Settin Ahmad, Alkasem RababAbo, Ali Ehab, ElBaz Rizk, Mashaley Abdel Megid
Genetics Unit, Mansoura University Children Hospital, Egypt.
Hematology. 2011 Jan;16(1):59-63. doi: 10.1179/102453311X12902908411959.
Thrombophilias have been suggested as a possible cause of recurrent pregnancy loss (RPL).
Testing for the association of factor V Leiden (FVL) and prothrombin (FII) mutations with RPL among cases from the Nile Delta region of Egypt.
Participants included 72 cases having a history of two or more events of unexplained RPL and 70 controls with a good obstetric history. Detection of FVL (G1691A) and FII (G20210A) mutations was carried out using PCR with sequence specific primers.
Cases showed a significantly higher frequency of FVL GA (OR = 21·38, P<0·0001) and FII GA (OR = 36·7, P<0·0001) genotypes. Cases with two or more risk factors had significant higher frequency of both mutant genotypes, while no significant difference could be elicited related to primary or secondary infertility, number of fetal losses, or phase of pregnancy loss.
Screening for thrombophilic mutations may help in the prevention of unexplained RPL.
血栓形成倾向被认为是复发性流产（RPL）的一个可能原因。
检测埃及尼罗河三角洲地区病例中凝血因子V莱顿（FVL）和凝血酶原（FII）突变与复发性流产的相关性。
参与者包括72例有两次或更多次不明原因复发性流产病史的病例以及70例有良好产科病史的对照。使用序列特异性引物的聚合酶链反应（PCR）检测FVL（G1691A）和FII（G20210A）突变。
病例组中FVL GA（比值比[OR]=21.38，P<0.0001）和FII GA（OR=36.7，P<0.0001）基因型的频率显著更高。有两个或更多风险因素的病例中两种突变基因型的频率显著更高，而在原发性或继发性不孕、胎儿丢失数量或流产阶段方面未发现显著差异。
筛查血栓形成倾向突变可能有助于预防不明原因的复发性流产。
