임신 제2삼분기 비정상 초음파 소견의 태아 세염색체 예측률
The predictive value of abnormal ultrasonographic finding for fetal trisomy in the second trimester
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목적: 본 연구의 목적은 태아 세염색체와 관련된 산과적 특징과 비정상 초음파 소견이 세염색체를 어느 정도 예측할 수 있는지 알아보기 위함이다. 연구 방법: 1989년 5월부터 2005년 5월까지 태아 염색체검사를 시행한 3,023명 산모 중 태아 세염색체이상으로 진단된 71명을 대상으로 후향적 조사를 실시하였다. 염색체검사를 시행한 임신부들을 triple test 양성, 고령산모, 태아 비정상 초음파 소견 등 세 가지 검사 적응증에 따라 분류하였고 세염색체의 예측률과 임상적 특징을 비교하였다. 결과: 산전에 진단된 전체 세염색체 중 32예에서 (39%) 비정상 초음파 소견이 있었다. 비정상 초음파 소견의 숫자는 18번 세염색체에서 의미 있게 많았다 (16예, 76%, P=0.001). 세염색체의 경우 태아 초음파에서 이상이 발견되는 시기는 대부분 임신 제2삼분기 후기이다. 태아 비정상 초음파 소견의 21번 세염색체에 대한 양성예측률은 3.0%이고 (고령산모; 1.4%, triple test 양성; 1.7%), 21번과 18번 세염색체에 대한 양성예측률은 6.3% (고령산모; 1.6%, triple test 양성; 1.8%)였다. 결론: 태아 비정상 초음파 소견은 높은 세염색체 양성예측률을 보이므로 실제 초음파검사 과정 중 기형태아 발견 시 이 정보를 유전상담에 활용할 수 있을 것이다. 특히 기형태아에서 18번 세염색체가 많을 수 있어 18번 세염색체의 산전 검진에서 초음파검사가 여전히 중요하다는 것을 주지해야 한다.
Abstract
Objective: The purpose of this study is to evaluate obstetrical characteristics related to fetal trisomies and to survey the predictive value of abnormal second trimester ultrasonographic findings for fetal trisomies. Methods: We reviewed the medical records of 3,023 patients who had fetal karyotyping performed between May 1989 and May 2005, and then retrospectively examined 71 cases of trisomies diagnosed prenatally. All patients were classified into three groups according to indications of fetal karyotyping such as positive triple test result, maternal age older than 35 at delivery, and abnormal ultrasonographic findings and we compared the obstetrical features and positive predictive value of each indication. Results: Thirty two cases (39%) of total trisomies had abnormal ultrasonographic findings. Abnormal ultrasonographic findings were significantly more common (16 cases, 76%, P=0.001) in fetuses with trisomy 18 compared to the other trisomies. Structural anomalies in fetuses with trisomy were usually detected in late second trimester. The positive predictive value of abnormal ultrasonographic findings was 3.0% (elderly woman; 1.4%, positive triple test; 1.7%) in trisomy 21 and 6.3% (elderly woman; 1.6%, positive triple test; 1.8%) in both trisomy 21 and 18. Conclusion: The positive predictive value of abnormal ultrasonographic findings for diagnosis of fetal trisomy is higher than the other indications for fetal karyotyping. In addition, screening of trisomy 18 with an ultrasonography may be still more important because the majority of fetuses with trisomy 18 show various congenital anomalies.
참고문헌 (24)
- Hassold TJ, "Chromosome disorders. In Harrison's principles of internal medicine. 17th ed." (2008), McGraw-Hill
- Hook EB, "Chromosomal abnormality rates of amniocentesis andin live-born infants", JAMA, 249, pp.2034~2038 (1983)
- Merkatz IR, "An association between low maternal serum α -fetoprotein and fetal chromosomal abnormalities", Am J Obstet Gynecol, 148, pp.886~894 (1984)
- Malone FD, "First-trimester or second-trimester screening, or both, for Down's syndrome", N Engl J Med, 353, pp.2001~2011 (2005)
- Nicolaides KH, "Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Review article", Am J Obstet Gynecol, 191, pp.45~67 (2004)
- 문명진, "다운증후군의 산전진단을 위한 초음파를 이용한 선별검사", Korean Journal of Obstetrics and Gynecology, 47(8), pp.1474~1481 (2004), 대한산부인과학회
- Nyberg DA, "Sonographic markers of fetal trisomies: second trimester", J Ultrasound Med, 20, pp.655~674 (2001)
- Little BB, "Risk of chromosomal abnormalities, with emphasis on live-born offspring of young mothers", Am J Hum Genet, 57, pp.1178~1185 (1995)
- American College of Obstetricians and Gynecologists (ACOG), "Screening for fetal chromosomal abnormalities", American College of Obstetricians and Gynecologists (ACOG), ~ (2007)
- Phillips OP, "Maternal serum screening for fetal Down syndrome in women less than 35 years of age using α-fetoprotein, hCG, and unconjugated estriol: a prospective 2-year study", Obstet Gynecol, 80(3), pp.353~358 (1992)
- Malone FD, "First and second trimester evaluation of risk (FASTER) trial: Principal results of the NICHD multicenter Down syndrome screening study", Am J Obstet Gynecol, 189(6), pp.56~ (2003)
- Cuckle H, "Down syndrome screening in the first and", or second trimester: Model predicted performance using meta-analysis parametes, 2005, pp.29, 252~257
- Vintzileos AM, "Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography", Am J Obstet Gynecol, 172, pp.837~844 (1995)
- Benacerraf BR, "A sonographic sign for the detection in the second trimester of the fetus with Down's syndrome", Am J Obstet Gynecol, 151, pp.1078~1079 (1985)
- Yeo L, "Prenatal detection of fetal trisomy 18 through abnormal sonographic features", J Ultrasound Med, 22, pp.581~590 (2003)
- Sohl BD, "Utility of minor ultrasonographic markers in the prediction of abnormal fetal karyotype at a prenatal diagnostic center", Am J Obstet Gynecol, 181, pp.898~903 (1999)
- Park SY, "Frequencies of fetal chromosomal abnormalities at prenatal diagnosis: 10 years experiencies in a single institution", J Korean Med Sci, 16, pp.290~293 (2001)
- Palomaki GE, "Risk-based prenatal screening for trisomy 18 using alpha-fetoprotein, unconjugated oestriol and human chorionic gonadotropin", Prenat Diagn, 15, pp.713~723 (1995)
- Bundy AL, "Antenatal sonographic findings in trisomy 18", J Ultrasound Med, 5, pp.361~364 (1986)
- Benacerraf BR, "Sonographic detection of fetuses with trisomies 13 and 18: accuracy and limitations", Am J Obstet Gynecol, 158, pp.404~409 (1988)
- Hook EB, "Rates of trisomy 18 in livebirths, stillbirths, and at amniocentesis", Birth Defects Orig Artic Ser, 15, pp.81~93 (1979)
- 양영호, "임신중기 양수천자 2000예에 대한 임상 및 세포유전학적 연구", 대한산부회지, 42, pp.65~71 (1999)
- 김현진, "임신중기 양수천자 2942예의 세포유전학적 연구", 대한산부회지, 44, pp.1109~1114 (2001)
- Yagel S, "The role of midtrimester targeted fetal organ screening combined with the “triple test” and maternal age in the diagnosis of trisomy 21: A retrospective study", Am J Obtet Gynecol, 178, pp.40~44 (1998)