Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound

Abstract

This study sought to evaluate the contribution of two-dimensional ultrasound (2D-US) and three-dimensional skeletal imaging ultrasound (3D-SUIS) in the prenatal diagnosis of sirenomelia. Between September 2010 and April 2014, a prospective study was conducted in a single referral center using 3D-SUIS performed after 2D-US in 10 cases of sirenomelia. Diagnostic accuracy and detailed findings were compared with postnatal three-dimensional helical computed tomography (3D-HCT), radiological findings and autopsy. Pregnancy was terminated in all 10 sirenomelia cases, including 9 singletons and 1 conjoined twin pregnancy, for a total of 5 males and 5 females. These cases of sirenomelia were determined by autopsy and/or chromosomal examination. Initial 2D-US showed that there were 10 cases of oligohydramnios, bilateral renal agenesis, bladder agenesis, single umbilical artery, fusion of the lower limbs and spinal abnormalities; 8 cases of dipus or monopus; 2 cases of apus; and 8 cases of cardiac abnormalities. Subsequent 3D-SUIS showed that there were 9 cases of scoliosis, 10 cases of sacrococcygeal vertebra dysplasia, 3 cases of hemivertebra, 1 case of vertebral fusion, 3 cases of spina bifida, and 5 cases of rib abnormalities. 3D-SUIS identified significantly more skeletal abnormalities than did 2D-US, and its accuracy was 79.5% (70/88) compared with 3D-HCT and radiography. 3D-SUIS seems to be a useful complementary method to 2D-US and may improve the accuracy of identifying prenatal skeletal abnormalities related to sirenomelia.

Keywords

sirenomelia / three-dimensional skeletal imaging ultrasound / three-dimensional helical computed tomography

References

[1] CuillierF, MardamootooD, LamarqueM, et al. . Three-dimensional sonography of sirenomelia at 10 and 12 weeks’ gestation. J Ultrasound Med, 2013, 32(9): 1678-680 PMID: 23980232

[2] PillayM, YesodharanD, NarayananDL, et al. . Sirenomelia: case reports and current concepts of pathogenesis. Pediatr Dev Pathol, 2012, 15(5): 403-406 PMID: 22816558

[3] DharmrajM, GaurS. Sirenomelia: a rare case of foetal congenital anomaly. J Clin Neonatol, 2012, 1(4): 221-223 PMCID: 3762055 PMID: 24027732

[4] OnoT, KatsuraD, TsujiS, et al. . Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography. Tohoku J Exp Med, 2011, 225(2): 85-87 PMID: 21892002

[5] SawhneyS, JainR, MekaN. Sirenomelia: MRI appearance. J Postgrad Med, 2006, 52(3): 219-20 PMID: 16855327

[6] RuanoR, MolhoM, RoumeJ, et al. . Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol, 2004, 24(2): 134-140 PMID: 15287049

[7] ValenzanoM, PaolettiR, RossiA, et al. . Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Hum Reprod Update, 1999, 5(1): 82-86

[8] FadhlaouiA, KhroufM, GaigiS, et al. . The sirenomelia sequence: a case history. Clin Med Insights Case Rep, 2010, 3: 41-49 PMCID: 3046016 PMID: 21769253

[9] DasSP, OjhaN, GaneshGS, et al. . Conjoined legs: Sirenomelia or caudal regression syndrome. Indian J Orthop, 2013, 47(4): 413-416 PMCID: 3745698 PMID: 23960288

[10] SathePA, GhodkeRK, KandalkarBM. Sirenomelia with oesophageal atresia: a rare association. J Clin Diagn Res, 2014, 8(2): 163-164 PMCID: 3972546 PMID: 24701519

[11] SamalSK, RathodS. Sirenomelia: The mermaid syndrome: report of two cases. J Nat Sci Biol Med, 2015, 6(1): 264-266 PMCID: 4367057 PMID: 25810681

[12] PatelS, SuchetI. The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia. Ultrasound Obstet Gynecol, 2004, 24(6): 684-691 PMID: 15517539

[13] StockerJT, HeifetzSA. Sirenomelia. A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol, 1987, 10: 7-50

[14] OrioliIM, AmarE, Arteaga-VazquezJ, et al. . Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. Am J Med Genet C Semin Med Genet, 2011, 157(4): 358-373

[15] NisenblatV, LeibovitzZ P B, et al. . Dizygotic twin pregnancy discordant for sirenomelia. J Ultrasound Med, 2007, 26(1): 97-103 PMID: 17182714

[16] TonniG, GrisoliaG. Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus. Arch Gynecol Obstet, 2013, 288(1): 3-11 PMID: 23625330