Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000
Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000
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DOI：
10.1002/pd.908
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发表时间：
2004-08-01
影响因子：
3
通讯作者：
Kilby, MD
中科院分区：
文献类型：
--
作者：
Tonks, A;Wyldes, M;Kilby, MD
目的描述1995 - 2000年西米德兰兹郡先天性膈肌畸形的发病率、相关畸形、临床结局和产前诊断敏感性的趋势。方法信息来自英格兰健康地区以人口为基础的主要先天性畸形登记处，西米德兰兹郡先天性畸形登记处（WMCAR），结果1995 ~ 2000年396577例新生儿中确诊膈肌畸形161例。这表明每10000名新生儿中有4.1人发病。扣除自然流产和终止妊娠后，出生时的发病率为每一万名登记出生婴儿2.9人。在活产婴儿中，婴儿死亡率为每1 000名活产婴儿中有317名死亡。47%的病例有额外的结构或染色体异常;这些复杂病例的婴儿死亡率为533/1000，与孤立性病变相比，相对风险增加2.37。66%的病例在产前诊断，51%的孤立性病变和84%的复杂病例。14例产前诊断病例（12%）为假阳性;然而，其中11例有其他重大病理。这14例未包括在161例确诊病例中。结论先天性膈肌畸形仍然与相当大的婴儿死亡率。现在大多数病例在出生前就被诊断出来，预后受到其他结构或染色体异常的不利影响。这对那些参与为受影响胎儿的父母提供咨询的人提出了重大挑战。版权所有（C）2004约翰威利父子有限公司。
Objectives To describe trends in incidence, associated anomalies, clinical outcomes and sensitivity of prenatal diagnosis for congenital malformations of the diaphragm in the West Midlands Region between 1995 and 2000.Methods Information was retrieved from a population-based register of major congenital malformations in a health region of England, the West Midlands Congenital Anomaly Register (WMCAR), between 1995 and 2000.Results One hundred and sixty-one confirmed cases of congenital malformations of the diaphragm were notified from 396577 births. This gives an incidence of 4.1 per 10000 births. After natural losses and terminations, the incidence at birth was 2.9 per 10 000 registered births. For live-born cases, the infant mortality rate was 317 per 1000 births. 47% of the cases had additional structural or chromosomal anomalies; the infant mortality rate for these complex cases was 533 per 1000, an increased relative risk of 2.37 compared with isolated lesions. 66% of the cases were diagnosed prenatally, 51% of isolated lesions and 84% of complex cases. Fourteen prenatally diagnosed cases (12%) were false-positives; however, 11 of these cases had other significant pathology. These 14 cases were not included in the 161 confirmed cases.Conclusion Congenital malformations of the diaphragm remain associated with considerable infant mortality. Most cases are now diagnosed before birth and the prognosis is adversely affected by the presence of other structural or chromosomal anomalies. This presents significant challenges for those involved in counselling the parents of affected fetuses. Copyright (C) 2004 John Wiley Sons, Ltd.