The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center

Demir, Suleyman Cansun; Sucu, Mete

doi:10.4274/tjod.galenos.2020.60669

The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center

Mete SUCU, (Çukurova University Faculty of Medicine, Department of Obstetrics and Gynecology, Adana, Turkey)

Süleyman Cansun DEMİR (Çukurova University Faculty of Medicine, Department of Obstetrics and Gynecology, Adana, Turkey)

Turkish Journal of Obstetrics and Gynecology

5 0

Yıl: 2020 Cilt: 17 Sayı: 4 Sayfa Aralığı: 46 - 53 Metin Dili: İngilizce DOI: 10.4274/tjod.galenos.2020.60669 İndeks Tarihi: 20-01-2022

The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center

Öz:

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 12th 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.

Anahtar Kelime:

İzole pes ekinovarus ile anöploidiler arasında ilişki ve perinatal sonuçlar: Tersiyer tek merkez sonuçları

Öz:

Amaç: Konjenital pes ekinovarus (PEV), ayağın en sık görülen konjenital deformitesidir, aşırı plantar fleksiyon ile karakterizedir ve 1000 canlı doğumda 2-3 sıklıkla görülür. Gebeliğin 12. haftasından itibaren teşhis etmek mümkündür. İzole olmayan olgular sendromik ve daha karmaşık olma eğilimindedir. Çalışmamızda, perinatal dönemde teşhis edilen izole PEV olgularının sonuçlarını değerlendirmeyi amaçladık. Gereç ve Yöntemler: Çalışmamız Mart 2015-Mart 2020 tarihleri arasında yürütülen retrospektif kohort çalışmasıdır. Rutin fetal anomali taraması için başvuran veya herhangi şüpheli fetal anomali nedeniyle sevk edilen kadınlar, ayrıntılı bir fetal anomali taramasına tabi tutuldu, PEV varlığı ve eşlik eden anomaliler açısından kontrol edildi. PEV saptanan hastalarla karyotip analizi tartışıldı. Kromozom anomalisi veya hayatı tehdit eden anomalisi olanlara gebelik terminasyonu önerildi. Tanı postnatal muayene veya otopsi ile doğrulandı. Postnatal PEV saptanmayanlarda tanı yanlış pozitif olarak kabul edildi. Bulgular: Yüz otuz sekiz hastada PEV saptandı. Kırk biri (%29,7) izole idi. İzole grup içinde, ilk trimesterde yanlış pozitiflik oranı ikinci trimester ile kıyaslandığında anlamlı derecede yüksekti sırasıyla %50 ve %15,3 (p<0,05). İzole grupta 2 (%4,8) hastada kromozomal anomali tespit edildi. Bir (%2,4) hastaya trizomi 21 nedeniyle terminasyon uygulandı. Non-izole grupta 13 (%13,4) hastada kromozom anomalisi saptandı ve terminasyon önerildi. Ayrıca 18 (%18,5) hastaya yaşamla bağdaşmayan anomaliler nedeniyle gebelik termiansyonu önerildi. Postnatal değerlendirmede izole ve non-izole grupta cerrahi tedavi oranı sırası ile %6 ve %39,7 idi ve aradaki fark istatiksel olarak anlamlıydı (p<0,05). Sonuç: PEV teşhisi konduğunda, eşlik eden anomaliler için ayrıntılı bir fetal anomali taraması yapılmalı ve hastalar artan kromozomal anomali riski hakkında bilgilendirilmelidir. Tanı için ilk trimesterdeki yüksek yanlış pozitiflik oranları akılda tutulmalıdır. İzole olgulara da karyotip analizi önerilmelidir. Bazı nöromüsküler ve iskelet sistemi anomalilerinin, izole olgularda ilk kez doğum sonrası dönemde ortaya çıkabileceği hatırlanmalıdır.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	Sucu M, Demir S (2020). The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. , 46 - 53. 10.4274/tjod.galenos.2020.60669
Chicago	Sucu Mete,Demir Suleyman Cansun The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. (2020): 46 - 53. 10.4274/tjod.galenos.2020.60669
MLA	Sucu Mete,Demir Suleyman Cansun The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. , 2020, ss.46 - 53. 10.4274/tjod.galenos.2020.60669
AMA	Sucu M,Demir S The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. . 2020; 46 - 53. 10.4274/tjod.galenos.2020.60669
Vancouver	Sucu M,Demir S The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. . 2020; 46 - 53. 10.4274/tjod.galenos.2020.60669
IEEE	Sucu M,Demir S "The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center." , ss.46 - 53, 2020. 10.4274/tjod.galenos.2020.60669
ISNAD	Sucu, Mete - Demir, Suleyman Cansun. "The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center". (2020), 46-53. https://doi.org/10.4274/tjod.galenos.2020.60669

APA	Sucu M, Demir S (2020). The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. Turkish Journal of Obstetrics and Gynecology, 17(4), 46 - 53. 10.4274/tjod.galenos.2020.60669
Chicago	Sucu Mete,Demir Suleyman Cansun The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. Turkish Journal of Obstetrics and Gynecology 17, no.4 (2020): 46 - 53. 10.4274/tjod.galenos.2020.60669
MLA	Sucu Mete,Demir Suleyman Cansun The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. Turkish Journal of Obstetrics and Gynecology, vol.17, no.4, 2020, ss.46 - 53. 10.4274/tjod.galenos.2020.60669
AMA	Sucu M,Demir S The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. Turkish Journal of Obstetrics and Gynecology. 2020; 17(4): 46 - 53. 10.4274/tjod.galenos.2020.60669
Vancouver	Sucu M,Demir S The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center. Turkish Journal of Obstetrics and Gynecology. 2020; 17(4): 46 - 53. 10.4274/tjod.galenos.2020.60669
IEEE	Sucu M,Demir S "The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center." Turkish Journal of Obstetrics and Gynecology, 17, ss.46 - 53, 2020. 10.4274/tjod.galenos.2020.60669
ISNAD	Sucu, Mete - Demir, Suleyman Cansun. "The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center". Turkish Journal of Obstetrics and Gynecology 17/4 (2020), 46-53. https://doi.org/10.4274/tjod.galenos.2020.60669