1. Basic Facts on Birth Defects
Group 7
Basic Facts on Birth Defects

2. GROUP 7 BASIC BIRTH DEFECT FACTS
About 150,000 babies are born each year with birth defects.
The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect
There are over 4,000 known birth defects
Birth defects are the leading cause of death in the first year of life

3. What is a Birth Defect?
An abnormality of structure, function or body metabolism (inborn error of body chemistry) present at birth that results in physical or mental disability or is fatal.

4. What causes birth defects?
Both genetic and environmental factors can cause birth defect. However, the causes of about 60% of birth defects are currently unknown.
A single abnormal gene can cause birth defects. Every human being has about 100,000 genes that determine traits like eye color, hair, etc.

5. Types of Birth Defects 1. Malformations present at birth
defects such as congenital heart malformation, spina bifida (open spine), cleft palate, clubfoot
2. Inborn errors of metabolism
Defects such as PKU, Tay Sachs disease
3. Blood Disorders
Defects such as sickle cell anemia, hemophilia, thalassemia.
4. Chromosomal Abnormalities
Conditions such as Down’s Syndrome, Klinefelter syndrome, Turner Syndrome.
5. Prenatal damage
Cases include certain infections, drugs, maternal disorders such as diabetes, high blood pressure, Rh disease, umbilical cord accidents, difficult labor or delivery, premature birth.

6. Can some birth defects be diagnosed before birth?
Genetic counseling is a form of medical care that helps couples to understand their genetic codes and how they might affect their children.
Ultrasound
A technique that uses sound waves to show a picture of a baby (fetus) in the womb.
Amniocentesis
A small sample of amniotic fluid surrounding the fetus is removed and examined to detect certain birth defects ( Rh disease, and strength of the lungs of the fetus)
Chronic villus sampling
A prenatal test that takes a tiny tissue sample from outside the sac where the fetus develops.
Placenta Conditions

7. Can birth defects be treated before birth?
Advances in prenatal therapy now make it possible to treat some birth defects before birth.
Prenatal surgery – urinary-tract blockages, rare tumors in the lungs, spina bifida, ph disease,

8. Birth Defect Results
Miscarriage – occurs prior to 20 weeks of pregnancy
Most miscarriages occur when pregnancy is not developing normally. Natures way of expelling a baby incapable of surviving.
1st trimester- chromosomal abnormalities in the fetus, hormonal problems, infections, and health problems of the mother.
2nd trimester – often caused by uterus problems. Misshaped uterus, weakened cervix that dilates prematurely, chromosomal abnormalities, immune system problems,
Stillbirth – after 20 weeks of pregnancy
When the fetus appears to be developmentally normal, but for some reason is born dead.
Most common causes: Placenta problems, Birth defects, Growth restrictions, Infections
Baby will live and you will enjoy the child and adjust to the defect.