■产前超声特征,分析小耳畸形病例的相关异常和遗传异常,探讨产前超声诊断小耳畸形的可行性和价值。
■超声特征,相关异常,回顾性分析81例先天性小耳畸形胎儿的染色体检查结果和随访结果。
■在出生后诊断为小耳畸形的81个胎儿中,产前超声检查漏诊2例,产前超声诊断为单侧小耳畸形,但出生后发现为双侧小耳畸形。小耳畸形伴副耳廓4例(4.94%),低位耳7例(8.64%)。22例(27.16%)合并其他结构异常,包括11例(13.58%)心脏异常,超声软标记异常7例(8.64%),面部畸形6例(7.41%),神经系统异常6例(7.41%),3例(3.70%)泌尿生殖系统异常,消化道异常3例(3.70%),肢体异常2例(2.47%)。对44例患者进行染色体核型分析和基因检测。18三体,13三体,21三体,9号染色体周位倒位,14号染色体部分杂合性缺失,22q11微缺失,核型正常2例,2例,3例,1例,1例,1例,34例,分别。
■总之,小骨症通常伴有其他器官和结构的先天性缺陷,尤其是心脏和面部,产前超声诊断小耳畸形及相关异常具有重要的临床意义。
UNASSIGNED: Prenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility and value of prenatal ultrasound for the diagnosis of microtia.
UNASSIGNED: The ultrasonographic features, associated anomalies, chromosome examination results and follow-up results of 81 fetuses with congenital microtia were analyzed retrospectively.
UNASSIGNED: Among the 81 fetuses with microtia diagnosed after birth, 2 cases were missed diagnosis on prenatal ultrasound, and 1 case was diagnosed as unilateral microtia by prenatal ultrasound but was found to be bilateral microtia after birth. Microtia was accompanied by an accessory auricle in 4 cases (4.94%) and low-set ears in 7 cases (8.64%). 22 cases (27.16%) were complicated with other structural anomalies, including 11 cases (13.58%) of cardiac anomalies, 7 cases (8.64%) of ultrasonographic soft marker anomalies, 6 cases (7.41%) of facial anomalies, 6 cases (7.41%) of nervous system anomalies, 3 cases (3.70%) of urogenital system anomalies, 3 cases (3.70%) of digestive tract anomalies and 2 cases (2.47%) of limb anomalies. Chromosome karyotype analysis and gene detection were performed in 44 cases. Trisomy 18, trisomy 13, trisomy 21, pericentric inversion of chromosome 9, partial loss of heterozygosity on chromosome 14, 22q11 microdeletion and a normal karyotype were found in 2 cases, 2 cases, 3 cases, 1 case, 1 case, 1 case, and 34 cases, respectively.
UNASSIGNED: In summary, microtia is often accompanied by congenital defects of other organs and structures, especially the heart and face, and prenatal ultrasound diagnosis of microtia and associated anomalies is of important clinical significance.