Prenatal diagnosis - Principles of diagnostic procedures and genetic counseling

Folia Histochemica et Cytobiologica

Volumn 45, Issue SUPPL. 1, 2007, Pages 11-16

  Agnieszka, Stembalska ^a   Ślȩzak, Ryszard ^a   Pesz, Karolina ^a   Gil, Justyna ^a   Sa̧siadek, Maria M ^a  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

Author keywords

Prenatal diagnosis; Prenatal genetic counseling; Prenatal rapid testing; Prenatal screening

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; CHORION VILLUS SAMPLING; CONFERENCE PAPER; CONGENITAL MALFORMATION; CORDOCENTESIS; DECISION MAKING; DISEASE SEVERITY; DNA ISOLATION; DOPPLER ECHOGRAPHY; ECHOGRAPHY; FETUS CELL; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; KARYOTYPE; MATERNAL BLOOD; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; SECOND TRIMESTER PREGNANCY; SPONTANEOUS ABORTION;

EID: 44949209472     PISSN: 02398508     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (33)

1. Bozzette M. Recent advances in prenatal screening and diagnosis of genetic disorders. AACN Clin Issues. 2002;13:501-510.
2. Budorick NE, O'Boyle MK. Prenatal diagnosis for detection of aneuploidy: the options. Radiol Clin North Am. 2003;41:695-708.
3. Stembalska A, Ślȩzak R, Sa̧siadek MM. Badania prenatalne. Fam Med Prim Care Rev. 2005;7:18-24.
4. Kurjak A, Miskovic B, Andonotopo W, Stanojevic M, Azumendi G, Vrcic H. How useful is 3D and 4D ultrasound in perinatal medicine? J Perinat Med. 2007;35(1):10-27.
5. Sklansky M, Miller D, Devore G et al. Prenatal screening for congenital heart disease using real-time three-dimensional echocardiography and a novel 'sweep volume' acquisition technique. Ultrasound Obstet Gynecol. 2005; 25:435-443.
6. Brown SD, Estroff JA, Barnewolt CE. Fetal MRI. Appl Radiol. 2004;33(2):9-25.
7. Spencer K, Spencer CE, Power M et al. Screening for chromosomal abnormalities In the first trimester using ultrasound and maternal serum biochemistry In a one-stop clinic: a review of three years prospective experience. BJOG 2003;110:281-286.
8. Laigaard J, Sř rensen T, Fröhlich C et al. ADAM12: a novel first-trimester maternal serum marker for Down syndrome. Prenat Diagn. 2003;23(13):1086-1091.
9. Laigaard J, Christiansen M, Fröhlich C, Pedersen BN, Ottesen B, Wewer UM. The level of ADAM12-S in maternal serum is an early first-trimester marker of fetal trisomy 18. Prenat Diagn. 2005;25(1):45-46.
10. Cowans NJ, Spencer K. First-trimester ADAM12 and PAPP-A as markers for intrauterine fetal growth restriction through their roles in the insulin-like growth factor system. Prenat Diagn. 2007;27(3):264-271.
11. Hafner E, Stangl G, Rosen A et al. Influence of cigarette-smoking on the result of the triple test. Gynecol Obstet Invest. 1999;47:188-190.
12. Huderer-Duric K, Skrablin S, Kuvacic I et al. The triple-marker test In predicting fetal aneuploidy: a compromise between sensitivity and specificity. Eur J Obstet Gynecol Reprod Biol. 2000;881:49-55.
13. Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villous sampling for prenatal diagnosis. Cochrame Database Sts Rev. 2003;3:CD003252.
14. Preis K, Ciach K, Swiatkowska-Freund M. The risk of complications of diagnostic and therapeutic cordocentesis. Gin Pol. 2004;75(10):765-769.
15. Eisenberg B, Wapner RJ. Clinical procedures in prenatal diagnosis. Best Pract Res Clin Obstet Gynecol. 2002;16:611-627.
16. Lazarus E. What's new in first trimester ultrasoun. Radiol Clin North Am. 2003;41:663-679.
17. Tan TY, Yeo GS. Advances in imaging in prenatal diagnosis and fetal therapy. Ann Acad Med Singapure. 2003;32:289-293.
18. Donnenfeld AE, Lamb AN. Cytogenetics and molecular cytogenetics in prenatal diagnosis. Clin Lab Med. 2003;232:457-480.
19. Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA. 2001;285:1044-1055.
20. Bocian E. Diagnostyka cytogenetyczna chorob genetycznych kryteria i zasady procedury diagnostycznej oraz systemu kontroli jakości badań. Diag Lab. 2001;37:13-43.
21. Caine A, Maltby AE, Parkin CA et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18 and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet. 2005;366:123-128.
22. Bocian E, Jakubów-Durska K, Mazurczak T. Retrospektywna analiza 1043 wyników prenatalnych badań cytogenetycznych w kontekście przydatności diagnostycznej FISH interfazowej. Gin Pol. 2001;72:43-49.
23. Tepperberg J, Pettenati MJ, Rao PN et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn. 2001;21:293-301.
24. Weremowicz S, Sandstrom DJ, Morton CC et al. Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases. Prenat Diagn. 2001;21:262-269.
25. Liehr T, Ziegler M. Rapid prenatal diagnostics in the interphase nucleus: procedure and cut-off rates. J Histochem Cytochem. 2005;53:289-291.
26. Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K. Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative Fluorescence-PCR (QF-PCR). J Histochem Cytochem. 2005;53(3):285-288.
27. Ulmer R, Pfeiffer RA, Kollert A, Beinder E. Diagnosis of aneuploidy with fluorescence in situ hybridization (FISH); value in pregnancies with increased risk for chromosome aberrations. Geburtshilfe Neonatol. 2000;204:1-7.
28. Constantinou M, Kaluzewski B. Wykorzystanie techniki FISH w diagnostyce aberracji chromosomowych trudnych do zidentyfikowania za pomoca̧ klasycznych technik cytogenetycznych. Diag Lab. 2001;37:77-85.
29. Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KHA. Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet. 2003;40:907-912.
30. Rickman L, Fiegler H, Shaw-Smith C et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet. 2006;43:353-361.
31. Witters I, Devriendt K, Legius E et al. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn. 2002;22:29-33.
32. Lueng WC, TaoTT. Rapid aneuploidy testing, traditional karyotyping, or both? Lancet. 2005;366:97-98.
33. Wyandt HE, Tonk VS, Huang XL et al. Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis. Fetal Diagn Ther 2006;1:235-240.