MMWR Recomm Rep. 1995 Jul 21;44(RR-9):1-12.
Chorionic villus sampling (CVS) and amniocentesis are prenatal diagnostic procedures that are performed to detect fetal abnormalities. In 1991, concerns about the relative safety of these procedures arose after reports were published that described a possible association between CVS and birth defects in infants. Subsequent studies support the hypothesis that CVS can cause transverse limb deficiencies. Following CVS, rates of these defects, estimated to be 0.03%-0.10% (1/3,000-1/1,000), generally have been increased over background rates. Rates and severity of limb deficiencies are associated with the timing of CVS; most of the birth defects reported after procedures that were performed at > or = 70 days' gestation were limited to the fingers or toes. The risk for either digital or limb deficiency after CVS is only one of several important factors that must be considered in making complex and personal decisions about prenatal testing. For example, CVS is generally done earlier in pregnancy than amniocentesis and is particularly advantageous for detecting certain genetic conditions. Another important factor is the risk for miscarriage, which has been attributed to 0.5%-1.0% of CVS procedures and 0.25%-0.50% of amniocentesis procedures. Prospective parents considering the use of either CVS or amniocentesis should be counseled about the benefits and risks of these procedures. The counselor should also discuss both the mother's and father's risk(s) for transmitting genetic abnormalities to the fetus.
绒毛取样（CVS）和羊膜穿刺术是用于检测胎儿异常的产前诊断程序。1991年，在有关描述CVS与婴儿出生缺陷之间可能存在关联的报告发表后，人们开始关注这些程序的相对安全性。随后的研究支持了CVS可导致横向肢体缺陷的假说。CVS之后，这些缺陷的发生率估计为0.03%-0.10%（1/3000-1/1000），总体上高于背景发生率。肢体缺陷的发生率和严重程度与CVS的时间有关；在妊娠≥70天进行的手术后报告的大多数出生缺陷仅限于手指或脚趾。CVS后出现手指或肢体缺陷的风险只是在做出关于产前检测的复杂个人决定时必须考虑的几个重要因素之一。例如，CVS通常在孕期比羊膜穿刺术进行得更早，对于检测某些遗传疾病特别有利。另一个重要因素是流产风险，CVS手术的流产风险为0.5%-1.0%，羊膜穿刺术手术的流产风险为0.25%-0.50%。应向考虑使用CVS或羊膜穿刺术的准父母提供有关这些程序的益处和风险的咨询。咨询人员还应讨论母亲和父亲将遗传异常传递给胎儿的风险(s)。
