Pregnancy outcome in congenital dyserythropoietic anemia type I

Eur J Haematol. 2008 Oct;81(4):317-21. doi: 10.1111/j.1600-0609.2008.01109.x. Epub 2008 Jun 28.


Objectives: Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited disease characterized by moderate to severe macrocytic anemia and abnormal erythroid precursors with nuclear chromatin bridges and spongy heterochromatin. Moderate to severe maternal anemia is a recognized independent risk factor for low birth weight (LBW) and complicated delivery. The aim of the study was to review the outcome of pregnancies in women with CDA I.

Methods: The clinical and laboratory records of 28 spontaneous pregnancies in six Bedouin women with CDA I were reviewed. The results were compared with findings from a retrospective review of a large population-based registry including all pregnancies in Bedouin women during the same 15-yr period.

Results: Eighteen pregnancies in women with CDA I (64%) were complicated. One pregnancy was aborted spontaneously in the first trimester and one resulted in a non-viable fetus (stillborn at 26 wk). Cesarean section (CS) was performed in 10 pregnancies (36%). Eleven of the 26 newborns (42%) had a LBW: six were born prematurely and five were small for gestational age. The odds ratio for CS in women with CDA I compared with healthy Bedouin women was 4.5 [95% confidence interval (CI) 1.2-10.3], and for a LBW infant, 5.5 (95% CI 2.4-12.3). Careful follow-up was associated with significantly better fetal outcome (P = 0.05).

Conclusions: Pregnancies in women with CDA I are at high risk for delivery-related and outcome complications. To improve fetal outcome, women with CDA I should be carefully monitored during pregnancy.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Dyserythropoietic, Congenital*
  • Female
  • Humans
  • Monitoring, Physiologic
  • Pregnancy
  • Pregnancy Complications*
  • Pregnancy Outcome*
  • Retrospective Studies
  • Risk Factors