Department of Obstetrics and Gynecology, University Medical Center Ljubljana, Slajmerjeva 3, 1000 Ljubljana, Slovenia.
J Perinat Med. 2012 Jan 10;40(3):251-4. doi: 10.1515/jpm.2011.140.
To investigate the association between increased yolk sac diameter and abnormal karyotype.
Retrospective analysis of 42 patients with no history of diabetes between 6 and 12 weeks of gestation with increased yolk sac diameter measuring ≥6 mm was evaluated by transvaginal ultrasound. Sonographic findings were correlated with karyotype. The Fisher's exact test and exact conditional logistic regression analysis were used for statistical analysis.
Chromosome abnormalities were found in 76.2% of chorionic villi samples. A statistically significant relationship between karyotype and missed abortion was detected (P=0.001). None of the patients with a yolk size diameter ≥8 mm and viable pregnancy had a normal karyotype. Trisomy 15 or 16 was strongly associated with missed abortion (unadjusted odds ratio=14.97, P=0.01). Nine patients with viable pregnancy had a yolk sac ≥6 mm (six patients with normal karyotype, one patient with monosomy X, one patient with trisomy 16, and one patient with trisomy 21).
Our data indicate that enlarged yolk sac may also be visualized in viable pregnancies. Patients with an enlarged yolk sac and normal karyotype require detailed ultrasound evaluation in the second and third trimester.
探讨卵黄囊直径增大与异常核型之间的关系。
对 42 例 6-12 周妊娠、卵黄囊直径≥6mm 的无糖尿病史患者进行经阴道超声检查。对超声结果与核型进行相关性分析。采用 Fisher 确切概率检验和精确条件 logistic 回归分析进行统计学分析。
绒毛膜活检标本中染色体异常占 76.2%。核型与稽留流产之间存在统计学显著相关性（P=0.001）。卵黄囊直径≥8mm 且有存活妊娠的患者无一例核型正常。15 号或 16 号三体与稽留流产密切相关（未校正比值比=14.97，P=0.01）。9 例有存活妊娠的患者卵黄囊≥6mm（6 例核型正常，1 例单体 X，1 例 16 三体，1 例 21 三体）。
我们的数据表明，在有存活妊娠的情况下也可能出现卵黄囊增大。卵黄囊直径增大且核型正常的患者需要在第二和第三个孕期进行详细的超声评估。
