Questions and Answers
What is the primary effect of exposure during the pre-implantation and early embryonic stages of development?
What is the primary purpose of maternal AFP serum level screening?
What is a characteristic of anencephaly?
During which stage of development do malformations typically occur?
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What is a failure of a space to close properly an example of?
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What is the primary function of folic acid in preventing developmental diseases?
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What is the primary difference between meningocele and myelomeningocele?
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What is the term for the failure of an organ or body part to grow properly?
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What is the type of spina bifida that exposes nervous tissue without covering membranes?
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What is the result of a failure of an embryologic structure to disappear properly? (MACA)
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What is the term for a congenital defect resulting from failure of a tissue to divide?
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What is the term for the congenital defect resulting from failure of a tissue or organ to form or develop properly?
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What is the Potter Sequence an example of?
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What is the primary effect of ionizing radiation on cells?
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What is the effect of irradiation before implantation?
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What is Thalidomide, introduced in 1956?
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What type of radiation has been shown that normal light can affect development starting from the embryonic stage?
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What is the effect of irradiation during the later trimesters?
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What was thalidomide initially effective in treating? (MACA)
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What is the recommendation for alcohol consumption during pregnancy?
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What is the effect of cigarette smoking during pregnancy on the fetus?
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What is the main concern with the use of androgens during pregnancy?
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What is the effect of an absence of retinoic acid during fetal development?
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What is the effect of valproic acid on the fetus?
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What is a major risk associated with tonic-clonic seizures during pregnancy?
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What is a common cause of prematurity? (MACA)
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At what birth weight do premature babies have a 50% chance of survival?
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What is a characteristic of Neonatal Respiratory Distress Syndrome (NRDS)?
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What is the primary cause of death in neonates?
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What is the definition of Small for Gestational Age (SGA)?
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What is a common complication of prematurity in the baby?
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What is the birth weight threshold for a baby to be considered Low Birth Weight?
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During which stage of development do disruptions typically occur?
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What is the primary purpose of second-trimester ultrasound in relation to developmental diseases?
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What is the main identified deficiency associated with neural tube defects?
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What is anencephaly an example of?
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During which stage of development do malformations typically occur?
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What is the estimated number of infants born with Fetal Alcohol Syndrome (FAS) every year in the US?
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What is the primary concern with the use of thalidomide during pregnancy?
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What is the effect of cigarette smoking during pregnancy on the fetus?
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What is the effect of valproic acid on the fetus?
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What was DES (Diethinylstilboestrol) initially used to treat?
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What is the type of cancer that females who were exposed to diethylstilboestrol (DES) in-utero are at a higher risk of developing?
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Which of the following is a characteristic of Congenital Rubella Syndrome?
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What is the primary mode of transmission of Herpes to the embryo or fetus?
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Which of the following is a component of the TORCH syndrome?
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What is the effect of Toxoplasmosis on the mother?
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What is a potential complication of a pre-diabetic mother's diabetes becoming more difficult to control during pregnancy?
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What is a characteristic of toxemia of pregnancy?
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Which of the following is NOT a component of the TORCH syndrome?
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What is the effect of Cytomegalovirus on the developing embryo or fetus?
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What is a potential outcome of poor placental perfusion and poor trophoblastic invasion in toxemia of pregnancy?
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What is the effect of maternal infection on the developing embryo or fetus?
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What is a characteristic of eclampsia?
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What is a potential complication of pre-existing hypertension during pregnancy?
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What is a potential outcome of arteriolosclerosis of uterine arteries in a pre-diabetic mother?
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What is the primary cause of hypoxia in a premature baby shortly after birth?
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What is the purpose of measuring lecithin/sphingomyelin levels in amniotic fluid?
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What is a common complication of prematurity in the cardiovascular system?
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Why are premature babies more susceptible to bacterial sepsis?
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What is the approximate incidence of necrotizing enterocolitis in very low birth weight infants?
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What is the primary cause of Retinopathy of Prematurity (ROP)?
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What is a characteristic of Neonatal Respiratory Distress Syndrome (NRDS)?
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Why do premature babies experience more respiratory problems?
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What is the main effect of ionizing radiation on cells?
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What is the effect of irradiation during the first trimester?
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What is Thalidomide?
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What is the effect of nonionizing radiation on development?
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What is the Potter Sequence an example of?
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What type of defect occurs when a fetus is affected by outside influences, usually during the last few weeks of pregnancy?
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What is the consequence of a failure of a tissue to divide?
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What is the type of spina bifida that involves herniation of the meninges and spinal tissue?
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What is the term for the failure of an organ to end up in its proper position? (MACA)
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What is the result of a failure of an organ to mature properly?
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What is the consequence of a complete spina bifida?
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What is a common way that a baby can contract gonorrhea?
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What is a possible complication of gestational diabetes for the baby?
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What is a characteristic of congenital syphilis?
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How can a baby contract HIV?
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What is a complication of gestational diabetes for the mother?
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What is Ophthalmia Neonatorum?
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What is a possible long-term effect of congenital syphilis?
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What is a major risk associated with tonic-clonic seizures during pregnancy?
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What is the definition of Low Birth Weight?
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What is a common complication of prematurity in the baby?
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What is a common cause of prematurity?
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What is the incidence of Low Birth Weight among black populations?
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What is the primary consequence of a baby experiencing Neonatal Respiratory Distress Syndrome (NRDS)?
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What is the test used to determine if the lungs of a fetus are mature?
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What is a common cardiovascular problem in premature babies?
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What is the term for the inflammatory disease that can occur in the intestines of premature babies?
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Why do premature babies require ventilatory support?
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What is a complication of therapeutic hyperoxygenation in premature babies?
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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)
- Neural tube defects
- 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
- Thalidomide:
- 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
- Cigarette smoking during pregnancy:
- Maternal diseases:
- Renal disease:
- Mostly growth restriction and vasculitis/arteriolosclerosis of the baby's blood vessels
- Renal disease:
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
- Neural tube defects
- 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
- Syphilis:
- 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
- Diabetes mellitus:
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
- Definitions:
- 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
- Causes:
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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.