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在孕早期要对胎儿作遗传疾病诊断主要靠绒毛膜绒毛的取样和制作。绒毛膜组织来源于受精卵,并认为与胎儿具有相同的遗传组成,而且在8～12孕周内能很容易地取样。同60年代后期,绒毛膜绒毛取样(CVS)已作为中期妊娠羊膜穿刺术的替代方法,到80年代初发展成安全而成功的常规方法并能作出可靠的诊断。这种新的方法减少了以往要到中期妊娠才能作诊断的长时间等待及某些晚期流产的产科或心理并发症。并使胎儿诊断在许多由于法律或宗教原因禁止中期流产的人群中成为可以接受的方法。上述理由可以解释目前世界上许多国家中孕早期胎儿诊断的要求呈戏剧性地增加和扩展的趋势。目前采纳的有二种主要的取样方法,即用脊椎针通过母体腹壁和用有韧性的插管或硬性活检镊
In the first trimester to make fetal diagnosis of genetic diseases mainly by the chorionic villus sampling and production. Chorionic tissue is derived from fertilized eggs and is considered to have the same genetic makeup as the fetus and can be easily sampled within 8-12 weeks of gestation. As in the late 1960s, chorionic villus sampling (CVS) has been used as an alternative to metaphase amniocentesis and developed into a safe and successful routine in the early 1980s for reliable diagnosis. This new method reduces the long waiting times and the obstetric or psychological complications of some late abortions that were previously diagnosed in the middle of pregnancy. And make fetus diagnosis an acceptable method in many people who have barred from miscarriages for legal or religious reasons. The above reasons may explain the trend of dramatic increase and expansion of the demand for fetal diagnosis in early pregnancy in many countries in the world at present. There are currently two major sampling methods that have been adopted: using a spinal needle through the maternal abdominal wall and using a ductile cannula or a rigid biopsy forceps