The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center/Izole pes ekinovarus ile anoploidiler arasinda iliski ve perinatal sonuclar: Tersiyer tek merkez sonuclari

• Published in: Turkish journal of obstetrics and gynecology Vol. 17; no. 4; p. 270
• Main Authors: Sucu, Mete, Demir, Süleyman Cansun
• Format: Journal Article
• Language: English
• Published: Galenos Yayinevi Tic. Ltd 01.12.2020
• Subjects: Aneuploidy; Clubfoot; Complications and side effects; Diagnosis; Genetic aspects; Risk factors; Turkey
• ISSN: 2149-9322
• DOI: 10.4274/tjod.galenos.2020.60669

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. Keywords: Clubfoot, Down syndrome, diagnostic imaging, karyotyping Amaç: Konjenital pes ekinovarus (PEV), ayagin en sik görülen konjenital deformitesidir, asiri plantar fleksiyon ile karakterizedir ve 1000 canli dogumda 2-3 siklikla görülür. Gebeligin 12. haftasindan itibaren teshis etmek mümkündür. Izole olmayan olgular sendromik ve daha karmasik olma egilimindedir. Çalismamizda, perinatal dönemde teshis edilen izole PEV olgularinin sonuçlarini degerlendirmeyi amaçladik. Gereç ve Yöntemler: Çalismamiz Mart 2015-Mart 2020 tarihleri arasinda yürütülen retrospektif kohort çalismasidir. Rutin fetal anomali taramasi için basvuran veya herhangi süpheli fetal anomali nedeniyle sevk edilen kadinlar, ayrintili bir fetal anomali taramasina tabi tutuldu, PEV varligi ve eslik eden anomaliler açisindan kontrol edildi. PEV saptanan hastalarla karyotip analizi tartisildi. Kromozom anomalisi veya hayati tehdit eden anomalisi olanlara gebelik terminasyonu önerildi. Tani postnatal muayene veya otopsi ile dogrulandi. Postnatal PEV saptanmayanlarda tani yanlis pozitif olarak kabul edildi. Bulgular: Yüz otuz sekiz hastada PEV saptandi. Kirk biri (%29,7) izole idi. Izole grup içinde, ilk trimesterde yanlis pozitiflik orani ikinci trimester ile kiyaslandiginda anlamli derecede yüksekti sirasiyla %50 ve %15,3 (p<0,05). Izole grupta 2 (%4,8) hastada kromozomal anomali tespit edildi. Bir (%2,4) hastaya trizomi 21 nedeniyle terminasyon uygulandi. Non-izole grupta 13 (%13,4) hastada kromozom anomalisi saptandi ve terminasyon önerildi. Ayrica 18 (%18,5) hastaya yasamla bagdasmayan anomaliler nedeniyle gebelik termiansyonu önerildi. Postnatal degerlendirmede izole ve non-izole grupta cerrahi tedavi orani sirasi ile %6 ve %39,7 idi ve aradaki fark istatiksel olarak anlamliydi (p<0,05). Sonuç: PEV teshisi kondugunda, eslik eden anomaliler için ayrintili bir fetal anomali taramasi yapilmali ve hastalar artan kromozomal anomali riski hakkinda bilgilendirilmelidir. Tani için ilk trimesterdeki yüksek yanlis pozitiflik oranlari akilda tutulmalidir. Izole olgulara da karyotip analizi önerilmelidir. Bazi nöromüsküler ve iskelet sistemi anomalilerinin, izole olgularda ilk kez dogum sonrasi dönemde ortaya çikabilecegi hatirlanmalidir. Anahtar Kelimeler: Çarpik ayak, Down sendromu, tanisal görüntüleme, karyotipleme PRECIS: We aimed to evaluate the perinatal and neonatal results of pregnant women who were found to have isolated PEV during the first and second trimester ultrasonographic screening in our clinic.