Birth Defects Overview Quiz
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Questions and Answers

What is the term used for the study of birth defects?

  • Teratology and dysmorphology (correct)
  • Embryology
  • Pediatrics
  • Genomics

What percentage of liveborn infants are affected by major structural anomalies?

  • 4% to 5%
  • 2% to 3% (correct)
  • 1% to 2%
  • 5% to 6%

What is the leading cause of infant mortality?

  • Infectious diseases
  • Birth defects (correct)
  • Accidents
  • Premature birth

Which group of professionals typically studies birth defects in a clinical setting?

<p>Dysmorphologists (D)</p> Signup and view all the answers

What is a significant contributing factor to disabilities in children?

<p>Birth defects (A)</p> Signup and view all the answers

What is the significance of vaccines in relation to rubella and birth defects?

<p>Vaccines have reduced the incidence of birth defects from rubella. (C)</p> Signup and view all the answers

Which of the following infectious agents is known to frequently cause mental retardation in fetuses?

<p>Cytomegalovirus (B)</p> Signup and view all the answers

Approximately what percentage of women are currently immune to rubella?

<p>85% (D)</p> Signup and view all the answers

Which statement about cytomegalovirus infection in pregnant women is true?

<p>It can be fatal to the fetus. (D)</p> Signup and view all the answers

Which virus is NOT mentioned as a potential cause of birth defects?

<p>Ebola virus (C)</p> Signup and view all the answers

What percentage of birth defects have an unknown cause?

<p>40% to 60% (A)</p> Signup and view all the answers

Which factor accounts for the highest percentage of birth defects?

<p>Unknown causes (C)</p> Signup and view all the answers

What is the chance of having a major malformation in infants with two minor anomalies?

<p>10% (A)</p> Signup and view all the answers

What percentage of birth defects are attributed to twinning?

<p>0.5% to 1% (C)</p> Signup and view all the answers

Which type of anomalies often serve as diagnostic clues for serious underlying defects?

<p>Minor anomalies (B)</p> Signup and view all the answers

What is a characteristic feature of fetal infection with Toxoplasmosis?

<p>Presence of calcifications (A)</p> Signup and view all the answers

Which of the following infections is NOT associated with malformations?

<p>Toxoplasmosis (C)</p> Signup and view all the answers

Which of the following is a potential source of Toxoplasmosis infection for humans?

<p>Domestic animals, particularly cats (C)</p> Signup and view all the answers

What is the malformation rate following maternal infection with viruses such as measles and mumps?

<p>Low, if not nonexistent (C)</p> Signup and view all the answers

What is a common transmission route for the Toxoplasmosis parasite?

<p>Consumption of undercooked meat (D)</p> Signup and view all the answers

What type of abnormality is characterized by changes during the formation of structures due to genetic or environmental factors?

<p>Malformation (B)</p> Signup and view all the answers

Which type of abnormality is primarily caused by mechanical forces affecting the fetus over time?

<p>Deformation (B)</p> Signup and view all the answers

What is an example of a disruption caused by destructive processes?

<p>Vascular accidents (C)</p> Signup and view all the answers

During which weeks of gestation do most malformations originate?

<p>Third to eighth weeks (C)</p> Signup and view all the answers

Which abnormality is typically reversible after birth?

<p>Deformation (C)</p> Signup and view all the answers

What type of cells does ionizing radiation primarily affect, leading to the potential for birth defects?

<p>Rapidly proliferating cells (B)</p> Signup and view all the answers

What percentage of women who were pregnant during the Hiroshima and Nagasaki atomic bomb explosions gave birth to children with severe birth defects involving the central nervous system?

<p>25% (C)</p> Signup and view all the answers

Which statement accurately reflects the mutagenic effect of radiation?

<p>It can lead to genetic alteration of germ cells. (B)</p> Signup and view all the answers

During what stage of development can ionizing radiation produce birth defects?

<p>At any stage of development (A)</p> Signup and view all the answers

What defines a syndrome?

<p>A collection of anomalies that have a specific common cause. (B)</p> Signup and view all the answers

What is the main difference between a syndrome and an association?

<p>Syndromes have a known cause while associations do not. (D)</p> Signup and view all the answers

What was the percentage of women who aborted after the atomic bomb explosions in Hiroshima and Nagasaki?

<p>28% (D)</p> Signup and view all the answers

Which of the following is an example of an association?

<p>VACTERL association (B)</p> Signup and view all the answers

Why is recognizing associations important?

<p>It promotes the search for other abnormalities in the group. (A)</p> Signup and view all the answers

Which of the following statements is true regarding anomalies?

<p>A syndrome confirms the recurrence of anomalies based on a known cause. (C)</p> Signup and view all the answers

Which factor primarily influences the susceptibility to teratogenesis in an individual?

<p>Genotype of the conceptus (C)</p> Signup and view all the answers

During which stage of gestation is susceptibility to teratogens highest?

<p>Third to eighth weeks of gestation (D)</p> Signup and view all the answers

Which of the following manifestations of abnormal development is NOT commonly associated with teratogenic exposure?

<p>Genetic mutation (B)</p> Signup and view all the answers

What is a likely mechanism by which teratogens cause abnormal embryogenesis?

<p>Inhibiting specific biochemical processes (A)</p> Signup and view all the answers

Which of these factors does NOT influence the manifestations of abnormal development in a teratogenic context?

<p>Parental occupation (A)</p> Signup and view all the answers

What makes it challenging to assess the impact of chemical agents on human abnormalities?

<p>Retrospective studies relying on maternal memory and multiple drug use (C)</p> Signup and view all the answers

Which of the following drugs has been identified as teratogenic?

<p>Thalidomide (A)</p> Signup and view all the answers

Which abnormality was notably associated with thalidomide use during pregnancy?

<p>Amelia and meromelia (C)</p> Signup and view all the answers

What is a primary reason why the teratogenic effects of some drugs may go unnoticed?

<p>Connection to more common abnormalities not being recognized (C)</p> Signup and view all the answers

What factor contributes to the difficulty in identifying the effects of pharmaceutical drugs during pregnancy?

<p>Lack of detailed records on drug histories of mothers (B)</p> Signup and view all the answers

Flashcards

Viral Infections and Malformations

Malformations can occur in a fetus following maternal infection with various viruses such as measles, mumps, hepatitis, polio, echovirus, coxsackievirus, and influenza.

Toxoplasmosis

Toxoplasmosis is a parasitic infection that can cause birth defects in a fetus.

Toxoplasmosis Transmission

Toxoplasmosis can be transmitted through poorly cooked meat, domestic animals like cats, and contaminated soil.

Fetal Toxoplasmosis

A characteristic feature of fetal toxoplasmosis infection is calcifications.

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Syphilis

Syphilis is a sexually transmitted infection that can cause birth defects in a fetus.

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Cytomegalovirus

A virus that can cause birth defects, often without the mother experiencing any symptoms.

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Rubella

A viral infection that was a significant cause of birth defects in the past, but its impact has been reduced due to vaccination and antibody testing.

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Herpes simplex virus

A virus that can cause birth defects, including mental retardation.

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HIV

A virus that can cause birth defects and often leads to fatal infections in the fetus.

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Varicella virus

A virus that can cause birth defects if contracted by the mother during pregnancy.

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Syndrome

A combination of anomalies with a known common cause, leading to a specific diagnosis and predictable recurrence.

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Association

The non-random occurrence of two or more anomalies together more frequently than expected by chance, but the cause is unknown.

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Multiple Anomalies

A syndrome or association where multiple anomalies occur together, often with a known cause.

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Recognizing Components

The recognition of an anomaly in an association can help identify other potential abnormalities.

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Associations and Diagnosis

Associations don't provide a formal diagnosis, but they indicate a potential pattern and may help in further investigation.

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Radiation and Birth Defects

Ionizing radiation is harmful to developing organisms, causing damage to cells and leading to various birth defects.

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Radiation and Genetic Mutations

Radiation can cause genetic mutations in germ cells (sperm and egg), resulting in birth defects in future generations.

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Hiroshima and Nagasaki: A Teratogenic Legacy

The atomic bombs dropped on Hiroshima and Nagasaki provide a grim example of the teratogenic effects of radiation. Survivors experienced high rates of miscarriage, infant mortality, and severe birth defects.

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Radiation Dose and Developmental Stage

Radiation's ability to damage developing organisms makes it a potent teratogen. The severity of birth defects depends on the radiation dose and the stage of fetal development.

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What are Teratogens?

Teratogens are agents that can cause birth defects. Radiation, along with certain viruses and chemicals, is known to disrupt normal fetal development.

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What are birth defects?

Birth defects, congenital malformations, and congenital anomalies all refer to structural, behavioral, functional, or metabolic disorders present at birth.

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What is the study of birth defects called?

The study of birth defects is called teratology and dysmorphology.

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How common are birth defects?

Major structural anomalies impact around 2-3% of newborn infants.

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What is the impact of birth defects?

Birth defects are the leading cause of infant mortality, contributing to about 21% of infant deaths.

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What are the long-term consequences of birth defects?

Birth defects are a significant contributor to disabilities, leading to the fifth highest loss of potential life years before age 65.

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Malformations

Occur during the formation of structures, often influenced by both genetics and environmental factors. They are formed when something goes wrong in the development of an organ or body part.

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Deformations

Result from mechanical forces pressing on a fetus over a long period, often impacting the musculoskeletal system. These can sometimes be corrected after birth.

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Disruptions

Occur when already formed structures are damaged or altered due to destructive processes, like a disruption in blood flow or amniotic bands.

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When do most malformations occur?

The time period from the third to eighth week of gestation is crucial for development, and many malformations originate during this time.

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What is a common example of a deformation?

A common example of a deformation involves a fetus being squeezed in the amniotic cavity, which can lead to clubfeet.

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Susceptibility to teratogenesis

The genetic makeup of a developing organism and its interaction with the environment influence its susceptibility to birth defects.

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Susceptibility to teratogens

The stage of development during exposure to a teratogen drastically affects the likelihood and severity of birth defects. The period of embryogenesis (3rd to 8th week of gestation) is particularly vulnerable.

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Dose and duration of exposure

The amount and duration of exposure to a teratogen directly impacts the severity and type of birth defect.

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Mechanisms of teratogens

Teratogens disrupt normal development by interfering with cellular processes. Mechanisms include inhibiting specific biochemical pathways or causing cell death and altered cell growth.

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Manifestations of birth defects

Birth defects manifest as death before birth, physical malformations, slowed growth, or functional problems in the offspring.

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Unknown Cause of Birth Defects

In 40% to 60% of cases, the root cause of birth defects remains unknown.

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Genetic Factors in Birth Defects

These factors play a significant role in about 15% of birth defects, leading to changes in chromosomes or genes.

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Environmental Factors in Birth Defects

Environmental factors, like exposure to certain chemicals or infections, contribute to approximately 10% of birth defects.

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Combined Genetic and Environmental Factors

A combination of both genetic and environmental influences is responsible for 20% to 25% of birth defects.

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Minor Anomalies as Clues

Minor anomalies are small physical variations present at birth, like a small ear or a birthmark. While often harmless, they can sometimes signal more serious underlying conditions.

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Teratogen

A chemical agent that can cause birth defects in a developing fetus.

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Teratogenic Drugs

Drugs taken during pregnancy that are known to have harmful effects on the developing fetus. They are classified as teratogens.

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Challenges in Assessing Teratogens

The difficulty in identifying the role of chemical agents and pharmaceutical drugs in causing birth defects stems from two key factors: (1) most studies rely on retrospective information, depending on the mother's memory of exposure, and (2) pregnant women frequently take a vast number of pharmaceutical drugs.

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Thalidomide

A drug that causes birth defects, especially shortened or missing limbs (amelia and meromelia). It was commonly prescribed in the 1960s as an antinauseant and sleeping pill.

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Common Birth Defects and Teratogen Identification

The chance of identifying a drug's connection to a birth defect is reduced if the defect is a common occurrence, like cleft lip or a heart malformation. The association might be easily overlooked.

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Study Notes

Other Viral Infections and Hyperthermia

  • Malformations following maternal infection with measles, mumps, hepatitis, polio, echovirus, and Coxsackie virus, and influenza virus have been described.
  • Prospective studies show that the malformation rate after exposure to these agents is low if not nonexistent.
  • Toxoplasmosis and syphilis cause birth defects. Poorly cooked meat, domestic animals (especially cats), and feces in contaminated soil can carry the protozoan parasite Toxoplasma gondii.
  • A characteristic feature of fetal toxoplasmosis infection is calcifications.

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Description

Test your knowledge on the study of birth defects, including their causes, occurrence, and implications on infant health. Explore various factors contributing to disabilities and the significance of vaccination in preventing these conditions. This quiz is essential for anyone interested in pediatric health and developmental biology.

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