{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T11:52:40Z","timestamp":1770292360843,"version":"3.49.0"},"reference-count":41,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:00:00Z","timestamp":1649894400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/genes13040690","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T21:44:06Z","timestamp":1649972646000},"page":"690","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9867-063X","authenticated-orcid":false,"given":"Katarzyna","family":"Kowalczyk","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9533-3494","authenticated-orcid":false,"given":"Magdalena","family":"Bartnik-G\u0142aska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Smyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7605-7412","authenticated-orcid":false,"given":"Izabela","family":"Plaskota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Bernaciak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"K\u0119dzior","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6533-3090","authenticated-orcid":false,"given":"Barbara","family":"Wi\u015bniowiecka-Kowalnik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Deperas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justyna","family":"Domaradzka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7004-8331","authenticated-orcid":false,"given":"Alicja","family":"\u0141uszczek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daria","family":"Dutkiewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Kozar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominika","family":"Grad","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5485-1607","authenticated-orcid":false,"given":"Magdalena","family":"Niemiec","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamila","family":"Ziemkiewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00f3\u017ca","family":"Magdziak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Braun-Walicka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artur","family":"Barczyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6484-8751","authenticated-orcid":false,"given":"Maciej","family":"Geremek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Casta\u00f1eda","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5295-7363","authenticated-orcid":false,"given":"Anna","family":"Kutkowska-Ka\u017amierczak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"W\u0142asienko","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna","family":"Jakub\u00f3w-Durska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5695-889X","authenticated-orcid":false,"given":"Marzena","family":"D\u0119bska","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1\/3, 02-015 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4919-6425","authenticated-orcid":false,"given":"Anna","family":"Kuci\u0144ska-Chahwan","sequence":"additional","affiliation":[{"name":"Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5492-0676","authenticated-orcid":false,"given":"Szymon","family":"Koz\u0142owski","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyana","family":"Mikulska","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3647-3550","authenticated-orcid":false,"given":"Tadeusz","family":"Issat","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Roszkowski","sequence":"additional","affiliation":[{"name":"Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Nawara-Baran","sequence":"additional","affiliation":[{"name":"Specialist Gabinets Volumed, Zdrowa 1\/3, 31-216 Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Runge","sequence":"additional","affiliation":[{"name":"Genetic Department, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University of Torun, 85-067 Bydgoszcz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Jakubiuk-Tomaszuk","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Mastermed Medical Center, 15-302 Bialystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kruczek","sequence":"additional","affiliation":[{"name":"Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Kostyk","sequence":"additional","affiliation":[{"name":"Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grzegorz","family":"Pietras","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Perinatology, Medical University of Lublin, Jaczewskiego 8, 20-090 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janusz","family":"Limon","sequence":"additional","affiliation":[{"name":"Prenatal Unit, Medical University of Gdansk, Marii Sklodowskiej-Curie 3a, 80-210 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Zwoli\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Hospital of St. Families in Warsaw, Madalinskiego 25, 02-544 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina","family":"Ochman","sequence":"additional","affiliation":[{"name":"Clinics and Medical Laboratories INVICTA, Genetics Clinic, Rajska 10, 80-850 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Szajner","sequence":"additional","affiliation":[{"name":"Specialist Hospital Pro-Familia, Witolda 6B, 35-302 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9876-8493","authenticated-orcid":false,"given":"Piotr","family":"W\u0119grzyn","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Perinatology and Gynaecology, Faculty of Health Sciences, Medical University of Warsaw, Zwirki i Wigury 63a, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miros\u0142aw","family":"Wielgo\u015b","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. 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Gynecol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"571219","DOI":"10.3389\/fgene.2020.571219","article-title":"Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies","volume":"11","author":"Xiang","year":"2020","journal-title":"Front. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/eme04010","article-title":"Evaluation of Array Comparative Genomic Hybridisation in prenatal diagnosis of fetal anomalies: A multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation","volume":"4","author":"Robson","year":"2017","journal-title":"Effic. Mech. Eval."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ogc.2017.10.002","article-title":"The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis","volume":"45","author":"Stosic","year":"2018","journal-title":"Obstet. Gynecol. Clin. N. Am."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/uog.12372","article-title":"Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: Evaluation of chromosomal microarray-based analysis","volume":"41","author":"Morales","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Committee on Genetics and the Society for Maternal-Fetal Medicine (2016). Committee Opinion No. 682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology. Obstet. Gynecol., 128, e262\u2013e268.","DOI":"10.1097\/AOG.0000000000001817"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/pd.5212","article-title":"ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?","volume":"38","author":"Hay","year":"2018","journal-title":"Prenat. Diagn."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1136\/jmedgenet-2017-105013","article-title":"Practice guideline: Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada","volume":"55","author":"Armour","year":"2018","journal-title":"J. Med. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41431-018-0244-x","article-title":"European guidelines for constitutional cytogenomic analysis","volume":"27","author":"Silva","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e22630","DOI":"10.1002\/jcla.22630","article-title":"Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype","volume":"33","author":"Song","year":"2019","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1080\/14767058.2018.1519800","article-title":"Clinical value of chromosomal microarray analysis in prenatally diagnosed dextro-transposition of the great arteries","volume":"33","author":"Lee","year":"2020","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Wu, X.L., Li, R., Fu, F., Pan, M., Han, J., Yang, X., Zhang, Y.L., Li, F.T., and Liao, C. (2017). Chromosome microarray analysis in the investigation of children with congenital heart disease. BMC Pediatr., 17.","DOI":"10.1186\/s12887-017-0863-3"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s13052-017-0355-y","article-title":"Fragile X syndrome: A review of clinical and molecular diagnoses","volume":"43","author":"Ciaccio","year":"2017","journal-title":"Ital. J. Pediatr."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for prenatal diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1038\/ejhg.2015.193","article-title":"Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: Causative, unexpected and susceptibility CNVs","volume":"24","author":"Srebniak","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1002\/pd.3943","article-title":"Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound","volume":"32","author":"Shaffer","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e1446","DOI":"10.1002\/mgg3.1446","article-title":"Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China","volume":"8","author":"Wang","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/pd.3861","article-title":"Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature","volume":"32","author":"Breman","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.3389\/fgene.2019.01162","article-title":"A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings","volume":"10","author":"Chai","year":"2019","journal-title":"Front. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1002\/pd.3945","article-title":"Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies","volume":"32","author":"Shaffer","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Lovrecic, L., Remec, Z.I., Volk, M., Rudolf, G., Writzl, K., and Peterlin, B. (2016). Clinical utility of array comparative genomic hybridisation in prenatal setting. BMC Med. Genet., 17.","DOI":"10.1186\/s12881-016-0345-8"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/uog.12575","article-title":"Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: A systematic review of the literature","volume":"43","author":"Srebniak","year":"2014","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1097\/AOG.0000000000002975","article-title":"Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies","volume":"132","author":"Maya","year":"2018","journal-title":"Obstet. Gynecol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/pd.5449","article-title":"Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France","volume":"39","author":"Hureaux","year":"2019","journal-title":"Prenat. Diagn."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/pd.5420","article-title":"Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis","volume":"39","author":"Li","year":"2019","journal-title":"Prenat. Diagn."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1002\/pd.5550","article-title":"Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in fetuses with ultrasound anomalies in the urinary system","volume":"39","author":"Hu","year":"2019","journal-title":"Prenat. Diagn."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/gim.2015.78","article-title":"Simons VIP consortium. Clinical phenotype of the recurrent 1q21.1 copy-number variant","volume":"18","author":"Bernier","year":"2016","journal-title":"Genet. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1097\/MCD.0000000000000327","article-title":"Recurrent 1q21.1 deletion syndrome: Report on variable expression, nonpenetrance and review of literature","volume":"29","author":"Upadhyai","year":"2020","journal-title":"Clin. Dysmorphol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/uog.18928","article-title":"Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: A French multicenter study","volume":"52","author":"Egloff","year":"2018","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.tjog.2018.08.023","article-title":"Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound","volume":"57","author":"Chen","year":"2018","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<273::AID-AJMG6>3.0.CO;2-H","article-title":"Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism","volume":"91","author":"Faivre","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.tjog.2014.05.004","article-title":"Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies","volume":"53","author":"Li","year":"2014","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1038\/ejhg.2009.174","article-title":"Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12","volume":"18","author":"Nagamani","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ajhg.2009.05.005","article-title":"Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations","volume":"84","author":"Stankiewicz","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1002\/ajmg.a.33378","article-title":"Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease","volume":"152A","author":"Yu","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"e427","DOI":"10.1097\/PCC.0b013e3182192c96","article-title":"16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn","volume":"12","author":"Zufferey","year":"2011","journal-title":"Pediatr. Crit. Care Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1136\/jmg.2008.065888","article-title":"Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements","volume":"47","author":"Dimitrov","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1002\/ajmg.a.36580","article-title":"Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects","volume":"164A","author":"Bauters","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1002\/pd.5523","article-title":"SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects","volume":"39","author":"Hureaux","year":"2019","journal-title":"Prenat. Diagn."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/pd.5375","article-title":"Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies","volume":"39","author":"Wang","year":"2019","journal-title":"Prenat. 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