmental outcomes counseling
    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
    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 > 10cm)

      Severe B ventriculomegaly + dilated 3rd V, c/w aqueductal stenosis


    • 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
    Prenatal USSevere ventriculomegaly at 26 + 5wks


    28 mm B ventricles

    Prenatal us normal brain anatomy at 26 3wks
    Prenatal USNormal brain anatomy at 26 + 3wks


    3.7mm left lateral ventricle

    Ndv case progressive ventriculomegaly
    NDV Case: progressive ventriculomegaly


    • 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 ventriculomegaly1
    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 id’d

    • Ophthalmology consult – can be done as out-pt

    • Early Intervention

    • NDV clinic by 3 mo

    • Palliative care if indicated

    Ndv case progressive ventriculomegaly2
    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
    Newborn US: DOL #1

    “Massively dilated lateral ventricles.

    The third ventricle is not dilated. No obvious PF mass.”

    Newborn mri dol 2
    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 ventriculomegaly3
    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