| Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies. | |
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MedLine Citation:
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PMID: 9856559 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. Although counseling was nondirective, we did put emphasis on providing prospective parents with information from unbiased follow-up studies of children with Klinefelter syndrome and other sex chromosome polysomies. |
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Authors:
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D Meschede; F Louwen; I Nippert; W Holzgreve; P Miny; J Horst |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 80 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Dec |
Date Detail:
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Created Date: 1999-02-17 Completed Date: 1999-02-17 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 330-4 Citation Subset: IM |
Affiliation:
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Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Induced
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statistics & numerical data* Female Follow-Up Studies Genetic Counseling Germany / epidemiology Humans Klinefelter Syndrome / diagnosis*, epidemiology, genetics Male Pregnancy Prenatal Diagnosis* Sex Chromosome Aberrations / diagnosis*, epidemiology, genetics XYY Karyotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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