Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies

被引：7

作者：

Kowalczyk, Katarzyna ^{[1
]}

Bartnik-Glaska, Magdalena ^{[1
]}

Smyk, Marta ^{[1
]}

Plaskota, Izabela ^{[1
]}

Bernaciak, Joanna ^{[1
]}

Kedzior, Marta ^{[1
]}

Wisniowiecka-Kowalnik, Barbara ^{[1
]}

Deperas, Marta ^{[1
]}

Domaradzka, Justyna ^{[1
]}

Luszczek, Alicja ^{[1
]}

Dutkiewicz, Daria ^{[1
]}

Kozar, Agata ^{[1
]}

Grad, Dominika ^{[1
]}

Niemiec, Magdalena ^{[1
]}

Ziemkiewicz, Kamila ^{[1
]}

Magdziak, Roza ^{[1
]}

Braun-Walicka, Natalia ^{[1
]}

Barczyk, Artur ^{[1
]}

Geremek, Maciej ^{[1
]}

Castaneda, Jennifer ^{[1
]}

Kutkowska-Kazmierczak, Anna ^{[1
]}

Wlasienko, Pawel ^{[1
]}

Jakubow-Durska, Krystyna ^{[1
]}

Debska, Marzena ^{[2
]}

Kucinska-Chahwan, Anna ^{[3
]}

Kozlowski, Szymon ^{[4
]}

Mikulska, Boyana ^{[4
]}

Issat, Tadeusz ^{[4
]}

Roszkowski, Tomasz ^{[3
]}

Nawara-Baran, Agnieszka ^{[5
]}

Runge, Agata ^{[6
]}

Jakubiuk-Tomaszuk, Anna ^{[7
]}

Kruczek, Anna ^{[8
]}

Kostyk, Ewa ^{[8
]}

Pietras, Grzegorz ^{[9
]}

Limon, Janusz ^{[10
]}

Zwolinski, Jerzy ^{[11
]}

Ochman, Karolina ^{[12
]}

Szajner, Tomasz ^{[13
]}

Wegrzyn, Piotr ^{[14
]}

Wielgos, Miroslaw ^{[2
]}

Sasiadek, Maria ^{[15
]}

Obersztyn, Ewa ^{[1
]}

Nowakowska, Beata Anna ^{[1
]}

机构：

[1] Inst Mother & Child Hlth, Dept Med Genet, Kasprzaka 17a, PL-01211 Warsaw, Poland

[2] Med Univ Warsaw, Dept Obstet & Gynecol 1, Pl S Starynkiewicza 1-3, PL-02015 Warsaw, Poland

[3] Med Ctr Postgrad Educ CMKP, Dept Gynecol Oncol & Obstet, Czerniakowska 231, PL-00416 Warsaw, Poland

[4] Inst Mother & Child Hlth, Clin Obstet & Gynaecol, Kasprzaka 17a, PL-01211 Warsaw, Poland

[5] Specialist Gabinets Volumed, Zdrowa 1-3, PL-31216 Krakow, Poland

[6] Nicolaus Copernicus Univ Torun, Ludw Rydygier Coll Med Bydgoszcz, Genet Dept, PL-85067 Bydgoszcz, Poland

[7] Mastermed Med Ctr, Med Genet Unit, PL-15302 Bialystok, Poland

[8] Genet Counselling Unit Kostyk & Kruczek, Henryka Wieniawskiego 64, PL-31436 Krakow, Poland

[9] Med Univ Lublin, Dept Obstet & Perinatol, Jaczewskiego 8, PL-20090 Lublin, Poland

[10] Med Univ Gdansk, Prenatal Unit, Marii Sklodowskiej Curie 3a, PL-80210 Gdansk, Poland

[11] Hosp St Families Warsaw, Dept Obstet, Madalinskiego 25, PL-02544 Warsaw, Poland

[12] Clin & Med Labs INVICTA, Genet Clin, Rajska 10, PL-80850 Gdansk, Poland

[13] Specialist Hosp Pro Familia, Witolda 6B, PL-35302 Rzeszow, Poland

[14] Med Univ Warsaw, Fac Hlth Sci, Dept Obstet Perinatol & Gynaecol, Zwirki & Wigury 63a, PL-02091 Warsaw, Poland

[15] Wroclaw Med Univ, Dept Genet, K Marcinkowskiego 1, PL-50368 Wroclaw, Poland

来源：

GENES | 2022年 / 13卷 / 04期

关键词：

microarray; prenatal diagnosis; CMA; aCGH; CHROMOSOMAL MICROARRAY; DELETION SYNDROME; DIAGNOSIS; ABNORMALITIES;

D O I：

10.3390/genes13040690

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：26

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