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PMID: 6862440 Published · ppublish English Journal Article

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.

Human genetics ·Vol. 63 ·No. 4 ·1983-00-00 ·Pages 349-57

Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, Fraccaro M

Abstract

Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium greatly increased the growth rate); (2) an efficient direct method to obtain high quality metaphases from the Langhans cells of the cytotrophoblast tissue and with which the fetal karyotype is defined within a few hours of chorionic villi sampling; and (3) successful testing for the activity of eight enzymes directly from the villi samples, thus showing that this material is suitable for a rapid, direct diagnosis of the related metabolic diseases.

MeSH Terms
Catheterization/methods Chorionic Villi/enzymology,ultrastructure Culture Techniques Endoscopy Female Fetus/ultrastructure Humans Karyotyping/methods Placenta/ultrastructure Pregnancy Pregnancy Trimester, First Prenatal Diagnosis/methods Specimen Handling Suction Ultrasonography Uterus
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Simoni G
Brambati B
Danesino C
Rossella F
Terzoli G L
Ferrari M
Fraccaro M
References (17)
17 references, click to expand
  1. Chromosome studies in 500 induced abortions.
    Humangenetik. 1975 Aug 29;29(1):9-14 PMID: 1176132
  2. Gene dose effect: regional mapping of human glutathione reductase on chromosome 8.
    Cytogenet Cell Genet. 1976;17(5):282-6 PMID: 1017318
  3. Hereditary anaemias: genetic basis, clinical features, diagnosis, and treatment. WHO working group.
    Bull World Health Organ. 1982;60(5):643-60 PMID: 6983923
  4. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.
    Science. 1980 May 30;208(4447):1042-4 PMID: 7375916
  5. Direct vision chorion biopsy and chromosome-specific DNA probes for determination of fetal sex in first-trimester prenatal diagnosis.
    Lancet. 1982 Dec 25;2(8313):1416-9 PMID: 6129505
  6. Elucidation of an unbalanced chromosome translocation by gene dosage studies.
    Clin Genet. 1982 Jul;22(1):30-6 PMID: 6756711
  7. Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D.
    Hum Genet. 1981;59(3):211-4 PMID: 7327583
  8. Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization.
    Exp Cell Res. 1974 Aug;87(2):444-8 PMID: 4416048
  9. Causes of chromosome anomalies suggested by cytogenetic epidemiology of induced abortions.
    Hum Genet. 1982;60(4):360-4 PMID: 6980818
  10. The contribution of chromosome aberrations to the precision of human gene mapping.
    Cytogenet Cell Genet. 1982;32(1-4):24-42 PMID: 7140366
  11. Chromosomes of mouse embryos and newborn young: preparations from membranes and tail tips.
    Stain Technol. 1972 Sep;47(5):229-34 PMID: 5055540
  12. Origin of mitotic cells of the chorionic villi in direct chromosome analysis.
    Hum Genet. 1978 Oct 31;44(2):191-3 PMID: 569634
  13. Protein measurement with the Folin phenol reagent.
    J Biol Chem. 1951 Nov;193(1):265-75 PMID: 14907713
  14. Human amniotic fluid cells grown in a hormone-supplemented medium: suitability for prenatal diagnosis.
    Proc Natl Acad Sci U S A. 1982 Aug;79(15):4795-9 PMID: 6956891
  15. Trophoblast sampling in early pregnancy. Culture of rapidly dividing cells from immature placental villi.
    Br J Obstet Gynaecol. 1981 Nov;88(11):1081-5 PMID: 7295596
  16. First-trimester fetal diagnosis for haemoglobinopathies: three cases.
    Lancet. 1982 Dec 25;2(8313):1413-6 PMID: 6129504
  17. Fetal sex pridiction by sex chromatin of chorionic villi cells during early pregnancy.
    Chin Med J (Engl). 1975 Mar;1(2):117-26 PMID: 811431
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1983-00-00
Pages
349-57
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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