Obstetrics & gynecology science

Korean Society of Obstetrics and Gynecology (대한산부인과학회)
권호 표지

Chorionic Villus Sampling: Clinical and Cytogenetic Study of the First 1,058 Cases in YUMC from 1984 to 2004 years

융모막 융모 샘플링 1,058예에 대한 임상 및 세포유전학 연구: 21년(1984-2004년)간의 경험

Yang, Eun-Suk;Yang, Young-Ho;Park, Yong-Won;Kim, Sei-Kwang
양은석;양영호;박용원;김세광

  • Published : 20050700
⟨ Previous Next ⟩

Abstract

Objective: This study was performed to evaluate the feasibility, accuracy and safety of Chorionic Villus Sampling (CVS). Methods: We analyzed the outcome of 1,058 cases of CVS performed for prenatal genetic diagnosis between 7 and 12 weeks of gestation in the outpatient prenatal genetic clinic in Yonsei University Medical Center (1,030 cases by trans-cervical method and 28 cases by trans-abdominal). Fetal Karyotyping was obtained by direct or indirect culture methods using Gimsa and Gimsa-Banding. Results: Advanced maternal age was the most common indication for CVS (34.7%). The overall sampling success rate was 98% (1040/1,058), representing 92.5% in 7 to 8 weeks, 98.0% in 9 to 10 weeks, and 98.9% in 11 to 12 weeks of gestation. The majority of cases (94.6%) required one or two aspirations. Cytogenetic analysis routinely included direct overnight and long-term culture methods, which revealed 27 chromosomal abnormalities (2.6%). Of 1,040 cases in which CVS were successful, 989 delivered normal baby, 23 resulted in fetal loss, 25 had therapeutic termination (24 with chromosome abnormalities and 1 with normal chromosome with huge myoma), and 3 with chromosome abnormalities were loss to follow up. The overall fetal loss rate was 2.2% (23/1,058). No congenital anomalies were found to be related to CVS in these series. Conclusion: When performed by experienced operators and cytogeneticists beyond 9 weeks of gestation, CVS is a feasible, accurate and safe method for prenatal genetic diagnosis capable of replacing genetic amniocentesis.

목적: 융모막 융모 샘플링 (CVS)의 실질성과 정확도 및 안전성을 평가하고자 한다. 연구 방법: 임신 7-12주에 본원 외래에 방문한 산모중 산전유전진단을 받고 융모막 융모 샘플링을 시행한 1,058예의 결과 를 분석하였다. 1,030예에서 초음파 유도하 자궁경부를 통한 방법 (trans-cervical)로 시행하였으며 28예는 초음파 유도하 복벽을 통한 방법 (trans-abdominal)로 하였다. 염색체 핵형분석은 직접분석법과 배양법 (direct or overnight method와 culture method)을 병행 하였으며, Giemsa 염색 및 G-Banding을 사용하였다. 결과: 모성연령 증가가 융모막 융모 샘플링의 가장 흔한 적응증이었으며 (34.7%), 융모막 융모 샘플링의 전체 성공률은 98% (1,040/1,058) 이었으며, 대다수의 경우 95.6% (1,012/1,058)에서 1-2회에서 성공하였으며, 임신 9-12주에서 대부분 98.5% (1,013/1,040)가 시술이 되었다. 염색체 이수성은 2.6% (27예) 이였고, 그중 Down 증후군이 7예이었다. 989예에서 정상아를 분만하였고, 25예 (2.3%)에서 치료적 임신종결을 시행하였다. 전체태아손실률은 2.2% (23/1,058)이었으며, 본 연구에서는 융모막 융모 샘플링과 관련된 선천성 기형은 발견되지 않았다. 결론: 융모막 융모 샘플링은 임신9주 이후에 숙련된 시술자와 세포유전학자들에 의해서 시행될 때 실질적이며,정확하고 안전한 방법으로 양수검사를 대처할 수 있는 산전유전진단법이라고 사료된다.

Keywords

References

  1. Hogge WA, Schonberg SA, Golbus MS, Chorionic villus sampling: Experience of the first 1,000 cases. Am J Obstet Gynecol 1986; 154: 1249-52
  2. Green JE, Dorfmann A, Joncs SL, Bender S, Patton L, Schulman JD. Chorionic villus sampling: Experience with an initial 940 cases. Obstet Gynecol 1988; 71: 208-12
  3. Brambati B, Oldrini A, Ferrazzi E, Lanzani A. Chorionic villus sampling: An analysis of the obstetric expericncc of 1,000 cases. Prcnat Diagn 1987; 7: 157-69 https://doi.org/10.1002/pd.1970070303
  4. Brambati B, Oldrini A, Lanzani A. Transabdominal chorionic villus sampling: A freehand ultrasound-guided technique. Am J Obstet Gynecol 1987; 157: 134-7
  5. Tietung Hospital Department of Obstet and Gynecol: Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy. Chinese Med J 1975; 1: 117-26
  6. Horwell DH, Loeffler FE, Coleman DV. Asscss-ment of a transcervical aspiration technique for chorionic villus biopsy in the first trimester of pregnancy. Br J Obstet Gynaecol 1983; 90: 196-8 https://doi.org/10.1111/j.1471-0528.1983.tb08607.x
  7. Yang YH, Kim MS, Park YW, Kim SK, Cho JS, Jeong MS. Chorionic Villus Sampling: Experience of the First 510 Cases in Korea. Kor J of Obstet & Gynecol 1993; 36: 906-15
  8. Firth HV, Boyd PA, Chamberlain P, Mackenzie IZ, Lindenbaum RH, Huson SM. Severe limb abnormalities after chorionic villus sampling at 56-66 days' gestaion. Lancet 1991; 337: 762-3 https://doi.org/10.1016/0140-6736(91)91374-4
  9. Holzgreve W, Miny P, Chorionic villi sampling with an echogenic catheter: Experiences of the first 500 cases. J Perinat Med 1987; 15: 244-50 https://doi.org/10.1515/jpme.1987.15.3.244
  10. Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, Fraccaro M. Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983; 63: 349-57 https://doi.org/10.1007/BF00274761
  11. Smidt-Jensen S, Hahnemann N, Jensen PKA, Therkelsen AJ. Experience with transabdominal fine needle biopsy from chorionic villi in the first trimester: An alternative to amniocentesis. Clin Genet 1984; 26: 272-4 https://doi.org/10.1111/j.1399-0004.1984.tb04392.x
  12. Hallak M, Johnson MP, Pryde PG, Isada NB, Zador IE, Evans MI. Chorionic villus sampling: Transabdominal versus transcervical approach in more than 4,000 cases. Obstet Gynecol 1992; 80: 349-52
  13. Elias S. Simpson JL, Shulman LP, Emerson D, Tharapel A, Seely L. Transabdominal chorionic villus sampling for first-trimester prenatal diagnosis. Am J Obstet Gynecol 1989; 160: 879-86 https://doi.org/10.1016/0002-9378(89)90304-9
  14. Szabo J, Hcrczeg J, Thurzo L, Szemere G. Karyotyping from uncultured human trophoblast in the first trimester of prcgnancy. Obstet Gynecol 1984; 64: 807-10
  15. Simoni G, Brambati B, Danesino C, Terzol GL, Romitti L, Rossella F, Fraccaro M. Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genel 1984; 66: 252-9 https://doi.org/10.1007/BF00286612
  16. Ward RHT,Modell B, PetrouM, Karagozlu F, Douratsos E, Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound. Br Med J 1983; 286: 1542-4 https://doi.org/10.1136/bmj.286.6377.1542
  17. Heim S, Kristoffersson U, Mandahl N, Mineur A, Mitelman F, Edvall H, Gustavii B, Chromosome analysis in 100 cases of first first trimester tro-phoblast sampling. Clin Genet 1985; 27: 451-7 https://doi.org/10.1111/j.1399-0004.1985.tb00230.x
  18. Brambati B, Tului L, Cislaghi C, Alberti E. First 10000 chorionic villus samplings performed on singleton pregnancies by a single operator. Prenat. Diagn 1998; 18: 255-66 https://doi.org/10.1002/(SICI)1097-0223(199803)18:3<255::AID-PD255>3.0.CO;2-C
  19. Brambati B, Simoni G. Diagnosis of fetal tri somy 21 in first trimester. Lancet 1983; I: 586
  20. Yang YH, Yoo HS, Song KS, Kim, DW, Park YW, Kim SK, et al. Hemophillia A: Carrier detection & prenatal diagnosis by a molecular biological methods. Korean J of Obstetrics & Gynecology 1994; 37 (12): 2351-61
  21. Yang YH, Song KS, Kim IK, Cha DH. Rapid polymerase chain reaction analysis of St14 (DXS52) VNTR: Carrier detection of hemophilia A. J. Obstet Gynaecol Res 1997; 23: 399-406
  22. Xuefeng W, Yuanfang L, Zhiguang L, Haiyan C, Xiaojie S, Yishi F, Hongli W. Carrier detection and prenatal diagnosis of hemophilia A.Clin Chem Lab Med 2001; 39: 1204-8 https://doi.org/10.1515/CCLM.2001.191
  23. Chowdhury MR, Tiwari M, Kabra M, Menon PS. Prenatal diagnosis in hemophilia A using factor VIII gene polymorphism--Indian experience. Ann Hematol 2003; 82: 427-30 https://doi.org/10.1007/s00277-003-0670-9
  24. Jahoda MGJ, Vosters ROL, Sachs ES, Galjaard H, Safety of chorionic villus sampling. Lancet 1985; II: 941-2
  25. Gilmore DH, McNay MB. Spontaneous fetal loss rate in early pregnancy. Lancet 1985; 11: 107
  26. Simpson JL, The diaberes in eaily pregnancy prejeci-NICHD: Low fetal loss rate after normal ultrasound at eight weeks gestation; lmplication for chorionic villus sampling. Am J Hum Genet (Suppl) 1984; 35: 197
  27. Rhoads GG, Jackson LG, Schelessleman SE, Cruz FF, Desnick RJ, Golbus Ms, Simpson JL. The safety and efficacy of a chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. New Eng J Med 1989; 320: 609-17 https://doi.org/10.1056/NEJM198903093201001
  28. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group: Multicenter randomized clinical trial of chorionic villus sampling and amniocentesis. Lancet 1989; I: 1-6
  29. Cederholm M, Haglund B & Axelsson O. Maternal complications following amniocentesis and chorionic villus sampling for prenatal karyotyping. Br J Obstet Gynaecol 2003; 110: 392-9 https://doi.org/10.1046/j.1471-0528.2003.02091.x
  30. Mastriacovo P, Cavalcanti DP, Limb reduction defects and choriomc villus sampling. Lancel 1991; 1: 1091
  31. Shepard TH, Kapur RP, Fantel AG, Limb reduction defects and chorionic villus sampling. Lancet 1991; 1: 1092
  32. WHO/EURO Document EUR/ICP/MCH 123(1992). Risk Evaluation of CVS. Copenhagen: WHO Regional Office for Europe
  33. Kulie A, Jackson L, Froster U, Brambati B, Simpson JL, Verlinsky Y, Ginsberg N, Smidt-Jensen S, Zakut H. Chorionic villus sampling safety. Rport of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel-Aviv, Israel, May 21, 1994. Am J Obstet Gynecol 174: 804, 1996