Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array
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ORIGINAL ARTICLE
Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array Meiying Cai1 · Na Lin1 · Linjuan Su1 · Xiaoqing Wu1 · Xiaorui Xie1 · Ying Li1 · Yuan Lin1 · Hailong Huang1 · Liangpu Xu1 Received: 13 April 2020 / Accepted: 4 September 2020 © The Author(s) 2020
Abstract The q11.2 region on chromosome 22 contains numerous low-copy repeats that lead to deleted or duplicated regions in the chromosome, thereby resulting in different syndromes characterized by intellectual disabilities or congenital anomalies. The association between patient phenotypes and 22q11.2 copy number abnormalities has been previously described in postnatal cases; however, these features have not been systematically evaluated in prenatal cases because of limitations in phenotypic identification in prenatal testing. In this study, we investigated the detection rate of 22q11.2 copy number abnormalities in 2500 fetuses using single nucleotide polymorphism (SNP) array and determined the common abnormal ultrasound findings in fetuses carrying the 22q11.2 copy number abnormalities. The 22q11.2 copy number abnormalities were identified in 13 fetuses with cardiovascular malformations (6/13), kidney malformations (3/13), isolated ultrasound markers (3/13), or high-risk Down syndrome based on maternal serum screening (1/13). Approximately 0.5% (13/2500) of the fetuses harbored 22q11.2 copy number abnormalities. The most frequent ultrasound findings in fetuses with these abnormalities were cardiovascular malformations, followed by kidney malformations and isolated ultrasound markers. Prenatal diagnosis of these genetic abnormalities allows for the delineation of differential diagnoses, characterization of a wide spectrum of associated malformations, and determination of associations that exist between prenatal diagnosis and obstetrical outcomes. Keywords 22q11.2 copy number abnormality · Single nucleotide polymorphism array · Prenatal diagnosis · Genomic diseases
Introduction Chromosome 22 has long been implicated in genomic diseases, such as 22q11.2 deletion syndrome (22q11.2DS) and cat-eye syndrome (CES), which are associated with decreased and increased gene dosages, respectively [1]. Approximately 1 in every 4000 live births shows 22q11.2DS, also known as velocardiofacial or DiGeorge syndrome, making the most common microdeletion syndrome in humans [2]. The 22q11.2DS phenotype is highly variable with over 180 clinical features [3], including congenital conotruncal * Hailong Huang hl‑[email protected] * Liangpu Xu [email protected] 1
Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
cardiac defects, characteristic facial features, immunodeficiency, palatal abnormalities, hypocalcemia, urogenital abnormalities, a spectrum of cognitive deficits, and psychiatric symptoms. On the contrary, CES is rare disorder caused by duplicatio
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