Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Prenat Diagn 2016 Jun 10;36(6):523-9. Epub 2016 May 10.

Laboratoire d'Histologie, Embryologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, CHI Poissy Saint Germain, Poissy, France.

Objective: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997.

Methods: This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded.

Results: Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY).

Conclusion: The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd.

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http://dx.doi.org/10.1002/pd.4817DOI Listing
June 2016
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(Supplied by CrossRef)
Klinefelter's syndrome
Lanfranco et al.
Lancet 2004
47, XYY syndrome and male infertility
Kim et al.
Rev Urol 2013
Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark
Nielsen et al.
Birth Defects Orig Artic Ser 1990

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