Rare Diseases Symptoms Automatic Extraction

Prenatal control of Hb Bart's hydrops fetalis: a two-year experience at a mainland Chinese hospital.

[alpha-thalassemia]

Abstract α-Thalassemia is a common inherited disease in southern China. The severest form is Hb Bart's hydrops fetalis, in which the affected fetuses almost always die in utero or shortly after birth, and the mothers are at high risk for severe morbidity. Therefore, this condition should be controlled, especially prenatally. In this study, we reported on a two-year experience in prenatal control of Hb Bart's hydrops fetalis at a mainland Chinese hospital. Totally, 573 pregnancies at risk for Hb Bart's hydrops fetalis were referred and different prenatal procedures were offered depending on the gestational age at presentation. One hundred fifty-two affected fetuses were diagnosed prenatally; among these, only half presented in early gestation, and were terminated in time. Although our prenatal program has successfully prevented the birth of children with severe thalassemia, it does not show a satisfactory outcome, considering the gestational age when an affected pregnancy is terminated.

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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