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尸检绒毛取样:细胞遗传学与超声检查结果的相关性

Postmortem chorionic villus sampling: correlation of cytogenetic and ultrasound findings.

作者信息

Sorokin Y, Johnson M P, Uhlmann W R, Zador I E, Drugan A, Koppitch F C, Moody J, Evans M I

机构信息

Department of Obstetrics/Gynecology, Hutzel Hospital/Wayne State University, Detroit, MI 48201.

出版信息

Am J Med Genet. 1991 Jun 1;39(3):314-6. doi: 10.1002/ajmg.1320390313.

Abstract

We performed chorionic villus samplings (CVS) in 795 cases in the first trimester during a 13-month period. Of these 35 were found to have a blighted ovum or missed abortion prior to the procedure. Nineteen women consented to have CVS. Ultrasonographic and cytogenetic findings in these 19 pregnancies were correlated. Expected gestational age was determined by last menstrual period. Observed gestational age was determined by crown rump length (CRL) (12 pregnancies) or gestational sac (GS) (7 pregnancies without fetal pole). The differences in days between the estimated and observed gestational ages was determined for each pregnancy. In all 19 CVS samples cytogenetic diagnosis documented aneuploidy. Ten cases had chromosome abnormalities virtually always lethal in the embryonic period (group I). Nine pregnancies had defects with moderate potential for fetal viability (group II). Gestations with low viability potential (group I) had estimated minus observed gestational age discrepancies (23.4 +/- 8.3 days) significantly greater than gestations with moderate viability potential (group II) (8.9 +/- 4.3 days) (P less than .001). The absence of a fetal pole was more common in group I. CVS in pregnancies with missed abortion or blighted ovum is feasible and has a high likelihood of documenting aneuploidy. Furthermore, the more severe the anomaly the more likely there will be very early fetal demise or intrauterine growth retardation.

摘要

在13个月的时间里,我们对795例孕早期患者进行了绒毛取样(CVS)。其中,35例在手术前被诊断为空孕囊或稽留流产。19名女性同意进行CVS。对这19例妊娠的超声检查和细胞遗传学结果进行了相关性分析。预期孕周通过末次月经日期确定。观察到的孕周通过头臀长(CRL)(12例妊娠)或妊娠囊(GS)(7例无胎芽的妊娠)确定。计算每个妊娠估计孕周和观察到的孕周之间的天数差异。在所有19例CVS样本中,细胞遗传学诊断均记录为非整倍体。10例病例存在染色体异常,几乎在胚胎期总是致命的(第一组)。9例妊娠存在胎儿存活可能性中等的缺陷(第二组)。存活可能性低的妊娠(第一组)估计孕周减去观察到的孕周差异(23.4±8.3天)显著大于存活可能性中等的妊娠(第二组)(8.9±4.3天)(P<0.001)。第一组中无胎芽的情况更为常见。对稽留流产或空孕囊的妊娠进行CVS是可行的,且很有可能记录到非整倍体。此外,异常越严重,胎儿极早期死亡或宫内生长受限的可能性就越大。

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