Week 9 - Congenital Diseases and Teratogens
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Questions and Answers

What is the primary effect of exposure during the pre-implantation and early embryonic stages of development?

  • Disruptions
  • Deformations
  • Either the conceptus is lost or non-affected cells replace and recover with no apparent effect (correct)
  • Malformations

    • What is the primary purpose of maternal AFP serum level screening?

  • To detect chromosomal abnormalities
  • To detect neural tube defects
  • To detect fetal growth and maturation disruptions
  • To detect all of the above (correct)

    • What is a characteristic of anencephaly?

  • Unable to feel pain
  • Blind and deaf
  • All of the above (correct)
  • Unaware of its surroundings

    • During which stage of development do malformations typically occur?

    <p>Late embryonic stage</p> Signup and view all the answers

    What is a failure of a space to close properly an example of?

    <p>Malformation</p> Signup and view all the answers

    What is the primary function of folic acid in preventing developmental diseases?

    <p>Preventing neural tube defects</p> Signup and view all the answers

    What is the primary difference between meningocele and myelomeningocele?

    <p>Myelomeningocele involves herniation of spinal tissue, while meningocele does not</p> Signup and view all the answers

    What is the term for the failure of an organ or body part to grow properly?

    <p>Hypoplasia</p> Signup and view all the answers

    What is the type of spina bifida that exposes nervous tissue without covering membranes?

    <p>Complete spina bifida</p> Signup and view all the answers

    What is the result of a failure of an embryologic structure to disappear properly? (MACA)

    <p>Thyroglossal duct cyst</p> Signup and view all the answers

    What is the term for a congenital defect resulting from failure of a tissue to divide?

    <p>Syndactyly</p> Signup and view all the answers

    What is the term for the congenital defect resulting from failure of a tissue or organ to form or develop properly?

    <p>All of the above</p> Signup and view all the answers

    What is the Potter Sequence an example of?

    <p>A cascade of events due to lack of amniotic fluid</p> Signup and view all the answers

    What is the primary effect of ionizing radiation on cells?

    <p>Direct change to molecules in cells</p> Signup and view all the answers

    What is the effect of irradiation before implantation?

    <p>Conceptus death</p> Signup and view all the answers

    What is Thalidomide, introduced in 1956?

    <p>A sedative that was never tested on pregnant women</p> Signup and view all the answers

    What type of radiation has been shown that normal light can affect development starting from the embryonic stage?

    <p>Nonionizing radiation</p> Signup and view all the answers

    What is the effect of irradiation during the later trimesters?

    <p>Deformation, fibrosis, miscarriage, and stillbirth</p> Signup and view all the answers

    What was thalidomide initially effective in treating? (MACA)

    <p>Coughs, colds, and headaches</p> Signup and view all the answers

    What is the recommendation for alcohol consumption during pregnancy?

    <p>No alcohol during pregnancy at all</p> Signup and view all the answers

    What is the effect of cigarette smoking during pregnancy on the fetus?

    <p>Increased risk of preterm delivery and low birth weight</p> Signup and view all the answers

    What is the main concern with the use of androgens during pregnancy?

    <p>Increased risk of birth defects and complications</p> Signup and view all the answers

    What is the effect of an absence of retinoic acid during fetal development?

    <p>Malformations affecting multiple organ systems</p> Signup and view all the answers

    What is the effect of valproic acid on the fetus?

    <p>Increased risk of malformations affecting multiple organ systems</p> Signup and view all the answers

    What is a major risk associated with tonic-clonic seizures during pregnancy?

    <p>Fetal hypoxia and ischemia</p> Signup and view all the answers

    What is a common cause of prematurity? (MACA)

    <p>Uterine abnormalities</p> Signup and view all the answers

    At what birth weight do premature babies have a 50% chance of survival?

    <p>&lt; 1500g</p> Signup and view all the answers

    What is a characteristic of Neonatal Respiratory Distress Syndrome (NRDS)?

    <p>Lack of surfactant due to immature lungs</p> Signup and view all the answers

    What is the primary cause of death in neonates?

    <p>Prematurity and low birth weight</p> Signup and view all the answers

    What is the definition of Small for Gestational Age (SGA)?

    <p>Normal age but small weight</p> Signup and view all the answers

    What is a common complication of prematurity in the baby?

    <p>All the above</p> Signup and view all the answers

    What is the birth weight threshold for a baby to be considered Low Birth Weight?

    <p>&lt; 2500g</p> Signup and view all the answers

    During which stage of development do disruptions typically occur?

    <p>Fetal stage</p> Signup and view all the answers

    What is the primary purpose of second-trimester ultrasound in relation to developmental diseases?

    <p>To detect neural tube defects</p> Signup and view all the answers

    What is the main identified deficiency associated with neural tube defects?

    <p>Folic acid deficiency</p> Signup and view all the answers

    What is anencephaly an example of?

    <p>Neural tube defect</p> Signup and view all the answers

    During which stage of development do malformations typically occur?

    <p>Late embryonic stage</p> Signup and view all the answers

    What is the estimated number of infants born with Fetal Alcohol Syndrome (FAS) every year in the US?

    <p>40,000</p> Signup and view all the answers

    What is the primary concern with the use of thalidomide during pregnancy?

    <p>Neurological defects and phocomelia</p> Signup and view all the answers

    What is the effect of cigarette smoking during pregnancy on the fetus?

    <p>All of the above</p> Signup and view all the answers

    What is the effect of valproic acid on the fetus?

    <p>Increased risk of CNS and facial defects</p> Signup and view all the answers

    What was DES (Diethinylstilboestrol) initially used to treat?

    <p>Recurrent miscarriages</p> Signup and view all the answers

    What is the type of cancer that females who were exposed to diethylstilboestrol (DES) in-utero are at a higher risk of developing?

    <p>Clear cell adenocarcinoma of the vagina</p> Signup and view all the answers

    Which of the following is a characteristic of Congenital Rubella Syndrome?

    <p>Mild symptoms in the mother, but devastating effects on the embryo during the first trimester</p> Signup and view all the answers

    What is the primary mode of transmission of Herpes to the embryo or fetus?

    <p>Through the birth canal with active lesions of genital herpes</p> Signup and view all the answers

    Which of the following is a component of the TORCH syndrome?

    <p>All of the above</p> Signup and view all the answers

    What is the effect of Toxoplasmosis on the mother?

    <p>Mild problem</p> Signup and view all the answers

    What is a potential complication of a pre-diabetic mother's diabetes becoming more difficult to control during pregnancy?

    <p>Increased risk of hypertension</p> Signup and view all the answers

    What is a characteristic of toxemia of pregnancy?

    <p>Hypertension and albuminuria</p> Signup and view all the answers

    Which of the following is NOT a component of the TORCH syndrome?

    <p>Cystic fibrosis</p> Signup and view all the answers

    What is the effect of Cytomegalovirus on the developing embryo or fetus?

    <p>Can cause problems even in the third trimester</p> Signup and view all the answers

    What is a potential outcome of poor placental perfusion and poor trophoblastic invasion in toxemia of pregnancy?

    <p>Fetal growth restriction</p> Signup and view all the answers

    What is the effect of maternal infection on the developing embryo or fetus?

    <p>Can cause problems in the TORCH syndrome</p> Signup and view all the answers

    What is a characteristic of eclampsia?

    <p>Seizures in a woman with pre-eclampsia</p> Signup and view all the answers

    What is a potential complication of pre-existing hypertension during pregnancy?

    <p>Blood pressure management that may put her kidney function at risk</p> Signup and view all the answers

    What is a potential outcome of arteriolosclerosis of uterine arteries in a pre-diabetic mother?

    <p>Baby of a low birth weight</p> Signup and view all the answers

    What is the primary cause of hypoxia in a premature baby shortly after birth?

    <p>Impaired exchange of oxygen in the lungs due to immature lung development</p> Signup and view all the answers

    What is the purpose of measuring lecithin/sphingomyelin levels in amniotic fluid?

    <p>To determine the maturity of the fetus' lungs</p> Signup and view all the answers

    What is a common complication of prematurity in the cardiovascular system?

    <p>All of the above</p> Signup and view all the answers

    Why are premature babies more susceptible to bacterial sepsis?

    <p>Both a and b</p> Signup and view all the answers

    What is the approximate incidence of necrotizing enterocolitis in very low birth weight infants?

    <p>1 in 10</p> Signup and view all the answers

    What is the primary cause of Retinopathy of Prematurity (ROP)?

    <p>Oxygen therapy</p> Signup and view all the answers

    What is a characteristic of Neonatal Respiratory Distress Syndrome (NRDS)?

    <p>Formation of a 'hyaline membrane' on the inside of the alveoli</p> Signup and view all the answers

    Why do premature babies experience more respiratory problems?

    <p>Because their lungs are not fully developed</p> Signup and view all the answers

    What is the main effect of ionizing radiation on cells?

    <p>Changes molecules in the cells directly or indirectly</p> Signup and view all the answers

    What is the effect of irradiation during the first trimester?

    <p>Miscarriage and major genetic and chromosomal abnormalities</p> Signup and view all the answers

    What is Thalidomide?

    <p>A chemical substance that causes congenital abnormalities</p> Signup and view all the answers

    What is the effect of nonionizing radiation on development?

    <p>Multifactorial and modulating effects on development</p> Signup and view all the answers

    What is the Potter Sequence an example of?

    <p>A deformation event due to lack of amniotic fluid</p> Signup and view all the answers

    What type of defect occurs when a fetus is affected by outside influences, usually during the last few weeks of pregnancy?

    <p>Deformation</p> Signup and view all the answers

    What is the consequence of a failure of a tissue to divide?

    <p>Syndactyly</p> Signup and view all the answers

    What is the type of spina bifida that involves herniation of the meninges and spinal tissue?

    <p>Myelomeningocele</p> Signup and view all the answers

    What is the term for the failure of an organ to end up in its proper position? (MACA)

    <p>Ectopia</p> Signup and view all the answers

    What is the result of a failure of an organ to mature properly?

    <p>Immaturity</p> Signup and view all the answers

    What is the consequence of a complete spina bifida?

    <p>All of the above</p> Signup and view all the answers

    What is a common way that a baby can contract gonorrhea?

    <p>By passage through an infected birth canal</p> Signup and view all the answers

    What is a possible complication of gestational diabetes for the baby?

    <p>Premature delivery with a large birth weight and potential breathing problems</p> Signup and view all the answers

    What is a characteristic of congenital syphilis?

    <p>All of the above</p> Signup and view all the answers

    How can a baby contract HIV?

    <p>All of the above</p> Signup and view all the answers

    What is a complication of gestational diabetes for the mother?

    <p>Risk of complications during pregnancy</p> Signup and view all the answers

    What is Ophthalmia Neonatorum?

    <p>An eye infection in newborns</p> Signup and view all the answers

    What is a possible long-term effect of congenital syphilis?

    <p>All of the above</p> Signup and view all the answers

    What is a major risk associated with tonic-clonic seizures during pregnancy?

    <p>Diaphragm spasm leading to hypoxia and ischemia for both mother and baby</p> Signup and view all the answers

    What is the definition of Low Birth Weight?

    <p>Less than 5 lbs or 2500g</p> Signup and view all the answers

    What is a common complication of prematurity in the baby?

    <p>Neonatal Respiratory Distress Syndrome (NRDS)</p> Signup and view all the answers

    What is a common cause of prematurity?

    <p>All the above</p> Signup and view all the answers

    What is the incidence of Low Birth Weight among black populations?

    <p>12%</p> Signup and view all the answers

    What is the primary consequence of a baby experiencing Neonatal Respiratory Distress Syndrome (NRDS)?

    <p>Formation of a &quot;hyaline membrane&quot; on the inside of the alveoli</p> Signup and view all the answers

    What is the test used to determine if the lungs of a fetus are mature?

    <p>Measuring the lecithin/sphingomyelin levels in the amniotic fluid</p> Signup and view all the answers

    What is a common cardiovascular problem in premature babies?

    <p>Patent ductus arteriosus (PDA)</p> Signup and view all the answers

    What is the term for the inflammatory disease that can occur in the intestines of premature babies?

    <p>Necrotizing enterocolitis</p> Signup and view all the answers

    Why do premature babies require ventilatory support?

    <p>Because their lungs are not mature enough to exchange oxygen properly</p> Signup and view all the answers

    What is a complication of therapeutic hyperoxygenation in premature babies?

    <p>Retinopathy of prematurity</p> Signup and view all the answers

    Study Notes

    Developmental Diseases

    • Effects on different developmental stages:
      • Pre-implantation (1-2 weeks) and early embryonic stage (2-3 weeks): conceptus is lost or non-affected cells replace and recover with no apparent effect (20% not surviving)
      • Late embryonic stage (up to 8 weeks): formation of primitive organ systems → malformations
      • Fetal stage (from 9th week after fertilization): growth and maturation → disruptions, deformations

    Malformations

    • Failure of a space to close properly:
      • Neural tube defects
        • Folic acid deficiency and B12
        • Second-trimester ultrasound and Alpha-fetoprotein screening for neural tube defects, Down syndrome, and other chromosomal abnormalities
      • Anencephaly:
        • Usually blind, deaf, unaware of surroundings, and unable to feel pain
        • Born with a main brainstem, having almost all primitive reflexes of a newborn
      • Spina bifida:
        • Spina bifida occulta: osseous defects only
        • Meningocele: herniation of meninges but not spinal tissue – no/minor neurological symptoms
        • Myelomeningocele: herniation of meninges and spinal tissue → neurological symptoms (sensory & motor loss from affected nerves), Arnold-Chiari malformation
        • Complete spina bifida: exposure of nervous tissue without covering membranes – as previous plus infections (meningitis)
    • Failure of a tissue to divide:
      • Syndactyly
    • Failure of an embryologic structure to disappear properly:
      • Thyroglossal duct cyst – from thyroid descent
      • Meckel's diverticulum – from the vitelline duct or yolk stalk
    • Failure of a tissue or organ to form or develop properly:
      • Agenesis
      • Aplasia
      • Hypoplasia
      • Dysplasia

    During the Fetal Period

    • Failure of an organ or body part to grow properly – hypoplasia
    • Failure of an organ to end up in its proper position – ectopia, dystopia
    • Failure of an organ to mature properly
    • Deformations – fetus affected by outside influences, usually occurring during the last few weeks of pregnancy when the fetus can be compressed by the uterine wall
    • Failure of the whole organism to grow: low birth weight baby

    Teratogenic Agents Causing Congenital Abnormalities

    • Irradiation:
      • Mostly ionizing radiation: penetrating high-energy radiation
      • Direct action: changes molecules in cells
      • Indirect action: causes formation of free radicals that damage cells
      • Effects depending on exposure and timing of pregnancy
    • Chemical substances:
      • Thalidomide:
        • Introduced in 1956 as a sedative, but not tested on pregnant women
        • Particularly effective antiemetic and morning sickness remedy
        • Neurological defects, limb abnormalities (phocomelia), 40% died in the first year
        • Taken off the market in November 1961, leading to the death of approximately 2,000 children and serious birth defects in >20,000 children
      • Fetal Alcohol Syndrome (FAS):
        • Affects 1 in 100 live births, approximately 40,000 infants born every year
        • Leading known and preventable cause of mental retardation and birth defects
        • Effect is most likely seen with binge-drinking rather than low-level exposures, but the level at which this occurs is unclear
    • Infections (maternal):
      • Cigarette smoking during pregnancy:
        • Higher likelihood of abnormalities of fingers and toes
        • Increases the risk of miscarriage
        • Increases the risk of complications
        • Increases the risk of preterm delivery
        • Increases the risk of having a low birth weight baby with increased risk of death
        • Increases the risk of the child developing behavioral problems
    • Maternal diseases:
      • Renal disease:
        • Mostly growth restriction and vasculitis/arteriolosclerosis of the baby's blood vessels

    Pediatric Diseases

    • Age distinctions and causes of death:
      • Neonatal, birth – 1 month: prematurity, low birth weight, congenital abnormalities, complications at or around birth (mother & placenta), sepsis, NRDS, hypoxia/asphyxia
      • Infancy, 1 month – 1 year: congenital abnormalities, SIDS, prematurity & low birth weight, infections, NRDS
      • Early childhood, 1 – 5 years old: accidents, congenital abnormalities, assault, neoplasm
      • Late childhood, 5 – 9 years old: accidents, neoplasm, congenital abnormalities, assault, infections

    Prematurity and Intrauterine Growth Retardation

    • Definitions:
      • Low Birth Weight: less than 5 lbs or 2500g
      • Prematurity: less than 37 weeks of pregnancy
      • AGA: appropriate for gestational age, may be of low weight due to prematurity
      • SGA: small for gestational age, may be normal age but small weight
    • Incidence of low birth weight: 12% in blacks, majority are SGA
    • Prognosis:
      • 500-600g (1.5 lbs): 2% survive
      • 1% < 1500g (3 lbs) VLBW: 50% survive
      • 1250g > 2 ½ lbs: 90% survive

    Developmental Diseases

    • Effects of exposure to toxins/substances on different developmental stages:
      • Pre-implantation (1-2 weeks) and early embryonic stage (2-3 weeks): conceptus is lost or non-affected cells can recover with no apparent effect (20% not surviving)
      • Late embryonic stage (up to 8 weeks): formation of primitive organ systems → malformations
      • Fetal stage (from 9th week after fertilization): growth and maturation → disruptions, deformations

    Malformations

    • Failure of spaces to close properly:
      • Neural tube defects
        • Folic acid deficiency is a major risk factor
        • Second-trimester ultrasound and Alpha-fetoprotein screening can detect neural tube defects, Down syndrome, and other chromosomal abnormalities
    • Specific malformations:
      • Anencephaly: usually blind, deaf, unaware of surroundings, and unable to feel pain
      • Phocomelia: limb abnormalities
      • 40% mortality rate in the first year

    Fetal Developmental Disorders

    • Fetal Alcohol Syndrome (FAS):
      • Affects 1 in 100 live births (approximately 40,000 infants/year)
      • Leading known and preventable cause of mental retardation and birth defects
      • Characteristics: impulse control issues, disconnection of cause-effect, and mental retardation
    • Fetal Alcohol Effects (FAE): milder symptoms than FAS, but still present
    • No safe level of alcohol consumption during pregnancy

    Other Teratogens

    • Cigarette smoking during pregnancy:
      • Increases risk of abnormalities in fingers and toes
      • Increases risk of miscarriage, complications, preterm delivery, and low birth weight
      • Increases risk of behavioral problems in the child
    • Androgens (anabolic steroids/steroids): teratogenic effects
    • Valproic acid (antiepileptic): teratogenic effects
    • Retinoic acid (derivative of vitamin A):
      • Malformations affecting multiple organ systems in cases of absence
      • CNS, cardiac, and facial defects in cases of excess
    • DES (Diethinylstilboestrol): increased risk of clear cell adenocarcinoma of the vagina, cervical abnormalities, and breast cancer in females; epididymal cysts in males

    Maternal Infections

    • TORCH syndrome:
      • Toxoplasmosis: contracted through cat litter, affects fetus after 4th month
      • Rubella: causes devastating effects in the embryo, especially during the first trimester
      • Cytomegalovirus: can infect the embryo or fetus, causing problems even in the third trimester
      • Herpes: can infect the embryo through the mother's blood or during passage through the birth canal
    • Components of TORCH syndrome:
      • Microcephaly
      • Hepatosplenomegaly, anemia, jaundice
      • Petechiae, purpurae
      • Chorioretinitis or conjunctivitis

    Maternal Complications

    • Pre-diabetic mother:
      • At risk for developing complications associated with pregnancy
      • Baby at risk for congenital abnormalities, miscarriage, and premature delivery
    • Pre-existing hypertension:
      • Mother at risk for developing complications associated with pregnancy
      • Blood pressure management may put kidney function at risk
    • Toxemia of pregnancy:
      • Pre-eclampsia: characterized by high blood pressure, proteinuria/albuminuria, and abnormal placental development
      • Eclampsia: onset of seizures in a woman with pre-eclampsia

    Congenital Abnormalities

    • Born with a main brainstem, having almost all the primitive reflexes of a newborn, including auditory, vestibular, touch, and pain
    • Spina bifida:
      • Spina bifida occulta: osseous defects only
      • Meningocele: herniation of meninges but not spinal tissue, with minor or no neurological symptoms
      • Myelomeningocele: herniation of meninges and spinal tissue, leading to neurological symptoms and Arnold-Chiari malformation
      • Complete spina bifida: exposure of nervous tissue without covering membranes, leading to infections and other symptoms
    • Cardiac abnormalities: ASD or VSD
    • Failure of tissue to divide:
      • Syndactyly
      • Failure of embryologic structure to disappear properly:
        • Thyroglossal duct cyst (from thyroid descent)
        • Meckel's diverticulum (from the vitelline duct or yolk stalk)

    Fetal Development Abnormalities

    • Failure of a tissue or organ to form or develop properly:
      • Agenesis
      • Aplasia
      • Hypoplasia
      • Dysplasia
    • Failure of an organ or body part to grow properly:
      • Hypoplasia
      • Ectopia or dystopia (failure of an organ to end up in its proper position)
    • Deformations:
      • Fetus affected by outside influences, usually occurring during the last few weeks of pregnancy when the fetus can be compressed by the uterine wall
      • Example: The Potter Sequence, a cascade of events due to lack of amniotic fluid
    • Failure of the whole organism to grow: Low birth weight baby

    Teratogenic Agents

    • Irradiation:
      • Mostly ionizing radiation (penetrating high-energy radiation)
      • Direct action: changes molecules in cells
      • Indirect action: causes formation of free radicals that damage cells
      • Effects depend on exposure and timing of pregnancy
    • Drugs and chemicals:
      • Thalidomide
    • Infections (maternal):
      • Syphilis:
        • Fetal syphilis from mother with secondary syphilis (blood disseminated)
        • Neonate has secondary syphilis (before 2 years old)
        • Late syphilis (after 2 years old): tertiary syphilis
      • HIV:
        • Contracted across the placenta
        • Contracted by exposure to blood during labor and delivery
        • Contracted in breast milk
      • Gonorrhea:
        • Contracted by passage through an infected birth canal
        • Causes Ophthalmia Neonatorum
    • Maternal diseases:
      • Diabetes mellitus:
        • Gestational diabetes (develops in the last trimester of pregnancy and goes away after birth)
        • Affects 4% of pregnancies in the US
      • Renal disease:
        • Mostly growth restriction and vasculitis/arteriolosclerosis of the baby's blood vessels

    Pediatric Diseases

    • Age distinctions and causes of death:
      • Neonatal (birth to 1 month): prematurity, low birth weight, congenital abnormalities, complications at or around birth, sepsis, NRDS, hypoxia/asphyxia
      • Infancy (1 month to 1 year): congenital abnormalities, SIDS, prematurity, low birth weight, infections, NRDS
      • Early childhood (1 to 5 years old): accidents, congenital abnormalities, assault, neoplasm
      • Late childhood (5 to 9 years old): accidents, neoplasm, congenital abnormalities, assault, infections
    • Prematurity and intrauterine growth retardation:
      • Definitions:
        • Low birth weight: less than 5 lbs or 2500g
        • Prematurity: less than 37 weeks of pregnancy
        • AGA: appropriate for gestation age
        • SGA: small for gestational age
      • Incidence: 12% in blacks, mostly SGA
      • Prognosis:
        • 500-600g (1.5 lbs): 2% survive
        • 1% < 1500g (3 lbs): 50% survive
        • 1250g (2 ½ lbs): 90% survive
    • Premature birth:
      • Causes:
        • Premature rupture of membranes
        • Maternal illness, including intrauterine infections
        • Uterine abnormalities
        • Placenta abnormalities
        • Fetal disorders
        • Multiple gestation
        • Unknown
      • Associated diseases in the baby after birth due to immaturity of organs:
        • Neonatal respiratory distress syndrome (NRDS)
        • Cardiovascular problems
        • Bacterial sepsis
        • Necrotizing enterocolitis

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    Teratogenic Agents & Pediatric Diseases - Notes PDF

    Description

    This quiz covers the effects of developmental diseases and teratogens on different stages of development, from pre-implantation to late embryonic stage. Learn how exposure to teratogens can result in malformations and other effects on the fetus.

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