Summary
Cytogenetic investigations for diagnostic purposes were performed on 1000 first trimester samples of chorionic villi (CVS) in two laboratories using similar techniques. Fetal karyotyping was the primary indication for CVS in 912 and maternal age was the major indication in 758 of them. The risk category “previous child/fetus with chromosome abnormality” included 74 diagnoses, while the category “chromosome abnormality in one of the parents” included 38 diagnoses. Sex determination was the primary indication for CVS in 53 pregnancies. The overall incidence of chromosomal abnormalities was 70, of which 47 were balanced and 23 unbalanced. The results are detailed for each of the risk categories and the incidence of abnormal karyotypes is given for each year of maternal age. In the maternal age of 35–37 years the incidence of unbalanced karyotypes was 2.9% and in the years 38 onwards it was 6.6%. The incidence of unbalanced karyotypes was about 4% when the sampling was made in the weeks 9 to 12 but six abnormal karyotypes were found among 39 CVS performed at the eight week of gestation. The 11 trisomies of the type not found at birth were clustered between the 8th and the 10th week of pregnancy. The technical problems encountered in this experience and the preliminary estimates of fetal loss are discussed.
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Boué J, Dumez Y (1985) Prenatal sex determination. Lancet I:57
Brambati B, Simoni G (1983) Diagnosis of fetal trisomy 21 in first trimester. Lancet I:586
Brambati B, Simoni G, Danesino C, Oldrini A, Ferrazzi E, Romitti L, Terzoli G, Rossella F, Ferrari M, Fraccaro M (1985a) First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet 22:92–99
Brambati B, Oldrini A, Ferrazzi E, Lanzani A (1985b) Chorionic villi sampling: general methodological and clinical approach. In: Fraccaro M, Simoni G, Brambati B (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 4–18
Heim S, Kristoffersson U, Mandahl N, Mineur A, Mitelman F, Edvall H, Gustavii B (1985) Chromosome analysis in 100 cases of first trimester trophoblast sampling. Clin Genet 27:451–457
Jahoda MGS, Voster RPL, Sachs ES, Galjaard H (1985) Safety of chorionic villus sampling. Lancet II:941–942
Mikkelsen M (1985) Cytogenetic findings in first trimester chorionic villi biopsies: a collaborative study. In: Fraccaro M, Simoni G, Brambati G (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 109–120
Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, Fraccaro M (1983) Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 63:349–357
Simoni G, Brambati B, Danesino C, Terzoli GL, Romitti L, Rossella F, Fraccaro M (1984a) Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet 66:252–259
Simoni G, Brambati B, Danesino C, Fraccaro M (1984b) Antenatal sex determination. Lancet I:397
Simoni G, Fraccaro M, Terzoli G, Romitti L, Rossella F, Gimelli G, Cuoco C, Dalprà L, Nocera GF, Tibiletti MG (1985a) Cytogenetics of chorionic villi sampling: technical developments and diagnostic applications. In: Fraccaro M, Simoni G, Brambati B (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 99–108
Simoni G, Gimelli G, Cuoco C, Terzoli GL, Rossella F, Romitti L, Dalprà L, Nocera G, Tibiletti MG, Tenti P, Fraccaro M (1985b) Discordance between prenatal cytogenetic diagnosis after chorionic villi sampling and chromosomal constitution of the fetus. In: Fraccaro M, Simoni G, Brambati B (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 137–143
Terzoli G, Romitti L, Guerneri S, Carrera P, Camurri L (1985) Effect of incubation time and serum concentration on number of mitoses in aspirated villi samples. In: Fraccaro M, Simoni G, Brambati B (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 197–200
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Simoni, G., Gimelli, G., Cuoco, C. et al. First trimester fetal karyotyping: one thousand diagnoses. Hum Genet 72, 203–209 (1986). https://doi.org/10.1007/BF00291878
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DOI: https://doi.org/10.1007/BF00291878