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特发性羊水过多患者染色体异常的风险。

Risk of chromosomal abnormalities in patients with idiopathic polyhydramnios.

作者信息

Brady K, Polzin W J, Kopelman J N, Read J A

机构信息

Department of Obstetrics and Gynecology, Madigan Army Medical Center, Tacoma, Washington.

出版信息

Obstet Gynecol. 1992 Feb;79(2):234-8.

PMID:1731291
Abstract

This prospective investigation was designed to assess the incidence of chromosomal abnormalities in patients with idiopathic polyhydramnios. Polyhydramnios was defined as 25 cm or greater in total vertical height in all four quadrants (amniotic fluid index) in any nonreferral patient (ie, primary care population) undergoing sonographic examination with a singleton pregnancy, normal fetal anatomical survey, normal glucose screening, and negative antibody screen. During the 2-year period from May 1, 1988 through April 30, 1990, 5038 gravidas delivered at Madigan Army Hospital Center. Unexplained polyhydramnios was detected sonographically in 125 patients, an incidence of 2.5%. After obtaining informed written consent, amniocentesis was performed in all patients. Within this group (N = 125), four chromosomal abnormalities (incidence of 3.2%) were detected. There were two trisomy 18 and two trisomy 21 fetuses. None of the four patients had maternal serum alpha-fetoprotein screening performed. The incidence of aneuploidy in patients with idiopathic polyhydramnios (3.2%) is much higher than the reported incidence of major karyotype abnormalities in live births (0.59%). We conclude that fetal chromosomal analysis should be considered in all obstetric patients with sonographic evidence of idiopathic polyhydramnios.

摘要

本前瞻性研究旨在评估特发性羊水过多患者染色体异常的发生率。羊水过多定义为在接受超声检查的任何非转诊患者(即初级保健人群)中,单胎妊娠、胎儿解剖结构检查正常、葡萄糖筛查正常且抗体筛查阴性的情况下,四个象限的总垂直深度(羊水指数)达到25厘米或更高。在1988年5月1日至1990年4月30日的两年期间,马迪根陆军医院中心有5038名孕妇分娩。超声检查发现125例患者原因不明的羊水过多,发生率为2.5%。在获得知情书面同意后,对所有患者进行了羊膜腔穿刺术。在这组患者(N = 125)中,检测到4例染色体异常(发生率为3.2%)。有2例18三体胎儿和2例21三体胎儿。这4例患者均未进行母血清甲胎蛋白筛查。特发性羊水过多患者的非整倍体发生率(3.2%)远高于活产中主要核型异常的报道发生率(0.59%)。我们得出结论,对于所有超声检查显示特发性羊水过多的产科患者,均应考虑进行胎儿染色体分析。

相似文献

1
Risk of chromosomal abnormalities in patients with idiopathic polyhydramnios.特发性羊水过多患者染色体异常的风险。
Obstet Gynecol. 1992 Feb;79(2):234-8.
2
Risk of fetal chromosomal abnormalities in idiopathic polyhydramnios.
Zhonghua Yi Xue Za Zhi (Taipei). 1996 Jan;57(1):42-6.
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Ultrasound-adjusted risk and spectrum of fetal chromosomal abnormality in women with elevated maternal serum alpha-fetoprotein.母血清甲胎蛋白升高女性胎儿染色体异常的超声校正风险及谱系
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The association of aneuploidy and unexplained elevated maternal serum alpha-fetoprotein.
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Karyotypic abnormalities and hydramnios. Role of amniocentesis.染色体核型异常与羊水过多。羊膜腔穿刺术的作用。
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The association between polyhydramnios and preterm delivery.羊水过多与早产之间的关联。
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Obstet Gynecol. 1990 Jun;75(6):989-93.
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Is polyhydramnios in an ultrasonographically normal fetus an indication for genetic evaluation?超声检查正常的胎儿出现羊水过多是否需要进行基因评估?
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Abnormal maternal serum alpha fetoprotein and pregnancy outcome.异常母血清甲胎蛋白与妊娠结局
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引用本文的文献

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BMC Pregnancy Childbirth. 2025 Jul 3;25(1):707. doi: 10.1186/s12884-025-07797-5.
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Amniotic fluid as a vital sign for fetal wellbeing.羊水作为胎儿健康的重要体征。
Australas J Ultrasound Med. 2013 May;16(2):62-70. doi: 10.1002/j.2205-0140.2013.tb00167.x. Epub 2015 Dec 31.
3
Polyhydramnios: Causes, Diagnosis and Therapy.羊水过多:病因、诊断与治疗
Geburtshilfe Frauenheilkd. 2013 Dec;73(12):1241-1246. doi: 10.1055/s-0033-1360163.
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Perinatal outcomes of idiopathic polyhydramnios.特发性羊水过多的围产期结局
Interv Med Appl Sci. 2013 Mar;5(1):21-5. doi: 10.1556/IMAS.5.2013.1.4. Epub 2013 Mar 19.
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A prospective clinical study of feto-maternal outcome in pregnancies with abnormal liquor volume.羊水过少妊娠中母胎结局的前瞻性临床研究。
J Obstet Gynaecol India. 2011 Dec;61(6):652-5. doi: 10.1007/s13224-011-0116-6. Epub 2012 Feb 9.