Over the past 9 years we counseled 55 couples whose unborn child was found to carry a sex chromosome polysomy.
We performed a survey of postcounseling parental decisions about continuation or termination of these pregnancies.
Of the 55 embryos or fetuses, 23 had the karyotype 47, XXY, 10 had 47, XYY, and 12 had 47, XXX.
In addition, there were 10 instances of true mosaicism, i.e. 47, XXY/46, XY (n=5), 47, XYY/46, XY (n=2), or 47, XXX/46, XX (n=3).
Mean gestational age (± standard deviation) at diagnosis was 18.3 ± 3.0 weeks.
After comprehensive genetic counseling 48 (87.3%) of these pregnancies were carried to term.
In seven cases (12.7%) the parents elected a pregnancy termination.
Two of 31 pregnancies (6.5%) primarily ascertained at our center were aborted, whereas amongst the 24 referred cases, 5 couples (20.8%) opted for a termination.
The mean gestational age of the terminated pregnancies was 19.7 weeks.
The overall termination rate of 12.7% appears low in comparison with literature data.
Most reports from other institutions present termination rates between 32 and 66%. The reason for the low rate of induced abortions in our study cohort is not clear.
Cultural differences in parental perception of sex chromosomal polysomies may be of importance, and peculiarities of genetic counseling at our institution could also play a role. (...)
Mots-clés Pascal : Klinefelter syndrome, Conseil génétique, Prise décision, Parent, Gestation, Avortement thérapeutique, Incidence, Chromosome sexuel surnuméraire, Aneuploïdie, Aberration chromosomique, Mosaïcisme, Exploration, Homme, Diagnostic, Prénatal, Caryotype, Appareil génital mâle pathologie, Chromosome X surnuméraire, Hypogonadisme, Endocrinopathie, Malformation, Anomalie différenciation sexuelle
Mots-clés Pascal anglais : Klinefelter syndrome, Genetic counseling, Decision making, Parent, Pregnancy, Therapeutic abortion, Incidence, Supernumerary sex chromosome, Aneuploidy, Chromosomal aberration, Mosaicism, Exploration, Human, Diagnosis, Prenatal, Karyotype, Male genital diseases, Supernumerary X chromosome, Hypogonadism, Endocrinopathy, Malformation
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0039554
Code Inist : 002B20D. Création : 31/05/1999.