The Relationship Between Isolated Pes Equinovarus and Aneuploidies and Perinatal Outcomes: Results of a Tertiary Center

Overview

Journal Turk J Obstet Gynecol

Specialty Gynecology & Obstetrics

Date 2020 Dec 21

PMID 33343973

Citations 3

Authors

Mete Sucu

Suleyman Cansun Demir

Affiliations

Soon will be listed here.

Abstract

Objective: Congenital pes equinovarus (PEV) is the most common congenital deformity of the foot, characterized by plantar flexion with a frequency of 0.2-0.3%. It can be diagnosed from the 12 week of pregnancy. Non-isolated cases tend to be syndromic and complex. We aimed to evaluate the results of perinatally diagnosed isolated PEV.

Materials And Methods: This was a retrospective cohort study conducted between March 2015-March 2020. Women who presented for fetal anomaly screening or were referred due to any suspected fetal anomaly were subjected to detailed fetal anomaly scans and checked for the presence of PEV. Karyotype analysis was discussed for patients with PEV. Pregnancy termination was recommended for those with chromosomal/life-threatening anomalies. The diagnosis was confirmed by postnatal examination/autopsy. Postnatal diagnosis was accepted as false-positive in those with no PEV.

Results: One-hundred thirty-eight patients were found to have PEV, 41 (29.7%) of which were isolated. In the isolated group, the false-positive rate in the first trimester was significantly higher compared with the second trimester, 50%/15.3%, respectively (p<0.05). Chromosomal anomalies were detected in 2 (4.8%) patients in the isolated group. Termination was performed to 1 (2.4%) patients due to trisomy 21. In the non-isolated group, chromosomal anomalies were detected in 13 (13.4%) patients, and termination was recommended. Termination was also recommended to 18 (18.5%) patients due to anomalies incompatible with life. In the postnatal evaluation, the surgical treatment rate in the isolated/non-isolated groups was 6%/39.7% (p<0.05).

Conclusion: When PEV is diagnosed, detailed fetal anomaly screening must be performed, patients should be informed about the chromosomal anomaly risk. High false-positive rates in the first trimester should be kept in mind for diagnosis. Karyotype analysis should be recommended also to isolated cases. It should be remembered that some neuromuscular/skeletal system anomalies may occur for the first time in the postnatal period in isolated cases.

Citing Articles

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?.

Leyne E, Anselem O, Jordan P, Vivanti A, Benachi A, Salomon L Acta Obstet Gynecol Scand. 2023; 103(1):51-58.

PMID: 37942915 PMC: 10755119. DOI: 10.1111/aogs.14716.

Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study.

Huang R, Yang X, Zhou H, Fu F, Cheng K, Wang Y Genes (Basel). 2022; 13(9).

PMID: 36140741 PMC: 9498837. DOI: 10.3390/genes13091573.

Prenatal Diagnosis of Clubfoot: Where Are We Now? Systematic Review and Meta-Analysis.

Ruzzini L, De Salvatore S, Longo U, Marino M, Greco A, Piergentili I Diagnostics (Basel). 2021; 11(12).

PMID: 34943470 PMC: 8700252. DOI: 10.3390/diagnostics11122235.

References

Pavone V, Chisari E, Vescio A, Lucenti L, Sessa G, Testa G . The etiology of idiopathic congenital talipes equinovarus: a systematic review. J Orthop Surg Res. 2018; 13(1):206. PMC: 6104023. DOI: 10.1186/s13018-018-0913-z. View

Menke D, Guenther C, Kingsley D . Dual hindlimb control elements in the Tbx4 gene and region-specific control of bone size in vertebrate limbs. Development. 2008; 135(15):2543-53. DOI: 10.1242/dev.017384. View

Sharon-Weiner M, Sukenik-Halevy R, Tepper R, Fishman A, Biron-Shental T, Markovitch O . Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography. Prenat Diagn. 2017; 37(8):754-763. DOI: 10.1002/pd.5077. View

Mammen L, Benson C . Outcome of fetuses with clubfeet diagnosed by prenatal sonography. J Ultrasound Med. 2004; 23(4):497-500. DOI: 10.7863/jum.2004.23.4.497. View

Shipp T, Benacerraf B . The significance of prenatally identified isolated clubfoot: is amniocentesis indicated?. Am J Obstet Gynecol. 1998; 178(3):600-2. DOI: 10.1016/s0002-9378(98)70445-4. View

Yang H, Zheng Z, Cai H, Li H, Ye X, Zhang X . Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. Hum Genet. 2016; 135(10):1181-9. DOI: 10.1007/s00439-016-1701-7. View

Cohen-Overbeek T, Grijseels E, Lammerink E, Hop W, Wladimiroff J, Diepstraten A . Congenital talipes equinovarus: comparison of outcome between a prenatal diagnosis and a diagnosis after delivery. Prenat Diagn. 2006; 26(13):1248-53. DOI: 10.1002/pd.1596. View

Lauson S, Alvarez C, Patel M, Langlois S . Outcome of prenatally diagnosed isolated clubfoot. Ultrasound Obstet Gynecol. 2010; 35(6):708-14. DOI: 10.1002/uog.7558. View

Sanzarello I, Nanni M, Faldini C . The clubfoot over the centuries. J Pediatr Orthop B. 2017; 26(2):143-151. DOI: 10.1097/BPB.0000000000000350. View

10.

Bogers H, Rifouna M, Cohen-Overbeek T, Koning A, Willemsen S, van der Spek P . First trimester physiological development of the fetal foot position using three-dimensional ultrasound in virtual reality. J Obstet Gynaecol Res. 2018; 45(2):280-288. PMC: 6587499. DOI: 10.1111/jog.13862. View

11.

Lochmiller C, Johnston D, Scott A, Risman M, Hecht J . Genetic epidemiology study of idiopathic talipes equinovarus. Am J Med Genet. 1998; 79(2):90-6. View

12.

Woodrow N, Tran T, Umstad M, Graham H, Robinson H, de Crespigny L . Mid-trimester ultrasound diagnosis of isolated talipes equinovarus: accuracy and outcome for infants. Aust N Z J Obstet Gynaecol. 1998; 38(3):301-5. DOI: 10.1111/j.1479-828x.1998.tb03071.x. View

13.

Ester A, Weymouth K, Burt A, Wise C, Scott A, Gurnett C . Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Am J Med Genet A. 2009; 149A(12):2745-52. PMC: 2795347. DOI: 10.1002/ajmg.a.33130. View

14.

Keret D, Ezra E, Lokiec F, Hayek S, Segev E, Wientroub S . Efficacy of prenatal ultrasonography in confirmed club foot. J Bone Joint Surg Br. 2002; 84(7):1015-9. DOI: 10.1302/0301-620x.84b7.12689. View

15.

Viaris de le Segno B, Gruchy N, Bronfen C, Dolley P, Leporrier N, Creveuil C . Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center. J Clin Ultrasound. 2015; 44(2):100-5. DOI: 10.1002/jcu.22275. View

16.

Tegnander E, Eik-Nes S . The examiner's ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination. Ultrasound Obstet Gynecol. 2006; 28(1):8-14. DOI: 10.1002/uog.2804. View

17.

Ganesan B, Luximon A, Al-Jumaily A, Balasankar S, Naik G . Ponseti method in the management of clubfoot under 2 years of age: A systematic review. PLoS One. 2017; 12(6):e0178299. PMC: 5478104. DOI: 10.1371/journal.pone.0178299. View

18.

Dolk H, Jentink J, Loane M, Morris J, de Jong-van den Berg L . Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations?. Neurology. 2008; 71(10):714-22. DOI: 10.1212/01.wnl.0000316194.98475.d8. View

19.

Mahan S, Yazdy M, Kasser J, Werler M . Prenatal screening for clubfoot: what factors predict prenatal detection?. Prenat Diagn. 2014; 34(4):389-93. PMC: 4028147. DOI: 10.1002/pd.4320. View

20.

Basit S, Khoshhal K . Genetics of clubfoot; recent progress and future perspectives. Eur J Med Genet. 2017; 61(2):107-113. DOI: 10.1016/j.ejmg.2017.09.006. View