FETAL SYNDROMES - DIAGNOSIS AND MANAGEMENT USING 3D-4D SONOGRAPHY

  • Asim Kurjak

Abstract


Three-dimensional ultrasound (3D US) has become a very powerful and progresively popular ultrasound technique in the last  three decades (1989-2019).1 Today, it is used in regular prenatal assessment in everyday clinical practice as additional method to two-dimensional ultrasound (2D US).

Over the time, 3D US equipment and technology dramatically enhanced the qality of images, shortened the time of acquisition, and at the same time improved our ability to assess and visualize the normal and to detect abnormal development of a embryo and fetus in utero.1-13 Acquired volumes can be stored, re-loaded and re-evaluated at any time. Different imaging modalities can be applied for more detailed survey. Particular region of interest such as small defects can be displayed in the ideal plane that sometimes can not be achived by conventional 2D US technique.3,4,9,10 This increases the accuracy of the detection and diagnosis of various malformations and fetal syndromes.2

Diagnosing fetal syndromes is a major challenge both in the prenatal and postnatal period.2 The syndrome is like a big puzzle whose parts need to be carefully assembled to get a whole picture.2 Good multidisciplinary approach, proper communication and collaboration with parents and all physician’s involved are required in the diagnostic process. All available resources and tools are needed to increase diagnostic precision in the prenatal diagnosis of fetal syndromes.4

The introduction of highly specialized software systems for three-dimensional and four dimensional ultrasound (3D/ 4D US) enable detailed assessment of the fetal anatomy and the evaluation of the dynamics of structural and functional development of the fetus in real-time.2,4 Owing to this, clinical practice has also gained new functional tests such as the Kurjak's antenatal neurodevelopmental test (KANET); named in honor of its author; used for the evaluation of fetal brain function.2-4,24-31 Antenatal detection and diagnosis of fetal anomalies and syndromes is shifted from the 2nd to the 1st trimester of pregnancy2,4,10-12 partly due to technological advances and benefits of imaging quality with 3D/4D US technology,  as reported by many authors.

References

Merz E. 25 Years of 3D ultrasound in prenatal diagnosis (1989-2014). Ultraschall Med. 2015 Feb;36(1):3-8. doi: 10.1055/s-0034-1398866.

Spalldi Barišić L, Kurjak A, Pooh K. R et al. Antenatal detection of fetal syndromes by ultrasound: From a single piece to a complete puzzle. Donald School J Ultrasound Obstet Gynecol 2016;10(1):63-77.

Merz E, Abramowicz JS. 3D/4D ultrasound in prenatal diagnosis: Is it time for routine use? Clin Obstet Gynecol 2012;55:336-351.

Spalldi Barišić L, Stanojević M, Kurjak A, et al. Diagnosis of fetal syndromes by three- and four- dimensional ultrasound: is there any improvement? J. Perinat. Med. 2017;45(6): 651-665.

Benacerraf BR. Ultrasound of fetal Syndromes. 2nd ed. Churchill Livingstone, 2008. Chapter 1, Differential Diagnoses; Chapter 2, Syndromes.

Lanna M, Rustico MA, Pintucci A, Spaccini L, Lalatta F, Nicolini U. Three-dimensional ultrasound and genetic syndromes. DSJUOG 2007 Jul-Sep;1(3):54-59.

Jones, KL. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: Elsevier Saunders, 1997. Chapter 1, Introduction including dysmorphology approach and classification.

Jones, KL. Smith's Recognizable Patterns of Human Malformations. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006.

Pooh RK, Kurjak A. Novel application of three-dimensional HDlive imaging in prenatal diagnosis from the first trimester. J Perinat Med. 2015;43:147-58

Pooh, RK. Neuroanatomy visualisation by 2D and 3D. In: Pooh RK, Kurjak A, editors. Fetal neurology. New Delhi: Jaypee Brothers Medical Publisers (P) Ltd; 2009. p. 15-38.

Pooh RK, Kurjak A. 3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy. J Matern Fetal Neonatal Med. 2012;25(5):433-455.

Kurjak A, Carrera JM, Stanojevic M, et al. The role of 4D sonography in the neurological assessment of early human development. Ultrasound Rev Obstet Gynecol 2004; 4: 148-159.

Salihagic-Kadic A, Kurjak A, Medić M, Andonotopo W, Azumendi G. New data about embryonic and fetal neurodevelopment and behavior obtained by 3D and 4D sonography. J Perinat Med 2005; 33: 478-490.

Pooh RK, Kurjak. Donald School Atlas of Advanced Ultrasound in Obstetrics and Gynaecology. 1st edition. New Delhi: Jaypee Brothers Medical Publishers (P) Ltd: 2015. Images with the permission of the publisher.

Andonotopo W, Kurjak A, Kosuta MI. Behavior of an anencephalic fetus studied by 4D sonography. J Matern Fetal Neonatal Med 2005; 17: 165-168.

Abo-Yaqoub S, Kurjak A, Mohammed AB, Shadad A, Abdel-Maaboud M. The role of 4-D ultrasonography in prenatal assessment of fetal neurobehaviour and prediction of neurological outcome. J Matern Fetal Neonatal Med 2012; 25: 231-236.

Talic A, Kurjak A, Ahmed B, et al. The potential of 4D sonography in the assessment of fetal behavior in high-risk pregnancies. J Matern Fetal Neonatal Med 2011; 24: 948-954.

Miskovic B, Vasilj O, Stanojevic M, Ivanković D, Kerner M, Tikvica A. The comparison of fetal behavior in high risk and normal pregnancies assessed by four dimensional ultrasound. J Matern Fetal Neonatal Med 2010;23:1461-1467.

Andonotopo W, Kurjak A. The assessment of fetal behavior of growth restricted fetuses by 4D sonography. J Perinat Med 2006;34: 471-478.

Talic A, Kurjak A, Stanojevic M, Honemeyer U, Badreldeen A, DiRenzo GC. The assessment of fetal brain function in fetuses with ventrikulomegaly: the role of the KANET test. J Matern Fetal Neonatal Med 2012; 25:1267-1272.

Morokuma S, Fukushima K, Yumoto Y, et al. Simplified ultrasound screening for fetal brain function based on behavioral pattern. Early Hum Dev 2007;83:177-181

Kurjak A, Miskovic B, Stanojevic M, et al. New scoring system for fetal neurobehavior assessed by three- and four-dimensional sonography. J Perinat Med 2008; 36: 73-81.

Kurjak A, Abo-Yaqoub S, Stanojevic M, et al. The potential of 4D sonography in the assessment of fetal neurobehavior-multicentric study in high-risk pregnancies. J Perinat Med 2010; 38: 77-82.

Stanojevic M, Talic A, Miskovic B, et al. An attempt to standardize Kurjak’s antenatal neurodevelopmental test: Osaka Consensus Statement. Donald School J Ultrasound Obstet Gynecol 2011; 5: 317-329.

Stanojevic M, Antsaklis P, Salihadic-Kadic A et al. Is Kurjak Antenatal Neurodevelopmental Test Ready for Routine Clinical Application? Bucharest Consensus Statement. DSJUOG July-September 2015(9);3:260-265

Kurjak A, Antsaklis P, Stanojević M, Vladareanu R, Vladareanu S, Moreira Neto R,

Spalldi Barišić L, Porović S, Delić T. Multicentric studies of the fetal neurobehavior by KANET test. J. Perinat. Med. 2017;45(6):717-727.

Kurjak A, Spalldi Barišić L, Stanojević M, et al. Are We Ready to investigate Cognitive Function of Fetal Brain? The Role of Advanced Four-dimensional Sonography. Donald School Journal of Ultrasound in Obstetrics and Gynecology. 2016;10(2):116-124. DOI 10.5005/jp-journals-10009-1453

Salihagić Kadić A, Kurjak A. Cognitive functions of the fetus. Ultraschall in der Medizin 39(2):181-189 DOI 10.1055/s-0043-123469

Pooh RK. A New Field of ‘Fetal Sono-ophthalmology’ by 3D HDlive Silhouette and Flow. Donald School J Ultrasound Obstet Gynecol. 2015;9(3):221-222.

Kurjak A, Pooh RK, Merce LT, Carrera JM, Salihagic-Kadic A, Andonotopo W. Structural and functional early human development assessed by three-dimensional and four-dimensional sonography. Fertil Steril. 2005;84:1285–99.

Hata T, Mashima M, Ito M, Uketa E, Mori N, Ishimura M. Three-dimensional HDlive rendering images of the fetal heart. Ultrasound Med Biol. 2013;39:1513–7.

Hanaoka U, Tanaka H, Koyano K, Uematsu R, Kanenishi K, Hata T. HDlive imaging of the face of fetuses with autosomal trisomies. J Med Ultrasonics. 2014;41:339–42.

Basel-Vanagaite L, Wolf L, Orin M, Larizza L, Gervasini C, Krantz ID, et al. Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Clin Genet. 2016;89:557–63.

Gripp K. Face2Gene RESEARCH for Deep Phenotyping of Novel Syndromes. ACMG. April 18, 2018. http//www.fdna.com/blog/acmgtalk_gripp.

FDNA Face2Gene: http//www.face2gene.com

Phenotip Online Database: http://www.phenotip.com

Dorland’s Illustrated Medical Dictionary online. Elsevier. Available at: www.dorlands.com/wsearch.jsp

Lyons KJ, Crandall MJ, del Campo M. Smith’s recognizable patterns of human malformation, 7th ed. Philadelphia, PA: Elsevier Saunders; 2013

Shprintzen RJ, Siegl-Sadewitz VL, Amato J, et al. Anomalies associated with cleft lip, cleft palate or both. Am J Med Genet. 1985;29:585-95.

Gonçalves LF, Lee W, Espinoza J, Romero R. Three- and 4-dimensional ultrasound in obstetric practice: does it help? J Ultrasound Med. 2005;24(12):1599-624.

Merz E, Welter C. Two-dimensional and three-dimensional ultrasound in the evaluation of normal and abnormal fetal anatomy in the second and third trimesters in a level III center. Ultraschall Med 2005;26(1):9-16. 22.

Benoit B, Levaillant J.M. Voluson GE healthcare technology.available at www.volusonclub.net (accessed on December 10, 2016)

Bonilla-Musoles F, Raga F, Castillo JC, Bonilla FJr, Climent MT, Caballero O. High definition real-time ultrasound (HDlive) of embryonic and fetal malformations before week 16. Donald School J Ultrasound Obstet Gynecol. 2013;7:18,11

Kagan KO, Pintoffl K, Hoopmann M. First-trimester ultrasound images using HDlive. Ultrasound Obstet Gynecol. 2011;38 : 607.

Hata T. HDlive rendering image at 6 weeks of gestation. J Med Ultrason. 2013;40:495 - 6. 26.

Hata T, Mashima M, Ito M, Uketa E, Mori N, Ishimura M. Three-dimensional HDlive rendering

Pooh RK. Novel Application of HDlive Silhouette and HDlive Flow: Clinical Significance of the ‘See-through Fashion’ in Prenatal Diagnosis. Donald School J Ultrasound Obstet Gynecol. 2016; 10(1):90 - 98

Pooh RK. Clinical significance of 3D HDlive silhouette/flow in neurosonoembryology and fetal neurosonography. Ultrasound in Obstetrics & Gynecology 2016; 48 (Suppl. 1): 51–166.

Tonni G, Castigliego AP, Grisolia G, Lituania M, Meagher S, Da Silva Costa F, Araujo Júnior E. Three-dimensional ultrasonography by means of HDlive rendering in the first trimester of pregnancy: A pictorial review. J Turk Ger Gynecol Assoc2016; 17(2): 110–119. Published online 2016 Jan 12. doi: 10.5152/jtgga.2016.15201

Hata T, Kanenishi K, Akiyama M, Tanaka H, Kimura K. Real-time 3-D sonographic observation of fetal facial expression. J Obstet Gynaecol Res 2005;31: 337-340.

Kurjak A, Azumendi G, Andonotopo W, Salihagic-Kadic A. Three- and four-dimensional ultrasonography for the structural and functional evaluation of the fetal face. Am J Obstet Gynecol 2007; 196: 16-28.

Pooh RK, Kurjak A. Three-dimensional Ultrasound in Detection of Fetal Anomalies. Donald School J Ultrasound Obstet Gynecol. 2016;10(3)376-390

The third cycle of the Give A Face To A Syndrome research program. Research Proposals Issued at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting 2016. http://www.FDNA.com

Sperber GH. Cranifacial embryology. 4th edition, London: Wright; 1989.

Johnston MC. Embryology of the fetal head and neck. In JG. McCarthy (Ed) Plastic surgery. Philadelphia: WB. Sounders Co; 1990;4:2451-95

Paladini D, Morra T, Teodoro A, Lamberti A, Tremolaterra F, Martinelli P. Objective diagnosis of micrognathia in the fetus: the Jaw index. Obstet Gynecol 1999 Mar;93(3):382-386.

Merz E et al. 3D imaging of the fetal face - Recommendations from the International 3D Focus Group. Ultraschall in Med 2012; 33: 175–182

Maarse W, Berge SJ, Pistorius L, van Barneveld T, Kon M, Breugem C, Mink Van der Molen AB. Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review. Ultrasound Obstet Gynecol 2010 Apr;35(4):495-502.

Godbout A, Leclerc JE, Arteau-Gauthier I, Leclerc LD. Isolated Versus Pierre Robin Sequence Cleft Palates: Are They Different? Cleft Palate Craniofac J 2014 Jul;51(4):406-411.

Evans KN, Sie KC, Hopper RA, Robin, Hing AV, Cunningham ML. Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics 2011 May;127(5): 936-948.

Nowakowski, TJ, Pollen AA, Di Lullo E, Sandoval-Espinosa C, Bershteyn M, Kriegstein AR. Expression Analysis Highlights AXL as a Candidate Zika Virus Entry Receptor in Neural Stem Cells. Cell Stem Cell. 2016;18(5):591 – 596.

Li, C, Xu D, Ye Q, Hong S, Jiang Y, Liu X, Zhang N, Shi L, Qin CF, Xu Z. Zika Virus Disrupts Neural Progenitor Development and Leads to Microcephaly in Mice. Cell Stem Cell. 2016;19(1):120 – 6.

Society for Maternal-Fetal Medicine (SMFM) Publications Committee. SMFM Statement. Ultrasound Screening for Fetal Microcephaly Following Zika Virus Exposure. AJOG. 2016;214 (6):B2– B4.

Teoh M, Meagher S. First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome. Ultrasound Obstet Gynecol 2003 Jun;21(6):616-618.

Johnson JM, Moonis G, Green GE, Carmody R, Burbank HN. Syndromes of the first and second branchial arches, part 2: syndromes. American Journal of Neuroradiology. 2011;32:(2):230 – 237.

Breugem CC, Courtemanche DJ. Robin Sequence: Clearing Nosologic Confusion. Cleft Palate Craniofac J 2010 Mar;47(2):197-200.

Evans AK, Rahbar R, Rogers GF, Mulliken JB, Volk MS. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhino laryngol 2006 Jun;70(6):973-980.

Martinelli P, Maurotti GM, Agangi A, Mazzarelli LL, Bifulco G, Paladini D. Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Ultrasound Obstet Gynecol 2004; 24:199 - 201. DOI:10.1002/uog.1118.

Wang R, Martinez-Frias ML, Graham JM Jr. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. J Pediatr. 2002;141(5):611 - 7.

Chervenak FA, Rosenberg J, Brightman RC, Chitkara U, Jeanty P. A prospective study of accuracy of ultrasound in predicting fetal microcephaly. Obstet Gynecol. 1987;69(6):908 - 1043.

Paul A Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. European Journal of Human Genetics. 2009;17:275 – 283; doi:10.1038/ejhg.2008.221.

Tsai MY, Lan KC, Ou CY, Chen JH, Chang SY, Hsu TY. Assessment of the facial features and chin development of fetuses with use of serial three-dimensional sonography and the mandibular size monogram in a Chinese population. Am J Obstet Gynecol. 2004;190(2):541 – 546

Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey JP, Glynn EF, Ellington L, Du C, Dixon J, Dixon MJ, Trainor PA. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med. 2008;14(2):125 – 33

Toriello HV, Meck JM. Statement on guidance for genetic counseling in advanced paternal age. Genet. Med.2008.10 (6): 457 – 60.

De Araújo TV, Rodrigues LC, de Alencar Ximenes RA, de Barros Miranda- Filho D, Montarroyos UR, de Melo AP.. et al. Association between Zika virus infection and microcephaly in Brazil, January to May, 2016: preliminary report of a case-control study. Lancet Infect Dis. 2016;(16)12:1356 - 1363.

van der Linden V, Pessoa A, Dobyns W, Barkovich AJ, van der Linden HJ, Rolim Filho EL. et al. Description of 13 Infants Born During October 2015–January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth, Brazil. MMWR. 2016;65(47);1343 – 1348

Melo AS de O, Aguiar RS, Amorim MMR, Tanuri A, Melo FO, Ribeiro ST. et al. Congenital Zika Virus Infection. JAMA Neurol. Published online October 3, 2016. Corrected on October 24, 2016.

Kurjak A, Antsaklis P, Stanojević M, Vladareanu R, Vladareanu S, Moreira Neto R,

Barišić I, Odak LJ, Loane M, Garne E, Wellesley D, Calzolari E. et al. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. European Journal of Human Genetics. 2014;22:1026 – 1033; doi:10.1038/ejhg.2013.287.

Barišić Spalldi L, Kurjak A, Pooh RK. 3D sonography in fetal syndromes. In: Merz E, Kurjak A (eds) Donald School Textbook: Current status of clinical use of 3D-4D sonography in Obstetrics and Gynecology, Jaypee Brothers (New Delhi) 2019, in press

Published
2019/07/02