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Related Experiment Videos

[Obstetrical management in dysfibrinogenemia].

H Heidegger1, M Spannagel, W Schramm

  • 1Frauenklinik im Klinikum Bamberg.

Geburtshilfe Und Frauenheilkunde
|May 1, 1990
PubMed
Summary

Dysfibrinogenaemia, a genetic disorder affecting fibrinogen quality, presents unique challenges in pregnancy. Careful clinical and biochemical evaluation of newborns is crucial due to its dominant inheritance pattern.

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Area of Science:

  • Hematology
  • Genetics
  • Obstetrics

Context:

  • Dysfibrinogenaemia is an inherited coagulation disorder.
  • Characterized by normal fibrinogen concentration but abnormal fibrinogen function.
  • Abnormalities stem from impaired fibrinopeptide release or fibrinomonomer aggregation.

Purpose:

  • To demonstrate typical laboratory findings in dysfibrinogenaemia.
  • To highlight the importance of clinical exploration in managing affected pregnancies.
  • To emphasize the need for neonatal examination due to Mendelian dominant inheritance.

Summary:

  • Presents case reports of 4 patients with 5 pregnancies, including one ectopic pregnancy, illustrating dysfibrinogenaemia.
  • Details laboratory abnormalities associated with this inherited fibrinogen quality defect.
  • Underscores the significance of thorough clinical assessment in cases of dysfibrinogenaemia.

Impact:

  • Informs clinical practice regarding the management of dysfibrinogenaemia during pregnancy.
  • Provides insights into the laboratory diagnosis of inherited fibrinogen disorders.
  • Stresses the importance of genetic counseling and neonatal screening for Mendelian dominant disorders.

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