Cragan Janet D, Gilboa Suzanne M
Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.
Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):20-9. doi: 10.1002/bdra.20508.
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.
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.
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 >or=35.
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), 2009. Published 2008 Wiley-Liss, Inc.
产前诊断的进展已导致对患有出生缺陷的妊娠管理发生变化。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挑战。
1994年，大亚特兰大先天性缺陷项目（MACDP）的摘要员开始走访当地围产医学专家办公室，以识别产前诊断为胎儿缺陷的妊娠。然后将这些妊娠与现有的MACDP病例以及抽取的医院分娩记录相联系。那些没有医院分娩记录的妊娠被列为结局未知。根据产前描述的确定性，将产前诊断的缺陷分为确定或可能两类。对于1995 - 2004年，我们通过将确定的产前缺陷以及确定加可能的产前缺陷添加到基于医院的病例中，计算了最低和最高调整后的缺陷患病率。
我们识别出1009例产前诊断为缺陷但未从MACDP医院来源确定的妊娠。将这些病例纳入后，每1000例活产的总缺陷患病率从28例增加到最低29.94例（增加6.9%）和最高30.14例（增加7.7%）。对于联体双胎、三倍体、颅脑脊柱裂、囊性水瘤、克兰费尔特综合征、无脑儿、特纳综合征以及母亲年龄≥35岁的13、18和21三体综合征，最低增加幅度大于50%。
这些数据反映了产前可检测到的各种先天性异常以及在出生缺陷监测数据中纳入产前诊断的重要性。出生缺陷监测项目应单独评估产前诊断对其数据准确性和完整性的影响程度。《出生缺陷研究（A部分）》，2009年。2008年由Wiley - Liss公司出版。
