Trisomy 15 CPM: Probable origins, pregnancy outcome and risk of fetal UPD

Prenatal Diagnosis

Volumn 19, Issue 1, 1999, Pages 29-35

  Hahnemann, J M ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Chorionic villus sampling; Confined placental mosaicism; Non disjunction; Trisomy 15; Uniparental disomy

Indexed keywords

AMNIOCENTESIS; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CYTOTROPHOBLAST; FETUS; HUMAN; HUMAN CELL; INHERITANCE; KARYOTYPE; MEIOSIS; MESODERM; PRADER WILLI SYNDROME; PREGNANCY; PRIORITY JOURNAL; SPONTANEOUS ABORTION; TRISOMY; UNIPARENTAL DISOMY;

AMNIOTIC FLUID; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; KARYOTYPING; MOSAICISM; PLACENTA; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; RISK FACTORS; TRISOMY;

EID: 0032932423     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199901)19:1<29::AID-PD462>3.0.CO;2-B     Document Type: Article

References (30)

1. Breed, A.S.P.M., Mantingh, A., Beekhuis, J.R., Kloosterman, M.D., ten Bolscher, H., Anders, G.J.P.A. (1990). The predictive value of cytogenetic diagnosis after CVS: 1500 cases, Prenat. Diagn., 10, 101-110.
2. Callen, D.F., Korban, G., Dawson, G., Gugasyan, L., Krumins, E.J.M., Eichenbaum, S., Petrass, J., PurvisSmith, S., Smith, A., Den Dulk, G., Martin, N. (1988). Extra-embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling. Prenat. Diagn., 8, 453-460.
3. Cassidy, S.B., Lai, L.-W., Erickson, R.P., Magnuson, L., Thomas, E., Gendron, R., Herrmann, J. (1992). Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy, Am. J. Hum. Genet., 51, 701-708.
4. Christian, S.L., Smith, A.C.M., Macha, M., Black, S.H., Elder, F.F.B., Johnson, J.M.-P., Resta, R.G., Surti, U., Suslak, L., Verp, M.S., Ledbetter, D.H. (1996). Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism, Prenat. Diagn., 16, 323-332.
5. DeLozier-Blanchet, C.D., Pellegrini, B., Hahnemann, J.M., Pampallona, S., Vejerslev, L.O. (1996). Birth weight analysis after mosaic/discrepant results on chorionic villus sampling: the EUCROMlC experience, Am. J. Hum. Genet., 59 (suppl. 4), A319 (abstract 1858).
6. DeLozier-Blanchet, C.D., Hahnemann, J.M., Pellegrini, B., Vejerslev, L.O. (1997). Uniparental disomy research after discrepant CVS results: EUCROMIC 1986-1996, Medizinische Genetik, 9(2), abstract S22, 6.
7. Fryburg, J.S., Dimaio, M.S., Yang-Feng, T.L., Mahoney, M.J. (1993). Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling, Prenat. Diagn., 13, 481-494.
8. Goldberg, J.D., Porter, A.E., Golbus, M.S. (1990). Current assessment of fetal losses as a direct consequence of chorionic villus sampling, Am. J. Med. Genet., 35, 174-177.
9. Green, J.E., Dorfmann, A., Jones, S.L., Bender, S., Patton, L., Schulman, J.D. (1988). Chorionic villus sampling: experience with an initial 940 cases, Obstet. Gynecol., 71, 208-212.
10. Hahnemann, J.M., Vejerslev, L.O. (1997a). European collaborative research on mosaicism in CVS - fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy, Am. J. Med. Genet., 70, 179-187.
11. Hahnemann, J.M., Vejerslev, L.O. (1997b). Accuracy of cytogenetic findings on chorionic villus sampling (CVS) - diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992, Prenat. Diagn., 17, 801-820.
12. Hogge, W.A., Schonberg, S.A., Golbus, M.S. (1986). Chorionic villus sampling: experience of the first 1000 cases, Am. J. Obstet. Gynecol., 154, 1249-1252.
13. Kalousek, D.K. (1994). Current topic: confined placental mosaicism and intrauterine fetal development, Placenta, 15, 219-230.
14. Ledbetter, D.H., Zachary, J.M., Simpson, J.L., Golbus, M.S., Pergament, E., Jackson, L., Mahoney, M.J., Desnick, R.J., Shulman, J., Copeland, K.L., Verlinsky, Y., Yang-Feng, T., Schonberg, S.A., Babu, A., Tharapel, A., Dorfmann, A., Lubs, H.A., Rhoads, G.G., Fowler, S.E., De la Cruz, F. (1992). Cytogenetic results from the U.S. Collaborative Study on CVS, Prenat. Diagn., 12, 317-345.
15. Markovic, V.D., Chitayat, D.A., Ritchie, S.M., Chodakowski, B.A., Hutton, E.M. (1996). Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review, Am. J. Med. Genet., 61, 363-370.
16. Miny, P., Hammer, P., Gerlach, B., Tercanli, S., Horst, J., Holzgreve, W., Eiben, B. (1991). Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies, Prenat. Diagn., 11, 581-589.
17. Morichon-Delvallez, N., Mussat, P., Dumez, Y., Vekemans, M. (1993). Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth, Prenat. Diagn., 13, 307-308.
18. Palo, P., Piiroinen, O., Honkonen, E., Lakkala, T., Aula, P. (1994). Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a university centre, Prenat. Diagn., 14, 157-162.
19. Pittalis, M.C., Dalprà, L., Torricelli, F., Rizzo, N., Nocera, G., Cariati, E., Santarini, L., Tibiletti, M.G., Agosti, S., Bovicelli, L., Forabosco, A. (1994). The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods, Prenat. Diagn., 14, 267-278.
20. Purvis-Smith, S.G., Saville, T., Manass, S., Yip, M.Y., Lam Po Tang, P.R.L., Duffy, B., Johnston, H., Leigh, D., McDonald, B. (1992). Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15, Am. J. Hum. Genet., 50, 1348-1350.
21. Roberts, E., Stevenson, K., Cole, T., Redford, H.A., Davison, E.V. (1997). Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomie zygote rescue, Prenat. Diagn., 17, 780-783.
22. Robinson, W.P., Langlois, S., Schuffenhauer, S., Horsthemke, B., Michaelis, R.C., Christian, S., Ledbetter, D.H., Schinzel, A. (1996). Cytogenetic and age-dependent risk factors associated with uniparental disomy 15, Prenat. Diagn., 16, 837-844.
23. Roland, B., Lynch, L., Berkowitz, G., Zinberg, R. (1994). Confined placental mosaicism and pregnancy outcome, Prenat. Diagn., 14, 589-593.
24. Schulze, B., Schlesinger, Ch., Miller, K. (1987). Chromosomal mosaicism confined to chorionic tissue, Prenat. Diagn., 7, 451-453.
25. Simoni, G., Gimelli, G., Cuoco, C., Romitta, L., Terzoli, G., Guerneri, S., Rossella, F., Pescetto, L., Pezzolo, A., Porta, S., Brambati, B., Porro, E., Fraccaro, M. (1986). First trimester fetal karyotyping: one thousand diagnoses, Hum. Genet., 72, 203-209.
26. Teshima, I.E., Kalousek, D.K., Vekemans, M.J.J., Markovic, V., Cox, D.M., Dallaire, L., Gagne, R., Lin, J.C.C., Ray, M., Sergovich, F.R., Uchida, I.A., Wang, H., Tomkins, D.J. (1992). Chromosome mosaicism in CVS and amniocentesis samples, Prenat. Diagn., 12, 443-466.
27. Vejerslev, L.O., Mikkelsen, M. (1989). The European collaborative study on mosaicism in chorionic villus sampling: data from 1986 to 1987, Prenat. Diagn., 9, 575-588.
28. Wang, B.T., Rubin, C.H., Williams, III, J. (1993). Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases, Prenat. Diagn., 13, 179-190.
29. Wang, B.T., Peng, W., Cheng, K.-T., Chiu, S.-F., Ho, W., Khan, Y., Wittman, M., Williams, III, J. (1994). Chorionic villi sampling: laboratory experience with 4,000 consecutive cases, Am. J. Med. Genet., 53, 307-316.
30. Wolstenholme, J. (1996). Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization, Prenat. Diagn., 16, 511-524.