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