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When the Diagnosis is Unexpected:
The Fetal Diagnostics Program at
Nationwide Children’s Hospital
Becky Corbitt RN, MSN, CNL
Kamil Cak, M.Div., BCC
Course Objectives
• To familiarize the learner with various aspects of the
Fetal Diagnostics Program
• To familiarize the learner with psychological impact
on families going through the program
• To familiarize how family centered care is
incorporated into the program
Disclosures
• We have no perceived financial, professional or
personal conflict of interest
• We are not discussing any off label uses
March of Dimes: Statistics
• In the United States birth defects have been the
leading cause of infant mortality for the past 20
years, accounting for 1 in 5 infant deaths
• 3% of live births in the United States are born with
major birth defects
• Overwhelming amount of stress and anxiety for the
parent/family
Program Goals
• To provide education and support to families who
are expecting a child to be born with a congenital
anomaly
• Optimize maternal & neonatal outcomes
• Promote seamless transition from prenatal to
postnatal care
• Team Approach: Involving all aspects of the health
care team
Nurse and Family Support Coordinator Roles
• Supports the family during the prenatal and neonatal care
• Helps answer questions/concerns
• Provides education about the diagnosis
• Coordinates referrals to pediatric specialists for prenatal consults
• Tours of neonatal intensive care unit
• Social services consult
• Constant communication and coordination of care with all health care members
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Columbus Fetal Medicine Collaborative Columbus Fetal Medicine Collaborative
• Mount Carmel, Ohio Health, Ohio State and Nationwide Children’s have all come together to form one Fetal Center
• To provide optimal outcomes for high risk expectant mothers and their babies with suspected fetal abnormalities
• Addressing the needs of both mother and child with a seamless, integrated approach to services
• Bridges the gap between Maternal Fetal Medicine specialists and pediatric specialists at Children’s
• Creates a more efficient way to handle complex patients
• Marketing strategy promote program
• Research opportunities
Comprehensive Range of Specialists
Columbus Fetal Medicine Collaborative
� Maternal Fetal Medicine
� Pediatric Surgery
� Cardiology
� Cardiothoracic Surgery
� Neonatology
� Neurosurgery
� Craniofacial Surgery
� Neurology
� Clinical Genetics
� Urology
� Hospice and Palliative Care
� Otolaryngology
� Orthopedics
� Comprehensive care for Myelomeningocele
• Pediatric specialist will discuss the fetal diagnosis, anticipated recovery, and potential outcomes with families during the prenatal consult
1-866-978-CFMC (2362)
Website: ColumbusFetalMedicine.org
patient information and referring process
Ability to use teleconference to discuss complex cases and
monthly case conferences
Columbus Fetal Medicine Collaborative
Technology: The wave to the future in Fetal Medicine
Fetal MRI
Fetal ECHO
Level 2 Ultrasound
• Technology has helped
to diagnose defects
prenatally.
Common Fetal Diagnoses
• Abdominal wall defects including Gastroschisis, omphalocele, cloacal exstrophy
• Lung malformations (CCAM and pulmonary sequestration)
• Congenital diaphragmatic hernia
• Congenital anomalies of the central nervous system including neural tube defects, hydrocephalus
• Congenital anomalies of the face: cleft lip and palate
• Orthopedic anomalies: club feet,
• Urologic anomalies
• Genetic and metabolic diseases and disorders
• Congenital heart defects
• Congenital intestinal anomalies
• Skeletal dysplasias
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Information
Positive/negative
FinancialStressors
Emotional/
Psycho-social
Stressors
Support System
Positive/
Negative
Heath Care Continuum
FamilyFamilyFamilyFamily&&&&
UncertaintyUncertaintyUncertaintyUncertainty
Physical/HealthStressors
Psychosocial Aspects of Care Financial Impact
• Out of pocket medical bills
• Insurance coverage issues
• Transportation costs
• Child care expenses
• Loss of income or loss of job due to time off work
To assist with financial challenges
• Schedule appts on days that are best for pt’s life
• Consolidate appts for fewer trips
• Refer to local social service agencies
Resources for Families
• Welcome Center
• Ronald McDonald House
• Family Resource Center
• Club House
• NCH Library
• Chapel
• Social Workers and Case Managers
• Chaplains
• Parent Advisors
Stages of Grief: Kubler-Ross
• Intended for the processing of one’s own death
• Denial (This isn't happening to me!)
• Anger (Why is this happening to me?)
• Bargaining (I promise I'll be a better person if...)
• Depression (I don't care anymore.)
• Acceptance (I'm ready for whatever comes.)
The Search for Meaning and Stages of Grief
• Illness leads to a search for existential meaning
• Prior to illness:
• Good things happen to good people
• Bad things happen to bad people
• Bad things sometimes happen to good people,
but they happen to someone else
• Therefore, illness is initially met with denial
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Denial
• “This is not really happening to me”
• “They have the diagnosis wrong”
• “God will perform a miracle and heal my baby”
• If a miracle occurred, the patient could return to her
prior schema and regain a sense of meaning
• Denial prevents patients from hearing
• Expressed by not coming to appointments or not
wanting to talk about the problem
• Not the time to educate and talk at, but to support
and listen
The Search for Meaning and Stages of Grief
• Over time, the diagnosis keeps getting confirmed
• The patient’s task: To reconfigure her schema and
belief system to accommodate the new, devastating
variable
• This leads to anger, bargaining and depression
Anger
• Expressed in different ways (being rude, tearful,
silent, lack of eye contact…)
• Directed at the nearest target
• Often misunderstood by the recipient
Bargaining
• “If I am a better mother and do something different
in my life, I can fix this”
• Expressed by questions about what they can do to
make this better
• Responses should make them feel empowered in
this situation that they have little control over
Depression
• Watch for signs of depression
• Normalize the situation
• Encourage them to seek professional help
How Do We Facilitate the Search for Meaning?
• We do nothing
• Facilitating requires our being, not doing
• Don’t attempt to propel the person into acceptance
• Create a sacred space where the patient can feel
comfortable to express a range of feelings, reactions,
and thoughts and thus move toward acceptance
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Acceptance
• Happens when the person has, in some form,
integrated the new reality (sometimes it doesn’t
happen)
• Give time to get closer to this stage before offering
intense education, consults and plans
• Affirm the patient for getting to this stage
Factors that affect coping
• Maternal age and parity
• Support network
• Family Dynamics
• Culture, spirituality and religion
• Language Barriers
Case Presentation
CASE 1: Congenital Diaphragmatic Hernia
• 27 years old G1
• Referred to Maternal Fetal Medicine Specialist At 20
weeks gestation due to suspected congenital
diaphragmatic hernia (CDH)
• Level 2 Ultrasound performed and confirmed
diagnosis
Congenital Diaphragmatic Hernia Congenital Diaphragmatic Hernia
• Incidence: 1 in 2500-5000 live births
• Embryology: failure of the pleuroperitoneal canal to close at 9-10 weeks gestation resulting in herniation of abdominal organs into the chest
• Most defects occur on the left side
• Etiology unknown
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Pregnancy Management
• Detailed Level 2 ultrasound
– Presence of liver and stomach in chest and
polyhydramnios generally associated with worse
prognosis
• Fetal echocardiogram ~15% risk for congenital heart
defects
• Fetal MRI performed to confirm diagnosis
– Head to lung ratio used to predict outcome
Pregnancy Management
• Amniocentesis for fetal karyotype
– 10-20% have chromosome abnormalities (Down Syndrome, Trisomy 13, Trisomy 18)
• Close monitoring throughout pregnancy due to increased risk for fetal demise
• Referral to Nationwide Children’s Hospital for prenatal consults with Pediatric Surgery and Neonatology
– Discuss fetal diagnosis, treatment options, anticipated recovery and outcomes.
Prognosis
• Increased risk for fetal demise, stillbirth
• Clinical course and survival depends largely on
degree of pulmonary hypoplasia
• Degree of pulmonary hypoplasia dependent on
timing, volume, and duration of herniation
• Survival Rate is between 50-75% even with optimal
management
Delivery
• Delivery at tertiary care center
• Cesarean section not indicated unless Obstetric decision
• No data to support elective pre-term delivery but induction of labor allows planned delivery
– Especially for families that live out of town
Planned delivery to increase chances of survival
• After delivery and Initial Stabilization: Immediate transfer to Nationwide Children’s Hospital
CDH: Surgical Repair
• Surgeons allow for stabilization of the infant before
surgical repair. Improves overall outcome
• It is not an emergency for CDH repair. It is an
emergency to get the lungs to work
• May be days to weeks until surgical repair
CDH Case Study
• Long term follow up:
GERD
Dysmotility and Feeding problems-May require GT
Chronic lung disease: May require Trach
Cognitive deficits, seizures
• Outcomes
50-75% survival rate
Clinical course and survival depends largely on degree of
pulmonary hypoplasia.
increased mortality in cases with associated cardiac and
renal abnormalities.
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Providing Breast Milk
�Educate families about the benefits of providing
breast milk.
�Key to talk about providing breast milk prenatally
because mothers usually change their minds.
CASE 1: CDH
• Amniocentesis performed at initial visit
46,XX
• Fetal echocardiogram at 21 weeks
Normal fetal heart
• Prenatal Consult with Pediatric Surgery and
Neonatology @ 21 weeks
Psychosocial Impact
• Decision about pregnancy
• Religious issues
• Family Support
• Relationship issues
• Styles of coping
• Financial
CDH Case Study
• Admitted to Nationwide Children’s Hospital on
9/16/2009
• Operating Room on 9/20/2009. Baby recovered
beautifully
• Discharged home on 10/15/2009
• Close Follow up in Outpatient clinic with the
Pediatric Surgeon
• Close follow up with primary pediatrician
Family Centered Care: Family Interviews
1. How did you feel when you received information
about your unborn baby’s diagnosis?
2. How did the Fetal Diagnostics Program at
Nationwide Children’s Hospital help prepare you for
what to expect?
3. How did the program help you while your baby was
at Nationwide Children’s Hospital?
4. What message would you pass on to incoming
families?
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