İZOLE ABERAN SAĞ SUBKLAVYAN ARTER: NONİNVAZİV PRENATAL TESTLERİN VARLIĞINDA PRENATAL TANI İÇİN İNVAZİV GİRİŞİM ÖNERİLMELİ Mİ?

Öz

Amaç: Aberan sağ subklavyen arter (ASSA), izole veya diğer ultrason belirteçleri ve/veya konjenital anomalilere eşlik eden bir aortik ark anomalisidir. Bu çalışmada, prenatal sonografide izole ASSA saptanan olgularda prenatal invaziv test (PIT) gerekliliğinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Mart 2015 ile Şubat 2021 arasında ikinci üçay ultrasonografi değerlendirilmesi yapılan 7690 fetüsten oluşan popülasyonda, ASSA varlığı retrospektif olarak değerlendirildi. ASSA ile birlikte ek konjenital anomalisi olan hastalara PIT önerilirken, ASSA’nın izole olduğu olgularda 22q11.2 mikrodelesyon/ dublikasyon (MMS) dahil hücre dışı DNA (cfDNA) testi veya PIT önerilmiştir. Bulgular: ASSA bulunan 95 fetüste ortalama gebelik haftası 20,26±3,93 olarak saptanmıştır. Bunlardan 42’sinde izole ASSA, 53’ünde ise ASSA dışı ek bulgular mevcuttu. İzole olguların hiçbirinde kromozom anomalisi saptanmazken, izole olmayan 53 olgudan, 14’ünde Trizomi 21, birinde Trizomi 18, birinde ise 47, XX,+i(9)(p10) saptanmıştır. Kromozom anomalisi saptanan fetüslerin tamamında ek anomali ve/veya minor belirteçler eşlik etmekteydi. Sonuç: Prenatal ultrasonografide izole ASSA saptanan olgularda, 22q11.2 MMS da dahil olmak üzere noninvaziv cfDNA testinin yapılması yeterli olabilir. Ancak, ek majör anomali, minör belirteç veya tarama testinde risk artışı varlığında PIT önerilmelidir. Anahtar Kelimeler: Aberran sağ subklavyen arter, hücre dışı DNA, Down sendromu, 22q11 mikrodelesyonu, prenatal tanı, ultrason

Anahtar Kelimeler

• Aberan sağ subklavyan arter
• Hücre dışı DNA
• Down sendromu

Destekleyen Kurum

Yok

Proje Numarası

Yok

Teşekkür

Yok

ISOLATED ABERRANT RIGHT SUBCLAVIAN ARTERY: SHOULD INVASIVE INTERVENTION BE RECOMMENDED IN THE ERA OF NONINVASIVE PRENATAL TESTS?

Öz

Objective: An aberrant right subclavian artery (ARSA) is an aortic arch anomaly isolated or associated with other ultrasound markers and/or congenital anomalies. This study aimed to evaluate the necessity of invasive prenatal tests (PIT) in cases with isolated ARSA (iARSA) in prenatal sonography. Materials and Methods: The presence of ARSA was evaluated retrospectively in 7690 fetuses who underwent a second-trimester ultrasonography evaluation between March 2015 and February 2021. PIT was recommended for patients with non-iARSA. cfDNA test (including 22q11.2 microdeletion/duplication syndrome (MMS) or PIT was suggested for patients with iARSA. Results: The mean week of gestation was 20.26±3.93 in 95 fetuses diagnosed with ARSA. Of the fetuses, fourty-two (44%) had iARSA, and 53 (56%) had additional findings. No chromosomal abnormality was found in any of the isolated cases. Trisomy 21 in 14, Trisomy 18 in one, 47,XX,+i(9)(p10) in one of 53 were found in non-isolated cases. Additional abnormalities and/or soft ultrasound markers were accompanied in all fetuses with chromosomal abnormalities. Conclusion: When iARSA is detected in prenatal ultrasonography, cfDNA testing may be sufficient, including 22q11.2 MMS. However, PIT should be recommended in the presence of structural abnormalities, soft ultrasound markers, or increased risk in the antenatal screening test.

Anahtar Kelimeler

• Aberrant right subclavian artery
• cell-free DNA
• Down syndrome
• 22q11.2 microdeletion
• prenatal diagnosis

Proje Numarası

Yok

Kaynakça

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