Rare Diseases Symptoms Automatic Extraction

[Endocopic fetal surgery].

[congenital diaphragmatic hernia]

At present, the fetus is already considered a "patient" and as such, can develop diseases with fatal outcome in which the only therapeutic option can be fetal surgery. Currently, fetal surgery is limited almost exclusively to endoscopic surgery. Different techniques have gained clinical acceptance for improving the prognosis of various lethal fetal pathologies. Laser therapy for twin to twin transfusion syndrome and cord occlusion in monochorionic twins with selective intrauterine growth restriction are the procedures of choice for the management of monochorionic twins complications, and are associated with survival rates of up to 80-90% for at least one fetus. In fetuses with isolated congenital diaphragmatic hernia and severe pulmonary hypoplasia, fetal endoscopic tracheal occlusion has shown to improve the survival probabilities from 5% to 55% and from 1% to 33% in left and right congenital diaphragmatic hernia, respectively, and a decrease in the rate of pulmonary hypertension and neonatal morbidity. In selected cases with low urinary tract obstruction (megacystis) and without renal failure; fetal cystoscopy is a diagnostic method that excludes the possibility of urethral stenosis or atresia and may be used to ablate posterior urethral valves by laser, restoring urethral patency and potentially preserving respiratory and bladder function. In fetuses with pulmonary masses, either primary or due to airway obstruction, there is high risk of fetal death due to cardiac compression and contralateral pulmonary hypoplasia. In such cases fetal bronchoscopy can provide a successful therapeutic option to release airway obstruction.

Diseases presenting "high risk" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenal incidentaloma
  • alpha-thalassemia
  • aniridia
  • canavan disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • werner syndrome

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