Table 1.

Pregnancy outcomes in inherited bone marrow failure syndromes

Patient	Diagnosis	Findings supportive of hematologic diagnosis	Maternal age, y	Outcome	Notes
1	TBD/DKC	Telomere lengths well below first percentile in lymphocytes and granulocytes	29	IUFD at 20 WG	Treated with epoetin alfa starting at 11 WG
					IUFD at 20 WG with fetal size consistent with GA of 17 wk
			32	SAB at 15 WG	Bilateral fallopian tube recanalization/AMH: 1.4 ng/mL at 31 y of age
					Pregnancy through IVF
					SAB of 13-wk-sized fetus at 15 WG; growth lag noted at 12 WG
		TERC r.287C>G heterozygote	33	CS at 37 WG due to fetal intolerance of labor	IUGR first percentile by 31 wk GA
					Transient, severe hypertension related to blood transfusion at 36 WG resulting in hospitalization for monitoring with induction of labor at 37 WG
					Low-birth-weight, female infant at 1970 g (less than first percentile)
					Insufficient milk to breastfeed
2	TBD/DKC	Telomere lengths well below first percentile in lymphocytes and granulocytes	17	Elective abortion	At 23 y of age, found to have blocked fallopian tubes
		Early pulmonary fibrosis			In her 30s, underwent IVF retrieval for fertility preservation prior to hematopoietic stem cell transplant; this was complicated by ascites related to liver cirrhosis; AMH: 0.5 ng/mL
		Liver cirrhosis
		Coats disease
3	SDS	Diagnosed in infancy with failure to thrive, exocrine pancreatic dysfunction, and malabsorption requiring prolonged G-tube placement	21 or 22	SAB at 6 WG	NA
		Short adult height	23	CS at 39 WG due to fetal intolerance of labor	3080 g, male infant (29th percentile)
					Chorioamnionitis and funisitis
					Unable to breastfeed due to poor milk production
			28	SAB at 6 WG	NA
			28	Repeat CS at 37 WG	Fetus with hypoplastic left heart and growth restriction
					Mother treated for a breast infection and otitis externa after delivery
4	DBA	Blood transfusions as an infant (without anemia as an adult)	19	SVD at 39 WG	2582 g, female infant (sixth percentile)
5	DBA	Blood transfusions as a child	19	SAB at 8 WG	NA
			35	SAB at 9 WG	NA
		Family history of DBA	36	SAB at 11 WG	NA
			36	Pregnant at study end	NA
6	DBA	Managed with intermittent steroids and blood transfusions over years	17	Early SAB	Spontaneous remission of DBA followed by relapse
			21	SAB at 12 WG	Increased risk of Down syndrome on first trimester screen
					Normal fetal microarray with 2 regions of homozygosity >5 Mb noted
7	DBA	Managed with intermittent steroids and blood transfusions over years	22	Elective abortion	Evaluated at 35 y of age for infertility; unable to conceive after this point
8	SCN	Neutropenia as an infant	28	CS at 41 WG for failure to progress in labor	Treated with G-CSF throughout pregnancy
		Suffered recurrent infections until G-CSF available			3490 g, male infant (61st percentile)
		Son with SCN			Mastitis requiring 2 admissions and leading to weaning within 3 months of delivery
					Poor wound healing at CS site

CS, cesarean section; DBA, Diamond-Blackfan anemia; GA, gestational age; G-tube, gastrostomy tube; IUFD, intrauterine fetal death; IUGR, intrauterine growth restriction; SAB, spontaneous abortion; SCN, severe congenital neutropenia; SDS, Shwachman-Diamond syndrome; SVD, spontaneous vaginal delivery; WG, weeks of gestation.