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[产前诊断。I:委内瑞拉马拉开波苏利亚大学医学遗传学单位的产前诊断项目]

[Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

作者信息

Prieto-Carrasquero M, Molero A, Carrasquero N, Paz V, González S, Pineda-Del Villar L, Del Villar A, Rojas-Atencio A, Quintero M, Fulcado W, Mena R, Morales-Machin A

机构信息

Unidad de Genetica Médica, Facultad de Medicina, Universidad del Zulia.

出版信息

Invest Clin. 1998 Jun;39(2):97-116.

PMID:9707921
Abstract

The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

摘要

苏利亚大学医学遗传科的产前诊断项目有以下目标

识别前往产前遗传诊所的夫妇中的遗传风险因素(GRF),应用不同的产前诊断程序(PDP),并提供充分的遗传咨询。本文的目的是展示1993年1月至1996年12月期间获得的初步结果。通过确定GRF并考虑遗传临床病史,对321名孕妇进行了分析。分析的GRF包括:高龄产妇(AMA)、先天性畸形病史(CMH)、前一个孩子患有染色体异常(PCCA)、神经管缺陷病史(DNTH)、先天性心脏病病史(CHDH)、任何一方父母为染色体异常携带者(PCA)、习惯性流产(HA)、异常胎儿超声检查(AFE)、孕妇血清甲胎蛋白水平改变(AMSAFP)以及其他:接触致畸剂、孟德尔疾病病史、孕妇全身性疾病以及母亲或其伴侣的焦虑。PDP根据GRF进行设计,包括胎儿超声检查(FE)、胎儿超声心动图检查(FEc)、羊膜穿刺术(AMN)、脐带穿刺术(CCT)和AMSAFP。结果显示,58.4%的准妈妈在孕中期寻求咨询,70%的孕妇仅显示一种GRF,AMA是最常见的GRF(40.3%),其次依次是PCCA、AFE、CHDH、HA、DNTH、PCA和其他。应用于已识别GRF的特定PDP有助于对胎儿进行健康评估。GRF的识别为制定产前诊断项目提供了机会,该项目能够满足夫妇的需求,并表明针对任何准妈妈进行综合多学科管理以识别任何高GRF的实用性。

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