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Questions and Answers
What is the primary consequence of maternal hyperglycemia-induced fetal hyperinsulinemia?
What is the primary consequence of maternal hyperglycemia-induced fetal hyperinsulinemia?
Which environmental factor is associated with a reduction in the incidence of neural tube defects?
Which environmental factor is associated with a reduction in the incidence of neural tube defects?
What is a consequence of multifactorial inheritance in congenital malformations?
What is a consequence of multifactorial inheritance in congenital malformations?
Which of the following is NOT a major anomaly associated with diabetic embryopathy?
Which of the following is NOT a major anomaly associated with diabetic embryopathy?
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Which drug is NOT listed as a factor contributing to congenital malformations?
Which drug is NOT listed as a factor contributing to congenital malformations?
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What is a primary characteristic that distinguishes congenital anomalies from acquired conditions in infancy?
What is a primary characteristic that distinguishes congenital anomalies from acquired conditions in infancy?
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Which type of fetal hydrops results from immune responses, generally indicated by the presence of antibodies against fetal red blood cells?
Which type of fetal hydrops results from immune responses, generally indicated by the presence of antibodies against fetal red blood cells?
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Which inborn error of metabolism is characterized by the inability to metabolize phenylalanine, leading to potential developmental delays if not managed?
Which inborn error of metabolism is characterized by the inability to metabolize phenylalanine, leading to potential developmental delays if not managed?
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Which condition is primarily linked to environmental factors affecting infants and is especially concerning within the first year of life?
Which condition is primarily linked to environmental factors affecting infants and is especially concerning within the first year of life?
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Tumors that typically arise during infancy and childhood include which of the following?
Tumors that typically arise during infancy and childhood include which of the following?
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What is a significant risk factor that can contribute to perinatal infections?
What is a significant risk factor that can contribute to perinatal infections?
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Which benign tumor commonly occurs in infants is characterized by a proliferation of blood vessels?
Which benign tumor commonly occurs in infants is characterized by a proliferation of blood vessels?
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What type of fetal hydrops is primarily due to structural abnormalities such as cardiac defects?
What type of fetal hydrops is primarily due to structural abnormalities such as cardiac defects?
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Which of the following is a common cause of congenital anomalies?
Which of the following is a common cause of congenital anomalies?
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What is the significance of chromosomal syndromes in congenital malformations?
What is the significance of chromosomal syndromes in congenital malformations?
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Which of the following describes a potential risk factor for fetal hydrops?
Which of the following describes a potential risk factor for fetal hydrops?
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Fetal alcohol syndrome is primarily categorized under which type of cause for congenital anomalies?
Fetal alcohol syndrome is primarily categorized under which type of cause for congenital anomalies?
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Which of the following is NOT typically associated with inborn errors of metabolism?
Which of the following is NOT typically associated with inborn errors of metabolism?
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What is a potential outcome of fetal compression due to oligohydramnios?
What is a potential outcome of fetal compression due to oligohydramnios?
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Which syndrome is characterized by multiple congenital malformations and is chromosomally based?
Which syndrome is characterized by multiple congenital malformations and is chromosomally based?
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Sudden infant death syndrome (SIDS) is most commonly believed to be triggered by:
Sudden infant death syndrome (SIDS) is most commonly believed to be triggered by:
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What is a commonality between Turner syndrome and Klinefelter syndrome?
What is a commonality between Turner syndrome and Klinefelter syndrome?
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Which of the following conditions is a common type of tumor or tumorlike lesion in infancy?
Which of the following conditions is a common type of tumor or tumorlike lesion in infancy?
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What is the relationship between the severity of anomalies and the likelihood of live birth?
What is the relationship between the severity of anomalies and the likelihood of live birth?
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Which of the following statements about malformations is true?
Which of the following statements about malformations is true?
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What implications do internal anomalies have on external dysmorphogenesis?
What implications do internal anomalies have on external dysmorphogenesis?
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Which disorder is specifically mentioned as leading to stillbirth due to severe malformation?
Which disorder is specifically mentioned as leading to stillbirth due to severe malformation?
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What percentage of fertilized ova are suggested to be blighted at early stages?
What percentage of fertilized ova are suggested to be blighted at early stages?
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What factor is fundamental in the pathogenesis of deformities discussed?
What factor is fundamental in the pathogenesis of deformities discussed?
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Which of the following conditions represents a less serious cause of death in infancy?
Which of the following conditions represents a less serious cause of death in infancy?
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What is a common outcome for fertilized ova that are anomalous but compatible with early fetal development?
What is a common outcome for fertilized ova that are anomalous but compatible with early fetal development?
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What does the presence of severe malformations generally imply about further development?
What does the presence of severe malformations generally imply about further development?
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What developmental abnormality is indicated by the fusion or ill-formed midface structures?
What developmental abnormality is indicated by the fusion or ill-formed midface structures?
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Which condition is most associated with mortality in infants aged 1 to 4 years?
Which condition is most associated with mortality in infants aged 1 to 4 years?
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Which of the following represents a congenital anomaly that may not be clinically apparent until later in childhood?
Which of the following represents a congenital anomaly that may not be clinically apparent until later in childhood?
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In the context of fetal hydrops, which of the following is a prominent cause?
In the context of fetal hydrops, which of the following is a prominent cause?
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Which age group is most likely to experience tumors and tumor-like lesions?
Which age group is most likely to experience tumors and tumor-like lesions?
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What common misconception surrounds congenital anomalies?
What common misconception surrounds congenital anomalies?
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Which of the following symptoms is associated with sudden infant death syndrome (SIDS)?
Which of the following symptoms is associated with sudden infant death syndrome (SIDS)?
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Which condition can lead to significant morbidity and mortality, particularly during the perinatal period?
Which condition can lead to significant morbidity and mortality, particularly during the perinatal period?
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Study Notes
Diseases of Infancy and Childhood
- Children's diseases differ from adult diseases, often unique to childhood stages
- Perinatal period diseases are significant factors in morbidity and mortality, with survival chances increasing weekly
- US infant mortality rate declined from 20 per 1000 live births in 1970 to 5.8 in 2014
- African American infant mortality rate remains higher than that of American whites
- Worldwide, infant mortality rates vary widely, with significantly higher rates in some regions
- Leading causes of death in the first 12 months include congenital anomalies, prematurity, low birth weight, SIDS, and maternal complications
- After the first year, unintentional injuries from accidents are the leading cause of death, followed by congenital anomalies and malignant neoplasms
- Congenital anomalies are structural defects present at birth; some may not become apparent until later in life
- Approximately 1 in 33 babies born in the US have a birth defect (congenital anomaly) each year
- Congenital anomalies may not always have a clear genetic basis
Congenital Anomalies
- Malformations are primary errors in morphogenesis, inherent to the abnormal development process.
- Disruptions are a consequence of secondary damage to previously normal structures due to external influences
- Deformations result from extrinsic disturbances and external forces, impacting about 2% of newborns
- A sequence is a cascade of anomalies triggered by a single initial abnormality.
- A syndrome refers to multiple anomalies believed to be pathologically related, stemming from a single etiological factor such as a viral infection or chromosomal abnormality.
- Agenesis refers to the complete absence of an organ, while aplasia describes a lack of growth in the existing primordium.
- Atresia is characterized by the absence of an opening, commonly in hollow organs
- Hypoplasia involves incomplete development and reduction in organ size, the opposite of hyperplasia (increased size)
- Trophies are differences in cell size (either hypertrophy or hypotrophy)
- Dysplasia describes abnormal organization of cells (distinct from neoplasia)
- The primary causes of congenital anomalies include genetic factors, environmental influences, and multifactorial interactions (of genes and environment).
Fetal Hydrops
- Fetal hydrops is the accumulation of fluid within a fetus during intrauterine development, potentially due to Rh blood group incompatibility, hemolytic anemia, cardiovascular defects, chromosomal abnormalities, or fetal anemia.
- Immune hydrops is a condition stemming from blood group antigen incompatibility (primarily Rh factor) between the mother and fetus. The mother develops an immune response in subsequent pregnancies.
- In Rh incompatibility, free antibodies traverse the placenta and affect the fetus's red blood cells.
- Non-immune hydrops has several causes, including cardiovascular defects or chromosomal abnormalities, and is contrasted with immune hydrops.
- Fetal anemia resulting from several factors, can also cause hydrops.
Perinatal Infections
- Fetal and perinatal infections are acquired via transcervical (ascending) or transplacental (hematogenous) routes.
- Transcervical infections often occur due to bacterial or viral infections reaching the fetus either through inhalation of infected amniotic fluid or the birth canal.
- Transplacental infections involve infections carried through the placenta. Microorganisms from the mother frequently infect the fetus.
Neonatal Respiratory Distress Syndrome (RDS)
- RDS, also known as hyaline membrane disease, is characterized by hyaline membrane deposition in the lungs.
- RDS is more common in premature infants and results from surfactant deficiency.
- Surfactant, primarily dipalmitoyl phosphatidylcholine (lecithin), reduces surface tension in the alveoli, making lung expansion easier.
- RDS pathogenesis involves surfactant immaturity and deficiency, leading to alveolar collapse, impaired gas exchange, hypoxemia, and CO2 retention.
- Cortisol, insulin, prolactin, thyroxine and TGF-β regulate surfactant synthesis.
Necrotizing Enterocolitis (NEC)
- NEC is a common disease, primarily occurring in premature infants.
- NEC is characterized by necrotizing lesions of the gastrointestinal tract.
- Enteral feeding is a substantial risk factor for NEC
- The pathogenesis of NEC is multifaceted yet frequently related to the introduction of bacteria to stimulate inflammation of the intestinal tract.
Sudden Infant Death Syndrome (SIDS)
- Sudden infant death syndrome (SIDS) is the unexpected death of an infant under a year old following a thorough investigation.
- Many deaths in infants have treatable causes (like infections)
- SIDS is a diagnosis of exclusion.
Tumors and Tumorlike Lesions of Infancy and Childhood
- Tumors are relatively rare in infancy & childhood, comprising only 2%.
- Benign tumors and tumor-like lesions such as hemangiomas, fibrous lesions, and teratomas are more common than malignant tumors.
- Teratomas are often found in various body sites but sacrococcygeal teratomas are most common, frequently presenting in the first 6 months
- Hemangiomas are the most common tumors in infancy. They frequently regress spontaneously.
- Neuroblastomas occur in the sympathetic ganglia and adrenal medulla, typically occurring around 18 months. Age, stage, histology, MYCN status and DNA ploidy play a crucial role in prognosis.
- Wilms tumor is the most common primary renal tumor in children. It commonly presents between ages 2 and 5.
Inborn Errors of Metabolism
- Inborn errors of metabolism are genetic disorders that affect metabolic processes, often resulting from abnormal accumulation of metabolites or deficiency of necessary products.
- PKU, galactosemia, and cystic fibrosis are some examples of common inborn errors of metabolism.
- Early diagnosis and intervention are crucial for preventing complications in many inborn errors.
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Description
Test your knowledge on congenital anomalies and the impact of maternal factors on fetal development. This quiz covers topics such as hyperglycemia, environmental influences, and specific congenital malformations. Dive into the intricacies of multifactorial inheritance and inborn errors of metabolism that affect infants.
