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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?