Discrepancies in Cytogenetic Findings in Chorionic Villi

References

• Kazy Z, Rosovsky I S, Bakharev V A. Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders. Prenat Diagn 1982; 2: 39–45
   Web of Science ®Google Scholar
• Old J M, Ward R HT, Petrou M, Karagozlu F, Modell B, Weatherall D J. First trimester fetal diagnosis for haemoglobinopathies: Three cases. Lancet 1982; ii: 1413–1416
   Google Scholar
• Perry T B, Vekemans M JJ, Lipman A, Hamilton E F, Fournier P JR. Chorionic villi sampling: Clinical experience, immediate complications and patient attitudes. Am J Obstet Gynecol 1985; 151: 161–166
   Google Scholar
• Rhoads G G, Jackson L G, Schlesselman S E, De La Cruz F F, Desnick R J, Golbus M S, Ledbetter D H, Lubs H A, Mahoney M J, Pergament E, Simpson J L, Carpenter R J, Elias S, Ginsberg N A, Goldberg J D, Hobbins J C, Lynch L, Shiono P H, Wapner R J, Zachary J M. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 1989; 320: 609–617
   PubMed Web of Science ®Google Scholar
• Vejerslev L O, Mikkelsen M. The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987. Prenat Diagn 1989; 9: 575–588
   Google Scholar
• Schwinger E, Seidl E, Klink F, Rehder H. Chromosome mosaicism of the placenta—A cause of developmental failure of the fetus. Prenat Diagn 1989; 9: 639–647
   Google Scholar
• Kalousek D K. The effect of confined chromosomal mosaicism on the development of the human aneuploid conceptus. Birth Defects 1993; 29: 39–51
   Google Scholar
• Kalousek D K, Peebles P HN, Olson S B, Barrett I J, Dorfmann A, Black S H, Shulman J D, Wilson R D. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn 1991; 11: 743–750
   PubMed Web of Science ®Google Scholar
• Pittalis M C, Dalpra L, Torricelli F, Rizzo N, Nocera G, Cariati E, Santarini L, Tibiletti M G, Agosti S, Bovicelli L, Forabosco A. The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods. Prenat Diagn 1994; 14: 267–278
   PubMed Web of Science ®Google Scholar
• Roberts E, Duckett D P, Lang G D. Maternal cell contamination in chorionic villus samples assesses by direct preparations and three different culture methods. Prenat Diagn 1988; 8: 635–640
   PubMed Web of Science ®Google Scholar
• Kalousek D K, Dill F J, Pantzar T, McGillivray B C, Yong S L, Wilson R D. Confined chorionic mosaicism in prenatal diagnosis. Hum Genet 1987; 77: 163–167
   PubMed Web of Science ®Google Scholar
• Kalousek D K, Barrett I J, McGillivray B C. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 1989; 44: 338–343
   PubMed Web of Science ®Google Scholar
• Munne S, Weier H UG, Grifo J, Cohen J. Chromosome mosaicism in human embryos. Biol Reprod 1994; 51: 373–379
   PubMed Web of Science ®Google Scholar
• Kalousek D K, Barrett I. Genomic imprinting related to prenatal diagnosis. Prenat Diagn 1994; 14: 1191–1201
   PubMed Web of Science ®Google Scholar
• Mikkelsen M. Cytogenetic findings in first trimester chorionic villi biopsies: A collaborative study. “First Trimester Fetal Diagnosis”, M Fraccaro, G Simoni, B Brambati. Springer-Verlag, Berlin 1985; 109–120
   Google Scholar
• Tharapel A T, Elias S, Shulman L P, Seely L, Emerson D S, Simpson J L. Resorbed cotwin as an explanation for discordant chorionic villus results: Non-mosaic 47, XX, + 16 in villi (direct and culture) with normal (46.XX) amniotic fluid and neonatal blood. Prenat Diagn 1989; 9: 467–472
   PubMed Web of Science ®Google Scholar
• Hashish A F, Monk N A, Lovell-Smith M PF, Bardwell L M, Fiddes T M, Gardner R M. Trisomy 16 detected at chorion villus sampling. Prenat Diagn 1989; 9: 427–432
   Google Scholar
• James R M, West J D. A chimaeric animal model for confined placental mosaicism. Hum Genet 1994; 93: 603–604
   Google Scholar
• Wang B BT, Rubin C H, Williams J. Mosaicism in chorionic villus sampling—An analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 1993; 13: 179–190
   PubMed Web of Science ®Google Scholar
• Simoni G, Gimelli G, Cuoco C, Terzoli G L, Rossella F, Romitti L, Dalpra L, Nocera G, Tibiletti M G, Tenti P, Fraccaro M. Discordance between prenatal cytogenetic diagnosis after chorionic villus sampling and chromosome constitution of the fetus. “First Trimester Fetal Diagnosis”, M Fraccaro, G Simoni, B Brambati. Springer Verlag, Berlin 1985; 137–143
   Google Scholar
• Hogge W A, Schonberg S A, Golbus M S. Chorionic villus sampling: Experience of the first 1000 cases. Am J Obstet Gynecol 1986; 154: 1249–1252
   PubMed Web of Science ®Google Scholar
• Mikkelsen M, Aymé S. Chromosomal findings in chorionic villi: A collaborative study. “Human Genetics”, F Vogel, K Sperling. Springer Verlag, Berlin 1987; 598–606
   Google Scholar
• Williams J, Wang B, Rubin C, Aiken-Hunting D. Chorionic villus sampling: Experience with 3016 cases performed by a single operator. Obstet Gynecol 1992; 80: 1023–1029
   PubMedGoogle Scholar
• Leschot N J, Wolf H, Verjaal M, Prooijen-Knegt A C, Boer K. Monosomy X found at first trimester CVS: A diagnostic and counselling dilemma. Clin Genet 1990; 37: 236–237
   Google Scholar
• Wolstenholme J, Rooney D E, Davison E V. Confined placental mosaicism, IUGR, and adverse pregnancy outcome—A controlled retrospective UK collaborative survey. Prenat Diagn 1994; 14: 345–361
   Google Scholar
• Eichenbaum S Z, Krmins E J, Fortune D W, Duke J. False-negative finding on chorionic villus sampling. Lancet 1986; 16: 391
   Google Scholar
• Qumsiyeh M B, Tharapel A T, Shulman L P, Simpson J L, Elias S. Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the villi. J Med Genet 1990; 27: 780–781
   Google Scholar
• Johnson A, Wapner R J, Davis G H, Jackson L G. Mosaicism in chorionic villus sampling: An association with poor perinatal outcome. Obstet Gynecol 1990; 75: 573–577
   PubMed Web of Science ®Google Scholar
• Kennerknecht I, Barbi G, Wolf M, Djalali M, Grab D, Terinde R, Vogel W. Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high-risk or very-low-risk pregnancies. Prenat Diagn 1993; 13: 929–944
   Google Scholar
• Delozier-Blanchet C D, Extermann P, Morris M A, Engel E. Choriocentese (PVC): Bilan D'activite et methodes pour resoudre certaines difficultes d'interpretation. J Genet Hum 1988; 37: 61–69
   Google Scholar
• Callen D F, Korban G, Dawson G, Gugasyan L, Krumins E JM, Eichenbaum S, Petrass J, Purvis-Smith S, Smith A, Den Dulk G, Martin N. Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling. Prenat Diagn 1988; 8: 453–460
   Google Scholar
• Canadian Collaborative Study. Multicentre randomised clinical trial of chorion villus sampling and amniocentesis. Lancet 1989; 1: 1–6
   Google Scholar
• Breed A SPM, Mantingh A, Beekhuis J R, Kloosterman M D, Bolscher H T, Anders G JPA. The predictive value of cytogenetic diagnosis after CVS: 1500 cases. Prenat Diagn 1990; 10: 101–110
   Google Scholar
• Young S R, Shipley C F, Wade R V, Cantu M, Waters M, Best R G, Edwards J G, Dennis E J (1991) Chorionic villus sampling and genetics. “Placenta Basic Research for Clinical Applications”. International Conference on Placenta, Tokyo, 1990, H Soma. Karger, Basel, 147–153
   Google Scholar
• Ledbetter D H, Zachary J M, Simpson J L, Golbus M S, Pergament E, Jackson L, Mahoney M J, Desnick R J, Schulman J, Copeland K L, Verlinsky Y, Yangfeng T, Schonberg S A, Babu A, Tharapel A, Dorfman A, Lubstl A, Rhoads G G, Flower E, DeLaCruz F. Cytogenetic results from the United States collaborative study on CVS. Prenat Diagn 1992; 12: 317–345
   PubMed Web of Science ®Google Scholar
• Smidt-Jensen S, Lind A M, Permin M, Zachary J M, Lundsteen C, Philip J. Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies. Prenat Diagn 1993; 13: 723–740
   Google Scholar