Szabó J, Gellén J, Szemere G, Faragó M
Szülészeti és Nógyógyászati Klinika, Szent-Györgyi Albert Orvostudományi Egyetem, Szeged.
Orv Hetil. 1996 Oct 20;137(42):2313-5.
Recently, the measurement of the thickness and extent of the first-trimester posterior simple embryonic hygroma by vaginal ultrasound has become the most efficient method in the antenatal screening for chromosomal aneuploidies. The sensitivity of the screening is only 75-90%, therefore, the search for other potential (sonographic) markers is needed in order to increase the efficiency. Ultrasound measurement of the echogenicity and the diameter of yolk sac and the thickness of dorso-posterior simple embryonic hygroma was carried out in 3620 first-trimester pregnancies between 9-11 weeks. A total of 105 embryos with simple hygroma of > or = 3 mm and 39 pregnancies with abnormal, hyperechogenic yolk sac of 1.8-4.0 mm in diameter were detected. Cytogenetic analysis through chorionic villi samples revealed chromosomal aneuploidies in 52 cases. In 19 of 3620 pregnancies both hyperechogenic yolk sac and first trimester simple hygroma were present. Each of these 19 pregnancies were chromosomally abnormal. Hyperechogenic yolk sac alone was present in another 20 pregnancies with otherwise normal fetal findings. The authors could not accomplish sonographic identification of the yolk sac in 42 pregnancies. In conclusion, combined presence of hyperechogenic yolk sac plus first-trimester simple hygroma of 3 mm or more in the same pregnancy is highly associated with chromosomal aneuploidy between the 9-11 gestational weeks.
最近，经阴道超声测量孕早期单纯胚胎后颈部水囊瘤的厚度和范围已成为产前筛查染色体非整倍体最有效的方法。然而，该筛查的敏感性仅为75 - 90%，因此，需要寻找其他潜在的（超声）标志物以提高筛查效率。对3620例孕9 - 11周的孕早期孕妇进行了超声测量卵黄囊的回声性和直径以及胚胎后颈部单纯水囊瘤的厚度。共检测到105例水囊瘤≥3 mm的胚胎以及39例直径为1.8 - 4.0 mm的异常高回声卵黄囊的妊娠。通过绒毛取样进行的细胞遗传学分析显示52例存在染色体非整倍体。在3620例妊娠中，有19例同时存在高回声卵黄囊和孕早期单纯水囊瘤，这19例妊娠的染色体均异常。另有20例妊娠仅存在高回声卵黄囊，而胎儿其他检查结果正常。作者在42例妊娠中未能通过超声识别出卵黄囊。总之，同一妊娠中高回声卵黄囊与3 mm或以上的孕早期单纯水囊瘤同时存在，与孕9 - 11周的染色体非整倍体高度相关。
