Embryonic Development Issues

Overview of Congenital Anomalies in Embryonic Development

  • Key Conditions: Anencephaly, Spina Bifida, Cleft Lip and Palate, Tetralogy of Fallot, Renal Agenesis, Omphalocele, Gastroschisis, Hydrops Fetalis.

Anencephaly

  • Etiology: Congenital neural tube defect; incomplete brain/skull development.

  • Genetic and Environmental Factors: Chromosomal abnormalities, teratogens, folic acid deficiency.

  • Pathogenesis: Failure of anterior neuropore closure leads to developmental failures of cerebral tissue.

  • Clinical Significance: Poor prognosis; prevention includes folic acid supplementation.

Spina Bifida

  • Etiology: Congenital neural tube defect; incomplete spinal column closure.

  • Genetic and Environmental Factors: Similar to anencephaly.

  • Pathogenesis: Failure of posterior neuropore closure leads to spinal exposure and damage.

  • Clinical Importance: Varies based on defect severity; prevention via folic acid supplementation.

Cleft Lip and Palate

  • Etiology: Failure of facial structure fusion during embryonic weeks 4-12.

  • Genetic and Environmental Factors: Family history, teratogens (e.g., medications, alcohol).

  • Pathogenesis: Disruptions in maxillary and nasal processes lead to gaps in lip/palate.

  • Clinical Impact: Feeding difficulties, speech challenges; surgical interventions usually in infancy.

Tetralogy of Fallot

  • Etiology: Genetic mutations (e.g., NKX2-5, GATA4) and environmental risks.

  • Pathogenesis: Comprises four defects (pulmonary stenosis, VSD, overriding aorta, RVH) affecting circulation.

  • Clinical Significance: Cyanotic condition with potential for complications like heart failure.

Renal Agenesis (Potter Syndrome)

  • Etiology: Genetic mutations, chromosomal anomalies, environmental influences.

  • Pathogenesis: Normal kidney development disrupted; leads to oligohydramnios and resultant deformities.

  • Clinical Impact: Bilateral agenesis incompatible with life; unilateral affects future kidney function.

Omphalocele

  • Etiology: Genetic factors, infections during pregnancy.

  • Pathogenesis: Failure of intestines to return to the abdominal cavity leads to a membrane-covered sac of organs.

  • Clinical Significance: Risk of infection; surgical intervention needed after birth.

Gastroschisis

  • Etiology: Thought to be multifactorial; involves vascular disruptions.

  • Pathogenesis: Ischemia leads to a defect in abdominal wall, with intestines exposed.

  • Clinical Implications: Requires urgent surgical intervention; risk of bowel dysfunction.

Hydrops Fetalis

  • Etiology: Primarily due to Rh incompatibility leading to hemolysis.

  • Pathogenesis: Results in increased fluid accumulation and fetal anemia.

  • Clinical Findings: Generalized edema, detected via ultrasound; treatment may include RhIg administration and possible early delivery.