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Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes
Author(s) -
Giri Neelam,
Reed Helen D.,
Stratton Pamela,
Savage Sharon A.,
Alter Blanche P.
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26757
Subject(s) - medicine , offspring , pregnancy , population , obstetrics , diamond–blackfan anemia , miscarriage , fetal distress , fetus , abortion , pediatrics , genetics , biology , ribosome , rna , biochemistry , chemistry , environmental health , gene
Background Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered “high risk”. Methods We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond–Blackfan anemia (DBA), and Shwachman–Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery. We compared outcomes of pregnancies with affected and unaffected offspring within each group of mothers and with the general population. Results The rates of miscarriage (12–20%), elective abortion (5–10%), and live birth (68–78%) among mothers of all IBMFS groups were similar and comparable with general population rates but recurrent miscarriages (≥2) were significantly more common in mothers of offspring with DBA and SDS. Offspring with FA were more frequently born small for gestational age (SGA) than unaffected babies (39% vs. 4%) and had fetal malformations (46%) with 18% having three or more, often necessitating early delivery and surgery; offspring with DC had higher rates of SGA (39% vs. 8%) and fetal distress (26% vs. 3%); and offspring with DBA had fetal hypoxia (19% vs. 1%) leading to preterm and emergency cesarean deliveries (26% vs. 6%). Offspring with early‐onset severe phenotypes had the most prenatal and peripartum adverse events. Conclusion We identified the high‐risk nature of pregnancies in mothers with IBMFS‐affected fetuses, suggesting the need for prepregnancy counseling and monitoring of subsequent pregnancies by high‐risk fetal–maternal specialists.

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