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Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Kowalczyk, Katarzyna; Bartnik-Glaska, Magdalena; Smyk, Marta; Plaskota, Izabela; Bernaciak, Joanna; Kedzior, Marta; Wisniowiecka-Kowalnik, Barbara; Deperas, Marta; Domaradzka, Justyna; Luszczek, Alicja; Dutkiewicz, Daria; Kozar, Agata; Grad, Dominika; Niemiec, Magdalena; Ziemkiewicz, Kamila; Magdziak, Róza; Braun-Walicka, Natalia; Barczyk, Artur; Geremek, Maciej; Castañeda, Jennifer; Kutkowska-Kazmierczak, Anna; Wlasienko, Pawel; Jakubów-Durska, Krystyna; Debska, Marzena; Kucinska-Chahwan, Anna; Kozlowski, Szymon; Mikulska, Boyana; Issat, Tadeusz; Roszkowski, Tomasz; Nawara-Baran, Agnieszka; Runge, Agata; Jakubiuk-Tomaszuk, Anna; Kruczek, Anna; Kostyk, Ewa; Pietras, Grzegorz; Limon, Janusz; Zwolinski, Jerzy; Ochman, Karolina; Szajner, Tomasz; Wegrzyn, Piotr; Wielgos, Miroslaw; Sasiadek, Maria; Obersztyn, Ewa; Nowakowska, Beata Anna.
Afiliação
  • Kowalczyk K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Bartnik-Glaska M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Smyk M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Plaskota I; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Bernaciak J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Kedzior M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Wisniowiecka-Kowalnik B; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Deperas M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Domaradzka J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Luszczek A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Dutkiewicz D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Kozar A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Grad D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Niemiec M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Ziemkiewicz K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Magdziak R; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Braun-Walicka N; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Barczyk A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Geremek M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Castañeda J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Wlasienko P; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Jakubów-Durska K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Debska M; 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1/3, 02-015 Warsaw, Poland.
  • Kucinska-Chahwan A; Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland.
  • Kozlowski S; Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Mikulska B; Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Issat T; Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Roszkowski T; Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland.
  • Nawara-Baran A; Specialist Gabinets Volumed, Zdrowa 1/3, 31-216 Krakow, Poland.
  • Runge A; Genetic Department, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University of Torun, 85-067 Bydgoszcz, Poland.
  • Jakubiuk-Tomaszuk A; Medical Genetics Unit, Mastermed Medical Center, 15-302 Bialystok, Poland.
  • Kruczek A; Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland.
  • Kostyk E; Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland.
  • Pietras G; Department of Obstetrics and Perinatology, Medical University of Lublin, Jaczewskiego 8, 20-090 Lublin, Poland.
  • Limon J; Prenatal Unit, Medical University of Gdansk, Marii Sklodowskiej-Curie 3a, 80-210 Gdansk, Poland.
  • Zwolinski J; Department of Obstetrics, Hospital of St. Families in Warsaw, Madalinskiego 25, 02-544 Warsaw, Poland.
  • Ochman K; Clinics and Medical Laboratories INVICTA, Genetics Clinic, Rajska 10, 80-850 Gdansk, Poland.
  • Szajner T; Specialist Hospital Pro-Familia, Witolda 6B, 35-302 Rzeszow, Poland.
  • Wegrzyn P; Department of Obstetrics, Perinatology and Gynaecology, Faculty of Health Sciences, Medical University of Warsaw, Zwirki i Wigury 63a, 02-091 Warsaw, Poland.
  • Wielgos M; 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1/3, 02-015 Warsaw, Poland.
  • Sasiadek M; Department of Genetics, Wroclaw Medical University, K. Marcinkowskiego 1, 50-368 Wroclaw, Poland.
  • Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Nowakowska BA; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Genes (Basel) ; 13(4)2022 04 14.
Article em En | MEDLINE | ID: mdl-35456496
The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.2% (2010/7400), including 71.2% (1431/2010) of numerical aberrations and 28.8% (579/2010) of structural aberrations. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 6.8% (505/7400) and 0.7% (57/7400) for variants of unknown clinical significance. The detection rate of clinically significant submicroscopic CNVs was 7.9% (334/4204) for fetuses with structural anomalies, 5.4% (18/336) in AMA, 3.1% (22/713) in the group of abnormal serum screening and 6.1% (131/2147) in other indications. Using the aCGH method, it was possible to assess the frequency of pathogenic chromosomal aberrations, of likely pathogenic and of uncertain clinical significance, in the groups of cases with different indications for an invasive test.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Feto Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Feto Idioma: En Ano de publicação: 2022 Tipo de documento: Article