Download - Birth Defects. An abnormality present at birth that affects the structure or function of the body
Birth Defects
An abnormality present at birth that affects the structure or function of the body
About 150,000 babies are born each year with birth defects.
One out of 28 babies has a birth defect
Over 4,000 known birth defects Birth defects are the leading
cause of death in the first year of life.
1. Malformations present at birth
• Spina bifida (open spine)• Cleft lip/palate
2. Inborn errors of metabolism• PKU• Tay-Sacs disease
3. Blood Disorders• Sickle cell anemia
4. Chromosomal Abnormalities - Down’s Syndrome
5. Prenatal damage caused by:infectionsdrugsmaternal disorders such as
diabetes, high blood pressure, Rh disease
umbilical cord accidentsdifficult labor or deliverypremature birth.
The cause is not know for 60% of Birth Defects.
Defective recessive genes from both parentsCystic FibrosisTay-Sachs disease (Jewish)Sickle cell anemia (African-American
Defective dominant gene from 1 parentHemophilisHuntington’s diseaseDuchenne muscular dystrophyColor blindness
Errors in chromosomesDown syndrome
Poor nutrition of mother (over or under weight)
Rubella (German measles) Toxoplasmosis (parasite from cat litter and some raw meat)
Varicella (Chicken Pox) STD’s Drugs (street and legal)
Caffeine Alcohol Chemicals – paints (houses built before 1955), pesticides, carbon monoxide
X-rays Accidental injuries
Health problems of mother
High blood pressure Diabetes Sickle anemia Epilepsy
Inherited tendency to develop a heart defect combined with the use of drugs or a virus during pregnancy
Cleft-lip or cleft palate Spina bifida and hydrocephalus Multiple births
Hyper-ovulation (genetic)Twin to twin syndrome (TTTS) 1 twin taking
nourishment from the other caused by fertility drugs.
Steps can be taken to reduce the risk
Getting a pre-pregnancy check up
When pregnant take 400 mg of the B-vitamin folic acid
Avoid known risks
Ultrasound Amniocentesis Chronic villus sampling
Sonogram
Chorionic Villi Sampling
Amniocentesis
Prenatal surgery can be used for:
Urinary-tract blockages Rare tumors in the lungs Spina bifida