中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2011年
9期
649-654
,共6页
钟世林%方群%陈宝江%韩振艳%罗艳敏%陈建生%谢英俊
鐘世林%方群%陳寶江%韓振豔%囉豔敏%陳建生%謝英俊
종세림%방군%진보강%한진염%라염민%진건생%사영준
双生%先天畸形%染色体畸变%非整倍性%产前诊断%核型分析
雙生%先天畸形%染色體畸變%非整倍性%產前診斷%覈型分析
쌍생%선천기형%염색체기변%비정배성%산전진단%핵형분석
Twins%Congenital abnormalities%Chromosome aberrations%Aneuploidy%Prenatal diagnosis%Karyotyping
目的：探讨双胎妊娠中结构异常胎儿的染色体核型异常的临床特征。方法2000年1月-2010年9月，中山大学附属第一医院就诊的双胎妊娠孕妇181例（共362个胎儿），对其中介入性产前诊断的308个胎儿按不同因素分组如下。(1)按孕妇年龄分组：≥35岁孕妇（105个胎儿）为高龄孕妇组；＜35岁孕妇（203个胎儿）为适龄孕妇组。(2)按受孕方式分组：辅助生育孕妇（81个胎儿）为辅助生育组，自然受孕（227个胎儿）为自然受孕组。(3)按绒毛膜性质分组：单绒毛膜双胎（MCT，123个胎儿）为MCT组，双绒毛膜双胎（DCT，185个胎儿）为DCT组。(4)按结构异常分组：205个结构异常胎儿为异常胎儿组，103个正常胎儿为正常胎儿组。对362个胎儿进行超声检查并对其中的308个双胎胎儿行染色体核型分析。结果(1)胎儿染色体核型分析结果：181例双胎孕妇中检出胎儿核型异常23例(12.7％，23/181)，核型异常的23例双胎孕妇中，20例检查了两个胎儿的核型。308个胎儿中检出异常核型的胎儿26个(8.4％，26/308)，以非整倍体最多见，占异常核型的53.8％ (14/26)。205个异常胎儿中21个有染色体核型异常(10.2％，21/205)；103个正常胎儿中5个有染色体异常(4.9％，5/103)，两者比较，差异无统计学意义(P＞0.05)。(2)MCT组和DCT组胎儿染色体核型异常发生率比较：MCT组123个胎儿中7个有染色体异常，发生率为5.7％ (7/123)；DCT组185个胎儿中19个有染色体异常，发生率为10.3％( 19/185)，两组胎儿的染色体异常发生率比较，差异无统计学意义(P＞0.05)。在染色体异常类别中，DCT组有14个胎儿为非整倍体异常，非整倍体率为7.6％(14/185)，而MCT组无一例发生，两组比较，差异有统计学意义(P＜0.05)。DCT组中，两例双胎中因l胎死亡仅检查有结构异常的另一个活胎，分别为21三体和18三体；其余17例均分别检查了两个胎儿，两个胎儿的染色体核型不相同。DCT组19个核型异常的胎儿中，15个胎儿超声检查提示为结构异常(15/19)。MCT组中，4例双胎中有7个胎儿检出染色体异常。(3)高龄孕妇组和适龄孕妇组胎儿染色体异常发生率比较：高龄孕妇组胎儿的染色体异常发生率为7.6％(8/105)，适龄孕妇组为8.9％( 18/203)，两组比较，差异无统计学意义(P＞0.05)；在染色体异常类别中，高龄孕妇组6个胎儿为非整倍体异常(5.7％，6/105)，适龄孕妇组仅8个胎儿(3.9％，8/203)，高龄孕妇组胎儿的非整倍体率显著高于适龄孕妇组，差异有统计学意义(P＜0.05)。(4)辅助生育组和自然受孕组胎儿染色体异常发生率比较：辅助生育组81个胎儿中有l1个染色体异常(13.6％，11/81)，自然受孕组227个胎儿中有15个染色体异常(6.6％，15/227)，差异有统计学意义(P＜0.05)。在染色体异常类别中，辅助生育组7个胎儿为非整倍体异常(8.6％，7/81)，自然受孕组也为7个胎儿(3.1％，7/227)，差异无统计学意义(P＞0.05)。(5)异常胎儿组和正常胎儿组染色体异常发生率比较：异常胎儿组205个胎儿中有21个染色体异常(l0.2％，21/205)，正常胎儿组103个胎儿中有5个染色体异常(4.9％，5/103)，两组比较，差异无统计学意义(P＞0.05)；在染色体异常类别中，异常胎儿组13个胎儿为非整倍体异常(6.3％，13/205)，正常胎儿组仅1个胎儿(1.0％，1/103)，两组比较，差异有统计学意义(P＜0.05)。结论非整倍体是双胎合并胎儿结构异常时最常出现的染色体异常，以21三体最为常见。双胎之间的核型不一致和双胎之一出现非整倍体的情况常见于DCT，而MCT时两个胎儿核型往往一致，但两个胎儿发生相同的染色体异常可能出现不同的表型；双胎之一合并胎儿结构异常时，建议分别对两个胎儿同时行染色体核型分析。
目的：探討雙胎妊娠中結構異常胎兒的染色體覈型異常的臨床特徵。方法2000年1月-2010年9月，中山大學附屬第一醫院就診的雙胎妊娠孕婦181例（共362箇胎兒），對其中介入性產前診斷的308箇胎兒按不同因素分組如下。(1)按孕婦年齡分組：≥35歲孕婦（105箇胎兒）為高齡孕婦組；＜35歲孕婦（203箇胎兒）為適齡孕婦組。(2)按受孕方式分組：輔助生育孕婦（81箇胎兒）為輔助生育組，自然受孕（227箇胎兒）為自然受孕組。(3)按絨毛膜性質分組：單絨毛膜雙胎（MCT，123箇胎兒）為MCT組，雙絨毛膜雙胎（DCT，185箇胎兒）為DCT組。(4)按結構異常分組：205箇結構異常胎兒為異常胎兒組，103箇正常胎兒為正常胎兒組。對362箇胎兒進行超聲檢查併對其中的308箇雙胎胎兒行染色體覈型分析。結果(1)胎兒染色體覈型分析結果：181例雙胎孕婦中檢齣胎兒覈型異常23例(12.7％，23/181)，覈型異常的23例雙胎孕婦中，20例檢查瞭兩箇胎兒的覈型。308箇胎兒中檢齣異常覈型的胎兒26箇(8.4％，26/308)，以非整倍體最多見，佔異常覈型的53.8％ (14/26)。205箇異常胎兒中21箇有染色體覈型異常(10.2％，21/205)；103箇正常胎兒中5箇有染色體異常(4.9％，5/103)，兩者比較，差異無統計學意義(P＞0.05)。(2)MCT組和DCT組胎兒染色體覈型異常髮生率比較：MCT組123箇胎兒中7箇有染色體異常，髮生率為5.7％ (7/123)；DCT組185箇胎兒中19箇有染色體異常，髮生率為10.3％( 19/185)，兩組胎兒的染色體異常髮生率比較，差異無統計學意義(P＞0.05)。在染色體異常類彆中，DCT組有14箇胎兒為非整倍體異常，非整倍體率為7.6％(14/185)，而MCT組無一例髮生，兩組比較，差異有統計學意義(P＜0.05)。DCT組中，兩例雙胎中因l胎死亡僅檢查有結構異常的另一箇活胎，分彆為21三體和18三體；其餘17例均分彆檢查瞭兩箇胎兒，兩箇胎兒的染色體覈型不相同。DCT組19箇覈型異常的胎兒中，15箇胎兒超聲檢查提示為結構異常(15/19)。MCT組中，4例雙胎中有7箇胎兒檢齣染色體異常。(3)高齡孕婦組和適齡孕婦組胎兒染色體異常髮生率比較：高齡孕婦組胎兒的染色體異常髮生率為7.6％(8/105)，適齡孕婦組為8.9％( 18/203)，兩組比較，差異無統計學意義(P＞0.05)；在染色體異常類彆中，高齡孕婦組6箇胎兒為非整倍體異常(5.7％，6/105)，適齡孕婦組僅8箇胎兒(3.9％，8/203)，高齡孕婦組胎兒的非整倍體率顯著高于適齡孕婦組，差異有統計學意義(P＜0.05)。(4)輔助生育組和自然受孕組胎兒染色體異常髮生率比較：輔助生育組81箇胎兒中有l1箇染色體異常(13.6％，11/81)，自然受孕組227箇胎兒中有15箇染色體異常(6.6％，15/227)，差異有統計學意義(P＜0.05)。在染色體異常類彆中，輔助生育組7箇胎兒為非整倍體異常(8.6％，7/81)，自然受孕組也為7箇胎兒(3.1％，7/227)，差異無統計學意義(P＞0.05)。(5)異常胎兒組和正常胎兒組染色體異常髮生率比較：異常胎兒組205箇胎兒中有21箇染色體異常(l0.2％，21/205)，正常胎兒組103箇胎兒中有5箇染色體異常(4.9％，5/103)，兩組比較，差異無統計學意義(P＞0.05)；在染色體異常類彆中，異常胎兒組13箇胎兒為非整倍體異常(6.3％，13/205)，正常胎兒組僅1箇胎兒(1.0％，1/103)，兩組比較，差異有統計學意義(P＜0.05)。結論非整倍體是雙胎閤併胎兒結構異常時最常齣現的染色體異常，以21三體最為常見。雙胎之間的覈型不一緻和雙胎之一齣現非整倍體的情況常見于DCT，而MCT時兩箇胎兒覈型往往一緻，但兩箇胎兒髮生相同的染色體異常可能齣現不同的錶型；雙胎之一閤併胎兒結構異常時，建議分彆對兩箇胎兒同時行染色體覈型分析。
목적：탐토쌍태임신중결구이상태인적염색체핵형이상적림상특정。방법2000년1월-2010년9월，중산대학부속제일의원취진적쌍태임신잉부181례（공362개태인），대기중개입성산전진단적308개태인안불동인소분조여하。(1)안잉부년령분조：≥35세잉부（105개태인）위고령잉부조；＜35세잉부（203개태인）위괄령잉부조。(2)안수잉방식분조：보조생육잉부（81개태인）위보조생육조，자연수잉（227개태인）위자연수잉조。(3)안융모막성질분조：단융모막쌍태（MCT，123개태인）위MCT조，쌍융모막쌍태（DCT，185개태인）위DCT조。(4)안결구이상분조：205개결구이상태인위이상태인조，103개정상태인위정상태인조。대362개태인진행초성검사병대기중적308개쌍태태인행염색체핵형분석。결과(1)태인염색체핵형분석결과：181례쌍태잉부중검출태인핵형이상23례(12.7％，23/181)，핵형이상적23례쌍태잉부중，20례검사료량개태인적핵형。308개태인중검출이상핵형적태인26개(8.4％，26/308)，이비정배체최다견，점이상핵형적53.8％ (14/26)。205개이상태인중21개유염색체핵형이상(10.2％，21/205)；103개정상태인중5개유염색체이상(4.9％，5/103)，량자비교，차이무통계학의의(P＞0.05)。(2)MCT조화DCT조태인염색체핵형이상발생솔비교：MCT조123개태인중7개유염색체이상，발생솔위5.7％ (7/123)；DCT조185개태인중19개유염색체이상，발생솔위10.3％( 19/185)，량조태인적염색체이상발생솔비교，차이무통계학의의(P＞0.05)。재염색체이상유별중，DCT조유14개태인위비정배체이상，비정배체솔위7.6％(14/185)，이MCT조무일례발생，량조비교，차이유통계학의의(P＜0.05)。DCT조중，량례쌍태중인l태사망부검사유결구이상적령일개활태，분별위21삼체화18삼체；기여17례균분별검사료량개태인，량개태인적염색체핵형불상동。DCT조19개핵형이상적태인중，15개태인초성검사제시위결구이상(15/19)。MCT조중，4례쌍태중유7개태인검출염색체이상。(3)고령잉부조화괄령잉부조태인염색체이상발생솔비교：고령잉부조태인적염색체이상발생솔위7.6％(8/105)，괄령잉부조위8.9％( 18/203)，량조비교，차이무통계학의의(P＞0.05)；재염색체이상유별중，고령잉부조6개태인위비정배체이상(5.7％，6/105)，괄령잉부조부8개태인(3.9％，8/203)，고령잉부조태인적비정배체솔현저고우괄령잉부조，차이유통계학의의(P＜0.05)。(4)보조생육조화자연수잉조태인염색체이상발생솔비교：보조생육조81개태인중유l1개염색체이상(13.6％，11/81)，자연수잉조227개태인중유15개염색체이상(6.6％，15/227)，차이유통계학의의(P＜0.05)。재염색체이상유별중，보조생육조7개태인위비정배체이상(8.6％，7/81)，자연수잉조야위7개태인(3.1％，7/227)，차이무통계학의의(P＞0.05)。(5)이상태인조화정상태인조염색체이상발생솔비교：이상태인조205개태인중유21개염색체이상(l0.2％，21/205)，정상태인조103개태인중유5개염색체이상(4.9％，5/103)，량조비교，차이무통계학의의(P＞0.05)；재염색체이상유별중，이상태인조13개태인위비정배체이상(6.3％，13/205)，정상태인조부1개태인(1.0％，1/103)，량조비교，차이유통계학의의(P＜0.05)。결론비정배체시쌍태합병태인결구이상시최상출현적염색체이상，이21삼체최위상견。쌍태지간적핵형불일치화쌍태지일출현비정배체적정황상견우DCT，이MCT시량개태인핵형왕왕일치，단량개태인발생상동적염색체이상가능출현불동적표형；쌍태지일합병태인결구이상시，건의분별대량개태인동시행염색체핵형분석。
Objective To investigate the clinical features of the abnormal chromosome karyotypes in twin pregnancies complicated with fetal malformations. Methods Totally 181 twin pregnancies (362 fetuses) in which one or two fetuses had abnormalities diagnosed by ultrasound were referred to the First Affiliated Hospital of Sun Yat-Sen University from January, 2000 to September, 2010. They were divided into different groups according to ( 1 ) maternal age: the cases with maternal age ≥35 were divided into advanced pregnancy group ( 105 fetuses) , and those with maternal age ＜35 were divided into young pregnancy group (203 fetuses) ; ( 2 ) conceived method : those conceived by assisted reproductive technology were divided into assisted reproductive group (81 fetuses), and the natural conception pregnancies were divided into natural conception group (227 fetuses) ; ( 3 ) chorionicity: the monochorionic twin (MCT) pregnancies were divided into MCT group( 123 fetuses), and the dichorionic twin (DCT) pregnancies were divided into DCT group( 185 fetuses); (4) structural abnormalities: 205 fetuses with structural abnormalities were divided into the abnormal fetal group, and 103 fetuses without structural abnormalities were divided into the normal fetal group. All fetuses were examined by the ultrasound and chromosomes were examined in 308 fetuses. Results ( 1 ) The karyotype of fetuses: among 181 twin pregnancies, 23 cases had chromosomal abnormalities in 1 or 2 fetuses ( 12. 7％ ,23/181 ), and chromosomes were exarmined in both fetuses in 20 of 23 cases. Twenty-six of 308 fetuses were found with abnormal chromosomes ( 8.4％, 26/308 ) , and the aneuploid was the most common type of abnormal karyotypes ( 53.8％ , 14/26 ). Twenty-one of 205 fetuses with malformations were found with abnormal karyotypes (10. 2％, 21/205 ). (2) Seven of 123 fetuses in MCT group were with abnormal karyotypes (5.7％, 7/123), and 19 of 185 fetuses in DCT group were with abnormal karyotypes ( 10. 3％, 19/185 ). There was no statistical difference of abnormal chromosome incidence between the two groups. There were 14 fetuses with aneuploid in DCT group ( 7.6％, 14/185 ) ;but there was no fetus with aneuploid in MCT group. There was statistical difference between these two groups. In two cases of DCT group, only one fetus with malformation received chromosome examination because another fetus was dead, and the karyotypes were trisomy 21 and trisomy 18 respectively. Both fetuses of the rest 17 cases received chromosome examination, and the chromosomes of both fetuses in each pregnancy were different. Fifteen of 19 fetuses with abnormal chromosomes in DCT group were complicated with structural abnormalities, and 7 fetuses of 4 twin pregnancies in MCT group were with chromosomal abnormalities. (3) The comparison of the abnormal karyotype incidence between the advanced pregnancy group and young pregnancy group: the abnormal karyotype incidence of the advanced pregnancy group was 7. 6％ (8/105), and that was 8.9％ (18/203) in young pregnancy group. There was no statistical difference between the two groups ( P ＞ 0. 05 ). Six of 105 fetuses in advanced pregnancy group were aneuploids (5. 7％, 6/105), and 8 of 203 fetuses in young pregnancy group were aneuploids (3.9％, 8/203). The aneuploid incidence in advanced pregnancy group was significantly higher than that in young pregnancy group ( P ＜ 0. 05 ). (4) The comparison of the abnormal karyotype incidence between the assisted reproductive group and the natural conception group: 11 of 81 fetuses were with the abnormal karyotypes in assisted reproductive group ( 13. 6％, 11/81 ), and 15 of 227 fetuses were with the abnormal karyotypes in assisted reproductive group (6. 6％, 15/227). There was statistical difference between the two groups ( P ＜0. 05). There were 7 fetuses with the aneuploid in assisted reproductive group ( 8. 6％, 7/81 ) and 7 fetuses with the aneuploid in natural conception group ( 3. 1％, 7/227 ), which showed no statistical difference ( P ＞0. 05 ).(5) The comparison of the abnormal karyotype incidence between the abnormal fetal group and normal fetal group: 21 of 205 fetuses in abnormal fetal group were with abnormal karyotypes (10. 2％, 21/205), and 5 of 103 fetuses in normal fetal group were with abnormal karyotypes ( 4. 9％, 5/103 ) . There was no statistical difference (P ＞ 0. 05 ). 13 fetuses in abnormal fetal group were with the aneuploid (6. 3％, 1 3/205), and only one fetus in normal fetal group was aneuploid (1.0％, 1/103 ). There was statistical difference between the two groups ( P ＜ 0. 05 ). Conclusions Aneuploid is the most common abnormal karyotype in twin pregnancy complicated with fetal abnormalities, especially trisomy 21. Aneuploid mainly occurs in only one fetus of DCT, and chromosomal discordance is usually found in DCT. While in MCT, the twin fetuses with the same abnormal karyotype may have different pbenotypes. The results suggest that it is necessary to analyze both karyotypes of twins even if only one fetus is complicated with structural abnormalities.
