Public Health Genetics, Murdoch Childrens Research Institute, Melbourne, Australia.
Prenat Diagn. 2010 Feb;30(2):149-55. doi: 10.1002/pd.2431.
To determine the perinatal outcomes of the first 1057 cases seen at a fetal management unit (FMU).
Record linkage of FMU data with the Victorian Birth data and the Victorian Births Defects Register (BDR).
Ninety-nine percent of cases were followed up with 811 (77%) linked to the BDR and 202 (22%) linked to the birth data. Almost two-thirds of cases with birth defects (528) were live births surviving 28 days, 52 (6%) were neonatal deaths, 26 (3%) were stillbirths and 205 (25%) were terminations. The birth defects most prevalent were of the heart/circulatory system (31%). Cases that resulted in a termination were significantly more likely to have multiple birth defects [OR 2.43 (95% CI 1.70, 3.48)], a chromosomal birth defect [OR 3.30 (95% CI 1.96, 5.57)], a lethal birth defect [OR 1.32 (95% CI 1.25, 1.38)], or a syndrome [OR 4.81 (95% CI 2.54, 9.11)]. In this setting, 61% of cases of Down syndrome resulted in a live birth.
Over three-quarters of cases referred to the FMU were confirmed with a birth defect and notified to the BDR. Notably, two-thirds of the cases (with or without a birth defect) were live births surviving 28 days.
确定首例 1057 例胎儿管理单位（FMU）就诊患者的围产期结局。
FMU 数据与维多利亚州出生数据和维多利亚州出生缺陷登记处（BDR）进行记录链接。
99%的病例得到了随访，其中 811 例（77%）与 BDR 相关联，202 例（22%）与出生数据相关联。近三分之二（528 例）有出生缺陷的病例是存活 28 天的活产儿，52 例（6%）是新生儿死亡，26 例（3%）是死产，205 例（25%）是终止妊娠。最常见的出生缺陷是心脏/循环系统（31%）。导致终止妊娠的病例更有可能有多发性出生缺陷[比值比（OR）2.43（95%置信区间[CI]1.70，3.48)]，染色体出生缺陷[OR 3.30（95%CI 1.96，5.57)]，致死性出生缺陷[OR 1.32（95%CI 1.25，1.38)]或综合征[OR 4.81（95%CI 2.54，9.11)]。在此背景下，61%的唐氏综合征病例为活产。
超过四分之三的转诊到 FMU 的病例被确诊为出生缺陷，并通知了 BDR。值得注意的是，三分之二（有或没有出生缺陷）的病例是存活 28 天的活产儿。
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