Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK.
BJOG. 2010 Jun;117(7):885-8. doi: 10.1111/j.1471-0528.2010.02566.x.
Karyotyping couples that have had recurrent miscarriages detects balanced rearrangements in carrier parents who can be offered prenatal cytogenetic analysis to prevent the birth of a subsequent child with an unbalanced rearrangement. In four UK centres, over periods of 5-30 years, balanced rearrangements were found in 406 out of 20,432 parents that had experienced miscarriage (1.9%), but only four unbalanced rearrangements were found after referral for prenatal diagnosis because of a balanced parental translocation ascertained for recurrent miscarriages. At an estimated cost of 3-4 million pounds, these data raise doubts about the cost effectiveness of current policies on the routine karyotyping of couples experiencing repeated miscarriages.
对反复流产的夫妇进行核型分析可发现携带者父母的平衡重排,从而为他们提供产前细胞遗传学分析,以防止随后生育出不平衡重排的孩子。在英国的四个中心,对经历过流产的 20432 对夫妇中的 406 对(1.9%)进行了 5-30 年的研究,发现了平衡重排,但只有 4 对因反复流产而确定的平衡父母易位导致产前诊断而发现不平衡重排。估计费用为 300 万至 400 万英镑,这些数据对目前关于反复流产夫妇常规核型分析的成本效益产生了质疑。