Which tests are performed in the prenatal workup of factor XIII (FXIII) deficiency?

Updated: Apr 02, 2018
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Perumal Thiagarajan, MD  more...
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Answer

Prenatal diagnosis is as follows:

  • Use of several diagnostic procedures has been well established in the evaluation of patients with FVIII and factor IX (FIX) deficiencies. In one case report, a short tandem repeat marker that was closely linked to subunit A was used antenatally to identify the presence of a severe bleeding disorder in a subsequent pregnancy in a family in which an older sibling had severe FXIII deficiency. [99]

  • Chorionic villous sampling at approximately 10-12 weeks of gestation or amniocentesis at 16-20 weeks of gestation can be performed to obtain fetal cells for DNA analysis or for linkage studies. If DNA analysis cannot be performed, fetal blood obtained by fetoscopy at approximately 20 weeks of gestation can be used. In general, these procedures carry risks ranging from a low of approximately 0.5% maternal-fetal complications to a high of approximately 1-6% fetal death for fetoscopy.

  • Perform these procedures only after intense genetic and obstetric counseling of the parents.


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