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2016; Wiley; Volume: 48; Issue: 6 Linguagem: Inglês

10.1002/uog.17314

1469-0705

F. D’Antonio, Asma Khalil, Cathérine Garel, G. Pilu, Giuseppe Rizzo, Tally Lerman‐Sagie, A. Bhide, B. Thilaganathan, Lamberto Manzoli, Aris T. Papageorghiou,

Prenatal Screening and Diagnostics

We thank Professor Goergen for her comments on our work1 and the interesting points she raises. First, the study by Limperopoulos et al.2 was not included in our systematic review (see online Table 21) because, as we stated in the Methods section, ‘If more than one study was published for the same cohort with identical endpoints, the report containing the most comprehensive information on the population was included to avoid overlapping populations’. The study by Tarui et al.3 was included instead, because it met the criterion of containing the most comprehensive information: it contained a larger number of cases; included all cases except two reported by Limperopoulos et al.2; and had a longer period of follow-up. This decision, which was made according to methods defined a-priori, is reported clearly and remains correct within the methodology of the systematic review. Second, Professor Georgen states that the diagnostic criteria for inferior vermian hypoplasia (IVH) were not provided. This is true for the non-included study of Limperopoulos et al.2, but the criteria are defined in the study by Tarui et al.3; ‘…isolated IVH was diagnosed when there was partial absence of the inferior cerebellar vermis without any apparent anomalies in cerebellar hemispheres, posterior fossa cystic lesions, supratentorial anomalies or other systemic malformations’. Professor Georgen questions the diagnoses made in the paper of Limperopoulos et al. based on the given image. She also criticizes Tarui et al. for not including any images. We are not sure whether ‘everything is in a name’ or ‘a picture tells a thousand words’ is more appropriate, but we do think it unreasonable, in a systematic review, to revise reported diagnoses based on images of individual cases, particularly as it is not possible to know to which cases are being referred. This is the responsibility of authors, reviewers and editors at the point of publication of the primary study. As the paper in question is in any case not included in our systematic review, we humbly suggest that Professor Georgen direct her criticism to the cited authors so that they can respond accordingly. Regarding the issue of cases of BPC with aneuploidy in the study of Paladini et al.4, the second case of BPC referred to by Professor Georgen had associated anomalies. This was an exclusion criterion in our systematic review and is reported clearly in the Methods section. As this second case was not eligible for inclusion, the prevalence of trisomy 21 in this subset of fetuses has been reported correctly. As Professor Goergen highlights, one of the six cases (Case 4 in the series) of ‘isolated’ Dandy–Walker malformation (DWM) reported by Guibaud et al.5 was reclassified as BPC on review of fetal magnetic resonance imaging. Because of this we did not include the false-positive case (with BPC) in the analysis of DWM. Therefore, the prevalence does not change from that reported in the article. Table 1 refers to all cases of prenatally diagnosed posterior fossa anomalies reported in the medical literature. We agree that posterior fossa anomalies present a significant diagnostic dilemma in daily practice and that rigor and sophistication are required with regard to the definition and nomenclature of these abnormalities. While having to rely on studies of varying quality, we have exercised such rigor to the best of our ability in both our systematic reviews1, 5 of this fetal diagnosis. F. D'Antonio*†, A. Khalil†, C. Garel‡, G. Pilu§, G. Rizzo¶, T. Lerman-Sagie**, A. Bhide†, B. Thilaganathan†, L. Manzoli†† and A.T. Papageorghiou† †Fetal Medicine Unit, Division of Developmental Sciences, St George's University of London, London, UK; ‡Hopital d'Enfants Armand-Trousseau - Service de Radiologie, Cedex, Paris, France; §Department of Obstetrics and Gynecology, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy; ¶Department of Obstetrics and Gynecology, Universita di Roma, Tor Vergata, Rome, Italy; **Fetal Neurology Clinic and Paediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; ††Department of Medicine and Aging Sciences, University of Chieti-Pescara, and EMISAC, CeSI Biotech, Chieti, Italy *Correspondence. (e-mail: [email protected])