1. Birth Defects
The Basics

2. Birth Defects Definition:
An abnormality of structure, function or body metabolism which often results in a physical or mental handicap, shorter life or is fatal.

3. Classifications of Birth Defects
1. Structural - Club foot, clef palate
2. Metabolic -Heart/Circulatory
3. Congenital -Syphilis, HIV
4. Chromosomal -Down Syndrome
5. Other -FAS

4. Causes of Birth Defects and Percentages of Occurrence
1- Heredity
20%
2- Environment
3- Combination
60%

5. Prenatal Time Period Most Sensitive to Development
The first trimester is the most important time period for prenatal development
Baby develops all of its body systems in the first six weeks.
Nourishment very important- Know you’re pregnant?

6. Factors Affecting Birth Defects
1- Heredity
2- Environment
3- When you catch it- can it be resolved?

7. Environmental Influences
Lack of early medical attention
Disease or infections of the mother
medications: only under the care of your Doctor
everything crosses the placenta
Harmful substances ingested by the mother
drugs, nicotine, alcohol
causes slower fetal growth and transfers to the kidneys of the fetus causing damage

8. Environmental Influences
Exposure to X-rays, pollutants, toxic substances
Lack of folate, folic acid, folacin
Lack of Exercise
Helps with circulation
Poor diet
If the mother goes without so does the fetus

9. Environmental Influences
Submersion in hot water
Proper immunizations
Too much, too little weight gain
24-30 lbs

10. Environmental Birth Defects
Neural Tube Defects
brain and spinal cord damage from lack of folic acid in the mother’s diet
Fetal Alcohol Syndrome (FAS)
physical and mental birth defects caused by excessive or steady alcohol consumption
100% preventable

11. Birth Defects- Heredity
If you know you’re at-risk, talk with your Doctor before getting pregnant.
Tests useful in detecting birth defects
Ultrasound: sound waves produce a video image of the fetus
Amniocentesis: needle in abdominal wall to withdraw amniotic fluid. 3-4 weeks
Chorionic Villa Sampling: needle through vagina, cervix, and uterus to take cells from placenta- quick results

12. Sex-Linked Defects
Color Blindness
Baldness
Etc.

13. The Rh Factor Blood cells of baby or mother crosses over to the other.
Problem when they baby and mother are not the same blood factor
Rh+
Rh-

14. An introduction to Genetics
Heredity
An introduction to Genetics

15. What are Genes? Genes are inherited traits
Physical characteristics passed on to children contributed by both parents.
There are 23 pairs of chromosomes in a fertilized cell- for a total of 46 chromosomes. - contained in the nucleus

16. Parents
Children 2 b 1 a 4 d 3 c

17. a b 4 3 c 1 d 2

18. Woman’s sex cell:
Ovum/Egg
Man’s sex cell:
Sperm

19. TWINS!!! Monozygotic: Siamese Twins: Dizygotic:
Identical twins: Fertilized eggs splits.
Siamese Twins:
Monozygotic, but the egg does not complete the seperation of the cell- still attached somewhere.
Dizygotic:
Fraternal Twins: Two separate eggs are fertilized.

20. Factors to Increase Chances of Having Twins
History of twins in family
Taking increased amount of hormones
Use of artificial hormones
Ages

21. GENES Dominant Gene Dominant Inheritance Recessive Gene:
Stronger gene- characteristics is produced.
Dominant Inheritance
Dd x dd
50/50 chance of inheriting a trait
Recessive Gene:
Weaker gene- they do not produce characteristics, but are carried only to produce when both parents carry. Dd x dd
Recessive Inheritance
Rr x Rr % chance

26. Terms Syndrome: Carrier: Congenital Malformation or Birth Defect
Set of characteristics that identify a certain condition or characteristic
Carrier:
Person who carries and passes on a disease or condition without having it himself.
Congenital Malformation or Birth Defect
Defect present at birth
Multifactoral defects:
interaction of many genes with other genes or environmental factors.
Chromosomal error:
Fertilized egg cell contains chromosomes in an abnormal number, structure or arrangement.