BIRTH DEFECT

WHAT IS A BIRTH DEFECT?

BABIES THAT SURVIVE PREGNANCY BUT ARE BORN WITH SERIOUS PROBLEMS
THAT THREATEN THEIR HEALTH OR EVEN THEIR LIVES.

THERE ARE HUNDREDS OF TYPES OF BIRTH DEFECTS,

EACH WITH ITS OWN SET OF SYMPTOMS.

APPROXIMATELY 150,000 BABIES AROUND THE WORLD ARE BORN EACH YEAR
WITH A BIRTH DEFECT.
• NOT ALL BIRTH DEFECTS ARE APPARENT AT BIRTH
 FOUR MAJOR CAUSES OF BIRTH DEFECTS

ENVIRONMENTAL

HEREDITARY

CHROMOSOMAL (ERRORS IN CHROMOSOMES)

• MULTIFACTORIAL (INTERACTION OF HEREDITY ENVIRONMENT)
 ENVIRONMENTAL CAUSES

THERE ARE SEVERAL ENVIRONMENTAL (EXTERNAL) FACTORS THAT CAN AFFECT

THE DEVELOPMENT OF THE BABY. SUCH AS

NUTRITIONAL DIET OF THE MOTHER

DISEASES OR INFECTIONS

HARMFUL SUBSTANCES THE MOTHER CONSUMES (PRESCRIPTION DRUGS,

ALCOHOL, ILLEGAL DRUGS)
• EXPOSURE TO HAZARDS SUCH AS X RAYS
 HEREDITARY CAUSES

GENETICS CAN AFFECT THE DEVELOPMENT OF THE BABY

EVERY PERSON HAS APPROX. 20,000 25,000 GENES THAT DETERMINE EVERYTHING FROM
EYE COLOR TO DIRECTING THE GROWTH AND DEVELOPMENT OF EVERY SYSTEM IN THE
BODY.

CHILDREN TYPICALLY GET 5-6 IMPERFECT RECESSIVE GENES PASSED ON TO THEM.

WHERE PARENTS BOTH PASS ON THE IMPERFECT RECESSIVE GENE THE BIRTH DEFECT
WILL APPEAR.
• TAY-SACHS AND CYSTIC FIBROSIS ARE EXAMPLES OF SUCH RECESSIVE INHERITANCE.
 ERRORS IN CHROMOSOMES

CHROMOSOMES CAN AFFECT THE DEVELOPMENT OF THE BABY

SEVERAL BIRTH DEFECTS ARE CAUSED BY PROBLEMS IN THE NUMBERS OR STRUCTURE OF

CHROMOSOMES.

AN ERROR MAY OCCUR WHEN AN EGG OR SPERM CELL IS DEVELOPING, CAUSING A BABY TO HAVE
TOO MANY OR TOO FEW CHROMOSOMES OR TO HAVE BROKEN OR REARRANGED CHROMOSOMES.

THESE ARE NOT HEREDITARY DEFECTS BECAUSE NEITHER PARENT HAS THE ABNORMAL
CHROMOSOME.
• MOST COMMON BIRTH DEFECT OF THIS TYPE IS DOWN SYNDROME. (EXTRA COPY OF
CHROMOSOME 21)
 INTERACTION OF HEREDITY ENVIRONMENT

SOME BIRTH DEFECTS ARE MULTIFACTORIAL, MEANING THEY ARE CAUSED DUE
TO ENVIRONMENTAL AND HEREDITARY FACTORS

THE BABY INHERITS THE TENDENCY FOR A BIRTH DEFECT TO OCCUR AND IS
TRIGGERED BY AN EXTERNAL FACTOR.
• CLEFT LIP AND SPINA BIFIDA MAY BE CAUSED BY A COMBINATION OF INHERITED
GENES AND EXPOSURE DURING PREGNANCY TO MEDICATIONS, INFECTIONS,
ILLNESSES, AND TOBACCO OR ALCOHOL.
 MISCARRIAGE AND STILLBIRTH

• SOMETIMES A PREGNANCY BEGINS, BUT THE BABY DOESNT DEVELOP

NORMALLY. IN SOME CASES, THE DEVELOPING BABY DIES. IF THIS HAPPENS
PRIOR TO THE 20TH WEEK OF PREGNANCY (MONTH 1-3) THE EVENT IS CALLED A
MISCARRIAGE. IF THE BABY DIES AFTER THAT TIME, IT IS CALLED A STILLBIRTH.
 GENETIC COUNSELING

THIS IS WHERE A SPECIALIST EVALUATES THE MEDICAL HISTORIES AND FAMILY

HISTORY OF BOTH INDIVIDUALS, AS WELL AS THE PARENTS THROUGH A PHYSICAL
EXAMINATION.

THEY EXAMINE OTHER FAMILY MEMBERS, ETC.

THEY ASSESS THE RISK OF HAVING A CHILD WITH A BIRTH DEFECT THAT IS CAUSED BY
A DEFECT IN THE GENES, IF THERE IS A HISTORY OF A BIRTH DEFECT IN THE FAMILY.
• THESE COUNSELORS DO NOT TELL PEOPLE WHAT TO DO THEY ONLY EXPLAIN THE
OPTIONS AND RISKS.
 PRENATAL TESTS
THESE ARE TESTS THAT ARE CONDUCTED DURING A PREGNANCY TO DETECT
BIRTH DEFECTS
• ALPHA-FETOPROTEIN (AFP)
• AMNIOCENTESIS
• ULTRASOUND
• CHORIONIC VILLI SAMPLING
 ALPHA-FETOPROTEIN (AFP)

BLOOD TEST ON THE EXPECTED MOTHER BETWEEN WEEKS 15-20 OF PREGNANCY.

AFP IS A PROTEIN PRODUCED IN THE LIVER OF THE FETUS THAT IS DETECTABLE IN

THE LIVER OF THE FETUS THAT IS DETECTABLE IN THE MOTHERS BLOOD.
• ABNORMAL AFP LEVELS CAN INDICATE A POSSIBLE BIRTH DEFECT.
 AMNIOCENTESIS

A SAMPLE OF THE AMNIOTIC FLUID IS WITHDRAWN BY USING AN ULTRASOUND TO

GUIDE A NEEDLE THROUGH THE MOTHERS ABDOMEN INTO THE AMNIOTIC SAC.
• SOME CELLS FROM THE FETUS ARE IN THE AMNIOTIC FLUID AND CAN BE
ANALYZED FOR DEFECTS SUCH AS DOWN SYNDROME.
 ULTRASOUND

USES SOUND WAVES TO MAKE A VIDEO IMAGE OF AN UNBORN BABY.

• HELPS THE DOCTOR TO MONITOR THE DEVELOPMENT OF THE BABY, PINPOINT
AGE AND DETECT CERTAIN BIRTH DEFECTS (SKELETAL, CIRCULATORY, NERVOUS
SYSTEM DEFECTS CAN BE DETECTED IN AN ULTRASOUND).
 CHORIONIC VILLI SAMPLING

A SAMPLE OF TISSUE FROM THE MEMBRANE THAT SURROUNDS THE FETUS IS

EXTRACTED BY SNIPPING OR SUCTION, TO CHECK FOR SPECIFIC BIRTH DEFECTS.
• DETECTS SAME DEFECTS AS AMNIOCENTESIS, BUT POSES A GREATER
SAFETY/HEALTH RISK TO THE FETUS.