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.

22号染色体上的q11.2区域包含许多低拷贝重复序列，这些重复序列导致染色体中的区域缺失或重复，从而导致以智障或先天性异常为特征的各种综合征。患者表型与22q11.2拷贝数异常之间的关联先前在产后病例中已有描述；但是，由于产前检查中表型鉴定的局限性，这些特征在产前病例中尚未得到系统评价。在这项研究中，我们调查了使用单核苷酸多态性（SNP）阵列对2500例胎儿中22q11.2拷贝数异常的检出率，并确定了携带22q11.2拷贝数异常的胎儿的常见超声检查结果。22q11。根据母体血清筛查（13/13），在13例具有心血管畸形（6/13），肾畸形（3/13），孤立的超声标记物（3/13）或高危唐氏综合症的胎儿中发现2个拷贝数异常。 ）。大约0.5％（13/2500）的胎儿患有22q11.2拷贝数异常。具有这些异常的胎儿中最常见的超声检查结果是心血管畸形，其次是肾脏畸形和孤立的超声标记物。这些遗传异常的产前诊断可用于鉴别诊断的描述，各种相关畸形的特征以及产前诊断与产科预后之间存在关联的确定。孤立的超声标记物（3/13），或基于孕妇血清筛查的高危唐氏综合症（1/13）。大约0.5％（13/2500）的胎儿患有22q11.2拷贝数异常。具有这些异常的胎儿中最常见的超声检查结果是心血管畸形，其次是肾脏畸形和孤立的超声标记物。这些遗传异常的产前诊断可用于鉴别诊断的描述，各种相关畸形的特征以及产前诊断与产科预后之间存在关联的确定。孤立的超声标记物（3/13），或基于孕妇血清筛查的高危唐氏综合症（1/13）。大约0.5％（13/2500）的胎儿患有22q11.2拷贝数异常。具有这些异常的胎儿中最常见的超声检查结果是心血管畸形，其次是肾脏畸形和孤立的超声标记物。这些遗传异常的产前诊断可用于鉴别诊断的描述，各种相关畸形的表征以及确定产前诊断与产科预后之间的关联。具有这些异常的胎儿中最常见的超声检查结果是心血管畸形，其次是肾脏畸形和孤立的超声标记物。这些遗传异常的产前诊断可用于鉴别诊断的描述，各种相关畸形的表征以及确定产前诊断与产科预后之间的关联。具有这些异常的胎儿中最常见的超声检查结果是心血管畸形，其次是肾脏畸形和孤立的超声标记物。这些遗传异常的产前诊断可用于鉴别诊断的描述，各种相关畸形的表征以及确定产前诊断与产科预后之间的关联。