D'Ottavio G, Meir Y J, Rustico M A, Pecile V, Fischer-Tamaro L, Conoscenti G, Natale R, Mandruzzato G P
Department of Obstetrics and Gynecology, Istituto per l'Infanzia Burlo Garofolo, Trieste, Italy.
Ultrasound Obstet Gynecol. 1997 Dec;10(6):375-80. doi: 10.1046/j.1469-0705.1997.10060375.x.
A prospective study of screening for fetal abnormalities and chromosomal defects was carried out by ultrasound examination at 13-15 weeks of gestation and 20-22 weeks; the first scan was performed transvaginally and the second transabdominally. During a 4-year period (1991-95), 3490 unselected consecutive pregnancies with a total of 3514 fetuses were examined. There were 21 chromosomally abnormal fetuses, including ten with trisomy 21, and, in 19 (90.5%), fetal defects were detected at the first and/or second ultrasound examination. The most effective marker for chromosomal defects was increased nuchal translucency thickness (> or = 4 mm) at the 13-15-week scan, which was present in seven of the ten fetuses with trisomy 21 and in six of the 11 with other chromosomal abnormalities.
在妊娠13 - 15周和20 - 22周时,通过超声检查对胎儿异常和染色体缺陷进行了一项前瞻性研究;第一次扫描经阴道进行,第二次经腹部进行。在4年期间(1991 - 1995年),对3490例未经选择的连续妊娠共3514例胎儿进行了检查。有21例染色体异常胎儿,包括10例21三体胎儿,其中19例(90.5%)在第一次和/或第二次超声检查时检测到胎儿缺陷。染色体缺陷最有效的标志物是13 - 15周扫描时颈部半透明厚度增加(≥4 mm),10例21三体胎儿中有7例出现这种情况,11例其他染色体异常胎儿中有6例出现这种情况。