Quantitative fluorescent polymerase chain reaction versus cytogenetics: Risk-related indication and clinical implication of nondetected chromosomal disorders

Fetal Diagnosis and Therapy

Volumn 21, Issue 2, 2006, Pages 217-223

  Kozlowski, P ^a,b   Grund, I ^a   Hickmann, G ^a   Stressig, R ^a   Knippel, A J ^a  

^a Praenatal Medizin und Genetik   (Germany)

^b Graf Adolf Strasse 35 ^*  (Germany)

Author keywords

Anamnestic risk; Clinical significance; Conventional karyotyping; Indication; Prenatal diagnosis; Quantitative fluorescent polymerase chain reaction; Ultrasound

Indexed keywords

ADULT; AGED; AMNIOCENTESIS; ANAMNESIS; ANEUPLOIDY; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CHROMOSOME STRUCTURE; CORRELATION ANALYSIS; CYTOGENETICS; FEMALE; FETUS; FETUS ECHOGRAPHY; GESTATION PERIOD; HUMAN; INTERMETHOD COMPARISON; KARYOTYPE; KARYOTYPING; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION; RISK FACTOR; STRUCTURAL CHROMOSOME ABERRATION; TIME SERIES ANALYSIS; TRISOMY;

AMNIOCENTESIS; CHROMOSOME DISORDERS; CYTOGENETIC ANALYSIS; FEMALE; GERMANY; HUMANS; MALE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PREGNANCY; RISK;

EID: 33344466235     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000089306     Document Type: Article

References (12)

1. Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M: Rapid molecular method for prenatal detection of Down's syndrome. Lancet 1994;343:1197-1198.
2. Verma L, Macdonald F, Leedham P, McConachie M, Dhanjal S, Hulten M: Rapid and simple prenatal DNA diagnosis of Down's syndrome. Lancet 1998;352:9-12.
3. Levett LJ, Liddle S, Meredith R: A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 2001;17:115-118.
4. Locatelli A, Mariani S, Ciriello E, Dalpra L, Villa N, Sala E, Vergani P: Role of FISH on uncultured amniocytes for the diagnosis of aneuploidies in the presence of fetal anomalies. Fetal Diagn Ther 2005;20:1-4.
5. Cirigliano V, Voglino G, Canadas MP, Marongiu A, Ejarque M, Ordonez E, Plaja A, Massobrio M, Todros T, Fuster C, Campogrande M, Egozcue J, Adinolfi M: Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 2004;10:839-846.
6. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM: Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004;12:907-915.
7. Leung WC, Lau ET, Lao TT, Tang MH: Can amnio-polymerase chain reaction alone replace conventional cytogenetic study for women with positive biochemical screening for fetal Down syndrome? Obstet Gynecol 2003;101:856-861.
8. Leung WC, Waters JJ, Chitty L: Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1,589 second-trimester amniocenteses. Prenat Diagn 2004;24:790-795.
9. Ogilvie CM: Prenatal diagnosis for chromosome abnormalities: past, present and future. Pathol Biol (Paris) 2003;51:156-160.
10. Evans MI, Henry GP, Miller WA, Bui TH, Snidjers RJ, Wapner RJ, Miny P, Johnson MP, Peakman D, Johnson A, Nicolaides K, Holzgreve W, Ebrahim SA, Babu R, Jackson L: International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum Reprod 1999;14:1213-1216.
11. Homer J, Bhatt S, Huang B, Thangavelu M: Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH). Prenat Diagn 2003;23:566-571.
12. Nicolini U, Lalatta F, Natacci F, Curcio C, Bui TH: The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration. Hum Reprod Update 2004;10:541-548.