Das fetale Profil im ersten Trimenon – mehr als nur NT

Zusammenfassung

Das midsagittale Profil stellt eine Schlüsselebene im Rahmen der sonografischen Ersttrimesterdiagnostik im Zeitraum 11 + 0 bis 13 + 6 SSW dar. Es handelt sich um die zurzeit am besten qualitätsgesicherte pränatale Bildeinstellung. Dem ursprünglichen Zweck der korrekten Messung der Nackentransparenz zur Risikoanalyse auf Aneuploidien konnten in den letzten Jahren zahlreiche zusätzliche Aspekte der fetalen Fehlbildungsdiagnostik hinzugefügt werden. So lassen sich aus dem fetalen Profil neben dem Risiko für Chromosomenstörungen Hinweise auf Neuralrohrdefekte, ZNS-Fehlbildungen insbesondere im Bereich der Fossa posterior und Gesichtsfehlbildungen wie eine Spaltbildung oder eine Retrogenie ableiten. Durch die zunehmende Neuorientierung des Ersttrimesterscreenings im Kontext der zellfreien fetalen DNA-Analyse erlangt die strukturelle Fehlbildungsdiagnostik ein besonderes Gewicht. Ziel der vorliegenden Übersichtsarbeit ist es, den aktuellen Stand zum diagnostischen Potenzial des midsagittalen Schnittbildes des fetalen Profils darzustellen.

Abstract

The midsagittal view of the fetal profile is essential in first trimester screening at 11 + 0 to 13 + 6 weeks of gestation. None of the standard sections in prenatal medicine is as well defined and undergoes such a strong quality assurance program. These requirements were recently challenged by the introduction of cell-free DNA screening. The fetal profile view was previously only needed for the appropriate measurement of the fetal nuchal translucency thickness. In recent years, it became evident that there are many more anomalies or markers for fetal defects that can be seen in this section such as spina bifida, facial clefts or retrognathia. The aim of this review is to summarize the additional information that can be gained from the fetal profile view.

Key words

first trimester screening - nuchal translucency - anomaly scan

• Literatur

• 1 Abele H, Wagner N, Hoopmann M. et al. Effect of deviation from the mid-sagittal plane on the measurement of fetal nuchal translucency. Ultrasound Obstet Gynecol 2010; 35: 525-529
• 2 Kagan KO, Wright D, Etchegaray A. et al. Effect of deviation of nuchal translucency measurements on the performance of screening for trisomy 21. Ultrasound Obstet Gynecol 2009; 33: 657-664
• 3 Fetal medicine foundation London. https://fetalmedicine.org/nuchal-translucency-scan
• 4 Fetal medicine foundation Deutschland. http://www.fmfdeutschland.info/pdf/NT_Kriterien.pdf#page=1&zoom=100&pagemode=thumbs
• 5 Nicolaides KH. A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment. Prenat Diagn 2011; 31: 3-6
• 6 Gabbay-Benziv R, Oliveira N, Baschat AA. Optimal first trimester preeclampsia prediction: a comparison of multimarker algorithm, risk profiles and their sequential application. Prenat Diagn 2016; 36: 34-39
• 7 Syngelaki A, Chelemen T, Dagklis T. et al. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 2011; 31: 90-102
• 8 Wagner P, Sonek J, Hoopmann M. et al. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. Ultrasound Obstet Gynecol 2016; 48: 446-451
• 9 Khalil A, Mahmoodian N, Kulkarni A. et al. Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study. Fetal Diagn Ther 2015; 38: 254-261
• 10 Grande M, Arigita M, Borobio V. et al. First-trimester detection of structural abnormalities and the role of aneuploidy markers. Ultrasound Obstet Gynecol 2012; 39: 157-163
• 11 Maya I, Yacobson S, Kahana S. et al. The cut-off value for normal nuchal translucency evaluated by chromosomal microarray analysis. Ultrasound Obstet Gynecol 2017 Epub ahead of print
• 12 Kagan KO, Sonek J, Wagner P. et al. Principles of first trimester screening in the age of non-invasive prenatal diagnosis – screening for chromosomal abnormalities. Arch Gynecol Obstet 2017 in press
• 13 Kagan KO, Sonek J, Wagner P. et al. Principles of first trimester screening in the age of non-invasive prenatal diagnosis – screening for other major defects and pregnancy complications. Arch Gynecol Obstet 2017 in press
• 14 Kagan KO, Hoopmann M, Hammer R. et al. Screening for Chromosomal Abnormalities by First Trimester Combined Screening and Noninvasive Prenatal Testing. Ultraschall Med 2015; 36: 40-46
• 15 Abele H, Wagner P, Sonek J. et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn 2015; 35: 1182-1186
• 16 Rossi AC, Prefumo F. Accuracy of ultrasonography at 11–14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol 2013; 122: 1160-1167
• 17 Souka AP, von Kaisenberg CS, Hyett JA. et al. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005; 192: 1005-1021
• 18 Bilardo CM, Müller MA, Pajkrt E. et al. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound in Obstetrics & Gynecology 2007; 30: 11-18
• 19 Atzei A, Gajewska K, Huggon IC. et al. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound in Obstetrics & Gynecology 2005; 26: 154-157
• 20 Baer RJ, Norton ME, Shaw GM. et al. Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Am J Obstet Gynecol 2014; 211: 675.e1-675.e19
• 21 Pereira S, Ganapathy R, Syngelaki A. et al. Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects. Obstet Gynecol 2011; 117: 1384-1391
• 22 Altmann R, Scharnreitner I, Scheier T. et al. Sonoembryology of the fetal posterior fossa at 11 + 3 to 13 + 6 gestational weeks on three-dimensional transvaginal ultrasound. Prenat Diagn 2016; 36: 731-737
• 23 Shekdar K. Posterior fossa malformations. Semin Ultrasound CT MR 2011; 32: 228-241
• 24 Chaoui R, Benoit B, Mitkowska-Wozniak H. et al. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11–13-week scan. Ultrasound Obstet Gynecol 2009; 34: 249-252
• 25 Lachmann R, Chaoui R, Moratalla J. et al. Posterior brain in fetuses with open spina bifida at 11 to 13 weeks. Prenat Diagn 2011; 31: 103-106
• 26 Mangione R, Dhombres F, Lelong N. et al. Screening for fetal spina bifida at the 11–13 week scan using three hallmarks of the posterior brain anatomy. Ultrasound Obstet Gynecol 2013; 42: 416-420
• 27 Chen FCK, Gerhardt J, Entezami M. et al. Detection of Spina Bifida by First Trimester Screening – Results of the Prospective Multicenter Berlin IT-Study. Ultraschall in Med 2017; 38: 151-157
• 28 Kavalakis I, Souka AP, Pilalis A. et al. Assessment of the posterior brain at 11–14 weeks for the prediction of open neural tube defects. Prenat Diagn 2012; 32: 1143-1146
• 29 Kappou D, PAPASTEFANOU I, PILALIS A. et al. Towards detecting open spina bifida in the first trimester: the examination of the posterior brain. Fetal Diagn Ther 2015; 37: 294-300
• 30 Liu M, Liu Y, Li Z-H. et al. Screening for Fetal Spina Bifida Aperta by the Ultrasound and Intracranial Translucency Examinations at 11–13(+6) Weeks of Gestation. Cell Biochem Biophys 2015; 72: 439-441
• 31 Lachmann R, Sinkovskaya E, Abuhamad A. Posterior brain in fetuses with Dandy-Walker malformation with complete agenesis of the cerebellar vermis at 11–13 weeks: a pilot study. Prenat Diagn 2012; 32: 765-769
• 32 Bornstein E, Goncalves RodríguezJL, Álvarez PavónEC. et al. First-trimester sonographic findings associated with a Dandy-Walker malformation and inferior vermian hypoplasia. J Ultrasound Med 2013; 32: 1863-1868
• 33 Lafouge A, Gorincour G, Desbriere R. et al. Prenatal diagnosis of Blake's pouch cyst following first-trimester observation of enlarged intracranial translucency. Ultrasound Obstet Gynecol 2012; 40: 479-480
• 34 Volpe P, Contro E, Fanelli T. et al. Appearance of fetal posterior fossa at 11–14 weeks in fetuses with Dandy-Walker malformation or chromosomal anomalies. Ultrasound Obstet Gynecol 2016; 47: 720-725
• 35 Engels AC, Joyeux L, Brantner C. et al. Sonographic detection of central nervous system defects in the first trimester of pregnancy. Prenat Diagn 2016; 36: 266-273
• 36 Guibaud L, Portes desV. Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis. Ultrasound in Obstetrics & Gynecology 2006; 27: 477-481
• 37 D'Antonio F, Khalil A, Garel C. et al. Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies. Ultrasound Obstet Gynecol 2016; 47: 690-697
• 38 Pilu G, Romero R, De Palma L. et al. Ultrasound investigation of the posterior fossa in the fetus. Amer J Perinatol 1987; 4: 155-159
• 39 Ichizuka K, Mishina M, Hasegawa J. et al. Diagnosis of a case of Dandy-Walker malformation aided by measurement of the brainstem-vermis angle at 14 weeks gestation. J Obstet Gynaecol Res 2015; 41: 790-793
• 40 Lachmann R, Sodre D, Barmpas M. et al. Midbrain and falx in fetuses with absent corpus callosum at 11–13 weeks. Fetal Diagn Ther 2013; 33: 41-46
• 41 Díaz-Guerrero L, Giugni-Chalbaud G, Sosa-Olavarría A. Assessment of pericallosal arteries by color Doppler ultrasonography at 11–14 weeks: an early marker of fetal corpus callosum development in normal fetuses and agenesis in cases with chromosomal anomalies. Fetal Diagn Ther 2013; 34: 85-89
• 42 Pati M, Cani C, Bertucci E. et al. Early Visualization and Measurement of the Pericallosal Artery An Indirect Sign of Corpus Callosum Development. J Ultrasound Med 2012; 31: 231-237
• 43 Johnson SP, Sebire NJ, Snijders RJ. et al. Ultrasound screening for anencephaly at 10–14 weeks of gestation. Ultrasound in Obstetrics & Gynecology 1997; 9: 14-16
• 44 Sepulveda W, Wong AE. First trimester screening for holoprosencephaly with choroid plexus morphology (“butterfly” sign) and biparietal diameter. Prenat Diagn 2013; 33: 1233-1237
• 45 Kagan KO, Cicero S, Staboulidou I. et al. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009; 33: 259-264 in press.
• 46 Kagan KO, Sonek J, Berg X. et al. Facial markers in second and third trimester fetuses with trisomies 18 and 13, Triploidy and Turner syndrome. Ultrasound Obstet Gynecol 2014; 46: 60-65 in press.
• 47 Vos FI, De Jong-Pleij EAP, Bakker M. et al. Facial profile markers in second- and third-trimester fetuses with trisomy 18. Ultrasound Obstet Gynecol 2015; 46: 66-72
• 48 Borenstein M, Persico N, Strobl I. et al. Frontomaxillary and mandibulomaxillary facial angles at 11 + 0 to 13 + 6 weeks in fetuses with trisomy 18. Ultrasound in Obstetrics & Gynecology 2007; 30: 928-933
• 49 Lachmann R, Picciarelli G, Moratalla J. et al. Frontomaxillary facial angle in fetuses with spina bifida at 11–13 weeks' gestation. Ultrasound Obstet Gynecol 2010; 36: 271
• 50 Bakker M, Pace M, de Jong-Pleij E. et al. Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia. Fetal Diagn Ther 2016 Epub ahead of print
• 51 Manegold-Brauer G, Bourdil L, Berg C. et al. Prenasal thickness to nasal bone length ratio in normal and trisomy 21 fetuses at 11–14 weeks of gestation. Prenat Diagn 2015; 35: 1079-1084
• 52 Cicero S, Curcio P, Rembouskos G. et al. Maxillary length at 11–14 weeks of gestation in fetuses with trisomy 21. Ultrasound Obstet Gynecol 2004; 24: 19
• 53 Yazdi B, Riefler P, Fischmüller K. et al. The frontal space measurement in euploid and aneuploid pregnancies at 11–13  weeks' gestation. Prenat Diagn 2013; 33: 1124-1130
• 54 Chaoui R, Orosz G, Heling K-S. et al. Maxillary gap at 11–13 weeks' gestation: marker of cleft lip and palate. Ultrasound Obstet Gynecol 2015; 46: 665-669
• 55 Hoopmann M, Sonek J, Esser T. et al. Frontal space distance in facial clefts and retrognathia at 11–13 weeks' gestation. Ultrasound Obstet Gynecol 2016; 48: 171-176
• 56 Tonni G, Grisolia G, Sepulveda W. Early Prenatal Diagnosis of Orofacial Clefts: Evaluation of the Retronasal Triangle Using a New Three-Dimensional Reslicing Technique. Fetal Diagn The 2013; 34: 31-37