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[超声诊断出生缺陷的患病率:大学母胎医学科三年经验]

[Prevalence in birth defects diagnosed by ultrasound: three years experience in university maternal fetal medicine unit].

作者信息

Molina-Giraldo Saulo, Alfonso-Ospina Luis, Parra-Meza Carolina, Lancheros-García Eder Ariel, Rojas-Arias José Luis, Acuña-Osorio Edgar

出版信息

Ginecol Obstet Mex. 2015 Nov;83(11):680-9.

Abstract

OBJECTIVE

To establish the prevalence of congenital malformations diagnosed in Maternal-Fetal Medicine Unit of Hospital de San José, Bogotá-Colombia and comparing them to national and international reports.

MATERIALS AND METHODS

Retrospective, descriptive observational where the quantification of all malformed fetuses diagnosed in Maternal-Fetal Medicine Unit from June 2010 to June 2013 was performed.

RESULTS

236 malformed fetuses, a total of 11,914 births, for a prevalence of 1.98% were included at a mean gestational age at diagnosis of 26.7 weeks (SD 7.1 weeks). The most common congenital malformations were at the level of Central Nervous System (CNS) 88 (37%) in total and within them, the most prevalent was ventriculomegaly 16 (7%). Of the 236 malformed fetuses, 165 fetuses (70.2%) had only one affected system 29 (12.3%) 2 compromised systems and 42 (17.5%) over 3 affected systems. Karyotyping was offered to all antenatal patients, however, accepted only 63 (26.7%), and 39 (62%) with normal results and the other aneuploidies were found, having Trisomy 21 as the most common. It was possible to establish a concordance of 86% between the antenatal and postnatal diagnosis. The perinatal mortality found in this study was 34.7%, mainly in fetuses with congenital diaphragmatic hernia 16 cases (88.8%), fetal non-immune hydrops 8 cases (80%), cardiovascular abnormalities 31 cases (46.2%) genitourinary and 13 cases (24%), and fetuses with CNS malformations such as sequence acranea-anencefalia, holoprosencephaly and encephalocele mortality occurred in 100%.

CONCLUSION

In this study the prevalence of congenital anomalies was found comparable to that reported at local and global levels, which were diagnosed and adequately characterized by more than two-thirds by obstetrical ultrasound performed by trained personnel in prenatal diagnosis. Perinatal morbidity and mortality remain high thoracic, cardiovascular, renal and non-immune hydrops congenital anomalies.

摘要

目的

确定在哥伦比亚波哥大圣何塞医院母胎医学科诊断出的先天性畸形的患病率,并与国内和国际报告进行比较。

材料与方法

回顾性描述性观察研究,对2010年6月至2013年6月在母胎医学科诊断出的所有畸形胎儿进行量化。

结果

纳入236例畸形胎儿,共11914例出生,患病率为1.98%,诊断时的平均孕周为26.7周(标准差7.1周)。最常见的先天性畸形发生在中枢神经系统(CNS),共计88例(37%),其中最常见的是脑室扩大,有16例(7%)。在236例畸形胎儿中,165例胎儿(70.2%)只有一个系统受累,29例(12.3%)有两个系统受累,42例(17.5%)有三个以上系统受累。对所有产前患者都进行了核型分析,但只有63例(26.7%)接受了检查,其中39例(62%)结果正常,发现了其他非整倍体情况,最常见的是21三体。产前诊断与产后诊断之间的一致性为86%。本研究中发现的围产期死亡率为34.7%,主要发生在患有先天性膈疝的胎儿中,有16例(88.8%),胎儿非免疫性水肿8例(80%),心血管异常31例(46.2%),泌尿生殖系统异常13例(24%),以及患有中枢神经系统畸形如无脑儿序列、全前脑和脑膨出的胎儿,死亡率为100%。

结论

在本研究中,先天性异常的患病率与当地和全球报告的患病率相当,这些异常通过产前诊断中经过培训的人员进行的产科超声检查,三分之二以上得到了诊断和充分表征。围产期发病率和死亡率在胸部、心血管、肾脏和非免疫性水肿先天性异常中仍然很高。

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