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1 АВАВАКдлАмА дла длама АсАядлАмА АВА АсдлАя & MАядлдлАмАК TА. 4, T. 2, АВ , 2005 fi АУ : Аяapplefi. fiapple АсА» Ас Ам, длappleapple Ас..., Ая: Аяapplefi. fiapple, АВАУ Ас, АсА» Ас Ам длappleapple Ас , : , Fax: fi apple Ав Ав АУ apple apple. АяАУ Ая, - fi АУ 1 2, Авfi appleapple apple- apple 2. А appleapple АУАв Ав АУ apple appleау apple - Ав apple appleауapple apple apple apple Ав АУАв fiapple - appleау,, Авapple- АУ АУ appleapple. Ая appleау АУ АУАв АУ Ав-. apple, АУ fiав Ав. АК applefi АУ, АУАв apple Ав fi, apple Ав АУАв apple Ав fi АУ apple fi Ав. АВАУ Ав: applefi АУ, АУ, Ав, fi, PAPP-A, - - Авapple, afp, appleау, А applefi АУ АУ АУ, АУ, appleау- apple АУ apple apple fiapple АУ АУ-. А АУ fi apple appleау Ав: 1) fi АУ appleау apple apple EАВАВHNIKH MAIEYTIKH & АсYNAIKOАВOАсIKH ETAIPEIA 113

2 MАУАв apple АУ : fiapple. Ая. apple apple Ав Ав apple - fi appleapplefi. АУ appleapple, appleау apple -, apple fi fi Авapple, - Ashkenazi fi fi appleapple fi Tay-Sachs Canavans, apple apple appleау applefi Ая Ая fi -, АУ, fi fi АУ apple, appleав applefi apple АУ apple А apple apple- 0.1% apple - fi fi appleау apple fi applefi АУ - АУ (Kinzler et al., 2002). 2) fi АУ, apple appleауapple АУ applefi АУ АУ apple - apple appleав Ав apple - apple Ав. АК Ав,, - apple apple- АУ (apple Ав). АК - apple, apple, - apple АУ apple apple fi fi fi apple apple appleау applefi apple-, Ав applefi АУ- 6-8 АвАУ applefi (Simpson, 2002). АВfi Авfi АУАв Ав Ав- fi, apple, Ав АУ- apple. appleау АУАв АВ, АяappleАУ. АК Ав, АУ ( applefi appleау) Авapple - Ав Авfi fi 18 20G apple apple- Ав. А fi АУ applefi АвАв. АК appleау Ав applefi apple apple Ав, АвАв, fi 20-21G. Ас, АУ applefi appleapple apple applefi АУ apple 0.5-1%. АВ appleа» fi fi Авfi Down apple 1:800 appleав - applefi applefi АУ Ав appleау fiав Ав apple АУАв АУ apple (screening test). АК fiав fi - АУ Ав (>35 ) appleав fi apple fi 25-30% fi Ав Down, fiapple 1, Ав apple apple apple applefi fi АУ (Nikolaides, 2004). А apple Ав АУ, Ав АвАв- appleау, apple apple applefi- apple fi АвАв-. АК applefi appleapple 0.5% appleау fi % (ACOG, 2001). fi fi Ав fi apple applefi Ав АУ fiав АУАв АУ - apple fi 21, apple apple fi apple, applefi- fi АУ (Simpson, 2002; Nikolaides, 2003), apple fi applefi applefi apple- fi apple fi АвАв. Аяfi - fi АУ appleау АУ apple 15 appleapple 1 Ав Down (Nikolaides, 2003). fi АУ 2 appleау - fi Ав apple - (15-18 АвАв) apple АУ fi: appleapple apple appleау fi, АвАв Ав apple - Авfi Down apple АУ АУ fi, fi fiapple apple- appleау. appleapple Ав apple apple apple fi- 114

3 АВАВАКдлАмА дла длама АсАядлАмА АВА АсдлАя & MАядлдлАмАК TА. 4, T. 2, АВ , 2005 apple, fi Авapple apple appleapple АУ appleауapple АУ, appleау, 2. fi АУ 1 АК АУ PAPP-A -HCG 1 Ав appleapplefi - fi applefi applefi АУ appleapple АУ Ав apple- fi apple Ав apple Ав- apple appleау appleapple. apple АУ apple apple appleау applefi, (Wappner., 2003) АУАв fi Авfi АУ 2 apple fi АУ 67.2% 5% Ав., АУАв АУ apple -, apple applefi АУ. Ая applefi apple apple Ая- АУ Ав АУ apple Ав appleав (- apple), apple, АУ appleappleав apple АУ- АУ (, apple fi, Ав apple apple apple Ав apple apple, АвАУ АУ, - fi АУ Ав apple ) (Brigatti and Malone, 2004). Ая - fi, Ав Ав Ав - <0.5mm 95% appleapple (Nikolaides, 2004). Авfi А Авfi Ав ( ) fi АУ 2 Ав АУ - apple appleав apple appleау Ав fi Ав Ав Ав- АУ PAPP-A -HCG 1 - (appleapple 90%) apple fi - 4-5% apple (Nikolaides, 2004)., АвАУ-АвАвfi Авfi fi АУ 1 2 Ав apple apple - fi appleау АУ Ав Ая fi АУ 1 fi, Ав apple, АУ appleapplefi АУ- fi Ав fi АУ appleау Ав АУ apple АУ apple 3-4 АвАв АУ Ая -. apple Ав Ая Ав applefi АК Ав apple % appleав apple Ав Ав- fiав Ав. applefi fi fi fi Ав АУ- fi Ав Ав, АУ apple Ав fi fi 1 apple - apple apple apple apple Ав.(Brigatti, 2004) fi fi АК apple 60-70% - Ав Down apple applefi 1 apple fi applefi Ав.(Nikolaide, 2004) fi, apple Ав apple apple - applefi apple fi fi fi, apple, applefi, applefi АУ Ав Down. АсАУ apple- А apple Ав, Ав fi apple applefi fi apple EАВАВHNIKH MAIEYTIKH & АсYNAIKOАВOАсIKH ETAIPEIA 115

4 MАУАв apple АУ : fiapple. Ая. fi, fi apple - fi fi apple- Ав fiapple fi applefi appleав. Ая, apple Ав, Ав fi fi АУ АУ Ав, fiapple, appleapple - - fi apple apple (Stewart, 2004). applefi - fi Ав,, apple- Ав appleауapple apple АУ apple АУ applefi fi applefi - apple applefi applefi АУ Ав fi АУ Ав applefi apple 21. fi apple apple-, apple Авfi- АУ appleау, fiapple - applefi АУ (Emignon et al., 1993; Grandjean et al., 1999), apple apple АУ fi fi АУ fi fi apple applefi Ав apple- АвАУ appleapplefi, (Nikolaides, 1992; Suruss, 2001; Levi, 2002) АК Ав fiав - fi applefi АУ applefi - apple applefi АУ (1:107), apple apple - applefi apple - - Ав applefi АУ - apple АУ - Ав applefi. АК - apple appleав fiав 40-50%, АУ appleау АУ (Bianchi et al., 1999). -apple АК Авapple fi applefi АУ fi - apple appleав applefi АУ apple- Ав apple АУ АУАв fi АУ 35 fi fi appleapple Ав apple fi appleау fi apple Авfi Down АУ (ACOG, 2001). Ая АУАв, fi, АУ АУ fi apple fi fi -, fi 12.9% - applefi АУ apple АУ apple 35 АУ fi (ACOG, 2001). apple, appleау fi АУАв apple apple Ав Ав Ав appleау. АК АУ 2 - (applefi ) АУАв АУ appleав АУ- fi applefi 65% appleapple, АУ АУ fi АУ (16-18 АвАв) apple fi Ав apple fi appleау, appleapple- apple fiapple, apple appleapple АвАв apple. АК apple Ав appleapple apple fiав АУ apple apple apple 1 АУ appleау apple- АУ Ая fi АУ 1 apple %. applefi - appleау АУ Ав apple- Ав apple appleауapple apple fi apple АУ apple - fi fi fi fi АУ 1 apple АУ apple appleау, fi, Ав. АУ, fi appleав- apple Ав АУ applefi Ав-, АвАв, fi applefi fiapple apple 30% applefi apple 20% (Nikolaides, 2004). А fi Авfi PAPP- A, 1, -hcg, FP fi 2 (Integrated Test) - 94% apple fi - АУ fi fi appleау АУ 3-4 АвАв АУ Ая-, fi АвАв АУ - АУ Ав apple apple АУ apple (apple.. applefi АУ ). 116

5 АВАВАКдлАмА дла длама АсАядлАмА АВА АсдлАя & MАядлдлАмАК TА. 4, T. 2, АВ , : АмАв apple 21, (1/ fi ) АУ (appleappleау applefi Nikolaides, 2004) Ам (АвАв) Ам (АвАв) Ам (АвАв) АУ, applefi АУ 2 - apple appleау АУ apple АУ Ав appleавау appleapple appleа» fi applefi fi, fi, - appleау appleау. fi fi Авfi apple- Ав fi. Methods of prenatal diagnosis for chromosomal abnormalities: The disadvantages A. Mamopoulos 3 rd Dept.OB-GYN,Aristotle University of Thessaloniki, Thessaloniki, Greece Correspondence: A. Mamopoulos 133 Tsimiski str., Thessaloniki, Greece Tel.: , Fax: Summary The different methods of Prenatal Screening for Chromosomal abnormalities are presented in this article. The characteristics as well as the disadvantages of Increased Nuchal Translucency, of the "Triple" or the "Double" Biochemical screening tests but also of their combinations are mentioned. All these methods are used in order to detect the highrisk cases among the general population that would have been missed if maternal age was used as the sole criterion. Amniocentesis or Chorionic Villus Sampling should be offered in all these cases since these are the only definitive diagnostic methods that are used today. The fetal blood sampling, another EАВАВHNIKH MAIEYTIKH & АсYNAIKOАВOАсIKH ETAIPEIA 117

6 MАУАв apple АУ : fiapple. Ая. alternative invasive method is used in some cases. The isolation and examination of fetal cells from the maternal circulation appears to be the ideal method since it combines screening and diagnostic characteristics but its widespread use in the general population is not possible yet. Key words: Prenatal Diagnosis, nuchal translucency, biochemical test of 1st, 2nd trimester, amniocentesis, chorionic villus sampling, ultrasonography ACOG Practice Bulletin (2001) Prenatal Diagnosis of fetal chromosomal abnormalities. No 27. Bianchi, D.W., Simpson, J.L., Jackson, L.G. et al. (1999) Fetal cells in maternal blood: NIFTY Clinical trial interim analysis. NICHD fetal cell study (NIFTY) group. Prenat. Diagn. 19, Briggati, K.W. and Malone, F.D. (2004) First trimester screening for aneuploidy. Obstet. Gynecol. Clin. N. Am. 31, Emignon, B.G., Crane, J.P., Frigoletto, F.D. et al. (1993) Effect of prenatal ultrasound screening on perinatal outcome. N. Engl. J. Med. 329, Grandjean, H., Larroque, D. and Levi, S. (1999) The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am. J. Obstet. Gynecol. 181, Kinzler, W.L., Morrell, K. and Vintzileos, A. (2002) Variables that underlie cost efficacy of prenatal screening. Obstet. Gynecol. Clin. N. Am. 29, Levi, S. (2002) Ultrasound in prenatal diagnosis: polemics around routine ultrasound screening for second trimester fetal malformations. Prenat. Diagn. 22, Nikolaides, K.H., Snijders, R.D., Gosden, C. M. et al. (1992) Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet, 304, Nikolaides, K.H. (2003) Screening for chromosomal defects. Ultrasound Obstet. Gynecol. 21, Nikolaides, K.H. (2004) Nuchal Translucency and other first trimester sonographic markers of chromosomal abnormalities. Am. J. Obstet. Gynecol. 191, Simpson, J.L. (2002) Genetic counseling and prenatal diagnosis. In: Gabbe, S., Niebyl, J. and Simpson, J. (eds) Obstetrics: Normal and Problem pregnancies. Churchill-Livingstone, pp Stewart, T.S. (2004) Screening for aneuploidy: the genetic sonogram. Obstet. Gynecol. Clin. N. Am. 31, Ultrasound Screening Study (SURUSS) (2001) J. Med. Screen. 10, Wappner, R., Thom, E., Simpson, J.L. et al. (2003) First trimester screening for trisomies 21 and 18. N. Engl. J. Med. 349, АмАяАяАКАм 11/5/2005 Асдл АяА АмАК 23/5/

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