1. Perfectly Imperfect: An Overview of Human Malformations
Presented by
Jennifer Combs, MSN, ARNP
September 25, 2015

2. 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

3. 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

4. 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%)

5. 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

6. 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)

7. 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.

8. Trisomy 21 Short stature Simian creases Developmental disability
Alzheimer disease
Leukemia
Hirschsprung’s disease

10. Model Madeline Australian fashion model Madeline 18 years old
Down Syndrome
Walked in New York Fashion week this year

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

12. Trisomy 13 Least common Occurs 1:5,000-1:12,000 Advanced maternal age
5-10% survive past 1st birthday

13. 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

14. Trisomy 13: Patau Syndrome

15. Joshua
Gracie

16. Trisomy 18: Edwards Syndrome
1:2500 pregnancies
1:6000 live births
50% will be live born
~10% will survive beyond first birthday

17. Edwards Syndrome: Trisomy 18
Clenched hands
Petite facies
Microthagnia
Heart defects: VSD, ASD, Coarctation of the Aorta
Rocker bottom feet
Renal defects
Prominent occiput

18. Trisomy 18

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

20. 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

21. 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)

22. Cleft Lip and Palate
Imperative that they are treated by a multidisciplinary treatment team

23. 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)

24. Positional Plagiocephaly

25. 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.

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

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

28. Skeletal Dysplasia

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

30. In Utero

31. 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

32. Bucket list

34. Survivors
Angela

35. 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

36. 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)

37. CMV Microcephaly Blueberry rash Seizures Hearing loss
Mental retardation
SGA
Spread mainly by children

38. 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

39. A Trip to Holland…

40. Thank you