Including Prenatal Diagnoses in Birth Defects Monitoring: Experience of the Metropolitan Atlanta Congenital Defects Program
Including Prenatal Diagnoses in Birth Defects Monitoring: Experience of the Metropolitan Atlanta Congenital Defects Program
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DOI：
10.1002/bdra.20508
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发表时间：
2009-01-01
影响因子：
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通讯作者：
Gilboa, Suzanne M.
中科院分区：
文献类型：
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作者：
Cragan, Janet D.;Gilboa, Suzanne M.
背景：产前诊断的进步导致了受出生缺陷影响的妊娠管理的变化。这些变化给使用医院来源的出生缺陷监测项目带来了独特的挑战。方法：1994 年，亚特兰大大都会先天缺陷计划 (MACDP) 的收集者开始访问地区围产期专家办公室，以确定产前诊断出胎儿缺陷的妊娠。然后将这些怀孕与现有的 MACDP 病例和医院分娩情况联系起来。那些没有住院分娩的人被列为结局未知的人。根据产前描述的确定性，产前诊断的缺陷被分为明确的或可能的缺陷。 1995-2004 年，我们通过将确定的产前缺陷和确定加上可能的产前缺陷添加到医院病例中，计算了最小和最大调整缺陷患病率。结果：我们确定了 1009 名孕妇存在未从 MACDP 医院来源确定的产前诊断缺陷。包括这些在内，总缺陷患病率从每 1000 名活产儿 28 例增加到最低 29.94 例（增加 6.9%），最高为每 1000 例 30.14 例（增加 7.7%）。连体双胞胎、三倍体、颅骨裂、囊性水瘤、克兰费尔特综合征、无脑畸形、特纳综合征和三体性的最低增加超过 50% 13岁、18岁和21岁的母亲>= 35。结论：这些数据反映了产前可检测到的各种先天性异常以及将产前诊断纳入出生缺陷监测数据的重要性。出生缺陷监测计划应单独评估产前诊断对其数据的准确性和完整性的影响程度。出生缺陷研究（A 部分）85:20-29, 2009。(C) 2008 Wiley-Liss, Inc.
BACKGROUND: Advances in prenatal diagnosis have led to changes in the management of pregnancies affected with birth defects. These changes pose unique challenges for birth defects monitoring programs which use hospital-based sources. METHODS: In 1994, Metropolitan Atlanta Congenital Defects Program (MACDP) abstractors began to visit area perinatologists' offices to identify pregnancies diagnosed prenatally with fetal defects. These pregnancies were then linked with existing MACDP cases and the hospital deliveries abstracted. Those without a hospital delivery were included as having unknown outcomes. Prenatally diagnosed defects were classified as definite or possible based on the certainty of the prenatal description. For 1995-2004, we calculated minimum and maximum adjusted defect prevalences by adding definite prenatal defects, and definite plus possible prenatal defects, to the hospital-based cases. RESULTS: We identified 1009 pregnancies with a prenatally diagnosed defect not ascertained from MACDP hospital sources. Including these increased the total defect prevalence from 28 per 1000 live births to a minimum of 29.94 (6.9% increase) and maximum of 30.14 (7.7% increase) per 1000. The minimum increase was greater than 50% for conjoined twins, triploidy, craniorachischisis, cystic hygroma, Klinefelter syndrome, anencephaly, Turner syndrome, and trisomies 13, 18 and 21 among mothers >= 35. CONCLUSIONS: These data reflect the variety of congenital abnormalities that can be detected prenatally and the importance of including prenatal diagnoses in birth defects monitoring data. Birth defects monitoring programs should assess individually the extent to which prenatal diagnosis can affect the accuracy and completeness of their data. Birth Defects Research (Part A) 85:20-29, 2009. (C) 2008 Wiley-Liss, Inc.