Genes (Apr 2022)
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies
- Katarzyna Kowalczyk,
- Magdalena Bartnik-Głaska,
- Marta Smyk,
- Izabela Plaskota,
- Joanna Bernaciak,
- Marta Kędzior,
- Barbara Wiśniowiecka-Kowalnik,
- Marta Deperas,
- Justyna Domaradzka,
- Alicja Łuszczek,
- Daria Dutkiewicz,
- Agata Kozar,
- Dominika Grad,
- Magdalena Niemiec,
- Kamila Ziemkiewicz,
- Róża Magdziak,
- Natalia Braun-Walicka,
- Artur Barczyk,
- Maciej Geremek,
- Jennifer Castañeda,
- Anna Kutkowska-Kaźmierczak,
- Paweł Własienko,
- Krystyna Jakubów-Durska,
- Marzena Dębska,
- Anna Kucińska-Chahwan,
- Szymon Kozłowski,
- Boyana Mikulska,
- Tadeusz Issat,
- Tomasz Roszkowski,
- Agnieszka Nawara-Baran,
- Agata Runge,
- Anna Jakubiuk-Tomaszuk,
- Anna Kruczek,
- Ewa Kostyk,
- Grzegorz Pietras,
- Janusz Limon,
- Jerzy Zwoliński,
- Karolina Ochman,
- Tomasz Szajner,
- Piotr Węgrzyn,
- Mirosław Wielgoś,
- Maria Sąsiadek,
- Ewa Obersztyn,
- Beata Anna Nowakowska
Affiliations
- Katarzyna Kowalczyk
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Magdalena Bartnik-Głaska
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Marta Smyk
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Izabela Plaskota
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Joanna Bernaciak
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Marta Kędzior
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Barbara Wiśniowiecka-Kowalnik
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Marta Deperas
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Justyna Domaradzka
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Alicja Łuszczek
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Daria Dutkiewicz
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Agata Kozar
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Dominika Grad
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Magdalena Niemiec
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Kamila Ziemkiewicz
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Róża Magdziak
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Natalia Braun-Walicka
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Artur Barczyk
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Maciej Geremek
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Jennifer Castañeda
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Anna Kutkowska-Kaźmierczak
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Paweł Własienko
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Krystyna Jakubów-Durska
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Marzena Dębska
- 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1/3, 02-015 Warsaw, Poland
- Anna Kucińska-Chahwan
- Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland
- Szymon Kozłowski
- Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Boyana Mikulska
- Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Tadeusz Issat
- Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Tomasz Roszkowski
- Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland
- Agnieszka Nawara-Baran
- Specialist Gabinets Volumed, Zdrowa 1/3, 31-216 Krakow, Poland
- Agata Runge
- Genetic Department, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University of Torun, 85-067 Bydgoszcz, Poland
- Anna Jakubiuk-Tomaszuk
- Medical Genetics Unit, Mastermed Medical Center, 15-302 Bialystok, Poland
- Anna Kruczek
- Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland
- Ewa Kostyk
- Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland
- Grzegorz Pietras
- Department of Obstetrics and Perinatology, Medical University of Lublin, Jaczewskiego 8, 20-090 Lublin, Poland
- Janusz Limon
- Prenatal Unit, Medical University of Gdansk, Marii Sklodowskiej-Curie 3a, 80-210 Gdansk, Poland
- Jerzy Zwoliński
- Department of Obstetrics, Hospital of St. Families in Warsaw, Madalinskiego 25, 02-544 Warsaw, Poland
- Karolina Ochman
- Clinics and Medical Laboratories INVICTA, Genetics Clinic, Rajska 10, 80-850 Gdansk, Poland
- Tomasz Szajner
- Specialist Hospital Pro-Familia, Witolda 6B, 35-302 Rzeszow, Poland
- Piotr Węgrzyn
- Department of Obstetrics, Perinatology and Gynaecology, Faculty of Health Sciences, Medical University of Warsaw, Zwirki i Wigury 63a, 02-091 Warsaw, Poland
- Mirosław Wielgoś
- 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1/3, 02-015 Warsaw, Poland
- Maria Sąsiadek
- Department of Genetics, Wroclaw Medical University, K. Marcinkowskiego 1, 50-368 Wroclaw, Poland
- Ewa Obersztyn
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- Beata Anna Nowakowska
- Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
- DOI
- https://doi.org/10.3390/genes13040690
- Journal volume & issue
-
Vol. 13,
no. 4
p. 690
Abstract
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.
Keywords
