Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and Quantitative Fluorescent PCR

Prenatal Diagnosis

Volumn 23, Issue 8, 2003, Pages 629-633

  Cirigliano, Vincenzo ^a,c   Cañadas, Paz ^a   Plaja, Alberto ^b   Ordoñez, Elena ^a   Mediano, Carmen ^b   Sánchez, Angeles ^b   Farrán, Inma ^b  

^a General Lab   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

Aneuploidy; Multiple pregnancies; Prenatal diagnosis; QF PCR; STR

Indexed keywords

AMNIOCENTESIS; AMNION FLUID ANALYSIS; ANALYTIC METHOD; ANEUPLOIDY; ARTICLE; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME NUMBER; CHROMOSOME POLYMORPHISM; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FEMALE; FETUS; FLUORESCENCE ANALYSIS; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MULTIPLE PREGNANCY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RELIABILITY; SCREENING TEST; TANDEM REPEAT; TWIN PREGNANCY; X CHROMOSOME; Y CHROMOSOME; ZYGOSITY;

AMNIOCENTESIS; ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; ELECTROPHORESIS, CAPILLARY; FEMALE; FLUORESCENCE; HUMANS; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY, MULTIPLE; TANDEM REPEAT SEQUENCES; TRIPLETS; TWINS;

INSERTION SEQUENCES;

EID: 0042021913     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.655     Document Type: Article

References (19)

1. Adinolfi M, Pertl B, Sherlock J. 1997a. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn 17: 1299-1311.
2. Adinolfi M, Sherlock J. 1997b. First trimester prenatal diagnosis using transcervical cells: an evaluation. Hum Reprod Update 3: 383-392.
3. Adinolfi M, Sherlock J, Cirigliano V, Pertl B. 2000. Prenatal screening of aneuploidies by quantitative fluorescent PCR. Community Genet 3: 50-60.
4. Buscaglia M, Ghisoni L, Bellotti M, et al. 1995. Genetic amniocentesis in biamniotic twin pregnancies by a single transabdominal insertion of the needle. Prenat Diagn 1: 17-19.
5. Chen CP, Chern SR, Wang W. 2000b. Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies. Hum Reprod 15: 929-934.
6. Cirigliano V, Ejarque M, Canadas MP, et al. 2001b. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod 7: 1001-1006.
7. Cirigliano V, Ejarque M, Fuster C, Adinolfi M. 2002. X chromosome dosage by Quantitative Fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod 8: 1042-1045.
8. Cirigliano V, Lewin P, Szpiro-Tapies S, Fuster C, Adinolfi M. 2001a. Assessment of new markers for the rapid prenatal detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet 65: 421-427.
9. Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M. 1999. Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn 19: 1099-1103.
10. Jeanty P, Shah D, Roussis P. 1990. Single-needle insertion in twin amniocentesis. J Ultrasound Med 9: 511-517.
11. Mann K, Fox SP, Abbs SJ, et al. 2001. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet 358: 1057-1061.
12. Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. 1999a. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J Med Genet 36: 300-303.
13. Pertl B, Pieber D, Lercher-Hartlieb A, et al. 1999b. Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders. Mol Hum Reprod 5: 1176-1179.
14. Pertl B, Sekizawa A, Samura O, Orescovic I, Rahaim PT, Bianchi DW. 2000. Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats. Hum Genet 106: 45-49.
15. Pertl B, Weitgasser U, Kopp S, Kroisel PM, Sherlock J, Adinolfi M. 1996. Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR. Hum Genet 98: 55-59.
16. Sebire NJ, Noble PL, Odibo A, Malligiannis P, Nicolaides KH. 1996. Single uterine entry for genetic amniocentesis in twin pregnancies. Ultrasound Obstet Gynecol 7: 26-31.
17. Sherlock J, Cirigliano V, Petrou M, Tutschek B, Adinolfi M. 1998. Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann Hum Genet 62: 9-23.
18. van Vugt JM, Nieuwint A, van Geijn HP. 1995. Single-needle insertion: an alternative technique for early second-trimester genetic twin amniocentesis. Fetal Diagn Ther 10: 178-181.
19. Verma L, MacDonald F, Leedham P, McConachie M, Dhanjal S, Hulten M. 1998. Rapid and simple prenatal DNA diagnosis of Down's syndrome. Lancet 352: 9-12.