Giri Neelam, Reed Helen D, Stratton Pamela, Savage Sharon A, Alter Blanche P
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.
Department of Medicine - Pediatrics, Baylor College of Medicine, Houston, Texas.
Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26757. Epub 2017 Aug 12.
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".
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.
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.
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.
患有遗传性骨髓衰竭综合征（IBMFSs）的儿童在子宫内可能出现症状，导致孕期出现母体和胎儿问题。其母亲随后的妊娠应被视为“高危”妊娠。
我们回顾性分析了165名后代患有范可尼贫血（FA）、先天性角化不良（DC）、钻石黑范贫血（DBA）和施-戴综合征（SDS）的未受影响母亲的575次妊娠结局，记录孕期、分娩期和产程中的相关事件。我们比较了每组母亲中胎儿受影响和未受影响的妊娠结局，并与一般人群进行了比较。
所有IBMFS组母亲的流产率（12 - 20%）、选择性流产率（5 - 10%）和活产率（68 - 78%）与一般人群相似，但DBA和SDS患儿母亲的复发性流产（≥2次）更为常见。FA患儿比未受影响的婴儿更易出现小于胎龄儿（SGA）（39%对4%），且有胎儿畸形（46%），其中18%有三种或更多畸形，常需提前分娩和手术；DC患儿的SGA发生率（39%对8%）和胎儿窘迫发生率（26%对3%）更高；DBA患儿有胎儿缺氧（19%对1%），导致早产和急诊剖宫产（26%对6%）。早发型严重表型的患儿产前和围产期不良事件最多。
我们确定了胎儿受IBMFS影响的母亲妊娠的高危性质，表明需要在孕前进行咨询，并由高危胎儿 - 母体专家对后续妊娠进行监测。
