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Archives of Gynecology and Obstetrics

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01-10-2017 | Review

Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for other major defects and pregnancy complications

Authors: Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann

Published in: Archives of Gynecology and Obstetrics | Issue 4/2017

Abstract

Purpose

First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications.

Methods

A search of the Medline and Embase databases was done looking for articles about first trimester screening. We performed a detailed review of the literature to evaluate the screening tests currently available and their respective test performance.

Results

The detailed ultrasound examination results in the detection of about half of major structural defects, determination of a very accurate gestational age, and identification of multiple pregnancies as well as their chorionicity. In addition, risk assessment for preeclampsia and early IUGR can be established at this stage. In case of an increased risk, the daily use of low-dose aspirin can be offered at a point in pregnancy when it still can have a positive impact. Additional screening tests for gestational diabetes and macrosomia are available.

Conclusion

Contemporary first trimester screening is essential to establish an individual risk profile and can be used to tailor the pregnancy care.

Nicolaides KH (2011) A model for a new pyramid of prenatal care based on the 11 to 13 weeks’ assessment. Prenat Diagn 31:3–6. doi:10.1002/pd.2685 CrossRefPubMed

Rossi AC, Prefumo F (2013) Accuracy of ultrasonography at 11–14 weeks of gestation for detection of fetal structural anomalies: a systematic review—PubMed—NCBI. Obstet Gynecol 122:1160–1167. doi:10.1097/AOG.0000000000000015 CrossRefPubMed

Salomon LJ, Alfirevic Z, Bilardo CM et al (2013) ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 41:102–113. doi:10.1002/uog.12342 CrossRefPubMed

von Kaisenberg C, Chaoui R, Häusler M et al (2016) Quality requirements for the early fetal ultrasound assessment at 11–13 + 6 weeks of gestation (DEGUM levels II and III). Ultraschall Med 37:297–302. doi:10.1055/s-0042-105514 CrossRef

Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT (2016) Systematic review of first trimester ultrasound screening in detecting fetal structural anomalies and factors affecting screening performance. Ultrasound Obstet Gynecol. doi:10.1002/uog.17246 PubMed

Syngelaki A, Chelemen T, Dagklis T et al (2011) Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 31:90–102. doi:10.1002/pd.2642 CrossRefPubMed

Becker R, Wegner RD (2006) Detailed screening for fetal anomalies and cardiac defects at the 11–13-week scan. Ultrasound Obstet Gynecol 27:613–618. doi:10.1002/uog.2709 CrossRefPubMed

Kenkhuis MJA, Bakker M, Bardi F et al (2017) Yield of a 12–13 week scan for the early diagnosis of fetal congenital anomalies in the cell-free DNA era. Ultrasound Obstet Gynecol. doi:10.1002/uog.17487 PubMed

Baer RJ, Norton ME, Shaw GM et al (2014) Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Am J Obstet Gynecol 211(675):e1–e19. doi:10.1016/j.ajog.2014.06.025

10.

Bilardo CM, Müller MA, Pajkrt E et al (2007) Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 30:11–18. doi:10.1002/uog.4044 CrossRefPubMed

11.

Souka AP, Von Kaisenberg CS, Hyett JA et al (2005) Increased nuchal translucency with normal karyotype. YMOB 192:1005–1021. doi:10.1016/j.ajog.2004.12.093

12.

Fuchs IB, Müller H, Abdul Khaliq H et al (2007) Immediate and long-term outcomes in children with prenatal diagnosis of selected isolated congenital heart defects. Ultrasound Obstet Gynecol 29:38–43. doi:10.1002/uog.3900 CrossRefPubMed

13.

Llurba E, Syngelaki A, Sánchez O et al (2013) Maternal serum placental growth factor at 11–13 weeks’ gestation and fetal cardiac defects. Ultrasound Obstet Gynecol 42:169–174. doi:10.1002/uog.12346 CrossRefPubMed

14.

Borelli M, Baer RJ, Chambers CD et al (2016) Critical congenital heart defects and abnormal levels of routinely collected first- and second-trimester biomarkers. Am J Med Genet 173:368–374. doi:10.1002/ajmg.a.38013 CrossRefPubMed

15.

Chelemen T, Syngelaki A, Maiz N et al (2011) Contribution of ductus venosus Doppler in first-trimester screening for major cardiac defects. Fetal Diagn Ther 29:127–134. doi:10.1159/000322138 CrossRefPubMed

16.

Atzei A, Gajewska K, Huggon IC et al (2005) Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol 26:154–157. doi:10.1002/uog.1936 CrossRefPubMed

17.

Pereira S, Ganapathy R, Syngelaki A et al (2011) Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects. Obstet Gynecol 117:1384–1391. doi:10.1097/AOG.0b013e31821aa720 CrossRefPubMed

18.

Persico N, Moratalla J, Lombardi CM et al (2011) Fetal echocardiography at 11–13 weeks by transabdominal high-frequency ultrasound. Ultrasound Obstet Gynecol 37:296–301. doi:10.1002/uog.8934 CrossRefPubMed

19.

Wiechec M, Knafel A, Nocun A (2015) Prenatal detection of congenital heart defects at the 11- to 13-week scan using a simple color Doppler protocol including the 4-chamber and 3-vessel and trachea views. J Ultrasound Med 34:585–594. doi:10.7863/ultra.34.4.585 CrossRefPubMed

20.

Domröse CM, Bremer S, Buczek C et al (2016) Termination of pregnancy after prenatal diagnosis of spina bifida: a German perspective. Arch Gynecol Obstet 294:731–737. doi:10.1007/s00404-016-4032-y CrossRefPubMed

21.

Chaoui R, Benoit B, Mitkowska Wozniak H et al (2009) Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11–13-week scan. Ultrasound Obstet Gynecol 34:249–252. doi:10.1002/uog.7329 CrossRefPubMed

22.

Maruotti GM, Saccone G, D’Antonio F et al (2016) Diagnostic accuracy of intracranial translucency in detecting spina bifida: a systematic review and meta-analysis. Prenat Diagn 36:991–996. doi:10.1002/pd.4883 CrossRefPubMed

23.

Chen F, Gerhardt J, Entezami M et al (2017) Detection of spina bifida by first trimester screening—results of the prospective multicenter Berlin IT-study. Ultraschall Med 38:151–157. doi:10.1055/s-0034-1399483 PubMed

24.

Engels AC, Joyeux L, Brantner C et al (2016) Sonographic detection of central nervous system defects in the first trimester of pregnancy. Prenat Diagn 36:266–273. doi:10.1002/pd.4770 CrossRefPubMed

25.

Khalil A, Coates A, Papageorghiou A et al (2013) Biparietal diameter at 11–13 weeks’ gestation in fetuses with open spina bifida. Ultrasound Obstet Gynecol 42:409–415. doi:10.1002/uog.12420 PubMed

26.

Volpe P, Contro E, Fanelli T et al (2016) Appearance of fetal posterior fossa at 11–14 weeks in fetuses with Dandy–Walker malformation or chromosomal anomalies. Ultrasound Obstet Gynecol 47:720–725. doi:10.1002/uog.14883 CrossRefPubMed

27.

Martinez-Ten P, Illescas T, Adiego B et al (2017) Non-visualization of choroid plexus of the fourth ventricle as a first-trimester predictor of posterior fossa anomalies and chromosomal defects: a three‐dimensional ultrasound study—PubMed—NCBI. Ultrasound Obstet Gynecol. doi:10.1002/uog.17445 PubMed

28.

Maarse W, Rozendaal AM, Pajkrt E et al (2012) A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? J Med Genet 49:490–498. doi:10.1136/jmedgenet-2012-101013 CrossRefPubMed

29.

Sepulveda W, Wong AE, Martinez-Ten P, Perez-Pedregosa J (2010) Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester. Ultrasound Obstet Gynecol 35:7–13. doi:10.1002/uog.7484 CrossRefPubMed

30.

Chaoui R, Orosz G, Heling KS et al (2015) Maxillary gap at 11–13 weeks’ gestation: marker of cleft lip and palate. Ultrasound Obstet Gynecol 46:665–669. doi:10.1002/uog.15675 CrossRefPubMed

31.

Hoopmann M, Sonek J, Esser T et al (2016) Frontal space distance in facial clefts and retrognathia at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 48:171–176. doi:10.1002/uog.15823 CrossRefPubMed

32.

Rempen A, Chaoui R, Häusler M et al (2016) Quality requirements for ultrasound examination in early pregnancy (DEGUM level I) between 4 + 0 and 13 + 6 weeks of gestation. Ultraschall Med 37:579–583. doi:10.1055/s-0042-115581 CrossRefPubMed

33.

Napolitano R, Dhami J, Ohuma EO et al (2014) Pregnancy dating by fetal crown–rump length: a systematic review of charts. BJOG Int J Obstet Gynaecol 121:556–565. doi:10.1111/1471-0528.12478 CrossRef

34.

Francisco C, Wright D, Benkő Z et al (2017) Hidden high rate of preeclampsia in twin compared to singleton pregnancies. Ultrasound Obstet Gynecol. doi:10.1002/uog.17470

35.

Sebire NJ, Snijders RJ, Hughes K et al (1997) The hidden mortality of monochorionic twin pregnancies. Br J Obstet Gynaecol 104:1203–1207CrossRefPubMed

36.

Lewi L, Gucciardo L, Van Mieghem T et al (2010) Monochorionic diamniotic twin pregnancies: natural history and risk stratification. Fetal Diagn Ther 27:121–133. doi:10.1159/000313300 CrossRefPubMed

37.

Khalil A, Rodgers M, Baschat A et al (2016) ISUOG practice guidelines: role of ultrasound in twin pregnancy. Ultrasound Obstet Gynecol 47:247–263. doi:10.1002/uog.15821 CrossRefPubMed

38.

Sepulveda W, Sebire NJ, Hughes K et al (1996) The lambda sign at 10–14 weeks of gestation as a predictor of chorionicity in twin pregnancies. Ultrasound Obstet Gynecol 7:421–423. doi:10.1046/j.1469-0705.1996.07060421.x CrossRefPubMed

39.

Kagan KO, Gazzoni A, Sepulveda-Gonzalez G et al (2007) Discordance in nuchal translucency thickness in the prediction of severe twin-to-twin transfusion syndrome. Ultrasound Obstet Gynecol 29:527–532. doi:10.1002/uog.4006 CrossRefPubMed

40.

Matias A, Montenegro N, Severo M (2010) Screening for twin-twin transfusion syndrome at 11–14 weeks of pregnancy: the key role of ductus venosus blood flow assessment. Ultrasound Obstet Gynecol 35:142–148. doi:10.1002/uog.7533 CrossRefPubMed

41.

Thilaganathan B (2017) Placental syndromes: getting to the heart of the matter. Ultrasound Obstet Gynecol 49:7–9. doi:10.1002/uog.17378 CrossRefPubMed

42.

Mol BWJ, Roberts CT, Thangaratinam S et al (2016) Pre-eclampsia. Lancet 387:999–1011. doi:10.1016/S0140-6736(15)00070-7 CrossRefPubMed

43.

Roberge S, Odibo AO, Bujold E (2016) Aspirin for the prevention of preeclampsia and intrauterine growth restriction. Clin Lab Med 36:319–329. doi:10.1016/j.cll.2016.01.013 CrossRefPubMed

44.

O’Gorman N, Wright D, Poon LC et al (2017) Multicenter screening for preeclampsia by maternal factors and biomarkers at 11–13 weeks’ gestation: comparison to NICE guidelines and ACOG recommendations. Ultrasound Obstet Gynecol. doi:10.1002/uog.17455

45.

Scazzocchio E, Crovetto F, Triunfo S et al (2017) Validation of a first-trimester screening model for pre-eclampsia in an unselected population. Ultrasound Obstet Gynecol 49:188–193. doi:10.1002/uog.15982 CrossRefPubMed

46.

Park F, Russo K, Williams P et al (2015) Prediction and prevention of early-onset pre-eclampsia: impact of aspirin after first-trimester screening. Ultrasound Obstet Gynecol 46:419–423. doi:10.1002/uog.14819 CrossRefPubMed

47.

O’Gorman N, Wright D, Poon LC et al (2017) Accuracy of competing-risks model in screening for pre-eclampsia by maternal factors and biomarkers at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 49:751–755. doi:10.1002/uog.17399 CrossRefPubMed

48.

Wright D, Akolekar R, Syngelaki A et al (2012) A competing risks model in early screening for preeclampsia. Fetal Diagn Ther 32:171–178. doi:10.1159/000338470 CrossRefPubMed

49.

Poon LC, Nicolaides KH (2014) First-trimester maternal factors and biomarker screening for preeclampsia. Prenat Diagn 34:618–627. doi:10.1002/pd.4397 PubMed

50.

Rolnik DL, Wright D, Poon LC et al (2017) Aspirin versus placebo in pregnancies at high risk for preterm preeclampsia. N Engl J Med NEJMoa. doi:10.1056/NEJMoa1704559

51.

Roberge S, Nicolaides K, Demers S et al (2017) The role of aspirin dose on the prevention of preeclampsia and fetal growth restriction: systematic review and meta-analysis. Am J Obstet Gynecol 216(110–120):e6. doi:10.1016/j.ajog.2016.09.076

52.

Irgens HU, Reisaeter L, Irgens LM, Lie RT (2001) Long term mortality of mothers and fathers after pre-eclampsia: population based cohort study. BMJ 323:1213–1217CrossRefPubMedPubMedCentral

53.

Nardozza LMM, Caetano ACR, Zamarian ACP et al (2017) Fetal growth restriction: current knowledge. Arch Gynecol Obstet 295:1061–1077. doi:10.1007/s00404-017-4341-9 CrossRefPubMed

54.

Poon LCY, Syngelaki A, Akolekar R et al (2013) Combined screening for preeclampsia and small for gestational age at 11–13 weeks. Fetal Diagn Ther 33:16–27. doi:10.1159/000341712 CrossRefPubMed

55.

Bujold E, Roberge S, Lacasse Y et al (2010) Prevention of preeclampsia and intrauterine growth restriction with aspirin started in early pregnancy: a meta-analysis. Obstet Gynecol 116:402–414. doi:10.1097/AOG.0b013e3181e9322a CrossRefPubMed

56.

Kagan KO, Sonek J (2015) How to measure cervical length. Ultrasound Obstet Gynecol 45:358–362. doi:10.1002/uog.14742 CrossRefPubMed

57.

Greco E, Gupta R, Syngelaki A et al (2012) First-trimester screening for spontaneous preterm delivery with maternal characteristics and cervical length. Fetal Diagn Ther 31:154–161. doi:10.1159/000335686 CrossRefPubMed

58.

Retzke JD, Sonek JD, Lehmann J et al (2013) Comparison of three methods of cervical measurement in the first trimester: single-line, two-line, and tracing. Prenat Diagn 33:262–268. doi:10.1002/pd.4056 CrossRefPubMed

59.

Syngelaki A, Pastides A, Kotecha R et al (2015) First-trimester screening for gestational diabetes mellitus based on maternal characteristics and history. Fetal Diagn Ther 38:14–21. doi:10.1159/000369970 CrossRefPubMed

60.

Nanda S, Akolekar R, Sarquis R et al (2011) Maternal serum adiponectin at 11 to 13 weeks of gestation in the prediction of macrosomia. Prenat Diagn 31:479–483. doi:10.1002/pd.2723 CrossRefPubMed

61.

Frick AP, Syngelaki A, Zheng M et al (2016) Prediction of large-for-gestational-age neonates: screening by maternal factors and biomarkers in the three trimesters of pregnancy. Ultrasound Obstet Gynecol 47:332–339. doi:10.1002/uog.15780 CrossRefPubMed

62.

Syngelaki A, Nicolaides KH, Balani J et al (2016) Metformin versus placebo in obese pregnant women without diabetes mellitus. N Engl J Med 374:434–443. doi:10.1056/NEJMoa1509819 CrossRefPubMed

63.

Revello MG, Tibaldi C, Masuelli G et al (2015) Prevention of primary cytomegalovirus infection in pregnancy. EBIOM 2:1205–1210. doi:10.1016/j.ebiom.2015.08.003 CrossRef

64.

Kagan KO, Hamprecht K (2017) Cytomegalovirus infection in pregnancy. Arch Gynecol Obstet 296:15–26. doi:10.1007/s00404-017-4380-2 CrossRefPubMed

Title: Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for other major defects and pregnancy complications
Authors: Karl Oliver Kagan
Jiri Sonek
Philipp Wagner
Markus Hoopmann
Publication date: 01-10-2017
Publisher: Springer Berlin Heidelberg
Published in: Archives of Gynecology and Obstetrics / Issue 4/2017
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-017-4460-3

At a glance: The STEP trials

Springer Medicine

Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for other major defects and pregnancy complications

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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