Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort

Neelam Giri, Pamela Stratton, Sharon A. Savage and Blanche P. Alter

Article Figures & Data


  • Table 1.

    Women with IBMFSs

    N attained menarche3629201095
    N ever sexually active252316367
    No HCT212115360
    N HCT42107
    N unable or uninterested in pregnancy967224
     Decreased AMH822012
    N of women who had pregnancy7179134
     No HCT6161532
     After HCT1102
    N of pregnancies1346412102
    Range of pregnancies per woman1-51-61-1021-10
    N of women with miscarriage273113
    N of miscarriages2138225
    N of women with elective abortions11406
    N of elective abortions§11608
    N of live deliveries (live births)||10 (11)||32 (34)||29 (29)071 (74)
    N of term (37-42 wk)7252355
    N of preterm (27-36 wk)37616
    N of C-sections417526
    N with known gene#18/2520/2313/161/352/67
    • AMH, anti-Müllerian hormone; C-section, cesarean section; DBA, Diamond-Blackfan anemia; DC, dyskeratosis congenita; FA, Fanconi anemia; HCT, hematopoietic cell transplantation; IVF, in vitro fertilization; SDS, Shwachman-Diamond syndrome.

    • * Infertility: All with FA had primary ovarian insufficiency (POI); 1 with FA used in vitro fertilization (IVF) with donor egg followed by embryo implantation. One DC woman underwent 10 cycles of IVF with 1 successful pregnancy. One with DC required ovarian stimulation with clomiphene for 3 pregnancies. One with severe aplastic anemia followed by myelodysplastic syndrome and then acute myeloid leukemia was unable to get pregnant while aplastic. Two with DBA had POI (1 after HCT, and 1 had ovarian agenesis); and 1 additional with DBA had scarred tubes.

    • DC: 2 IVF for infertility, 2 in 1 woman for donor egg and preimplantation genetic diagnosis, respectively, 1 DC woman provided her own egg for a surrogate mother because of the DC woman’s prior pregnancy complications; 1 woman with DC had scarred tubes but became pregnant after several attempts; 1 with DBA had scarred tubes and failed to become pregnant.

    • DC women: 4 had 2, and 1 had 3. DBA women: 2 had 2, and 1 had 4. SDS woman: 1 had 2.

    • § DBA women: 1 had 3 elective abortions.

    • || Live births exceed deliveries because of twins, 1 set in FA and 2 sets in DC.

    • One with DBA had C-section associated with uterine fibroids.

    • # Known genotypes: FA, FANCA 14, FANCC 4; DC, TERC 11, TERT 4, RTEL1 3, TINF2 2; DBA, RPS29 6, RPS19 3, RPS7 2, RPS26 1, RPL35 1; SBDS 1.

  • Table 2.

    Number of women with complications during viable pregnancies

    N with viable pregnancy6179032
    N with any complications695020
     Anemia without AA424010
     Thrombocytopenia without AA43007
     RBCs and/or platelets transfusion543012
     Placenta previa/abruption11002
     Failure to progress12003
     Gestational diabetes00101
     Fetal distress11103
     Stillbirth001 (Hydrops)01
    • AA, alastic anemia; RBC, red blood cell.