Prenatal diagnosis of cystic fibrosis: A case of twin pregnancy diagnosis and a review of 5 years' experience

Giuseppe Castaldo, Pasquale Martinelli, Concetta Massa, Antonella Fuccio, Michela Grosso, Emilia Rippa, Dario Paladini, Francesco Salvatore

Research output: Contribution to journalArticlepeer-review


We performed prenatal diagnoses for cystic fibrosis in 32 high risk (1:4) couples (including a dizygotic pregnancy). Chorionic villi sampling did not cause abortion or fetal malformation in any case. The preliminary analysis of 9 short tandem repeats always excluded maternal contamination of the DNA extracted from chorionic villi and confirmed paternity. Twenty-two prenatal diagnoses were made by direct analysis of the mutations. In seven cases diagnosis was made by the analysis of intragenic polymorphisms; in three cases, we analyzed two extragenic polymorphisms. The prenatal diagnosis (including genetic counselling) was completed within 24 h from the sampling. Seven prenatal diagnoses revealed an affected fetus; all couples opted for therapeutic abortion. In 17 cases the fetus was heterozygote, and in seven cases it was non carrier of mutated alleles. In the twin pregnancy, mutations were ΔF508/N1303K. Direct analysis of the DNA extracted from the two independent samples of chorionic villi revealed one fetus non carrier of mutated alleles and the other a carrier of the N1303K mutation. Analysis of the HPRT locus predicted both the fetuses as males. Furthermore, the genotype of each fetus was defined after birth. The prenatal diagnosis with chorionic villi sampling plays a key role in the prevention of cystic fibrosis. The laboratories must be equipped for both the direct analysis of mutations and for the analysis of a large number of polymorphisms. The preliminary analysis of short tandem repeats is recommended both to exclude maternal contamination and to confirm parentage. Copyright (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)121-133
Number of pages13
JournalClinica Chimica Acta
Issue number1-2
Publication statusPublished - Aug 2000


  • Cystic fibrosis
  • Molecular analysis
  • Prenatal diagnosis
  • Twin pregnancy

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry


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