Pregnancy outcome in congenital dyserythropoietic anemia type I.
OBJECTIVE
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.
Department of Hematology, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University of Negev, Beer Sheva, Israel.
Hanna
H
Shalev
Galit Perez
GP
Avraham
Reli
R
Hershkovitz
Amalia
A
Levy
Eyal
E
Sheiner
Itai
I
Levi
Hannah
H
Tamary
D000293:Adolescent; D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital; D005260:Female; D006801:Humans; D008991:Monitoring, Physiologic; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D012189:Retrospective Studies; D012307:Risk Factors