Perfectly Imperfect: An Perfectly Imperfect: An Overview of Human Overview of Human

MalformationsMalformations

Presented by Presented by

Jennifer Combs, MSN, ARNPJennifer Combs, MSN, ARNP

September 25, 2015 September 25, 2015

ObjectivesObjectives

Learner will list three possible causes of Learner will list three possible causes of fetal malformations.fetal malformations.

Learner will describe at least three Learner will describe at least three congenital anomaliescongenital anomalies

Learner will describe three nursing Learner will describe three nursing interventions to be able to support a family interventions to be able to support a family with a newly diagnosed babywith a newly diagnosed baby

Scope of ProblemScope 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 Common Genetic and Congenital DisordersCongenital 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. 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%)

SyndromeSyndrome

A group of malformations, A group of malformations, deformations and malformation deformations and malformation sequences, etc. that occur together sequences, etc. that occur together due to some identifiable underlying due to some identifiable underlying causecause

Down Syndrome, Fetal Alcohol Down Syndrome, Fetal Alcohol Syndrome, Edwards Syndrome, Syndrome, Edwards Syndrome, Marfan SyndromeMarfan Syndrome

Too Much, Too LittleToo Much, Too Little

Chromosomal Abnormalities Caused by too much or too little chromosomal material Down syndrome (Trisomy 21) Edwards syndrome (Trisomy 18) Patau syndrome (Trisomy 13) Turner syndrome (45,X) DiGeorge syndrome (22q11)

Trisomy 21Trisomy 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 21Trisomy 21

Short stature Simian creases Developmental

disability Alzheimer disease Leukemia Hirschsprung’s

disease

Model MadelineModel Madeline

Australian fashion Australian fashion model Madelinemodel Madeline

18 years old18 years old Down SyndromeDown Syndrome Walked in New Walked in New

York Fashion York Fashion week this yearweek this year

InclusionInclusion

Trisomy 13Trisomy 13

Least commonLeast common Occurs 1:5,000-Occurs 1:5,000-

1:12,0001:12,000 Advanced Advanced

maternal agematernal age 5-10% survive 5-10% survive

past 1past 1stst birthday birthday

Trisomy 13: Patau Trisomy 13: Patau SyndromeSyndrome

Flattened faciesFlattened facies Crumpled, low-set Crumpled, low-set

ears, cleft lip/palate, ears, cleft lip/palate, cardiac defectscardiac defects

Nervous system Nervous system defects: forebrain defects: forebrain development, spinal development, spinal cord development, cord development, mental retardation, mental retardation, seizures seizures

Trisomy 13: Patau Trisomy 13: Patau SyndromeSyndrome

Joshua

Gracie

Trisomy 18: Edwards Trisomy 18: Edwards SyndromeSyndrome

1:2500 1:2500 pregnanciespregnancies

1:6000 live births1:6000 live births 50% will be live 50% will be live

bornborn ~10% will survive ~10% will survive

beyond first beyond first birthdaybirthday

Edwards Syndrome: Edwards Syndrome: Trisomy 18Trisomy 18

Clenched handsClenched hands Petite faciesPetite facies MicrothagniaMicrothagnia Heart defects: VSD, Heart defects: VSD,

ASD, Coarctation of ASD, Coarctation of the Aorta the Aorta

Rocker bottom feetRocker bottom feet Renal defectsRenal defects Prominent occiputProminent occiput

Trisomy 18Trisomy 18

EliotEliot

This is EliotThis is Eliot He lived exactly 99 days…He lived exactly 99 days… His parents celebrated his birthday every day His parents celebrated his birthday every day At his funeral, they released 99 balloons…At his funeral, they released 99 balloons…

MalformationMalformation

A group of A group of malformations malformations that arise as the that arise as the result of a single result of a single underlying underlying malformationmalformation

Pierre Robin Sequence

Treacher CollinsTreacher Collins

Cleft Lip and PalateCleft Lip and Palate

Imperative that they are treated by a multidisciplinary treatment team

DeformationDeformation

Abnormality that results from unusual Abnormality that results from unusual forces acting on normal tissue forces acting on normal tissue (example: facial asymmetry due to (example: facial asymmetry due to plagiocephaly caused by extra uterine plagiocephaly caused by extra uterine positioning of the head)positioning of the head)

Positional PlagiocephalyPositional Plagiocephaly

DisruptionDisruption

An abnormality resulting from An abnormality resulting from breakdown of normal tissuebreakdown of normal tissue

Amniotic Band SyndromeAmniotic Band Syndrome Occurs when the fetus becomes Occurs when the fetus becomes

entangled in fibrous string-like entangled in fibrous string-like amniotic bands in the womb, amniotic bands in the womb, restricting blood flow and affecting restricting blood flow and affecting the baby’s developmentthe baby’s development..

Amniotic Band SyndromeAmniotic Band Syndrome

DysplasiaDysplasia

An abnormality resulting from An abnormality resulting from abnormal organization of cells in abnormal organization of cells in tissue tissue

Skeletal dysplasia: most common is Skeletal dysplasia: most common is AchondroplasiaAchondroplasia

Hip dysplasiaHip dysplasia Neurocutaneous melanosisNeurocutaneous melanosis

Skeletal DysplasiaSkeletal Dysplasia

AnencephalyAnencephaly

1 in every 4,859 babies 1: 1000 pregnancies Neural tube defect 3-4 weeks gestation Over 99% die

In UteroIn Utero

Prayers for ShanePrayers for Shane

Prenatal diagnosis Prenatal diagnosis at 13 weeksat 13 weeks

First babyFirst baby Created a bucket list Created a bucket list

and traveled the USand traveled the US Over a million Over a million

people followed their people followed their journey journey

Bucket listBucket list

SurvivorsSurvivors

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 CategoriesTeratogen 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)

CMVCMV

MicrocephalyMicrocephaly Blueberry rashBlueberry rash SeizuresSeizures Hearing lossHearing loss Mental retardationMental retardation SGASGA Spread mainly by Spread mainly by

childrenchildren

Nursing ConsiderationsNursing Considerations

Support of the family can begin with Support of the family can begin with prenatal diagnosisprenatal diagnosis

Perinatal hospicePerinatal hospice Inclusion of our special babiesInclusion of our special babies Comprehensive discharge teachingComprehensive discharge teaching Consistent parental educationConsistent parental education Connection to outside hospital maternal Connection to outside hospital maternal

child health agencieschild health agencies

A Trip to Holland…A Trip to Holland…

Thank youThank you