Transcript Perfectly Imperfect Overview Of Human Malformations

Perfectly Imperfect: An
Overview of Human
Malformations
Presented by
Jennifer Combs, MSN, ARNP
September 25, 2015
Objectives
 Learner will list three possible causes of
fetal malformations.
 Learner will describe at least three
congenital anomalies
 Learner will describe three nursing
interventions to be able to support a family
with a newly diagnosed baby
Scope of Problem
 In the U.S., one in 33 babies is born
with a birth defect affecting about
120,000 babies each year. Not all birth
defects can be prevented. A woman can
take steps to increase her own chance of
having a baby with the best health
possible.
 Every 4.5 minutes a baby is born with a
birth defect
Common Genetic and
Congenital Disorders
 2-3% of all newborns will be found to have one
or more abnormalities in the newborn period.
 By the age of 1 year, 6% of individuals will have
been found to have an abnormality.
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Geneticists classify these disorders into 5 categories:
Chromosomal abnormalities (7.5%)
Single gene disorders (7.5%)
Teratogenic disorders (6%)
Multifactorial disorders (40%)
Etiology unknown (40%)
Syndrome
 A group of malformations,
deformations and malformation
sequences, etc. that occur together
due to some identifiable underlying
cause
 Down Syndrome, Fetal Alcohol
Syndrome, Edwards Syndrome,
Marfan Syndrome
Too Much, Too Little
 Chromosomal Abnormalities Caused
by too much or too little chromosomal
material
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Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Turner syndrome (45,X)
DiGeorge syndrome (22q11)
Trisomy 21
 Full or partial extra copy of
chromosome 21
 Most commonly occurring
genetic condition
 Frequency: 1 in 691
 Advanced maternal age
 Mental retardation
 Down Facies: flat nasal
bridge, epicanthal folds,
low set ears, nuchal folds
 Hypotonia
 CHD (40%)(AV canal, VSD)
Trisomy 21
 Short stature
 Simian creases
 Developmental
disability
 Alzheimer disease
 Leukemia
 Hirschsprung’s
disease
Model Madeline
 Australian fashion
model Madeline
 18 years old
 Down Syndrome
 Walked in New
York Fashion
week this year
Inclusion
Trisomy 13
 Least common
 Occurs 1:5,0001:12,000
 Advanced
maternal age
 5-10% survive
past 1st birthday
Trisomy 13: Patau
Syndrome
 Flattened facies
 Crumpled, low-set
ears, cleft lip/palate,
cardiac defects
 Nervous system
defects: forebrain
development, spinal
cord development,
mental retardation,
seizures
Trisomy 13: Patau
Syndrome
Joshua
Gracie
Trisomy 18: Edwards
Syndrome
 1:2500
pregnancies
 1:6000 live births
 50% will be live
born
 ~10% will survive
beyond first
birthday
Edwards Syndrome:
Trisomy 18
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Clenched hands
Petite facies
Microthagnia
Heart defects: VSD,
ASD, Coarctation of
the Aorta
 Rocker bottom feet
 Renal defects
 Prominent occiput
Trisomy 18
Eliot
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This is Eliot
He lived exactly 99 days…
His parents celebrated his birthday every day
At his funeral, they released 99 balloons…
Malformation
 A group of
malformations
that arise as the
result of a single
underlying
malformation
Pierre Robin Sequence
Treacher Collins
Cleft Lip and Palate
Imperative that they are treated by
a multidisciplinary treatment team
Deformation
 Abnormality that results from unusual
forces acting on normal tissue
(example: facial asymmetry due to
plagiocephaly caused by extra uterine
positioning of the head)
Positional Plagiocephaly
Disruption
 An abnormality resulting from
breakdown of normal tissue
 Amniotic Band Syndrome
 Occurs when the fetus becomes
entangled in fibrous string-like
amniotic bands in the womb,
restricting blood flow and affecting the
baby’s development.
Amniotic Band Syndrome
Dysplasia
 An abnormality resulting from
abnormal organization of cells in
tissue
 Skeletal dysplasia: most common is
Achondroplasia
 Hip dysplasia
 Neurocutaneous melanosis
Skeletal Dysplasia
Anencephaly
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1 in every 4,859 babies
1: 1000 pregnancies
Neural tube defect
3-4 weeks gestation
Over 99% die
In Utero
Prayers for Shane
 Prenatal diagnosis
at 13 weeks
 First baby
 Created a bucket
list and traveled
the US
 Over a million
people followed
their journey
Bucket list
Survivors
Angela
Teratogenic Disorders:
 Teratogens:
 Substances that have the potential to cause
congenital malformation when they come
into contact with a developing embryo or
fetus.
 Many factors determine what effect a teratogen
will have on the developing fetus.
 timing of the exposure
 length of time of the exposure
 species variability
 genetic predisposition
Teratogen Categories
 Basically, there are four categories of
teratogenic substances:
 Infectious agents (TORCH)
 Prescription medications (i.e.,
anticonvulsant medications)
 Non-prescription drugs (including
alcohol)
 Environmental agents (methyl mercury)
CMV
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Microcephaly
Blueberry rash
Seizures
Hearing loss
Mental retardation
SGA
Spread mainly by
children
Nursing Considerations
 Support of the family can begin with
prenatal diagnosis
 Perinatal hospice
 Inclusion of our special babies
 Comprehensive discharge teaching
 Consistent parental education
 Connection to outside hospital
maternal child health agencies
A Trip to Holland…
Thank you