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21 三体综合征妊娠的产前发现和早期产后结局:一家三级中心的 10 年回顾性研究。

Antenatal findings and early postnatal outcomes in pregnancies with trisomy 21: a 10 year retrospective review at a tertiary centre.

机构信息

Fetal Medicine Unit, University College Hospital, Elizabeth Garrett Anderson Wing, London, UK.

Department of Obstetrics and Gynaecology, University College Hospital, Elizabeth Garrett Anderson Wing, London, UK.

出版信息

Prenat Diagn. 2022 Sep;42(10):1273-1280. doi: 10.1002/pd.6215. Epub 2022 Aug 17.

Abstract

OBJECTIVE

To examine the antenatal imaging features, intrapartum findings and early postpartum course of pregnancies with trisomy 21 (T21) at a tertiary hospital in the United Kingdom.

METHODS

Women with pregnancies diagnosed with T21 on antenatal or post-mortem/postnatal karyotyping, from February 2010-2020. Outcome measures included antenatal imaging findings, fetal growth restriction (FGR), birthweight, mode of delivery and early neonatal outcomes.

RESULTS

76 women were included. There were six intrauterine deaths and 70 livebirths. Thirty-eight (50%) had an antenatal diagnosis and twenty-five (33%) had a suspected diagnosis but declined further testing. The diagnosis was unanticipated in 13 (17%). Cardiac anomalies (35.5%) were the most common antenatal anomaly. Doppler abnormalities were apparent in 48/73 (68%). Eighteen (25.7%) had antenatal FGR. The majority were delivered by Caesarean section, and 21.4% of babies weighed <third percentile at delivery. Fifty-eight (82%) were admitted to the neonatal unit. Forty-three (61%) required respiratory support and fifty-five (78%) needed naso-gastric feeding or were nil by mouth. Mean PAPP-A values were significantly lower in cases with abnormal Dopplers, FGR, congenital anomalies and birthweight <10 percentile.

CONCLUSIONS

T21 fetuses have high rates of placental insufficiency, FGR and Doppler abnormalities. Postnatally, most require respiratory and feeding support. Antenatal counselling should reflect these risks.

摘要

目的

研究英国一家三级医院中唐氏综合征(T21)胎儿的产前影像学特征、分娩时发现的情况及产后早期的转归。

方法

选取 2010 年 2 月至 2020 年期间在我院接受产前或产后核型分析确诊为 T21 的孕妇。主要结局指标包括产前影像学表现、胎儿生长受限(FGR)、出生体重、分娩方式和新生儿早期结局。

结果

共纳入 76 例孕妇,其中 6 例胎儿宫内死亡,70 例活产。38 例(50%)有产前诊断,25 例(33%)有疑似诊断但拒绝进一步检查,13 例(17%)为意外诊断。心脏畸形(35.5%)是最常见的产前异常,多普勒异常在 48/73 例(68%)中表现明显。18 例(25.7%)有产前 FGR,大多数孕妇行剖宫产分娩,21.4%的新生儿出生体重低于第 3 百分位。58 例(82%)新生儿入住新生儿病房,43 例(61%)需要呼吸支持,55 例(78%)需要鼻胃管喂养或经口禁食。多普勒异常、FGR、先天性异常和出生体重<第 10 百分位的胎儿 PAPP-A 值明显较低。

结论

T21 胎儿胎盘功能不全、FGR 和多普勒异常的发生率较高,出生后大多数需要呼吸和喂养支持。产前咨询应反映这些风险。

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