目的:分析产前超声和分子检测对胎儿骨骼发育不良(SD)的诊断价值。
方法:临床数据,产前超声数据,我们从2019年5月至2021年12月在我们诊所的超声科收集了胎儿SD孕妇的分子结果。
结果:共纳入40例胎儿SD孕妇,82.5%表现为短肢畸形,其次是25.0%的中枢神经系统畸形,17.50%有面部畸形,15%患有心脏畸形,和12.5%的泌尿系统畸形。基因检测阳性率为70.0%(28/40),92.8%(26/28)是由于FGFR3,COL1A1,COL1A2,EVC2,FLNB,LBR,和TRPV4基因。最常见的SD亚型是成骨不全症(OI),绝育性发育不良(TD),和软骨发育不全(ACH)。TD初始诊断时的胎龄(GA),OI,ACH分别为16.6、20.9和28.3周,分别为(p<0.05),三组间股骨短缩无显著差异(p>0.05)。在OI案件中,12人中有5人有家族史。
结论:短肢畸形是SD的最常见表型。当怀疑胎儿SD时,应进行详细的超声筛查,结合初始诊断时的GA,家族史,和分子证据,促进更准确的诊断,加强产前咨询和围产期管理。
OBJECTIVE: To analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD).
METHODS: Clinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021.
RESULTS: A total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28/40), with 92.8% (26/28) being single-gene disorders due to mutations in FGFR3, COL1A1, COL1A2, EVC2, FLNB, LBR, and TRPV4 genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3 weeks, respectively (p < 0.05), with no significant difference in femoral shortening between the three groups (p > 0.05). Of the OI cases, 5 out of 12 had a family history.
CONCLUSIONS: Short limb deformity is the most prevalent phenotype of SD. When fetal SD is suspected, detailed ultrasound screening should be conducted, combined with GA at initial diagnosis, family history, and molecular evidence, to facilitate more accurate diagnosis and enhance prenatal counseling and perinatal management.