Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

Simoni, Giuseppe; Fraccaro, M.; Arslanian, A; Bacchetta, Matthew; Baccichetti, Carlo; Bignone, Franco A.; Cagiano, A.; Carbonara, A. O.; Carozzi, Francesca; Cuoco, Cristina; Bricarelli, Franca Dagna; Dallapiccola, Bruno; Dalprà, Leda; Carbone, Laura D; Ferranti, Giovanna; Filippi, Giorgio; Frateschi, M; Gimelli, Giorgio; Gualtieri, R. M.; Lenzini, Elisabetta; Micara, Giulietta; Migone, Nicola; Montacuti, Vera; Neri, Giovanni; Papa, Rosa; Pecile, Vanna; Rocchi, Mariano; Savin, Elisa; Serra, Angelo; Tenconi, Romano; Terzoli, G. L.; Tibiletti, M. G.

doi:10.1007/bf00281266

Cited by 12 publications

(2 citation statements)

References 4 publications

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“…A number of large diagnostic cytogenetic laboratories have published their experiences of prenatal cytogenetic analysis of amniotic fluid cells [Hsu et al, 1978;Golbus et al, 1979;Crandell et al, 1980;Stengel-Rutkowski, 1980;Webb et al, 1980;Daniel et al, 1982;Simoni et al, 1982;Squire et al, 19821. These series provide a baseline for standards, accuracy, and cost effectiveness of a prenatal diagnosis laboratory.…”

Section: Discussionmentioning

confidence: 99%

The centralized prenatal genetics screening program of New York City III: The first 7,000 cases

Benn

Hsu

Carlson³

et al. 1985

Am. J. Med. Genet.

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The Prenatal Diagnosis Laboratory of New York City (PDL) is a regional program for the prevention of genetic diseases. The administrative aspects of the establishment of the laboratory were described in papers I [Hsu, 1981] and II [Hsu and Benn, 1981] in this series. We now report our experience of the first 7,000 referrals to the laboratory. The laboratory achieved a success rate of 99.5% in obtaining a diagnosis. The frequency with which a repeat amniocentesis was required was 1.9%, usually attributable to inadequate initial amniotic fluid volume or condition. Cases were completed in an average time of 20.82 days. A total of 149 (2.13%) cytogenetic abnormalities were detected. There were 59 nonmosaic autosomal trisomies and 29 sex chromosome abnormalities. The incidence of unbalanced structural abnormalities (0.186%) was much higher than that reported in surveys of newborn infants largely because of the prenatal detection of cases with supernumerary chromosomes. The incidence of balanced structural abnormalities was also considerably higher than that found in surveys of the newborn population, in part because of the detection of subtle familial pericentric inversions of common chromosome regions (inv(Y)(p11q11), inv(2) (p11q13), and inv(1)(p11q13)). The incidence of cases with multiple independent chromosome abnormalities was no higher than expected by chance. A high incidence of mosaicism, pseudomosaicism, and maternal cell contamination was found. Screening for neural tube defects accounted for the detection of a further 16 abnormalities. Nearly all women with severely abnormal fetuses (trisomy 13, 18, 21) elected to terminate their pregnancy whereas only 62% of patients with a prenatally diagnosed sex chromosome abnormality elected to terminate their pregnancies. Full details of follow-up and confirmatory studies for unusual diagnoses are reported. Utilization of prenatal diagnosis in the New York City area has increased sharply since PDL became operational. The laboratory's success illustrates the role of a prenatal diagnosis laboratory that provides a service independent of the patient's financial status. The experience further shows the high degree of acceptance of prenatal diagnosis by individuals at high risk for a child with a genetic disorder.

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Section: Discussionmentioning

confidence: 99%

The centralized prenatal genetics screening program of New York City III: The first 7,000 cases

Benn

Hsu

Carlson³

et al. 1985

Am. J. Med. Genet.

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show abstract

“…Most describe programmes designed to identify chromosome abnormalities in the absence of an alpha-fetoprotein (AFP) screening programme for open neural tube defects (NTD). Some centres perform a fetal karyotype on all patients regardless of the indication for amniocentesis (Golbus et al, 1979;Webb et al, 1980;Brock, 1982;Simoni et al, 1982;Philip et al, 1983;Young et al, 1983); others do not (Polani et al, 1979;Verjaal et al, 1981 ;Daniel et al, 1982;Laurence et al, 1983). Four studies were mainly concerned with investigating the hazards of amniocentesis (MCHD, 1976;Simpson et al, 1976;Galjaard, 1976; Report to the Medical Research Council by their Working Party on Amniocentesis, 1978).…”

Section: Introductionmentioning

confidence: 99%

A survey of diagnostic amniocenteses in Oxford from 1974–1981

et al. 1985

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A survey was conducted of the results of mid-trimester diagnostic amniocenteses in the Oxford Region from 1974 to 1981. The survey used data relating to all 4357 singleton pregnancies in which an amniocentesis was performed during this period. Follow-up information on outcome was obtained in respect of 4284 (98 per cent) pregnancies. A cell culture to determine karyotype and an alpha-fetoprotein determination was carried out in all cases. From 1974 to 1981 amniocenteses became increasingly common, rising from 2 to 32 per 1000 births. The most common indication for amniocentesis was a high risk of a chromosome abnormality--56 per cent of all amniocenteses. Within this group advanced maternal age was responsible for 89 per cent of the cases. The next most common indication was a high risk of a neural tube defect (37 per cent of all amniocenteses) --in 1974 a raised maternal serum alpha-fetoprotein level accounted for only 4 per cent of these; by 1981 this had risen to 67 per cent. There were seven false-positive and 132 true-positive diagnoses of neural tube defect; since 1981, with the introduction of amniotic fluid acetylocholinesterase determination as a secondary diagnostic test for neural tube defects, there have been no further false-positive diagnoses. In 1981 76 per cent of women aged 35 years or more did not have an amniocentesis. It is not known to what extent this was due to not offering women in this age group amniocentesis or to women not accepting such an offer.

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Giorgio Filippi, April 4, 1935-January 19, 1996

Siniscalco

1997

Am. J. Med. Genet.

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Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

Cited by 12 publications

References 4 publications

The centralized prenatal genetics screening program of New York City III: The first 7,000 cases

The centralized prenatal genetics screening program of New York City III: The first 7,000 cases

A survey of diagnostic amniocenteses in Oxford from 1974–1981

Giorgio Filippi, April 4, 1935-January 19, 1996

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