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. 2011:2011:807106.
doi: 10.5402/2011/807106. Epub 2011 Dec 12.

Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility

J J P M Pieters  1 , A J A Kooper, A Geurts van Kessel, D D M Braat, A P T Smits
Affiliations

Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility

J J P M Pieters et al. ISRN Obstet Gynecol. 2011.

Abstract

Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex chromosomal aneuploidies from 1980 to 2011. Results. Postnatally diagnosed sex chromosomal aneuploidies demonstrated three clinical relevant domains of abnormality: physical (22-100%), behavior (0-56%), and reproductive health (47-100%), while incidentally prenatally diagnosed sex chromosomal aneuploidies demonstrated, respectively, 0-33%, 0-40%, and 0-36%. Conclusion. In the literature incidental prenatal diagnosis of sex chromosomal aneuploidies is associated with normal to mildly affected phenotypes. This contrasts sharply with those of postnatally diagnosed sex chromosomal aneuploidies and highlights the importance of this ascertainment bias towards the prognostic value of diagnosis of fetal sex chromosomal aneuploidies. This observation should be taken into account, especially when considering excluding the sex chromosomes in invasive prenatal testing using Rapid Aneuploidy Detection.

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Figures

Figure 1
Figure 1
Publications on SCA, 1980–2011, syndrome-specific quality-of-life domains incidental prenatal detection versus postnatal diagnosis.
Figure 2
Figure 2
Prisma Flowchart of systematic study selection (stage 1: 2006–2011).
Figure 3
Figure 3
Flow diagram of systematic literature search of SCA, 1980–2011: phenotype and health of incidental prenatal diagnosis versus postnatal diagnosis.
See this image and copyright information in PMC

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