First trimester fetal karyotyping: one thousand diagnoses

G. Simoni, G. Gimelli, Cristina Cuoco, Lorenza Romitti, G. Terzoli, Silvana Guerneri, Franca Rossella, Luisa Pescetto, Annalisa Pezzolo, Simona Porta, B. Brambati, E. Porro, M. Fraccaro

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)203-209
Number of pages7
JournalHuman Genetics
Volume72
Issue number3
DOIs
Publication statusPublished - Mar 1986

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Karyotyping
First Pregnancy Trimester
Maternal Age
Chromosome Aberrations
Abnormal Karyotype
Incidence
Karyotype
Pregnancy
Chorionic Villi
Trisomy
Cytogenetics
Fetus
Parents
Parturition

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Simoni, G., Gimelli, G., Cuoco, C., Romitti, L., Terzoli, G., Guerneri, S., ... Fraccaro, M. (1986). First trimester fetal karyotyping: one thousand diagnoses. Human Genetics, 72(3), 203-209. https://doi.org/10.1007/BF00291878

First trimester fetal karyotyping : one thousand diagnoses. / Simoni, G.; Gimelli, G.; Cuoco, Cristina; Romitti, Lorenza; Terzoli, G.; Guerneri, Silvana; Rossella, Franca; Pescetto, Luisa; Pezzolo, Annalisa; Porta, Simona; Brambati, B.; Porro, E.; Fraccaro, M.

In: Human Genetics, Vol. 72, No. 3, 03.1986, p. 203-209.

Research output: Contribution to journalArticle

Simoni, G, Gimelli, G, Cuoco, C, Romitti, 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', Human Genetics, vol. 72, no. 3, pp. 203-209. https://doi.org/10.1007/BF00291878
Simoni G, Gimelli G, Cuoco C, Romitti L, Terzoli G, Guerneri S et al. First trimester fetal karyotyping: one thousand diagnoses. Human Genetics. 1986 Mar;72(3):203-209. https://doi.org/10.1007/BF00291878
Simoni, G. ; Gimelli, G. ; Cuoco, Cristina ; Romitti, Lorenza ; Terzoli, G. ; Guerneri, Silvana ; Rossella, Franca ; Pescetto, Luisa ; Pezzolo, Annalisa ; Porta, Simona ; Brambati, B. ; Porro, E. ; Fraccaro, M. / First trimester fetal karyotyping : one thousand diagnoses. In: Human Genetics. 1986 ; Vol. 72, No. 3. pp. 203-209.
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