Zobrazeno 1 - 10
of 169
pro vyhledávání: '"Kucińska-Chahwan A"'
Autor:
Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch, Beata Anna Nowakowska
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology. Case presentation T
Externí odkaz:
https://doaj.org/article/a67ed2280dd243d3952aab7386c1aa2c
Autor:
Diana Massalska, Julia Bijok, Anna Kucińska-Chahwan, Janusz Grzegorz Zimowski, Grzegorz Panek, Tomasz Roszkowski
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 1, Pp 139-141 (2021)
Objective: To analyse natural course and perinatal management in twin pregnancies discordant for digynic triploidy. Case report: We present five cases of twins discordant for digynic triploidy. Pregnancy outcome was known for three of them. In one ca
Externí odkaz:
https://doaj.org/article/9674624893cd4633bb3316fd540d581c
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 4, Pp 574-576 (2019)
Objective: The aim of the report is to highlight importance of careful ultrasound examination and genetic counsel in case of split hand/foot prenatal diagnosis. Evaluation of the accompanying long bone deficiency indicates that array comparative geno
Externí odkaz:
https://doaj.org/article/d1658459775b4c35af059ec20ef88005
Publikováno v:
In European Journal of Obstetrics & Gynecology and Reproductive Biology February 2024 293
Autor:
Massalska, Diana, Bińkowska, Małgorzata, Bijok, Julia, Kucińska-Chahwan, Anna, Roszkowski, Tomasz, Ozdarska, Katarzyna, Grzegorz Zimowski, Janusz
Publikováno v:
In European Journal of Obstetrics & Gynecology and Reproductive Biology February 2024 293
Autor:
Julia Bijok, Sylwia Dąbkowska, Anna Kucińska-Chahwan, Diana Massalska, Beata Nowakowska, Sylwia Gawlik-Zawiślak, Grzegorz Panek, Tomasz Roszkowski
Publikováno v:
Archives of Gynecology and Obstetrics. 307:293-299
To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS).A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound departme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714da48b8ae7196c1b23f44bb9cc9781
https://doi.org/10.1007/s00404-022-06584-3
https://doi.org/10.1007/s00404-022-06584-3
Autor:
Patrycja Piwowarczyk, Diana Massalska, Izabela Obodzińska, Sylwia Gawlik Zawiślak, Julia Bijok, Anna Kucińska-Chahwan, Tomasz Roszkowski
Publikováno v:
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.
We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuses have been analysed. In all three cases diagnosed in our department, posterior fossa abnormalities were seen and in one hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bafc20e86bf613d0847a31ee025f8e86
https://pubmed.ncbi.nlm.nih.gov/36048922
https://pubmed.ncbi.nlm.nih.gov/36048922
Autor:
Tomasz Roszkowski, Anna Kucińska-Chahwan, Julia Bijok, Grzegorz Panek, Diana Massalska, Katarzyna Ozdarska, Janusz Zimowski
Publikováno v:
Clinical Genetics. 100:368-375
Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::307d8e19b339a04f5d194debbab50bc8
https://doi.org/10.1111/cge.14003
https://doi.org/10.1111/cge.14003
Autor:
Anna Kucińska-Chahwan, Julia Bijok, Grzegorz Panek, Diana Massalska, Janusz Zimowski, Tomasz Roszkowski, Katarzyna Ozdarska
Publikováno v:
Journal of Assisted Reproduction and Genetics
Purpose To establish the distribution of diandric and digynic triploidy depending on gestational age. Methods 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of trip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb84c3c214db7441f8904784784491b
https://doi.org/10.1007/s10815-021-02202-4
https://doi.org/10.1007/s10815-021-02202-4
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