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. 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 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) While the risk of Down Syndrome increases with maternal age, because of the higher fertility rates of women under the age of 35, 80% of trisomy 21 babies will be born to women under the age of 35.

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 Look at your hospital advertising, brochures, etc. Does your facility promote inclusion?

Trisomy 13 Least common Occurs 1:5,000-1:12,000 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 Midline defects that generally occur at about 3-4 weeks gestation

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 Clenched hands Petite facies Microthagnia Heart defects: VSD, ASD, Coarctation of the Aorta Rocker bottom feet Renal defects Prominent occiput

Trisomy 18

Eliot 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 SOX9 gene; microthagnia; cleft palate; tongue falls back Pierre Robin Sequence

Treacher Collins Hypoplastic facial bones and muscles; missing up to 40% of facial bones; more than 50% are deaf and have hearing problems; cleft palates; downslanting eyes; ocular colobomas; many require advanced airways (trach)

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 Amnion ruptures and the fibrous strings become attached to baby; no two cases alike.

Dysplasia An abnormality resulting from abnormal organization of cells in tissue Skeletal dysplasia: most common is Achondroplasia Hip dysplasia Neurocutaneous melanosis

Skeletal Dysplasia

Anencephaly 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 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