Öz
The association between first trimester screening test risk category and pregnancy outcomes
Abstract
Aim: It is well known that increased fetal nuchal translucency (NT), presence of fetal anomaly, increased combined test risk is associated with genetic diseases. However, management of the so-called intermediate-risk (1/250-1/2000) group in the first trimester screening test is controversial. Data on pregnancy outcomes of increased fetal NT, presence of fetal anomaly, high- and intermediate-risk groups in the combined test are needed. Therefore, the current study aims to assess the outcomes of fetuses with risk calculation in the first trimester, providing an insight for follow-up and treatment.
Materials and methods: Throughout a 20-month period, 268 pregnancies with first trimester screening test and second trimester fetal examination performed in a single perinatology unit and had subsequent documentation of pregnancy outcomes were included and grouped considering increased NT (3.5 mm and above), presence of fetal anomaly, increased combined test risk. A combined test result >1/250 risk and/or nuchal translucency (NT) ≥ 3.5 mm was considered as high-risk, whereas combined test risk between 1/250-1/2000 was denoted as intermediate-risk. Pregnancy outcomes included fetal genetic results if invasive tests were performed and fetal autopsy in cases of spontaneous or induced terminations. Data were expressed as frequency (n) and percentage (%). Positive predictive values were calculated for first trimester risk categories.
Results: Forty-six out of included 268 pregnancies (17%) had any fetal anomaly on ultrasound (n=18, 39%) or increased combined test risk of >1/2000. Central nervous system defects were the most common anomalies (9/18, 50%). Fetal hydrops had the highest aneuploidy rate (57%). Sonographic screening was normal in 50% (2/4) of fetuses with trisomy 21. Positive predictive value for high- and intermediate-risk was 29.4% and 12.5%, respectively.
Conclusion: Since at least half of the trisomy 21 cases may have no sonographic findings, ultrasound and serum parameters should be evaluated together. The intermediate-risk group merits special attention considering diagnostic and follow-up options, every eight fetus in this group could have an anomaly.
Anahtar Kelimeler
combined test fetal anomaly first trimester screening sonography scan
Kaynakça
- 1. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ. 1992 ;304(6831):867–9.
- 2. Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH. Accuracy of first‐trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound in Obstetrics & Gynecology. 2017 Jun;49(6):714-20.
- 3. Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP. Revisiting the fetal loss rate after second-trimester genetic amniocentesis: A single center’s 16-year experience. Obstet Gynecol. 2008 ;111(3):589–95. 4. Müngen E, Tütüncü L, Muhcu M, Yergök YZ. Pregnancy outcome following second-trimester amniocentesis: A case-control study. Am J Perinatol. 2006;23(1):25–30.
- 5. Seeds JW. Diagnostic mid trimester amniocentesis: How safe? Am J Obstet Gynecol. 2004 ;191(2):607–15. 6. Sahota DS, Leung TY, Chan LW, Law LW, Fung TY, Chen M, et al. Comparison of first-trimester contingent screening strategies for Down syndrome. Ultrasound Obstet Gynecol. 2010 ;35(3):286–91.
- 7. Charoenratana C, Wanapirak C, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, et al. Optimal risk cut-offs for down syndrome contingent maternal serum screening. J Matern Neonatal Med. 2018 17;31(22):3009–13.
- 8. Li SW, Barrett AN, Gole L, Tan WC, Biswas A, Tan HK, et al. The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort. Singapore Med J. 2015 ;56(1):47–52.
- 9. Achiron R, Tadmor O. Screening for fetal anomalies during the first trimester of pregnancy: transvaginal versus transabdominal sonography. Ultrasound Obstet Gynecol. 1991 1;1(3):186–91.
- 10. Achiron R, Achiron A, Yagel S. First trimester transvaginal sonographic diagnosis of Dandy-Walker malformation. J Clin Ultrasound. 1993 ;21(1):62–4. 11. Bronshtein M, Rottem S, Yoffe N, Blumenfeld Z. First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: Diverse prognosis of the septated from the nonseptated lesion. Am J Obstet Gynecol. 1989 ;161(1):78–82.
- 12. Smith-Bindman R, Chu P, Goldberg JD. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn. 2007 ;27(6):535–44.
- 13. Uzun I, Sayin C, Erzincan S, Inan C, Sutcu H, Varol F. Analysis of antenatal sonographic features of the fetuses with trisomy 21. Iran J Radiol. 2018 24;15(2).
Öz
İlk trimester tarama testi risk kategorilerinin gebelik sonuçları ile ilişkisi
Özet
Amaç: İlk trimester tarama testinde nukal saydamlık (NT) artışının, fetal anomali varlığının ve kombine testte risk artışının genetik hastalıklarla ilişkisi bilinmektedir. Ancak, kombine testte 1/250-1/2000 olarak belirlenen orta riskli grubun yönetimi tartışma konusudur. NT artışının, fetal anomali varlığının ve kombine testte yüksek ve orta risk gruplarının gebelik sonuçlarına dair veriye ihtiyaç duyulmaktadır. Buna dayanarak mevcut araştırmada, ilk trimesterde patolojik bulgu saptanan fetüslerin gebelik sonuçlarının değerlendirilerek, takip ve tedaviye yönelik sonuçlara varılması amaçlanmıştır.
Gereç-yöntem: Yirmi aylık dönemde ilk trimester tarama testi ve ikinci trimester ayrıntılı fetal muayenesi tek bir perinatoloji ünitesinde tamamlanmış ve gebelik sonucu dökümante edilmiş 268 gebe çalışmaya dahil edildi ve fetal anomali varlığı, NT artışı (3.5 mm ve üzeri) ve kombine testte risk artışı olarak gruplara ayrıldı. Yüksek risk, kombine test riski 1/250 üzerinde ve/veya NT 3.5 mm üzerinde olması; orta risk ise kombine test riski 1/250-1/2000 arasında saptanması olarak kabul edildi. İnvaziv test uygulanan gebeliklerin fetal genetik sonuçlarına, spontan veya indüklenmiş terminasyonların ise fetal otopsi ve genetik sonuçlarına ulaşıldı. Veriler frekans (n) ve yüzde (%) olarak değerlendirildi. İlk trimester tarama testi için pozitif prediktif değer (PPD) hesaplamaları yapıldı.
Bulgular: Çalışmaya alınan 268 tekil gebeliğin 46’sında (%17) sonografide anomali (n=18, %39) veya kombine test tarama sonucunda >1/2000 risk artışı (n=28, %61) saptandı. Merkezi sinir sistemi anomalileri en sık saptanan anomaliydi (9/18, %50). Anöploidi oranı en yüksek (%57) patoloji hidrops fetalis idi. Trizomi 21 saptanan fetüslerin %50’sinde (2/4) sonografik taramalar normaldi. Kombine testte yüksek ve orta riskin pozitif prediktif değeri sırası ile %29.4 ve %12.5 olarak hesaplandı.
Sonuç: Trizomi 21 olgularının en az yarısında sonografik bulgu olmayabileceğinden, ultrason ve serum parametreleri kombine olarak ele alınmalıdır. Kombine testte orta riskli her 8 fetüsün birinde genetik anomali saptanabileceğinden, bu gruptaki gebeler için ileri tanı ve takip seçenekleri dikkatli şekilde planlanmalıdır.
Anahtar Kelimeler
Kaynakça
- 1. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ. 1992 ;304(6831):867–9.
- 2. Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH. Accuracy of first‐trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound in Obstetrics & Gynecology. 2017 Jun;49(6):714-20.
- 3. Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP. Revisiting the fetal loss rate after second-trimester genetic amniocentesis: A single center’s 16-year experience. Obstet Gynecol. 2008 ;111(3):589–95. 4. Müngen E, Tütüncü L, Muhcu M, Yergök YZ. Pregnancy outcome following second-trimester amniocentesis: A case-control study. Am J Perinatol. 2006;23(1):25–30.
- 5. Seeds JW. Diagnostic mid trimester amniocentesis: How safe? Am J Obstet Gynecol. 2004 ;191(2):607–15. 6. Sahota DS, Leung TY, Chan LW, Law LW, Fung TY, Chen M, et al. Comparison of first-trimester contingent screening strategies for Down syndrome. Ultrasound Obstet Gynecol. 2010 ;35(3):286–91.
- 7. Charoenratana C, Wanapirak C, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, et al. Optimal risk cut-offs for down syndrome contingent maternal serum screening. J Matern Neonatal Med. 2018 17;31(22):3009–13.
- 8. Li SW, Barrett AN, Gole L, Tan WC, Biswas A, Tan HK, et al. The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort. Singapore Med J. 2015 ;56(1):47–52.
- 9. Achiron R, Tadmor O. Screening for fetal anomalies during the first trimester of pregnancy: transvaginal versus transabdominal sonography. Ultrasound Obstet Gynecol. 1991 1;1(3):186–91.
- 10. Achiron R, Achiron A, Yagel S. First trimester transvaginal sonographic diagnosis of Dandy-Walker malformation. J Clin Ultrasound. 1993 ;21(1):62–4. 11. Bronshtein M, Rottem S, Yoffe N, Blumenfeld Z. First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: Diverse prognosis of the septated from the nonseptated lesion. Am J Obstet Gynecol. 1989 ;161(1):78–82.
- 12. Smith-Bindman R, Chu P, Goldberg JD. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn. 2007 ;27(6):535–44.
- 13. Uzun I, Sayin C, Erzincan S, Inan C, Sutcu H, Varol F. Analysis of antenatal sonographic features of the fetuses with trisomy 21. Iran J Radiol. 2018 24;15(2).
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Araştırma Makaleleri |
| Yazarlar | |
| Yayımlanma Tarihi | 7 Temmuz 2021 |
| Gönderilme Tarihi | 21 Eylül 2020 |
| Kabul Tarihi | 25 Kasım 2020 |
| Yayımlandığı Sayı | Yıl 2021 |