Table III:
Pregnancy Complications, Obstetric and Gynecologic History of Women with DC/TBDs
| UPN | Gravida | Fetal outcomes | Maternal complications during pregnancy | Other obstetric and gynecologic conditions | Affected gene (inheritance) | Pathogenic variant | |||
|---|---|---|---|---|---|---|---|---|---|
| Fetal losses ≤ 20 wks | Live birth > 20 wks | Hematologic | Obstetric includes c-section and forceps | ||||||
| Baseline | During pregnancy | ||||||||
| 6–1 | 3 | 1 miscarriage | 2 term | normal | platelets↓↓↓, Tx | placenta previa + abruption x 2; C-sections | 1 baby through surrogate mother, VIN 1 excised age 51 | TERC (AD) | n.97_98delCT |
| 6–3 | 2 | none | 2 normal term | normal | normal | none | hysterectomy age 37 for CIN 3 | TERC (AD) | n.97_98delCT |
| 26–3 | 1 | none | preterm twins-33 weeks | SAA | ↓↓↓ SAA, Tx | preeclampsia; C-section | none | TERT (AD) | |
| 74–1 | 2 | none | 2 normal term | normal post-BMT | normal | none | IVF; 1 for donor egg; 1 for PGD | TINF2 (AD) | c.838A>G |
| 114–1 | 3 | 1 miscarriage; 1 ectopic | 1 preterm at 32 weeks | ↓ platelet | ↓↓↓ Hb & platelets, severe bleeding, Tx | precipitous preterm labor | Scarred fallopian tubes; difficulty getting pregnant; D and C for heavy bleeding | TERC (AD) | n.100T>A |
| 114–3 | 2 | 1 miscarriage | 1 term | ↓ platelet | ↓↓↓ SAA, severe bleeding; Tx | C-section for SAA | none | TERC (AD) | n.100T>A |
| 164–3* | 2 | none | 1 fetal distress; 1 IUGR, both at term | normal | normal | C section x 2 for fetal indications | none | RTEL1 (AD) | c.2956C>T |
| 164–4* | 4 | none | 4 term | normal | normal | none | none | RTEL1 (AD) | c.2956C>T |
| 196–2 | 2 | none | 1 term died day 1, 1 term | macrocytosis | macrocytosis | preeclampsia with 2nd pregnancy | none | TINF2 (AD) | c.873G>C, |
| 201–1 | 1 | none | 1 normal term | ↓ platelet | ↓ platelet | none | none | unknown | |
| 220–2* | 6 | 2 miscarriages | 3 term; 1 preterm-36 weeks | normal | normal | C-section x 4: all failure to progress | hysterectomy age 30 for endometriosis; ovarian vein thrombosis, age 31; poor wound healing after surgery | TERT (AD) | c.2110C>T |
| 226–8 | 4 | 2 mid-trimester losses | 1 preterm-27 weeks; 1 term | normal | normal | C-section: preeclampsia, IUGR; gestational diabetes | Infertility; took fertility drugs for pregnancy | MDM4 (AD) | c.1361C>T |
| 238–2 | 6 | 3 miscarriages; 1 abortion | 2 term | normal | normal | heavy bleeding 5 weeks after abortion | hysterectomy age 28 for endometriosis | RTEL1 (AD) | c.1861G>A |
| 327–3 | 2 | none | 1 term; 1 twins term | ↓ counts | ↓↓ Hb & platelets | none | none | TERC (AD) | n.334_339dupGGGGCG |
| 327–2* | 2 | none | 1 term; 1 preterm-36 weeks | normal | normal | C-section x 2: 1 failure to progress; 1 preeclampsia | hysterectomy age 33 for pelvic varicosities | TERC (AD) | n.334_339dupGGGGCG |
| 350–1 | 2 | none | 2 term | macrocytosis | macrocytosis | 1 forceps | hysterectomy age 51 for prolapsed uterus | TERC (AD) | n.114_115delTT |
| 353–1 | 3 | 2 miscarriages | 1 fetal distress term | normal | normal | C-section for fetal distress | endometriosis; infertility; many IVF attempts; LEEP for CIN II, age 32 | TERT (AD) | |
| 350–3 | 1 | none | 1 preterm 33 weeks | ↓ platelet | HELLP, ↓↓↓ Hb & platelets, Tx | c-section for severe preeclampsia | IVF for PGD | TERC (AD) | n.114_115delTT |
| 556–1* | 2 | none | 2 term | normal | ↓ platelet | gestational diabetes | none | TERT (AD) | c.1156_1171del, |
| 543–2* | 2 | none | 2 term | normal | Low counts after post-partum hemorrhage | 1 post-partum hemorrhage; 1 elective C-section | none | TERT (AD) | c.2591T>C |
| 520–1 | 2 | none | 2 term | normal | normal | 2 forceps | none | TERC (AD) | n.234C>G |
| 545–2 | 2 | none | 2 preterm, 1– 28 weeks, 1– 36 weeks | ↓ counts | ↓↓ Hb & platelets | c-section at 28 weeks for preeclampsia; c-section at 36 weeks | took fertility hormones to conceive | TERT (AD) | c.3205G>A |
| 522–2 | 5 | 3 miscarriages | 2 term | none | none | 1 vanishing twin | PCOS, scarred fallopian tubes, took fertility drugs for pregnancy; hysterectomy age 54 for prolapse | TERT (AD) | c.2768C>T |
| 449–2* | 13 | 10 miscarriages; 2 mid-trimester losses | 1 term | none | none | recurrent pregnancy losses | hysterectomy age 30 for endometriosis | TERT (AD) | c.2947C>T |
| 518–2* | 4 | none | 4 term | none | none | none | none | RTEL1 (AD) | |
Abbreviations: CIN = cervical intraepithelial neoplasia; C-section = cesarean section; D and C = dilation and curettage; HELLP = hemolysis elevated liver function tests low platelets (severe preeclampsia) IVF = in vitro fertilization; IUGR = intrauterine growth restriction; LEEP = loop electrocautery excision procedure; PGD = preimplantation genetic diagnosis; PCOS = polycystic ovarian syndrome; Tx = transfusions.
↓
= mild cytopenia
↓↓
= moderate cytopenia
↓↓↓
= severe cytopenia needing transfusions. UPN = unique patient number. VIN = vulvar intraepithelial neoplasia
*
Silent carriers: No DC-associated features, identified by mutation testing after the diagnosis of an affected offspring.