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Questions and Answers
Which viral infection is associated with malformations if a mother is infected during pregnancy?
Which viral infection is associated with malformations if a mother is infected during pregnancy?
- HIV
- Herpes Simplex Virus
- Papillomavirus
- Coxsackie Virus (correct)
What is the main cause of fetal infection resulting in calcifications?
What is the main cause of fetal infection resulting in calcifications?
- Toxoplasmosis (correct)
- Rubella
- Syphilis
- Listeria Monocytogenes
What is the overall malformation rate after maternal infections with common viral agents?
What is the overall malformation rate after maternal infections with common viral agents?
- Moderate but concerning
- Low, if not nonexistent (correct)
- High and significant
- Variable, depending on the virus
Which of the following is NOT a common source of Toxoplasmosis gondii?
Which of the following is NOT a common source of Toxoplasmosis gondii?
Which maternal infection is associated with the lowest malformation rates during pregnancy?
Which maternal infection is associated with the lowest malformation rates during pregnancy?
What percentage of women are currently immune to rubella?
What percentage of women are currently immune to rubella?
Which infectious agent is often asymptomatic in mothers but can have devastating effects on the fetus?
Which infectious agent is often asymptomatic in mothers but can have devastating effects on the fetus?
What complication can be caused by meningoencephalitis resulting from cytomegalovirus infection?
What complication can be caused by meningoencephalitis resulting from cytomegalovirus infection?
Which of the following viruses is NOT mentioned as causing birth defects?
Which of the following viruses is NOT mentioned as causing birth defects?
What has contributed to the reduction of birth defects caused by rubella?
What has contributed to the reduction of birth defects caused by rubella?
What is the term used for the study of birth defects?
What is the term used for the study of birth defects?
What percentage of liveborn infants are affected by major structural anomalies?
What percentage of liveborn infants are affected by major structural anomalies?
Birth defects account for what percentage of infant deaths?
Birth defects account for what percentage of infant deaths?
Which department do dysmorphologists typically belong to?
Which department do dysmorphologists typically belong to?
How significant are birth defects as a contributor to disabilities?
How significant are birth defects as a contributor to disabilities?
What primarily differentiates malformations from deformations?
What primarily differentiates malformations from deformations?
Which statement about disruptions is incorrect?
Which statement about disruptions is incorrect?
What is a characteristic feature of deformations?
What is a characteristic feature of deformations?
When do most malformations occur in fetal development?
When do most malformations occur in fetal development?
Which of the following is an example of deformation?
Which of the following is an example of deformation?
What impact does ionizing radiation have on rapidly proliferating cells during pregnancy?
What impact does ionizing radiation have on rapidly proliferating cells during pregnancy?
Which percentage of women who were pregnant during the atomic bomb explosions experienced abortions?
Which percentage of women who were pregnant during the atomic bomb explosions experienced abortions?
What types of birth defects can ionizing radiation produce?
What types of birth defects can ionizing radiation produce?
How does ionizing radiation act as a mutagenic agent?
How does ionizing radiation act as a mutagenic agent?
What proportion of children born to women survivors of the atomic bomb had severe birth defects involving the central nervous system?
What proportion of children born to women survivors of the atomic bomb had severe birth defects involving the central nervous system?
What distinguishes a syndrome from an association?
What distinguishes a syndrome from an association?
Which of the following is an example of an association?
Which of the following is an example of an association?
Why is recognizing associations important in medical diagnosis?
Why is recognizing associations important in medical diagnosis?
Which statement about anomalies in syndromes is accurate?
Which statement about anomalies in syndromes is accurate?
In the context of medical classification, how can associations be characterized?
In the context of medical classification, how can associations be characterized?
What is the primary factor that influences susceptibility to teratogenesis in a conceptus?
What is the primary factor that influences susceptibility to teratogenesis in a conceptus?
During which period of gestation is the conceptus most susceptible to teratogens?
During which period of gestation is the conceptus most susceptible to teratogens?
What are the consequences of exposure to teratogens that depend on the dose and duration of exposure?
What are the consequences of exposure to teratogens that depend on the dose and duration of exposure?
Which mechanism of teratogenesis can result in cell death during embryogenesis?
Which mechanism of teratogenesis can result in cell death during embryogenesis?
Which of the following is NOT a manifestation of abnormal development due to teratogen exposure?
Which of the following is NOT a manifestation of abnormal development due to teratogen exposure?
What percentage of birth defects cases are attributed to unknown causes?
What percentage of birth defects cases are attributed to unknown causes?
How much do genetic factors contribute to the occurrence of birth defects?
How much do genetic factors contribute to the occurrence of birth defects?
What is a significant challenge in assessing the role of chemical agents in abnormalities during pregnancy?
What is a significant challenge in assessing the role of chemical agents in abnormalities during pregnancy?
Which drug was notably linked to an increase in cases of amelia and meromelia in 1961?
Which drug was notably linked to an increase in cases of amelia and meromelia in 1961?
What is the chance of an infant having a major malformation if they exhibit three or more minor anomalies?
What is the chance of an infant having a major malformation if they exhibit three or more minor anomalies?
Why might a common defect like cleft lip or heart malformation be overlooked in relation to drug exposure?
Why might a common defect like cleft lip or heart malformation be overlooked in relation to drug exposure?
Which of the following percentage ranges represents the contribution of environmental factors to birth defects?
Which of the following percentage ranges represents the contribution of environmental factors to birth defects?
What percentage of cases are attributed to twinning as a factor for birth defects?
What percentage of cases are attributed to twinning as a factor for birth defects?
What is a primary reason only a few drugs used in pregnancy have been identified as teratogenic?
What is a primary reason only a few drugs used in pregnancy have been identified as teratogenic?
What type of abnormality did thalidomide cause, which led to its investigation?
What type of abnormality did thalidomide cause, which led to its investigation?
Flashcards
Syndrome
Syndrome
A group of birth defects that occur together due to a known shared cause.
Association
Association
When two or more birth defects appear together more often than expected by chance alone, but the reason is unknown. An example is the VACTERL association.
Syndrome vs. Association
Syndrome vs. Association
A syndrome is a group of anomalies that occur together due to a specific common cause.
Importance of Associations
Importance of Associations
Associations are important because they help doctors recognize specific patterns in birth defects and promote the search for other possible abnormalities.
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VACTERL Association
VACTERL Association
VACTERL association is an example of an association that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal abnormalities, and limb deficiencies.
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Fetal Malformations due to Maternal Viral Infections
Fetal Malformations due to Maternal Viral Infections
A group of medical conditions that can occur when a fetus is exposed to certain viruses during pregnancy. These conditions can range from mild to severe and include physical deformities and developmental delays. Examples of viruses that can cause malformations include measles, mumps, hepatitis, and influenza.
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Toxoplasmosis
Toxoplasmosis
A parasitic infection that can be harmful to a fetus. It can cause various birth defects, including brain damage, blindness, and seizures. It is often spread through contaminated food and soil.
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Syphilis
Syphilis
A bacterial infection that can be passed from a pregnant mother to her fetus. It can cause severe complications such as miscarriage, stillbirth, and birth defects. It is usually treated with antibiotics.
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Calcifications
Calcifications
A characteristic feature of fetal toxoplasmosis infection, seen as white spots on imaging scans.
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Viral Infections that Can Cause Fetal Malformations
Viral Infections that Can Cause Fetal Malformations
A type of infection that can be caused by various viruses, including measles, mumps, hepatitis, polio, echovirus, coxsackie virus, and influenza. These infections can sometimes lead to birth defects.
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Cytomegalovirus
Cytomegalovirus
A virus that can cause birth defects, particularly impacting the brain and causing mental retardation.
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Rubella
Rubella
A virus that can be prevented through vaccination and antibody testing, significantly reducing the incidence of birth defects.
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Herpes Simplex Virus
Herpes Simplex Virus
A virus that can cause birth defects, including brain damage and mental retardation.
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Varicella Virus
Varicella Virus
A virus that can cause birth defects, resulting in various health problems.
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Human Immunodeficiency Virus (HIV)
Human Immunodeficiency Virus (HIV)
A virus that can cause birth defects, including severe immune system issues.
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Birth defect
Birth defect
Structural, behavioral, functional, and metabolic disorders present at birth.
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Teratology
Teratology
The study of birth defects.
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Dysmorphologist
Dysmorphologist
A specialist in the diagnosis and understanding of birth defects.
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Birth defects
Birth defects
The leading cause of infant mortality. They account for 21% of infant deaths.
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Birth defects
Birth defects
Birth defects are the fifth leading cause of years of potential life lost before age 65.
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Radiation as a Teratogen
Radiation as a Teratogen
Radiation can harm developing embryos, leading to a wide range of birth defects. The severity of these defects depends on the amount of radiation and the stage of development at the time of exposure.
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Radiation as a Mutagenic Agent
Radiation as a Mutagenic Agent
Radiation can damage the genetic material of germ cells (sperm and egg), leading to mutations and subsequent birth defects in the offspring.
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Teratogen
Teratogen
A teratogen is an agent that can cause birth defects in a developing embryo.
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Mutagenic Agent
Mutagenic Agent
A mutagenic agent is something that can cause changes in the genetic material of an organism.
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Hiroshima and Nagasaki Birth Defects
Hiroshima and Nagasaki Birth Defects
The atomic bomb explosions in Hiroshima and Nagasaki resulted in a high percentage of birth defects and deaths among children of women pregnant at the time.
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Malformations
Malformations
Occur during the formation of structures, such as during organogenesis. Caused by environmental or genetic factors.
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Deformations
Deformations
Result from mechanical forces that mold a part of the fetus over a prolonged period. Often involve the musculoskeletal system.
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Disruptions
Disruptions
Result in the morphological alteration of already formed structures. Caused by destructive processes.
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Clubfeet
Clubfeet
A common type of deformation affecting the feet.
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Bowel atresias
Bowel atresias
A common type of disruption affecting the intestines.
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Unknown Cause of Birth Defects
Unknown Cause of Birth Defects
The cause of birth defects is unknown in a significant number of cases, ranging from 40% to 60%.
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Genetic Factors in Birth Defects
Genetic Factors in Birth Defects
Genetic factors like chromosome abnormalities and gene mutations play a role in approximately 15% of birth defects.
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Environmental Factors in Birth Defects
Environmental Factors in Birth Defects
Environmental influences on a developing baby contribute to about 10% of birth defects.
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Combined Causes of Birth Defects
Combined Causes of Birth Defects
A combination of genetic and environmental factors is responsible for 20% to 25% of birth defects.
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Minor Anomalies in Newborns
Minor Anomalies in Newborns
Minor anomalies, such as small ears or pigmented spots, occur in about 15% of newborns. These anomalies are not harmful in themselves, but can indicate underlying major defects.
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Retrospective Studies
Retrospective Studies
The study of birth defects that examines the medical history of mothers and their children.
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Identifying Teratogens
Identifying Teratogens
The challenge of identifying a specific drug as a teratogen is difficult because pregnant women take many drugs, and some birth defects are common.
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Thalidomide & Limb Defects
Thalidomide & Limb Defects
Thalidomide, a drug used to treat nausea and sleep problems, was found to cause limb defects (amelia and meromelia).
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Susceptibility to teratogenesis
Susceptibility to teratogenesis
The likelihood of an agent causing birth defects depends on the genetic makeup of the developing baby and its interactions with the environment. The mother's genes also play a role in how her body metabolizes substances and fights infections, which can affect the baby.
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Susceptibility to teratogens
Susceptibility to teratogens
The sensitivity to teratogens varies throughout pregnancy. The most vulnerable period is the third to eighth week of gestation, during embryogenesis.
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Manifestations of abnormal development
Manifestations of abnormal development
The severity of birth defects depends on the amount of exposure to a teratogen and how long the exposure lasts.
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Specific mechanisms of action
Specific mechanisms of action
Teratogens can cause problems by interfering with specific processes within developing cells and tissues during embryogenesis.
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Manifestations of abnormal development
Manifestations of abnormal development
When an agent causes birth defects it can result in death, malformations, growth problems, or functional disorders.
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Infective Agents
- Infectious agents cause birth defects, including various viruses.
- Rubella was a significant cause of birth defects but is less of a concern now due to vaccination.
- Approximately 85% of women have immunity to rubella.
- Cytomegalovirus (CMV) is a severe threat, often asymptomatic in the mother but can cause devastating effects on the fetus.
- CMV infection is often fatal; if not, it results in mental retardation.
- Herpes simplex virus, varicella virus, and HIV can also cause birth defects.
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