Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells

Human Genetics

Volumn 97, Issue 2, 1996, Pages 150-155

  Massari, A ^b   Novelli, G ^b   Colosimo, A ^b   Sangiuolo, F ^b   Palka, G ^a   Calabrese, G ^a   Camurri, L ^b   Ghirardini, G ^c   Milani, G ^d   Giorlandino, C ^e   Gazzanelli, G ^f   Malatesta, M ^f   Romanini, C ^b   Dallapiccola, B ^b,g  

^a UNIVERSITY OF CHIETI   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c Ospedale Franchini   (Italy)

^d CARLO POMA HOSPITAL   (Italy)

^e Centro Diagnosi Prenatale Artemisia   (Italy)

^f UNIVERSITY OF URBINO   (Italy)

^g CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; SUPEROXIDE DISMUTASE;

ALLELE; ANEUPLOIDY; ARTICLE; CHORION VILLUS; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPING; LEUKOCYTE; MALE; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TRISOMY 21; TROPHOBLAST; UTERINE CERVIX;

ADULT; CERVIX UTERI; DNA; DOWN SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; IRRIGATION; MALE; MUSCULAR ATROPHY, SPINAL; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SEX DETERMINATION (ANALYSIS); SUPEROXIDE DISMUTASE; TROPHOBLASTS; Y CHROMOSOME;

EID: 0029671222     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02265257     Document Type: Article

References (32)

1. Adinolfi M (1992) Breaking the blood barrier. Nature Genet 1: 316-318
2. Adinolfi M, Davies A, Sharif S, Soothill P, Rodeck C (1993) Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing. Lancet 342:403-404
3. Adinolfi M, Soothill P, Rodeck C (1994) A simple alternative to amniocentesis? Prenat Diagn 14:231 :233
4. Adinolfi M, Sherlock J, Soothill P, Rodeck C (1995) Molecular evidence of fetal-derived chromosome 21 markers (STRs) in transcervical samples. Prenat Diagn 15:35-39
5. Baldini A, Ward DC (1991) In situ hybridization banding of human chromosomes with Alu-PCR products: a simultaneous karyotype for gene mapping studies. Genomics 9:770-774
6. Bernini LF, Kanhai HHH, Losekoot M, Giordano P, Harteveld CL (1994) Prenatal diagnosis of homozygous α○-thalassemia by an immunological method. In. Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann N Y Acad Sci 731. pp 193-196
7. Brambati B (1993) Genetic disorders: methods of avoiding the birth of an affected child. Hum Reprod 8:1983-2000
8. Chaouat G, Lochu P, Ville Y, Rhali H, Bedossa P, Selva J, Bergere M, D'Auriol L, Bellet D, Vidault M, Frydman R (1994) Transcervical sampling: a preliminary prospective study. In: Simpson JL. Elias S (eds) Fetal cells in maternal blood. Ann N Y Acad Sci 731, pp 197-200
9. Crony PL, Staggs RA, Porter PT, Killeen AA, McGlennen RC (1994) Quantitative analysis in molecular diagnostics. Hum Pathol 25:572-579
10. Cui K, Warnes GM, Jeffrey R, Matthews CD (1994) Sex determination of preimplantation embryos by human testis-determining-gene amplification. Lancet 343:79-82
11. Deng H, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu Zn superoxide dismutase. Science 261:1047-1051
12. Ewigman BG, Crane JP, Frigoletto FD, LeFevre ML, Bain RP, McNellis D, RADIUS study group (1993) Effect of prenatal ultrasound screening on perinatal outcome. N Engl J Med 329: 821-827
13. Firth HV, Boyd PA, Chamberlain PF, MacKenzie IZ, Morriss-Kay GM, Huson SM (1994) Analysis of limb reduction defects in babies exposed to chorionic villus sampling. Lancet 343:1069-1071
14. Froster UG, Jackson L (1994) Safety of chorionic villus sampling: results from an international registry. Am J Hum Genet 55 (suppl):1A
15. Gaudoin MR (1993) Transcervical flushing and antenatal diagnosis. Lancet 342:989-990
16. Griffith-Jones MD, Miller D, Lilford RJ, Scott J, Bulmer J (1992) Detection of fetal DNA in trans-cervical swabs from first trimester pregnancies by gene amplification: a new route to prenatal diagnosis? Br J Obstet Gynaecol 99:508-511
17. Homes LB (1993) Report of National Institute of Child Health and human development workshop on chorionic villus sampling and limb and other defects, 20 October, 1992. Teratology 48: 7-13
18. Ishai D, Amiel A, Diukman R, Cogan O, Lichtenstein Z, Abramovici H. Fejgin MD (1995) Uterine cavity lavage: adding fish to conventional cytogenetics for embryonic sexing and diagnosing common chromosomal aberrations. Prenat Diagn 15:961-966
19. Lo Cicero S, Capon F, Melchionda S, Gennarelli M, Novelli G, Dallapiccola B (1994) First-trimester prenatal diagnosis of spinal muscular atrophy usine microsatellite markers. Prenat Diagn 14:459-462
20. Mansfield ES (1993) Diagnosis of Down syndrome and other aneupolidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 2:43-50
21. Morris N, Williamson R (1992) Non-invasive first trimester antenatal diagnosis. Br J Obstet Gynaecol 99:446-448
22. Muller F, Aegerter P, Boue A (1993) Prospective maternal serum human chorionic gonadotropin screening for the risk of fetal chromosome anomalies and of subsequent fetal and neonatal deaths. Prenat Diagn 13:29-43
23. n triplet mutation and phenotype manifestations in myotonic dystrophy patients. Biochem Med Metab Biol 50: 85-92
24. Pertl B, Davies A, Soothill P, Rodeck C, Adinolfi M (1994a) Detection of fetal cells in endocervical samples. In Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann N Y Acad Sci 731, pp 186-192
25. Peril B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M (1994b) Rapid molecular method for prenatal detection of Down's syndrome. Lancet 343:1197-1198
26. Shettles LB (1971) Use of the Y chromosome in prenatal sex determination. Nature 230:52
27. Simpson JL, Elias S (1993) Isolating fetal cells from maternal blood. J Am Med Assoc 270:2357-2361
28. Simpson JL, Elias S (1994) Fetal cells in maternal blood: overview and historical perspective. In: Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann N Y Acad Sci 731, pp 1-8
29. Warren R, Sanchez L, Hammond D, McLeod A (1972) Prenatal sex determination from exfoliated cells found in cervical mucosa. Am J Hum Genet 25:81A
30. Zheng Y, Carter NP, Price CM, Colman SM, Milton PJ, Hackett GA, Greaves MF, Ferguson-Smith MA (1993) Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting. J Med Genet 30:1051-1056
31. Zielenski J, Rozmahel R, Bozon D, Kerem BS, Grzelczak Z, Riordan JR, Rommens J, Tsui LC (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214-228
32. Zimmerman R, Huch A, Kratzer A, Bar W (1994) First-trimester sex determination from fetal DNA in cervical swabs. In: Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann NY Acad Sci 731, pp 201-203