Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.
Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.
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DOI：
10.1002/bdr2.2000
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发表时间：
2022-05
影响因子：
2.1
通讯作者：
Browne, Marilyn L.
中科院分区：
文献类型：
--
作者：
Papadopoulos, Eleni A.;Fisher, Sarah C.;Howley, Meredith M.;Browne, Marilyn L.
关键词：
遗传性溶血性贫血（HHA）是由基因突变引起的红细胞异常。关于HHA和出生缺陷之间的关系的研究很少。使用国家出生缺陷预防研究（NBDPS）的数据，我们描述了HHA暴露妇女的特征，并估计了妊娠期间HHA与特定出生缺陷之间的关联。NBDPS是一项基于人群的重大出生缺陷病例对照研究，包括1997年10月至2011年12月估计分娩日期的妊娠。从10个地点的出院名单或出生缺陷登记处确定参与者。经过培训的访谈员通过电话问卷收集有关妊娠暴露的信息。我们描述了暴露于HHA的妇女的特征，并计算了≥3例暴露病例的缺陷的粗比值比和精确的95%置信区间。在31名暴露于HHA的妇女（28例/3名对照）中，13名（42%）报告了镰状细胞贫血，17名（55%）报告了地中海贫血，1名（3%）报告了遗传性球形红细胞增多症。接触HHA的病例妇女的平均分娩年龄为27.3岁（范围：17-38岁）。大多数（82%）暴露于HHA的病例妇女报告了妊娠期间的其他疾病，包括高血压、泌尿生殖系统感染和呼吸道疾病。此外，93%的病例妇女报告在怀孕期间使用药物。28例中有18例（64%）为孤立性出生缺陷。≥3例暴露病例的缺陷为无脑儿、房间隔缺损、腹裂和腭裂。除无脑儿外，所有估计值的95%置信区间均接近或包含空值。这项产生假设的研究增加了关于HHA和出生缺陷之间关系的稀疏文献。
Hereditary hemolytic anemia (HHA) results from genetic mutations that cause red blood cell abnormalities. Little research exists on the relationship between HHA and birth defects. Using data from the National Birth Defects Prevention Study (NBDPS), we described characteristics of HHA-exposed women and estimated associations between HHA during pregnancy and specific birth defects. The NBDPS was a population-based, case–control study of major birth defects and included pregnancies with estimated delivery dates from October 1997 through December 2011. Participants were ascertained from hospital discharge lists or birth defect registries at 10 sites. Trained interviewers collected information about pregnancy exposures via telephone questionnaire. We described characteristics among HHA-exposed women and calculated crude odds ratios and exact 95% confidence intervals for defects with ≥3 exposed cases. Among 31 HHA-exposed women (28 cases/3 controls), 13 (42%) reported sickle cell anemia, 17 (55%) reported thalassemia, and one (3%) reported hereditary spherocytosis. The average age at delivery for HHA-exposed case women was 27.3 years (range: 17–38). The majority (82%) of HHA-exposed case women reported additional conditions during pregnancy, including hypertension, genitourinary infections, and respiratory illnesses. Additionally, 93% of case women reported using medication during pregnancy. Among the 28 cases, 18 (64%) had isolated birth defects. The defects with ≥3 exposed cases were anencephaly, atrial septal defect, gastroschisis, and cleft palate. Except for anencephaly, the 95% confidence intervals for all estimates were close to or included the null. This hypothesis-generating study adds to the sparse literature on the association between HHA and birth defects.
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影响因子：
15.1
作者：
Bornstein E;Eliner Y;Chervenak FA;Grünebaum A
通讯作者：
Grünebaum A
影响因子：
1.9
作者：
Elenga N;Adeline A;Balcaen J;Vaz T;Calvez M;Terraz A;Accrombessi L;Carles G
通讯作者：
Carles G
影响因子：
2.1
作者：
Howley MM;Feldkamp ML;Papadopoulos EA;Fisher SC;Arnold KE;Browne ML;National Birth Defects Prevention Study
通讯作者：
National Birth Defects Prevention Study
影响因子：
5.2
作者：
Bolton-Maggs, PHB
通讯作者：
Bolton-Maggs, PHB
影响因子：
2.1
作者：
Fisher, Sarah C.;Van Zutphen, Alissa R.;Browne, Marilyn L.
通讯作者：
Browne, Marilyn L.