Search Results - "Roszkowski, Tomasz"

Triploid pregnancy–Clinical implications by Massalska, Diana, Bijok, Julia, Kucińska‐Chahwan, Anna, Zimowski, Janusz Grzegorz, Ozdarska, Katarzyna, Panek, Grzegorz, Roszkowski, Tomasz

“…Triploidy is a life‐limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic…”
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Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy by Massalska, Diana, Ozdarska, Katarzyna, Bijok, Julia, Roszkowski, Tomasz, Kucińska-Chahwan, Anna, Jakiel, Grzegorz, Panek, Grzegorz Mieczysław, Zimowski, Janusz Grzegorz

“…Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric cases,…”
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Distribution of diandric and digynic triploidy depending on gestational age by Massalska, Diana, Ozdarska, Katarzyna, Roszkowski, Tomasz, Bijok, Julia, Kucińska-Chahwan, Anna, Panek, Grzegorz Mieczysław, Zimowski, Janusz Grzegorz

“…Purpose To establish the distribution of diandric and digynic triploidy depending on gestational age. Methods 107 triploid samples tested prospectively in a…”
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In-house genetic counseling increases the detection of abnormal karyotypes—a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland by Bijok, Julia, Kucińska–Chahwan, Anna, Massalska, Diana, Ilnicka, Alicja, Panek, Grzegorz, Roszkowski, Tomasz

“…Purpose To evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital. Methods A retrospective analysis of invasive prenatal…”
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First trimester pregnancy loss: Clinical implications of genetic testing by Massalska, Diana, Zimowski, Janusz Grzegorz, Bijok, Julia, Pawelec, Magdalena, Czubak‐Barlik, Małgorzata, Jakiel, Grzegorz, Roszkowski, Tomasz

“…Around 10–15% of pregnancies result in a spontaneous first trimester miscarriage, which is most frequently caused by chromosomal abnormalities, mainly…”
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Twin pregnancies discordant for digynic triploidy – A case series by Massalska, Diana, Bijok, Julia, Kucińska-Chahwan, Anna, Zimowski, Janusz Grzegorz, Panek, Grzegorz, Roszkowski, Tomasz

“…To analyse natural course and perinatal management in twin pregnancies discordant for digynic triploidy. We present five cases of twins discordant for digynic…”
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The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency by Kucińska-Chahwan, Anna, Szczęśniak, Dominika, Nowakowska, Beata, Roszkowski, Tomasz

“…The aim of the report is to highlight importance of careful ultrasound examination and genetic counsel in case of split hand/foot prenatal diagnosis…”
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A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC) by Domaradzka, Justyna, Deperas, Marta, Obersztyn, Ewa, Kucińska-Chahwan, Anna, Brison, Nathalie, Van Den Bogaert, Kris, Roszkowski, Tomasz, Kędzior, Marta, Bartnik-Głaska, Magdalena, Łuszczek, Alicja, Jakubów-Durska, Krystyna, Vermeesch, Joris Robert, Nowakowska, Beata Anna

“…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…”
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Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders by Massalska, Diana, Zimowski, Janusz Grzegorz, Roszkowski, Tomasz, Bijok, Julia, Pawelec, Magdalena, Bednarska‐Makaruk, Małgorzata

“…Aim The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker…”
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Maternal thyroid function and free beta human chorionic gonadotrophin level in triploid pregnancies of paternal origin by Massalska, Diana, Bińkowska, Małgorzata, Bijok, Julia, Kucińska-Chahwan, Anna, Roszkowski, Tomasz, Ozdarska, Katarzyna, Grzegorz Zimowski, Janusz

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Using cluster analysis to determine different sonographic phenotypes of fetal complex ventral wall malformations by Bijok, Julia, Kucińska-Chahwan, Anna, Massalska, Diana, Bodziak, Marcin, Roszkowski, Tomasz

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Triploidy – variability of sonographic phenotypes by Massalska, Diana, Bijok, Julia, Ilnicka, Alicja, Jakiel, Grzegorz, Roszkowski, Tomasz

“…Objectives To analyze sonographic abnormalities in triploid pregnancies and assess the usefulness of the classification proposed by McFadden and Kalousek for…”
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Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies by Bijok, Julia, Dąbkowska, Sylwia, Kucińska-Chahwan, Anna, Massalska, Diana, Nowakowska, Beata, Gawlik-Zawiślak, Sylwia, Panek, Grzegorz, Roszkowski, Tomasz

“…Objectives To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS). Methods A retrospective…”
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Triploidy - variability of sonographic phenotypes: Ultrasonographic phenotypes of fetal triploidy by Massalska, Diana, Bijok, Julia, Ilnicka, Alicja, Jakiel, Grzegorz, Roszkowski, Tomasz

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Prenatal diagnosis of Emanuel syndrome - case series and review of the literature by Piwowarczyk, Patrycja, Massalska, Diana, Obodzińska, Izabela, Gawlik Zawiślak, Sylwia, Bijok, Julia, Kucińska-Chahwan, Anna, Roszkowski, Tomasz

“…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…”
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Ultrasound evaluation of a bilobed placenta with 'battledore cord insertion' - a report of an unusual case by Dabkowska, Sylwia, Panek, Grzegorz, Bijok, Julia, Ciebiera, Michal, Roszkowski, Tomasz

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Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review by Dąbkowska, Sylwia, Kucińska‐Chahwan, Anna, Beneturska, Anna, Ilnicka, Alicja, Nowakowska, Beata, Panek, Grzegorz, Roszkowski, Tomasz, Bijok, Julia

“…Objectives To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed…”
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Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience by Kucińska-Chahwan, Anna, Geremek, Maciej, Roszkowski, Tomasz, Bijok, Julia, Massalska, Diana, Ciebiera, Michał, Correia, Hildeberto, Pereira-Caetano, Iris, Barreta, Ana, Obersztyn, Ewa, Kutkowska-Kaźmierczak, Anna, Własienko, Paweł, Krajewska-Walasek, Małgorzata, Węgrzyn, Piotr, Dudarewicz, Lech, Krzeszowski, Waldemar, Rybak-Krzyszkowska, Magda, Nowakowska, Beata

“…Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular…”
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Clinical significance of the prenatal double bubble sign - single institution experience by Kucińska-Chahwan, Anna, Posiewka, Anna, Bijok, Julia, Jakiel, Grzegorz, Roszkowski, Tomasz

“…Objective The objective of this study is to determine the risk of aneuploidy, associated structural anomalies, and pregnancy outcome in the presence of…”
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Complex malformations involving the fetal body wall – definition and classification issues by Bijok, Julia, Massalska, Diana, Kucińska‐Chahwan, Anna, Posiewka, Anna, Ilnicka, Alicja, Jakiel, Grzegorz, Roszkowski, Tomasz

“…Objective The objective of the study is to analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the…”
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