【摘要】：目的 :探討染色體平衡易位攜帶者的生育風(fēng)險(xiǎn),為孕前咨詢和胚胎植入前遺傳學(xué)診斷提供依據(jù)。方法 :對(duì)173例染色體平衡易位攜帶者按照易位類型、性別、易位斷裂點(diǎn)位置進(jìn)行分組,并評(píng)估各組的生殖風(fēng)險(xiǎn)。結(jié)果:1173例染色體平衡易位攜帶者中145例有妊娠史,共妊娠312次,其中自然流產(chǎn)248次,B超提示胎兒畸形或羊水染色體異常引產(chǎn)4次,分娩正�；蚱胶庖孜缓蟠�60次。相互易位攜帶者自然流產(chǎn)的風(fēng)險(xiǎn)顯著高于羅氏易位攜帶者,差異有統(tǒng)計(jì)學(xué)意義(87.3%vs.64.5%,P0.05);2145例中,相互易位攜帶者96例,其中有近端著絲粒染色體參與易位者自然流產(chǎn)的風(fēng)險(xiǎn)明顯高于非近端著絲粒染色體參與易位者,差異有統(tǒng)計(jì)學(xué)意義(92.7%vs.81.2%,P0.05);染色體末端斷裂者自然流產(chǎn)的風(fēng)險(xiǎn)高于非末端斷裂者,差異有統(tǒng)計(jì)學(xué)意義(95.5%vs.81.4%,P0.05);3男性攜帶者53例,18例為原發(fā)不育,35例有妊娠史;女性120例,10例為原發(fā)不孕,110例有妊娠史;男性攜帶者原發(fā)不育的發(fā)生率明顯高于女性,差異有統(tǒng)計(jì)學(xué)意義(34.0%vs.8.3%,P0.05);女性攜帶者自然流產(chǎn)風(fēng)險(xiǎn)高于男性,差異有統(tǒng)計(jì)學(xué)意義(83.7%vs.71.2%,P0.05)。結(jié)論:1染色體易位攜帶者自然妊娠風(fēng)險(xiǎn)非常大,主要以早孕期自然流產(chǎn)為主;2染色體相互易位攜帶者的自然妊娠風(fēng)險(xiǎn)明顯高于羅氏易位攜帶者;3相互易位攜帶者中,有近端著絲粒染色體參與易位者及染色體末端斷裂者的自然妊娠風(fēng)險(xiǎn)分別高于非近端著絲粒染色體參與易位者及染色體非末端斷裂者;4女性平衡易位攜帶者自然妊娠風(fēng)險(xiǎn)高于男性;5染色體平衡易位可能嚴(yán)重影響男性的生育能力,對(duì)女性生育能力的影響不明顯。
[Abstract]:Objective: to explore the reproductive risk of chromosome balanced translocation carriers and to provide evidence for prepregnancy counseling and preimplantation genetic diagnosis. Methods: 173 chromosome balanced translocation carriers were divided into three groups according to translocation type, sex and translocation breakpoints, and the reproductive risk of each group was evaluated. Results 145 of 1173 chromosomal balanced translocation carriers had a history of pregnancy, of which 248 were spontaneous miscarriage. B-mode ultrasound suggested that fetal malformation or amniotic fluid chromosomal abnormalities were induced 4 times, and normal or balanced translocation offspring 60 times. The risk of spontaneous abortion of reciprocal translocation carriers was significantly higher than that of Roche translocation carriers. The difference was statistically significant (87.3% vs. 64.5% P0.05). Among 2145 cases, 96 cases were reciprocal translocation carriers. The risk of spontaneous abortion in those with proximal centromere chromosomes involved in translocation was significantly higher than that in non-proximal telocentric chromosomes (92.7vs.81.2p0.05), and the risk of spontaneous abortion was higher in those with chromosomal terminal breakage than those with non-terminal breakage (P < 0.05). The difference was statistically significant (95.5vs.81.4) 53 male carriers (18 cases) with primary infertility, 35 cases with pregnancy history, 120 cases (10 cases) with primary infertility and 110 cases with pregnancy history. The incidence of primary infertility in male carriers was significantly higher than that in women. The difference was statistically significant (34.0vs.8.3), and the risk of spontaneous abortion in female carriers was higher than that in males (83.7vs.71.2). Conclusion the natural pregnancy risk of chromosome 1 translocation carrier is very high. The natural pregnancy risk of chromosome 2 chromosome translocation carrier is significantly higher than that of roche translocation carrier. The risk of natural pregnancy in those with proximal centromere chromosomes involved in translocation and chromosome terminal breakage were higher than those with non-proximal centromere chromosomes participating in translocation and non-terminal chromosomal breakage. 4 Women with balanced translocation carriers were at higher risk than those with non-proximal centromere chromosomes participating in translocation. The risk of pregnancy is higher than that of male chromosome 5 balanced translocation, which may seriously affect male fertility. The effect on female fertility is not obvious.
【作者單位】： 南京醫(yī)科大學(xué)附屬蘇州醫(yī)院生殖與遺傳中心;杭州市婦產(chǎn)科醫(yī)院婦產(chǎn)科;
【基金】：江蘇省婦幼保健科研項(xiàng)目(F201317,F201443) 蘇州市科技發(fā)展計(jì)劃(SYS201359)
【分類號(hào)】：R715.5

【共引文獻(xiàn)】

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