Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes - PubMed (original) (raw)

Clinical Trial

. 2018 Jan;65(1):10.1002/pbc.26757.

doi: 10.1002/pbc.26757. Epub 2017 Aug 12.

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Clinical Trial

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes

Neelam Giri et al. Pediatr Blood Cancer. 2018 Jan.

Abstract

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.

Keywords: fetal distress; inherited bone marrow failure syndromes; perinatal complications; preterm; small for gestation.

© 2017 Wiley Periodicals, Inc.

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Conflict of interest statement

CONFLICT OF INTEREST

The authors have no conflicts of interest to disclose.

Figures

Figure 1.

Figure 1.

Complications in pregnancies with affected offspring. *P<0.01 (A) Fanconi anemia: Children with ≥3 physical malformations consistent with VACTERL-H phenotype (Red bars) had significantly more perinatal complications (P=0.001), non-reassuring fetal status (fetal distress) (P=0.003) and cesarean delivery for complications (P=0.001) than in those with 0-2 malformations (Blue bars). SGA and preterm birth occurred with similar frequency in children with ≥3 or 0-2 malformations. B) Dyskeratosis congenita: Offspring with Hoyeraal-Hreidarsson syndrome or Revesz syndrome (Red bars) had significantly more complications (P<0.0001), fetal distress (P<0.0001), SGA (P<0.0001), preterm birth (P=0.004) and cesarean delivery for complications (P<0.0001) than those with other dyskeratosis congenita types (Blue bars). C) Diamond Blackfan anemia: Affected offspring with anemia at birth (Red bars) had significantly more complications (P<0.0001), fetal distress (P<0.0001), preterm birth (P=0.004) and cesarean delivery for complications (P=0.001) than those without anemia (Blue bars) while the frequency of SGA was similar.

References

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