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Article: Prenatal diagnosis of 5p deletion syndrome: Report of five cases

TitlePrenatal diagnosis of 5p deletion syndrome: Report of five cases
Authors
Keywords5p deletion syndrome
cfDNA
cri‐du‐chat syndrome
prenatal diagnosis
Issue Date2019
PublisherWiley-Blackwell Publishing Asia. The Journal's web site is located at http://www.wiley.com/WileyCDA/WileyTitle/productCd-JOG.html
Citation
Journal of Obstetrics and Gynaecology Research, 2019, v. 45 n. 4, p. 923-926 How to Cite?
AbstractIt is difficult to prenatally identify 5p deletion (−) syndrome. Here, we report five cases of 5p‐ syndrome diagnosed by invasive prenatal diagnosis. Of them, three had a small cerebellum in the second trimester. In one case, a prominent renal pelvis and an absent nasal bone were also found in the first trimester. However, there were no abnormal ultrasound findings in the other two cases. Two cases had noninvasive prenatal testing and one showed a ‘5p‐ syndrome positive result’ because of reduced amount of cell‐free DNA in 5p. Two had combined first‐trimester screening performed where one had a high‐risk result for trisomy 18 and a low pregnancy‐associated plasma protein‐A level. Two cases of 5p‐ syndrome resulted from a parental balanced translocation. Prenatal diagnosis will only be made on invasive prenatal diagnosis for abnormal ultrasound findings with small cerebellum, abnormal prenatal screening or a parental reciprocal translocation involving 5p.
Persistent Identifierhttp://hdl.handle.net/10722/277774
ISSN
2019 Impact Factor: 1.392
2015 SCImago Journal Rankings: 0.521

 

DC FieldValueLanguage
dc.contributor.authorMak, ASL-
dc.contributor.authorMa, TWL-
dc.contributor.authorChan, KYK-
dc.contributor.authorKan, ASY-
dc.contributor.authorTang, MHY-
dc.contributor.authorLeung, KY-
dc.date.accessioned2019-10-04T08:01:05Z-
dc.date.available2019-10-04T08:01:05Z-
dc.date.issued2019-
dc.identifier.citationJournal of Obstetrics and Gynaecology Research, 2019, v. 45 n. 4, p. 923-926-
dc.identifier.issn1341-8076-
dc.identifier.urihttp://hdl.handle.net/10722/277774-
dc.description.abstractIt is difficult to prenatally identify 5p deletion (−) syndrome. Here, we report five cases of 5p‐ syndrome diagnosed by invasive prenatal diagnosis. Of them, three had a small cerebellum in the second trimester. In one case, a prominent renal pelvis and an absent nasal bone were also found in the first trimester. However, there were no abnormal ultrasound findings in the other two cases. Two cases had noninvasive prenatal testing and one showed a ‘5p‐ syndrome positive result’ because of reduced amount of cell‐free DNA in 5p. Two had combined first‐trimester screening performed where one had a high‐risk result for trisomy 18 and a low pregnancy‐associated plasma protein‐A level. Two cases of 5p‐ syndrome resulted from a parental balanced translocation. Prenatal diagnosis will only be made on invasive prenatal diagnosis for abnormal ultrasound findings with small cerebellum, abnormal prenatal screening or a parental reciprocal translocation involving 5p.-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing Asia. The Journal's web site is located at http://www.wiley.com/WileyCDA/WileyTitle/productCd-JOG.html-
dc.relation.ispartofJournal of Obstetrics and Gynaecology Research-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subject5p deletion syndrome-
dc.subjectcfDNA-
dc.subjectcri‐du‐chat syndrome-
dc.subjectprenatal diagnosis-
dc.titlePrenatal diagnosis of 5p deletion syndrome: Report of five cases-
dc.typeArticle-
dc.identifier.emailMak, ASL: makasl@HKUCC-COM.hku.hk-
dc.identifier.emailMa, TWL: mawlt@hku.hk-
dc.identifier.emailChan, KYK: ykchanc@hku.hk-
dc.identifier.emailKan, ASY: kansya@hkucc.hku.hk-
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hk-
dc.identifier.emailLeung, KY: leungkyb@hkucc.hku.hk-
dc.identifier.authorityChan, KYK=rp00453-
dc.identifier.authorityTang, MHY=rp01701-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/jog.13911-
dc.identifier.pmid30932301-
dc.identifier.scopuseid_2-s2.0-85063610113-
dc.identifier.hkuros306750-
dc.identifier.volume45-
dc.identifier.issue4-
dc.identifier.spage923-
dc.identifier.epage926-
dc.publisher.placeAustralia-

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