Shipp T D, Benacerraf B R
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Harvard Medical School, Boston, USA.
Am J Obstet Gynecol. 1998 Mar;178(3):600-2. doi: 10.1016/s0002-9378(98)70445-4.
Our purpose was to determine the significance of finding an isolated clubfoot on a prenatal sonogram.
All fetuses found to have an isolated congenital clubfoot over a 9-year period were retrospectively identified. Fetuses with associated anomalies were excluded. Review of medical records for obstetric and neonatal outcome and pathologic and cytogenic results were tabulated.
Eighty-seven fetuses were identified from our database as having isolated clubfoot on prenatal ultrasonography, with complete follow-up available for 68 fetuses. Sixty of the 68 fetuses were confirmed as having clubfoot after delivery (false-positive rate = 11.8%). The male/female ratio was 2:1. Four fetuses (5.9%) had abnormal karyotypes: 47,XXY, 47,XXX, trisomy 18, and trisomy 21. Nine fetuses had hip or other limb abnormalities noted after birth. Other anomalies not detected until delivery included a unilateral undescended testis, ventriculoseptal defects (n = 2), hypospadias (n = 2), early renal dysplasia, mild posterior urethral valves, and a two-vessel cord. Five of the 68 patients (including those with aneuploidy) had pregnancy terminations. Eleven patients were delivered preterm.
Karyotypic evaluation is recommended when isolated clubfoot is identified on prenatal sonogram because other subtle associated malformations may not be detected ultrasonographically in the early second trimester.
我们的目的是确定产前超声检查发现孤立性马蹄内翻足的意义。
回顾性确定在9年期间所有被发现患有孤立性先天性马蹄内翻足的胎儿。排除伴有其他异常的胎儿。整理产科和新生儿结局的病历回顾以及病理和细胞遗传学结果。
从我们的数据库中确定87例胎儿在产前超声检查中患有孤立性马蹄内翻足，其中68例胎儿有完整的随访资料。68例胎儿中有60例在出生后被确诊为马蹄内翻足（假阳性率=11.8%）。男女比例为2:1。4例胎儿（5.9%）有异常核型：47,XXY、47,XXX、18三体和21三体。9例胎儿在出生后发现有髋关节或其他肢体异常。直到分娩时才检测到的其他异常包括单侧隐睾、室间隔缺损（2例）、尿道下裂（2例）、早期肾发育不良、轻度后尿道瓣膜和双血管脐带。68例患者中有5例（包括非整倍体患者）终止妊娠。11例患者早产。
当产前超声检查发现孤立性马蹄内翻足时，建议进行核型评估，因为在孕中期早期可能无法通过超声检测到其他细微的相关畸形。
