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Problems in Prenatal Development
Miscarriage and Birth Defects
Losing a Baby• Miscarriage: If the developing baby dies
before the 20th week of pregnancy.
15 to 20 percent of recognized pregnancies end in miscarriage.
• Stillbirth: If the baby dies after the 20th week of pregnancy
This occurs in about 2% of pregnancies
common causes: abnormal chromosomes
poor growth
infections
problems with the placenta
Dealing with Grief
• Parents go through stages of grief– Similar to losing a child that has been born
Types of Birth Defects
• Birth Defects: babies that are born with problems that threaten their health or their lives.
• Hundreds of types
• Some mild - barely noticeable
• Some severe - lifelong
• Some birth defects cause an abnormality in the structure of the body.– Ex. Misshapen foot
Missing finger
• Others cause one or more body systems not to function properly– Ex. Blindness
Mental retardation
• Some birth defects are apparent at birth
• Others are not discovered until months or years later
Achondroplasia Huntington’s Disease
Cerebral Palsy Hydrocephalus
Cleft Palate Marfan Syndrome Clubfoot Muscular Dystrophy
Cystic Fibrosis Phenylketonuria (PKU)
Down Syndrome Progeria
Fifths Disease Rh Disease
Fragile X Syndrome Sickle Cell Disease
Gastroschisis Spina Bifida
Hemophelia Tay-Sachs Disease
Causes of Birth Defects
• Environmental Causes
**THE BABY’S ENVIRONMENT**
(womb)
- poor nutrition of mother
- diseases or infections of mother
- harmful substances taken by mother
ex: alcohol, drugs
- medicines taken by mother
- exposure to hazards
ex: X rays, chemicals
• Hereditary Causes:– When a child inherits a defect from its parents.
• Ex: cystic fibrosis - If both parents
pass on a recessive gene for
the disease, the baby will get
the disease.
• Errors in Chromosomes:– Due to problems in the number or structure of
chromosomes. Not hereditary, because neither parent has the abnormal chromosome.
– Ex. Down Syndrome - an extra copy of chromosome 21.
• Interaction of Heredity and Environment:– Some birth defects are caused by a combination of
heredity and the environment. For example, a child may inherit a tendency for a birth defect. If an environmental factor exists, the baby will have the defect.
– Ex. Cleft palate and cleft lip
Spina bifida
Prevention & Diagnosis of Birth Defects
• Prospective parents should get regular health checkups.
• Avoid smoking, drugs & alcohol
• Genetic Counseling:– Genetic counselors can inform couples of their
chances of having a child with certain birth defects. They will not be told what to do - just what the options and risks are.
Prenatal Tests• Alpha-fetoprotein (AFP):
– Blood test performed on mother• It checks the levels of AFP being
produced by the fetus. Abnormal levels can mean a birth defect.
• Ultrasound:– Uses sound waves to make a video image
of the developing baby. Some birth defects can be detected with an ultrasound picture (sonogram).
• Amniocentesis:Taking a sample of the amniotic fluid that
surrounds the developing baby. This is usually used to test for Down Syndrome when the mother is over 35.
• Chorionic villi sampling:– Takes a sample of the tissue in the placenta.
Used less often, due to greater risks.– Can be used earlier than amniocentesis.
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