OBJECTIVE: To assess the clinical value of using high-resolution chromosomal microarray (CMA) for the examination of genomic imbalances in prenatal uncultured chorionic villus samples from fetuses with increased nuchal translucency (NT) and a normal quantitative fluorescent polymerase chain reaction (QF-PCR) result, in a clinical setting in which more than 95% of pregnant women receive first-trimester combined screening. METHODS: From January 2013 to July 2014, we included 132 chorionic villus samples from consecutive ongoing pregnancies, with fetal NT ≥ 3.5 mm at 11-13 weeks' gestation, from obstetric units (publicly funded healthcare) in Central and North Denmark Regions. DNA was extracted directly from the samples and examined with QF-PCR (n = 132) and 180 kb oligonucleotide array-based comparative genomic hybridization (n = 94). RESULTS: In 38 cases, aneuploidies for chromosomes 18, 21 or X, or triploidy, were detected by QF-PCR. Among the 94 cases with a normal QF-PCR result, we detected pathogenic copy number variants (CNVs) by CMA in 12 fetuses (12.8% (95% CI, 7.5-21.0%)). In an additional three (3.2%) cases, CNVs with uncertain clinical significance were detected. CONCLUSION: CMA is a valuable diagnostic technique in pregnancies with isolated fetal NT ≥ 3.5 mm.
OBJECTIVE: To assess the clinical value of using high-resolution chromosomal microarray (CMA) for the examination of genomic imbalances in prenatal uncultured chorionic villus samples from fetuses with increased nuchal translucency (NT) and a normal quantitative fluorescent polymerase chain reaction (QF-PCR) result, in a clinical setting in which more than 95% of pregnant women receive first-trimester combined screening. METHODS: From January 2013 to July 2014, we included 132 chorionic villus samples from consecutive ongoing pregnancies, with fetal NT ≥ 3.5 mm at 11-13 weeks' gestation, from obstetric units (publicly funded healthcare) in Central and North Denmark Regions. DNA was extracted directly from the samples and examined with QF-PCR (n = 132) and 180 kb oligonucleotide array-based comparative genomic hybridization (n = 94). RESULTS: In 38 cases, aneuploidies for chromosomes 18, 21 or X, or triploidy, were detected by QF-PCR. Among the 94 cases with a normal QF-PCR result, we detected pathogenic copy number variants (CNVs) by CMA in 12 fetuses (12.8% (95% CI, 7.5-21.0%)). In an additional three (3.2%) cases, CNVs with uncertain clinical significance were detected. CONCLUSION: CMA is a valuable diagnostic technique in pregnancies with isolated fetal NT ≥ 3.5 mm.
Authors: Olav B Petersen; Eric Smith; Diane Van Opstal; Marike Polak; Maarten F C M Knapen; Karin E M Diderich; Caterina M Bilardo; Lidia R Arends; Ida Vogel; Malgorzata I Srebniak Journal: Acta Obstet Gynecol Scand Date: 2020-05-12 Impact factor: 3.636
Authors: F Stipoljev; M Barbalic; M Logara; A Vicic; M Vulic; S Zekic Tomas; R Gjergja Juraski Journal: Balkan J Med Genet Date: 2021-03-23 Impact factor: 0.519
Authors: Anna Wójtowicz; Anna Madetko-Talowska; Wojciech Wójtowicz; Katarzyna Szewczyk; Hubert Huras; Mirosław Bik-Multanowski Journal: Int J Environ Res Public Health Date: 2022-08-14 Impact factor: 4.614
Authors: Malgorzata I Srebniak; Merel C de Wit; Karin E M Diderich; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Marnix J Bos; Gerda A G Looye-Bruinsma; Mieke Koningen; Attie T J I Go; Robert Jan H Galjaard; Diane Van Opstal Journal: Mol Cytogenet Date: 2016-09-07 Impact factor: 2.009