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

Tuğba Saraç; Selen Gürsoy Erzincan; Lutfiye Uygur; Çiğdem Kunt İşgüder; Savcı Bekir Telek; Recep Has; İbrahim Kalelioğlu

Article Details

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

Authors:

Tuğba Saraç | Selen Gürsoy Erzincan | Lutfiye Uygur | Çiğdem Kunt İşgüder | Savcı Bekir Telek | Recep Has | İbrahim Kalelioğlu

Publisher:

Istanbul University

Main Topics:

Sağlık Kurumları Yönetimi

Journal:

İstanbul Tıp Fakültesi Dergisi Vol.86 Issue 1, pp.37-43

Document Type:

Article

Publication Date:

1/2023

Document Language:

English

Document ID (Org No.):

2001285122

pISSN:

1305-6441

Keywords:

Abstract:

 Objective: An aberrant right subclavian artery ARSA is an aortic arch anomaly isolated or associated with other ultrasound markers andor 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 microdeletionduplication syndrome MMS or PIT was suggested for patients with iARSA. Results: The mean week of gestation was 20.263.93 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,i9p10 in one of 53 were found in non-isolated cases. Additional abnormalities andor 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.

 Objective: An aberrant right subclavian artery ARSA is an aortic arch anomaly isolated or associated with other ultrasound markers andor 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 microdeletionduplication syndrome MMS or PIT was suggested for patients with iARSA. Results: The mean week of gestation was 20.263.93 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,i9p10 in one of 53 were found in non-isolated cases. Additional abnormalities andor 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.

 Objective: An aberrant right subclavian artery ARSA is an aortic arch anomaly isolated or associated with other ultrasound markers andor 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 microdeletionduplication syndrome MMS or PIT was suggested for patients with iARSA. Results: The mean week of gestation was 20.263.93 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,i9p10 in one of 53 were found in non-isolated cases. Additional abnormalities andor 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.

 Amaç: Aberan sağ subklavyen arter ASSA, izole veya diğer ultrason belirteçleri veveya 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, ASSAnın 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 20,263,93 olarak saptanmıştır. Bunlardan 42sinde izole ASSA, 53ünde ise ASSA dışı ek bulgular mevcuttu. İzole olguların hiçbirinde kromozom anomalisi saptanmazken, izole olmayan 53 olgudan, 14ünde Trizomi 21, birinde Trizomi 18, birinde ise 47, XX,i9p10 saptanmıştır. Kromozom anomalisi saptanan fetüslerin tamamında ek anomali veveya 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.

Article Details

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

Authors:

Tuğba Saraç | Selen Gürsoy Erzincan | Lutfiye Uygur | Çiğdem Kunt İşgüder | Savcı Bekir Telek | Recep Has | İbrahim Kalelioğlu

Publisher:

Istanbul University

Main Topics:

Sağlık Kurumları Yönetimi

Journal:

İstanbul Tıp Fakültesi Dergisi Vol.86 Issue 1, pp.37-43

Document Type:

Article

Publication Date:

1/2023

Document Language:

English

Document ID (Org No.):

2001285122

pISSN:

1305-6441

Aberrant right subclavian artery

cell-free DNA

Down syndrome

22q11.2 microdeletion

prenatal diagnosis

Aberan sağ subklavyan arter

Hücre dışı DNA

Down sendromu

Issues

Article Details

Authors: Tuğba Saraç | Selen Gürsoy Erzincan | Lutfiye Uygur | Çiğdem Kunt İşgüder | Savcı Bekir Telek | Recep Has | İbrahim Kalelioğlu

Publisher: Istanbul University

Main Topics: Sağlık Kurumları Yönetimi

Journal: İstanbul Tıp Fakültesi Dergisi Vol.86 Issue 1, pp.37-43

Document Type: Article

Publication Date: 1/2023

Document Language: English

Document ID (Org No.): 2001285122

pISSN: 1305-6441

Issues

Authors:

Tuğba Saraç | Selen Gürsoy Erzincan | Lutfiye Uygur | Çiğdem Kunt İşgüder | Savcı Bekir Telek | Recep Has | İbrahim Kalelioğlu

Publisher:

Istanbul University

Main Topics:

Sağlık Kurumları Yönetimi

Journal:

İstanbul Tıp Fakültesi Dergisi Vol.86 Issue 1, pp.37-43

Document Type:

Article

Publication Date:

1/2023

Document Language:

English

Document ID (Org No.):

2001285122

pISSN:

1305-6441