Women with IBMFSs
| . | FA . | DC . | DBA . | SDS . | Total . |
|---|---|---|---|---|---|
| N attained menarche | 36 | 29 | 20 | 10 | 95 |
| N ever sexually active | 25 | 23 | 16 | 3 | 67 |
| No HCT | 21 | 21 | 15 | 3 | 60 |
| N HCT | 4 | 2 | 1 | 0 | 7 |
| N unable or uninterested in pregnancy | 9 | 6 | 7 | 2 | 24 |
| Infertility* | 9 | 3 | 3 | 0 | 15 |
| Decreased AMH | 8 | 2 | 2 | 0 | 12 |
| IVF† | 1 | 3† | 0 | 0 | 4 |
| N of women who had pregnancy | 7 | 17 | 9 | 1 | 34 |
| No HCT | 6 | 16 | 15 | 32 | |
| After HCT | 1 | 1 | 0 | 2 | |
| N of pregnancies | 13 | 46 | 41 | 2 | 102 |
| Range of pregnancies per woman | 1-5 | 1-6 | 1-10 | 2 | 1-10 |
| N of women with miscarriage | 2 | 7 | 3 | 1 | 13 |
| N of miscarriages‡ | 2 | 13 | 8 | 2 | 25 |
| N of women with elective abortions | 1 | 1 | 4 | 0 | 6 |
| N of elective abortions§ | 1 | 1 | 6 | 0 | 8 |
| N of live deliveries (live births)|| | 10 (11)|| | 32 (34)|| | 29 (29) | 0 | 71 (74) |
| N of term (37-42 wk) | 7 | 25 | 23 | — | 55 |
| N of preterm (27-36 wk) | 3 | 7 | 6 | — | 16 |
| N of C-sections¶ | 4 | 17 | 5 | 26 | |
| N with known gene# | 18/25 | 20/23 | 13/16 | 1/3 | 52/67 |
| . | FA . | DC . | DBA . | SDS . | Total . |
|---|---|---|---|---|---|
| N attained menarche | 36 | 29 | 20 | 10 | 95 |
| N ever sexually active | 25 | 23 | 16 | 3 | 67 |
| No HCT | 21 | 21 | 15 | 3 | 60 |
| N HCT | 4 | 2 | 1 | 0 | 7 |
| N unable or uninterested in pregnancy | 9 | 6 | 7 | 2 | 24 |
| Infertility* | 9 | 3 | 3 | 0 | 15 |
| Decreased AMH | 8 | 2 | 2 | 0 | 12 |
| IVF† | 1 | 3† | 0 | 0 | 4 |
| N of women who had pregnancy | 7 | 17 | 9 | 1 | 34 |
| No HCT | 6 | 16 | 15 | 32 | |
| After HCT | 1 | 1 | 0 | 2 | |
| N of pregnancies | 13 | 46 | 41 | 2 | 102 |
| Range of pregnancies per woman | 1-5 | 1-6 | 1-10 | 2 | 1-10 |
| N of women with miscarriage | 2 | 7 | 3 | 1 | 13 |
| N of miscarriages‡ | 2 | 13 | 8 | 2 | 25 |
| N of women with elective abortions | 1 | 1 | 4 | 0 | 6 |
| N of elective abortions§ | 1 | 1 | 6 | 0 | 8 |
| N of live deliveries (live births)|| | 10 (11)|| | 32 (34)|| | 29 (29) | 0 | 71 (74) |
| N of term (37-42 wk) | 7 | 25 | 23 | — | 55 |
| N of preterm (27-36 wk) | 3 | 7 | 6 | — | 16 |
| N of C-sections¶ | 4 | 17 | 5 | 26 | |
| N with known gene# | 18/25 | 20/23 | 13/16 | 1/3 | 52/67 |
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.