태아 기형 산전 진단의 최신 동향 = Recent Trends in Prenatal Diagnosis of Fetal Malformations

다국어 초록 (Multilingual Abstract)

The frequency of fetal malformations accounts for around 3~5% and evaluation of the health

of the fetus and screening for fetal malformations has become an important part of prenatal

care. Fetal malformations can be classified into structural and chromosomal abnormalities.

Improvements in prenatal diagnosis have allowed identification of malformations in fetuses

during the first and second trimesters of pregnancy. In prenatal diagnosis, both screening and

diagnostic procedures are included. Screening tests include maternal serum aneuploidy

screening tests, which are double marker test, triple test, and quadruple test. Recently, first

trimester combined ultrasound-biochemical screening and integrated screening were introduced

and provided higher detection rates of chromosomal anomalies (ex. Down syndrome). Diagnostic

tests are usually performed when screening results are positive and they include

chorionic villus sampling, amniocentesis, and percutaneous fetal blood sampling. With highresolution

ultrasound equipment, it is now possible to diagnose most structural abnormalities

prenatally. On top of that, recent advances in 3D/4D ultrasound have allowed better

understanding of fetal anatomy. However, when ultrasound is equivocal, fetal MRI also can be a

useful adjuvant in evaluating fetal structural anomalies. Advances in prenatal diagnostic testing

have resulted in tremendous benefits to patients and challenges to healthcare providers and new

approaches to education and counseling are needed to assure that all patients receive a

complete and balanced review of their prenatal diagnostic testing options.

This article provides an overview of various screening and diagnostic methods for prenatal

diagnosis of fetal malformations.

참고문헌 (Reference)

1 Gonçalve LF, "What does 2- dimensional imaging add to 3-and 4-dimensional obstetric ultrasonography?" 25 : 691-699, 2006

2 Gonçalves LF, "Three-and 4- dimensional ultrasound in obstetric practice: does it help?" 24 : 1599-1624, 2005

3 Yeo L, "The use of genetic sonography to reduce the need for amniocentesis in women at high-risk for Down syndrome" 27 : 152-159, 2003

4 Campbell S, "The prenatal diagnosis of fetal structural anomalies by ultrasound" 10 : 475-506, 1983

5 Van Lith JM, "Secondtrimester maternal serum immunoreactive inhibin as a marker for fetal Down’s syndrome" 12 : 801-806, 1992

6 Sponcer K, "Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum bioche-mistry in a onestep clinic: a review three years prospec-tive experience" 110 : 281-286, 2003

7 Pitkin RM, "Screening and detection of congenital malformation" 164 : 1045-1048, 1991

8 Wald NJ, "Prenatal screening for Down’s syndrome using inhibin-A as a serum marker" 16 : 143-153, 1996

9 Hill LM, "Prenatal detection of congenital malformations by ultrasonography" 151 : 44-50, 1985

10 Uma M, "Prenatal Imaging : Ultrasonography and Magnetic Resonance Imaging. American College of Obstetricans and Gynecologists" 112 : 145-157, 2008

11 Sabbagha RE, "Predictive value, sensitivity, and specificity of ultrasonic targeted imaging for fetal anomalies in gravid women at high risk for birth defects" 152 : 822-827, 1985

12 Korean society of Obstetrics and Gynecology, "Obstetrics. 4th ed" Koonja Publishing 193-197, 2007

13 Cicero S, "Maternal serum biochemistry at 11-13+6 weeks in relation to the presence or absence of the fetal nasal bone on ultrasonography in chromosomally abnormal fetuses: an updated analysis of integrated ultrasound and biochemical screening" 25 : 977-983, 2005

14 Benacerraf BR, "Identification of second trimester fetuses with autosomal trisomy by use of a sonographic scoring index" 193 : 135-140, 1994

15 Fergal D. Malone, "First- and second-trimester evaluation of risk (faster) trial: principal results of the NICHD multicenter Down syndrome screening study" 189 (189): 79-, 2003

16 Levine D, "Fetal central nervous system anomalies: MR imaging augments sonographic diagnosis" 204 : 635-642, 1997

17 Wax JR, "Efficacy of community-based second trimester genetic ultrasonography in detecting the chromosomally abnormal fetus" 19 : 689-694, 2000

18 Ewigman BG, "Effect of prenatal ultrasound screening on perinatal outcome" 329 : 821-827, 1993

19 "Diagnostic ultrasound imaging in pregnancy National Institutes of Health Consensus Development Conference Statement"

20 Filly RA, "Detection of fetal central nervous system anomalies: A practical level of effort for a routine sonogram" 172 : 309-311, 1989

21 Biggio JR, "An outcome analysis of five prenatal screening strategies for trisomy 21 in women younger than 35 years" 190 : 721-729, 2004

22 Nyberg DA, "Age-adjusted ultrasound risk assessment for fetal Down’s syndrome during the second trimester: Description of the method and analysis of 142 cases" 12 : 8-14, 1998

23 Vintzileos AM, "Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography" 17 : 1639-1640, 1995

24 Manchester DK, "Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies" 8 : 109-117, 1988

25 Cicero S, "Absence of nasal bone in fetuses with trisomy 21 at 11~14 weeks of gestation: an observational study" 358 : 1665-1667, 2001