1. Birth Defects

2. Birth Defects
Serious problems some babies are born with that threaten their health or ability to live
3/100 U.S. children have a birth defect

3. Environmental Causes Mother’s diet
Diseases or infections of mother during pregnancy
Harmful substances – alcohol, tobacco, drugs used by mother
Medicine
Radiation

4. Hereditary Causes A dominant defective gene is passed from one parent
parent carries and has trait
A recessive defective gene is passed from each parent
parent carries but do not have trait

5. Errors in Chromosomes Too many or too few chromosomes
A child with Down Syndrome has an extra chromosome #21
Occurs 1 in 800 births
Risk increases if mother is over age 35

6. Hereditary Birth Defects

7. Causes problems of the motor system
Cerebral Palsy
Causes problems of the motor system

8. Cleft Lip – Cleft Palate
A gap in the upper lip or palate
Can be corrected with surgery

9. Affects the respiratory and digestive systems
Cystic Fibrosis
Affects the respiratory and digestive systems

10. Down Syndrome An extra #21 chromosome Results in:
Intellectual disability
Physical growth delays
Characteristic facial features

11. Progressive weakness and shrinking of the muscles
Muscular Dystrophy
Progressive weakness and shrinking of the muscles

12. PKU - Phenylketonuria Inability to process a specific protein
A blood sample is taken from newborns for testing

13. Malformed red blood cells interfere with supplying oxygen to the body
Sickle Cell Anemia
Malformed red blood cells interfere with supplying oxygen to the body

14. Spina Bifida Incompletely formed spinal cord
Folic Acid (in multivitamin or pill-form) reduces incidences of Spina Bifida by 70%

15. Tay-Sachs Disease
Lacks a chemical in blood making body unable to process and use fats
The condition leads to brain damage and death, usually by age 4

16. A rare bleeding disorder in which the blood doesn't clot normally.
Hemophilia
A rare bleeding disorder in which the blood doesn't clot normally.

17. Club Foot Foot appears to have been rotated internally at the ankle
Foot appears to have been rotated internally at the ankle
With treatment, the vast majority of patients recover completely during early childhood

18. Dwarfism can be caused by over 200 distinct medical conditions

19. Environment Related Birth Defects

20. Environment Related Birth Defects
Harm to the baby varies greatly:
What substance was taken by mother
How much and how often it was taken
The stage of development of the baby

21. Fetal Alcohol Syndrome
Physical and mental problems for the baby resulting from the mother drinking alcohol while pregnant

22. Tobacco/Nicotine The more a mother smokes,
the smaller her baby is likely to be

23. Fumes that are inhaled into the lungs
Inhalants
Fumes that are inhaled into the lungs

24. Illegal Drugs
Heroin
LSD
Marijuana
Cocaine
Methamphetamines

25. Effects of Thalidomide
Once prescribed in the 1950’s as a sleeping aide
Babies were born without limbs and with organ defects

26. Caffeine
Increase baby's heart rate
Baby may have lower birth weight

27. Prescription Drugs

28. Radiation can cause birth defects
X Rays
Radiation can cause birth defects

29. Rubella (German Measles)
If a mother is infected while pregnant
Cause miscarriage, preterm birth, or stillbirth
Can result in deafness, blindness, heart disease, or mental retardation of baby
A vaccine is available

30. Sexually Transmitted Diseases
Syphilis
Gonorrhea
Hepatitis B
Genital Herpes
AIDS

31. Premature Babies

32. Uncommon Birth Defects

33. Mermaid Syndrome If the mother during pregnancy has: A major illness
Physical/mental stress
Excessive exposure to radiation
An inherited genetic disorders
Inadequate prenatal care
1 in 70,000 births

34. Shiloh Pepin Surgery- not an option
She had a partially working kidney, no lower colon, and no genital organs.
Died at age 10 of pneumonia

35. Ambras Syndrome Excessive hair over the face and body
Only 40 known cases at the current time

36. Cyclopia One eye in the middle of their head
Related to cancer treatment drugs taken by pregnant women

37. Foetus in Foetu A child born with his twin inside them
Lives off it like a parasite
Surgery can usually remove

38. Progeria 1 in 8,000,000 Aged well beyond their years
Lose hair and develop wrinkles
Most die by adolescence

39. Born with a semi-functional tail
Vestigial Tail
Born with a semi-functional tail

40. Cri du Chat Birth defect in the larynx
Removal of genes from chromosome 5

41. Hypospadias
The opening of the urethra is not located at the tip of the penis.
Not treated: can lead difficulty performing sexual intercourse or urinating while standing.
5 out of every 1,000 boys born in the United States have this.

42. Anencephaly
Neural tube defect that occurs when the rostral (head) end of the neural tube fails to close
Between the 23rd and 26th day of conception
Results in the absence of a major portion of the brain, skull, and scalp.

43. Hydrocephalus Excess fluid surrounds the brain
Shunt is placed in cerebral area to drain fluid

44. Birth Defect Statistics (babies per year)
Down syndrome: 6,916
Cleft lip and/or cleft palate: 6,776
Heart defects: 6,527
Musculoskeletal defects : 5,799 Stomach/intestinal defects: 2,883
Eye defects: 834