连续顺序追踪超声法诊断胎儿手足畸形的临床应用

Clinical application of ultrasound diagnosis on fetal hand-foot deformity with a systematic continuous sequence approach

目的分析胎儿手足畸形产前超声显示率偏低的原因及连续顺序追踪超声法在显示胎儿指趾畸形的应用价值。方法将25445例产前超声筛查胎儿肢体畸形的孕妇分为两组:常规超声筛查组12021例,仅在中孕期对胎儿上下肢长骨(肱骨和股骨)进行1次观察,而连续顺序追踪超声筛查组在中孕早期(孕13～14周)测量胎儿颈项透明层(NT);在中孕期(孕19～24周)系统筛查时对胎儿肢体进行第2次检查,观察手足时加用弧形扫查法与三维成像,对胎儿上、下肢长骨运用连续顺序追踪超声法检查后,对手掌或手指的观察采用以腕关节桡侧或尺侧为支点声束指向指尖作180°弧形扫查,并适当侧动探头,在对胎儿脚掌或脚趾的观察时采用以踝关节背侧或足跟为支点声束指向趾尖作100°弧形扫查。发现畸形,特别是可疑畸形或显示欠清楚时,采用三维表面成像检查,观察图像并确定胎儿肢体手、足有无异常,并对两组胎儿手足畸形检出率进行比较。结果两组25445例产后或引产后证实胎儿手足畸形146例,228处畸形,手足畸形发生率为0.57%(146/25445),单发畸形26例(17.8%,26/146),多发畸形120例(82.20%,120/146)。其中常规筛查组胎儿手足畸形68例(0.57%,68/12021),106处畸形;追踪筛查组胎儿手足畸形78例(0.58%,78/13424),122处畸形;两组胎儿手足畸形发生率比较差异无统计学意义(P>0.05)。146例手足畸形胎儿共8类228处畸形,其中畸形手33例,畸形44处;裂手或裂足3例,畸形8处;指(趾)缺如19例,畸形23处;重叠指10例,畸形12处;指骨缺失12例,畸形25处;多指趾21例,畸形39处;并指趾7例,畸形12处;足内翻41例,畸形65处。常规筛查组产前超声显示胎儿手足畸形18例(26.47%,18/68),指(趾)畸形均未显示(0/31);追踪筛查组产前超声显示胎儿手足畸形55例(70.51%,55/78),指(趾)畸形38例(63.33%,38/60);两组胎儿手足畸形产前超声显示率比较差异有统计学意义(P<0.05)。146例手足畸形胎儿合并神经(26例)、循环(13例)、消化(10例)、泌尿(10例)、骨骼系统(30例)畸形89例(60.96%,89/146)。常规筛查组手足畸形胎儿合并其他系统畸形41例,产前超声显示22例(53.66%,22/41),追踪筛查组合并畸形48例,产前超声显示36例(75.00%,36/48)。两组胎儿手足畸形合并其他系统畸形产前超声显示率比较差异有统计学意义(P<0.01)。追踪筛查组12例手足畸形胎儿行染色体检查,其中染色体异常6例(18-三体4例,21-三体2例)。结论胎儿手足畸形种类多,形成原因复杂,受胎儿姿势、羊水量多少影响,产前超声不易观察到手足(指、趾)畸形,显示率偏低。至17孕周时胎儿各节指(趾)骨才全部骨化,此阶段不是检查手、足畸形的最佳时机;18～20孕周胎手多呈伸手或半伸手状态,19～24孕周胎足多可显示,此阶段是胎儿手足畸形最佳检查时机。连续顺序追踪超声法结合弧形旋转法观察胎儿手足,有助于孕早期检出胎儿手足畸形,特别是指(趾)畸形。

Objective To improve the detection rate in diagnosing fetal hand and foot deformity by prenatal ultrasound examination. Methods A total of 12 021 mid-trimester fetuses were performed conventional ultrasound （conventional group）. The fetal humerus and femurs were measured. While 13 424 fetuses were screened, and the fetal limbs systematic continuous sequence approach ultrasound combined with arc rotaryproeess in early medium-term gestation were given as mid-trimester of pregnancy （tracking group）. The fetal hands and feet were carefully observed , and the images with positive findings were saved.The incidence of fetuses of two groups with hand, foot deformity or merger deformity confirmed by delivery or induced labour were retrospectively analyzed, and the ultrasonic detection rate were compared. Results Among 25 445 cases of postpartum or induced labor in these two groups, fetal limb malformations were confirmed in 146 cases ,with 228 places of malformation. The deformity of hand-foot rate was 0. 57% （ 146/25 445 ）. There were single deformity in 26 cases （ 17. 80%, 26/146 ）, multiple deformities in 120 cases （82.20% , 120/146）. Routine screening fetus malformation of the hand-foot was found in the 68 cases （0.57% ,68/12 021 ）, 106 places of malformation; systematic continuous sequence approach fetal malformation of the hand-foot in the 78 cases （0. 58%, 78/13 424）, 122 places of malformation. Two groups were not statistically different （ P 〉 0. 05 ）. The 146 fetuses with hand-foot malformation had eight classes in 228 places, including 33 cases of hands deformity in 44 places ; 3 cases of hand-foot cracki deformity in 8 places; 19 cases of fingers or toe lack, in 23 places; 10 cases of overlapping fingers, in 12 places; 12 cases of fingers bone missed in 25 places; 21 cases of more fingers and toes in 39 places ; 7 cases of merge fingers and toes in 8 places ; 41 case of foot varus in 65 places. The fetal hand-foot malformation in the 18 cases （26.47%, 18/68 ） without fingers and toes deformity, while the tracking screening group detection fetal hand-foot malformation in 55 cases （70.51%, 55/78） , with 38 cases of fingers and toes deformity （63.33% ,38/60） were found by a routine screening, with significant differences betwen the two groups （ P 〈 0.05 ）. Among the 146 fetuses with hand-foot malformation, 89 cases were combined with nerve （26 cases）, circulation （13 cases）, digestion （10 cases）, urinary （10 cases） and skeletal （30 cases） abnormalities （60.96% ,89/146）. In the routine screening group, there were 41 cases of fetus hand-foot malformation with other system malformation, while prenatal uhrasonography diagnosed 22 cases （53. 66%, 22/41 ）. Systematic continuous sequence approach ultrasound combined with arc rotaryprocess group had 48 cases combined with other system malformation, while prenatal ultrasound showed 36 cases （75.00% ,36/48）. The significant differences between the two groups （P 〈0.01 ） were noted. In tracking group, we examined the chromosome of 12 cases, including 4 trisomy-18 and 2, trisomy-21. Conclusions The systematic continuous sequence approach ultrasound combined with arc rotaryproeess has practical value for observing fetal hands and feet. This method can improve the detection rate of hands and feet deformity, especially for finger （toe） deformity.