羊膜腔穿刺产前诊断在50对双胎妊娠中的应用
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摘要
目的研究羊膜腔穿刺术在双胎妊娠产前诊断的临床应用情况。方法对50例双胎妊娠孕妇行羊膜腔穿刺术,取羊水行荧光定量聚合酶链反应(QF-PCR)检测及核型分析。双绒双羊双胎(DCDA)行多态性微卫星标记位点检测(STR)确定合子性质。结果 50例因不同指征接受羊水穿刺的双胎孕妇,单次穿刺成功率,单绒双羊为100%,双绒双羊为97.4%。经STR分析确定双绒双羊双胎中35对获得两个胎儿的羊水样本,2对仅获得同一胎儿的羊水样本。术后14天均未发生流产。羊水QF-PCR和核型分析结果正常。结论双胎妊娠进行羊膜腔穿刺术是相对安全、可靠的产前诊断方法。合理把握指征,STR位点检测确定合子性质有利于双胎羊膜腔穿刺术更为有效的开展。
Objective:To study the clinical application of amniocentesis in the prenatal diagnosis of twin pregnancy. Methods: Amniocentesis was performed on 50 cases of twin pregnancies,and the fluorescence polymerase chain reaction and karyotype analysis were obtained. Zygosity was also determined with DNA extracted from amniocytes with polymorphic microsatellite markers in dichorionic-diamniotic twins(DCDA). Results:50 pregnant women with twin pregnancies have received amniocentesis for the different indications,the success rate of first puncture was 100% in monochorionic-diamniotic twins(MCDA)and 97.4% in DCDA twins. According to STR analysis,the amniotic fluid samples of both two fetuses were obtained in 35 pairs of DCDA twins,only the same fetal amniotic fluid was obtained in 2 pairs of DCDA twins. No miscarriage occurred 14 days after amniocentesis. Amniotic fluid QF-PCR and karyotype analysis were normal. Conclusion:Amniocentesis is a relatively safe and reliable method for prenatal diagnosis of twin pregnancies. Appropriate choice of indication and determination of zygosity by the STR site analysis,it is beneficial for the effective operation of amniocentesis in twin pregnancies.
Objective:To study the clinical application of amniocentesis in the prenatal diagnosis of twin pregnancy. Methods: Amniocentesis was performed on 50 cases of twin pregnancies,and the fluorescence polymerase chain reaction and karyotype analysis were obtained. Zygosity was also determined with DNA extracted from amniocytes with polymorphic microsatellite markers in dichorionic-diamniotic twins(DCDA). Results:50 pregnant women with twin pregnancies have received amniocentesis for the different indications,the success rate of first puncture was 100% in monochorionic-diamniotic twins(MCDA)and 97.4% in DCDA twins. According to STR analysis,the amniotic fluid samples of both two fetuses were obtained in 35 pairs of DCDA twins,only the same fetal amniotic fluid was obtained in 2 pairs of DCDA twins. No miscarriage occurred 14 days after amniocentesis. Amniotic fluid QF-PCR and karyotype analysis were normal. Conclusion:Amniocentesis is a relatively safe and reliable method for prenatal diagnosis of twin pregnancies. Appropriate choice of indication and determination of zygosity by the STR site analysis,it is beneficial for the effective operation of amniocentesis in twin pregnancies.
引文
[1]乐杰.妇产科学[M].第7版.北京:人民卫生出版社,2008.174-180.
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[3]Naylor CS,Tewari K,Asrat T.Trisomy 13 in one fetus from a twin gestation after intracytoplasmic sperm injection:a case report[J].J Reprod Med,2001,46:497-498.
[4]Cuckle H.Down's syndrome screening in twins[J].J Med Screen,1998,5(1):3-4.
[5]Audibert F,Gagnon A,Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada,et al.Prenatal screening for and diagnosis of aneuploidy in twin pregnancies[J].J Obstet Gynaecol Can,2011,33(7):754-767.
[6]Sarno L,Revello R,Hanson E,et al.Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy[J].Ultrasound Obstet Gynecol,2016,47(6):705-711.
[7]Hanprasertpong T,Kor-anantakul O,Prasartwanakit V,Leetanaporn R,et al.Outcome of second trimester amniocentesis in twin pregnancies at Songklanagarind Hospital[J].J Med Assoc Thai,Nov 2008,91(11):1639-43.
[8]Supadilokluck S,Tongprasert F,Tongsong T,Wanapirak C,et al.Amniocentesis in twin pregnancies[J].Arch Gynecol Obstet,2009,Aug,280(2):207-9.Epub 2008 Dec 27.
[9]李胜利主编.胎儿畸形产前超声诊断学[M].北京:人民军医出版社,2011.5:492.
[10]李晓洲,史云芳,琚端,等.孕中期羊水染色体检查双胎23对[J].中华医学遗传学杂志,2013,30(6):759-760.
[2]Wapner RJ.Genetic diagnosis in multiple pregnancies[J].Semin Perinatol,1995,19:351-362.
[3]Naylor CS,Tewari K,Asrat T.Trisomy 13 in one fetus from a twin gestation after intracytoplasmic sperm injection:a case report[J].J Reprod Med,2001,46:497-498.
[4]Cuckle H.Down's syndrome screening in twins[J].J Med Screen,1998,5(1):3-4.
[5]Audibert F,Gagnon A,Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada,et al.Prenatal screening for and diagnosis of aneuploidy in twin pregnancies[J].J Obstet Gynaecol Can,2011,33(7):754-767.
[6]Sarno L,Revello R,Hanson E,et al.Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy[J].Ultrasound Obstet Gynecol,2016,47(6):705-711.
[7]Hanprasertpong T,Kor-anantakul O,Prasartwanakit V,Leetanaporn R,et al.Outcome of second trimester amniocentesis in twin pregnancies at Songklanagarind Hospital[J].J Med Assoc Thai,Nov 2008,91(11):1639-43.
[8]Supadilokluck S,Tongprasert F,Tongsong T,Wanapirak C,et al.Amniocentesis in twin pregnancies[J].Arch Gynecol Obstet,2009,Aug,280(2):207-9.Epub 2008 Dec 27.
[9]李胜利主编.胎儿畸形产前超声诊断学[M].北京:人民军医出版社,2011.5:492.
[10]李晓洲,史云芳,琚端,等.孕中期羊水染色体检查双胎23对[J].中华医学遗传学杂志,2013,30(6):759-760.