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Scripta Medica
2019, vol. 50, br. 1, str. 35-53
jezik rada: engleski
vrsta rada: pregledni članak
objavljeno: 05/07/2019
doi: 10.5937/scriptamed50-21107
Fetal syndromes: Diagnosis and management using 3D-4D sonography
(naslov ne postoji na srpskom)
aIan Donald Inter-University School of Medical Ultrasound, Zagreb, Croatia
bUniverzitet u Banjoj Luci, Medicinski fakultet, Katedra za ginekologiju i opstetriciju, Republika Srpska, BiH + Clinic Medico S, Banja Luka, Republic of Srpska, Bosnia and Herzegovina
cPrimary Health Center of Sarajevo Canton, Department of Preventive and Pediatric Dentistry, Sarajevo, Bosnia and Herzegovina
dGynecological Polyclinic 'Korak do života', Tuzla, Bosnia and Herzegovina
eClinical Hospital "Sv. Duh", Department of Obstetrics and Gynecology, Division of Neonatology, Zagreb, Croatia



(ne postoji na srpskom)
<Conclusion>The 3D ultrasound technique with different visualization and manipulation capabilities of stored volume, provides a unique opportunity for a detailed view of normal and abnormal fetal development. If facial anomaly is suspected, this technique will help in the evaluation and gained images will give some answers to question about severity and extent of anomalies. Particularly handy tool may be when communicating the neonatologist, pediatrician, plastic and reconstructive head and neck surgeon and especially when consulting with the parents of the child. However, as in any imaging technique (ultrasound, MSCT, MRI), you need to know the dome and limitations of 3D / 4D rendering and to be aware of possible artifacts and traps. From the first trimester to the next, as soon as it becomes possible to detect congenital anomaly by prenatal ultrasound, the question ariseswhat can and should be done. Many ethical dilemmas present at the time.2, 4 Contemporary medicine faces some major problems when it has the ability to prolong life of severely sick baby with potentially lethal congenital syndromes. Taking specific ultrasonic diagnostics into account, the idea is to find the balance between the advantages and limitations of sonographic assessment. At the same time, it should be possible to optimize recommendations with the expectations of parents of potentially seriously ill baby. Given the complexity of prenatal diagnosis of syndrome, everything involved in the process is also complex. This includes conformation of prenatal diagnosis postnatally and determination of the short and long term prognosis if possible to assist parents who are facing a baby with syndrome. 2, 4 It is essential to point out the necessity of complex, lifelong and costly multidisciplinary care for severely ill baby. All the aforementioned, 3D / 4D US techniques promise to improve the accuracy of clinicians in detection of fetal abnormalities and detecting fetal syndromes as early as possible. There are many advantages in prenatal detection of fetal syndromes already described, but there is also a great room for improvement. Since new 3D / 4D ultrasound technology becomes more available in everyday clinical practice, the clinician should remain well-informed, well trained and monitor new diagnostic capabilities. Continuous education is necessary. In this way, the number of fetal abnormalities and syndromes detected prenatally will probably increase over time.4 Auxiliary tools such as network databases ("online databases") that integrate all the necessary information should be included and used for better diagnostic precision.


*** (2016) The third cycle of the Give a Face to a Syndrome research program. u: Research Proposals Issued at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting,
Abo-Yaqoub, S., Kurjak, A., Mohammed, A.B., Shadad, A., Abdel-Maaboud, M. (2012) The role of 4-D ultrasonography in prenatal assessment of fetal neurobehaviour and prediction of neurological outcome. Journal of Maternal-Fetal & Neonatal Medicine, 25(3): 231-236
Andonotopo, W., Kurjak, A. (2006) The assessment of fetal behavior of growth restricted fetuses by 4D sonography. Journal of Perinatal Medicine, 34(6): 471-478
Andonotopo, W., Kurjak, A., Kosuta, M.I. (2005) Behavior of an anencephalic fetus studied by 4D sonography. Journal of Maternal-Fetal & Neonatal Medicine, 17(2): 165-168
Barišić, I., Odak, L.J., Loane, M., Garne, E., Wellesley, D., Calzolari, E., et al. (2014) Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: A registry-based study in Europe. European Journal of Human Genetics, 22:1026 -1033
Barišić, S.L., Kurjak, P.A., K.R., et al. (2016) Antenatal detection of fetal syndromes by ultrasound: From a single piece to a complete puzzle. Donald School J Ultrasound Obstet Gynecol, 10(1): 63-77
Barišić-Spalldi, L., Kurjak, A., Pooh, R.K. (2019) 3D sonography in fetal syndromes. u: Merz E, Kurjak A [ur.] Donald School Textbook: Current status of clinical use of 3D-4D sonography in Obstetrics and Gynecology, New Delhi: Jaypee Brothers, in press
Basel-Vanagaite, L., Wolf, L., Orin, M., Larizza, L., Gervasini, C., Krantz, I.D., Deardoff, M.A. (2016) Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Clinical Genetics, 89(5): 557-563
Benacerraf, B.R. (2008) Ultrasound of fetal Syndromes: Chapter 1: Differential Diagnoses; Chapter 2: Syndromes. Churchill Livingstone, 2nd ed
Benoit, B., Levaillant, J. Voluson GE healthcare technology. available at (accessed on December 10, 2016)
Bonilla-Musoles, F., Raga, F., Carlos, C.J., Bonilla, J.F., Teresa, C.M., Caballero, O. (2013) High Definition Real-Time Ultrasound (HDLive) of Embryonic and Fetal Malformations before Week 16. Donald School Journal of Ultrasound in Obstetrics & Gynecology, 7: 1-8
Breugem, C.C., Courtemanche, D.J. (2010) Robin Sequence: Clearing Nosologic Confusion. Cleft Palate-Craniofacial Journal, 47(2): 197-200
Chervenak, F.A., Rosenberg, J., Brightman, R.C., Chitkara, U., Jeanty, P. (1987) A prospective study of accuracy of ultrasound in predicting fetal microcephaly. Obstet Gynecol, 69(6): 908-1043
de Araújo, T.V., Rodrigues, L.C., de Alencar, X.R.A., de Barros, M.D., Montarroyos, U.R., de Melo, A.P., et al. (2016) Association between Zika virus infection and microcephaly in Brazil, January to May, 2016: Ppreliminary report of a case-control study. Lancet Infect Dis, 12(16): 1356-1363
de Melo, A.S.O., Aguiar, R.S., Amorim, M.M.R., Tanuri, A., Melo, F.O., Ribeiro, S.T., et al. (2016) Congenital Zika Virus Infection. JAMA Neurol, Published online October 3, 2016. Corrected on October 24
Elsevier Dorland's Illustrated Medical Dictionary. online.Available at:
Evans, A.K., Rahbar, R., Rogers, G.F., Mulliken, J.B., Volk, M.S. (2006) Robin sequence: A retrospective review of 115 patients. International Journal of Pediatric Otorhinolaryngology, Jun;70(6):973-980
Evans, K.N., Sie, K.C., Hopper, R.A., Glass, R.P., Hing, A.V., Cunningham, M.L. (2011) Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics, May;127(5): 936-948
FDNA Face2Gene. http//
Godbout, A., Leclerc, J.E., Arteau-Gauthier, I., Leclerc, L.E. (2014) Isolated Versus Pierre Robin Sequence Cleft Palates: Are They Different?. Cleft Palate-Craniofacial Journal, 51(4): 406-411
Gonçalves, L.F., Lee, W., Espinoza, J., Romero, R. (2005) Three-and 4-Dimensional Ultrasound in Obstetric Practice: Does it help?. Journal of Ultrasound in Medicine, 24(12): 1599-1624
Gripp, K. (2018) Face2Gene RESEARCH for Deep Phenotyping of Novel Syndromes. ACMG, http//
Hanaoka, U., Tanaka, H., Koyano, K., Uematsu, R., Kanenishi, K., Hata, T. (2014) HDlive imaging of the face of fetuses with autosomal trisomies. Journal of Medical Ultrasonics, 41(3): 339-342
Hata, T. (2013) HDlive rendering image at 6 weeks of gestation. Journal of Medical Ultrasonics, 40(4): 495-496
Hata, T., Mashima, M., Ito, M., Uketa, E., Mori, N., Ishimura, M. (2016) Three-dimensional HDlive rendering
Hata, T., Kanenishi, K., Akiyama, M., Tanaka, H., Kimura, K. (2005) Real-time 3-D sonographic observation of fetal facial expression. Journal of Obstetrics and Gynaecology Research, 31(4): 337-340
Hata, T., Mashima, M., Ito, M., Uketa, E., Mori, N., Ishimura, M. (2013) Three-Dimensional HDlive Rendering Images of the Fetal Heart. Ultrasound in Medicine & Biology, 39(8): 1513-1517
Johnson, J.M., Moonis, G., Green, G.E., Carmody, R., Burbank, H.N. (2011) Syndromes of the First and Second Branchial Arches: Syndromes. American Journal of Neuroradiology, Part 2, 32(2): 230-237
Johnston, M.C. (1990) Embryology of the fetal head and neck. u: McCarthy JG. [ur.] Plastic surgery, Philadelphia: WB. Sounders Co, 4: 2451-95
Jones, K.L. (2006) Smith's Recognizable Patterns of Human Malformations. Philadelphia, PA: Elsevier Saunders, 6th ed
Jones, K.L. (1997) Smith's Recognizable Patterns of Human Malformation: Introduction including dysmorphology approach and classification. Philadelphia: Elsevier Saunders, 5th ed. Chapter 1
Jones, N.C., Lynn, M.L., Gaudenz, K., Sakai, D., Aoto, K., Rey, J.P., Glynn, E.F., Ellington, L., Du, C., Dixon, J., Dixon, M.J., Trainor, P.A. (2008) Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nature Medicine, 14(2): 125-133
Kagan, K.O., Pintoffl, K., Hoopmann, M. (2011) First-trimester ultrasound images using HDlive. Ultrasound in Obstetrics & Gynecology, 38(5): 607-607
Kurjak, A., Miskovic, B., Stanojevic, M., et al. (2008) New scoring system for fetal neurobehavior assessed by three-and four-dimensional sonography. J Perinat Med, 36: 73-81
Kurjak, A., Carrera, J.M., Stanojevic, M., Andonotopo, W., Azumendi, G., Scazzocchio, E., Medic, M., Salihagic-Kadic, A. (2004) The role of 4D sonography in the neurological assessment of early human development. Ultrasound Review of Obstetrics and Gynecology, 4(3): 148-159
Kurjak, A., Abo-Yaqoub, S., Stanojevic, M., Yigiter, A.B., Vasilj, O., Lebit, D., Shaddad, A.N., Ahmed, B., Kavak, Z.N., Miskovic, B., Vladareanu, R., Barisic, L.S., Azumendi, G., Younis, M. (2010) The potential of 4D sonography in the assessment of fetal neurobehavior-multicentric study in high-risk pregnancies. Journal of Perinatal Medicine, 38(1): 77-82
Kurjak, A., Pooh, R.K., Merce, L.T., Carrera, J.M., Salihagic-Kadic, A., Andonotopo, W. (2005) Structural and functional early human development assessed by three-dimensional and four-dimensional sonography. Fertility and Sterility, 84(5): 1285-1299
Kurjak, A., Antsaklis, P., Stanojevic, M., Vladareanu, R., Vladareanu, S., Neto, R.M., Spalldi-Barisic, L., Porovic, S., Delic, T. (2017) Multicentric studies of the fetal neurobehavior by KANET test. Journal of Perinatal Medicine, 45(6): 717-727
Kurjak, A., Barisic, L.S., Stanojevic, M., Kadic, A.S., Porovic, S. (2016) 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, 10(2): 116-124
Kurjak, A., Miskovic, B., Stanojevic, M., Amiel-Tison, C., Ahmed, B., Azumendi, G.B., Vasilj, O., Andonotopo, W., Turudic, T., Salihagic-Kadic, A. (2008) New scoring system for fetal neurobehavior assessed by threeand four-dimensional sonography. Journal of Perinatal Medicine, 36(1): 73-81
Kurjak, A., Azumendi, G., Andonotopo, W., Salihagic-Kadic, A. (2007) Threeand four-dimensional ultrasonography for the structural and functional evaluation of the fetal face. American Journal of Obstetrics and Gynecology, 196(1): 16-28
Lanna, M., Rustico, M.A., Pintucci, A., Spaccini, L., Lalatta, F., Nicolini, U. (2007) Three-dimensional Ultrasound and Genetic Syndromes. Donald School Journal of Ultrasound in Obstetrics & Gynecology, 1(3): 54-59
Li, C., Xu, D., Ye, Q., Hong, S., Jiang, Y., Liu, X., Zhang, N., Shi, L., Qin, C.F., Xu, Z. (2016) Zika Virus Disrupts Neural Progenitor Development and Leads to Microcephaly in Mice. Cell Stem Cell, 19(1): 120-126
Lyons, K.J., Crandall, M.J., Del, C.M. (2013) Smith's recognizable patterns of human malformation. Philadelphia, PA: Elsevier Saunders, 7th ed
Maarse, W., Bergé, S.J., Pistorius, L., van Barneveld, T., Kon, M., Breugem, C., Mink, V.D.M.A.B. (2010) Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: A systematic review. Ultrasound in Obstetrics and Gynecology, 35(4): 495-502
Martinelli, P., Maruotti, G.M., Agangi, A., Mazzarelli, L.L., Bifulco, G., Paladini, D. (2004) Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Ultrasound in Obstetrics and Gynecology, 24(2): 199-201
Merz, E., Abramovicz, J., Baba, K., Blaas, H.G., Deng, J., Gindes, L., Lee, W., Platt, L., Pretorius, D., Schild, R., Sladkevicius, P., Timor-Tritsch, I. (2012) 3D imaging of the fetal face: Recommendations from the International 3D Focus Group. Ultraschall in der Medizin - European Journal of Ultrasound, 33(02): 175-182
Merz, E., Welter, C. (2005) 2D and 3D Ultrasound in the Evaluation of Normal and Abnormal Fetal Anatomy in the Second and Third Trimesters in a Level III Center. Ultraschall in der Medizin - European Journal of Ultrasound, 26(01): 9-16
Merz, E. (2015) 25 Years of 3D Ultrasound in Prenatal Diagnosis (1989-2014). Ultraschall in der Medizin - European Journal of Ultrasound, 36(01): 3-8
Merz, E., Abramowicz, J.S. (2012) 3D/4D ultrasound in prenatal diagnosis: Is it time for routine use?. Clin Obstet Gynecol, 55: 336-351
Miskovic, B., Vasilj, O., Stanojevic, M., Ivanković, D., Kerner, M., Tikvica, A. (2010) The comparison of fetal behavior in high risk and normal pregnancies assessed by four dimensional ultrasound. Journal of Maternal-Fetal & Neonatal Medicine, 23(12): 1461-1467
Morokuma, S., Fukushima, K., Yumoto, Y., et al. (2007) Simplified ultrasound screening for fetal brain function based on behavioral pattern. Early Hum Dev, 83:177-181
Nowakowski, T.J., Pollen, A.A., di Lullo, E., Sandoval-Espinosa, C., Bershteyn, M., Kriegstein, A.R. (2016) Expression Analysis Highlights AXL as a Candidate Zika Virus Entry Receptor in Neural Stem Cells. Cell Stem Cell, 18(5): 591-596
Paladini, D., Morra, T., Teodoro, A., Lamberti, A., Tremolaterra, F., Martinelli, P. (1999) Objective diagnosis of micrognathia in the fetus: The Jaw index. Obstetrics & Gynecology, 93(3): 382-386
Pashaj, S., Merz, E. (2017) Tree-dimensional ultrasound for detection of fetal syndromes. u: Kurjak A, Chervenak FA [ur.] Donald School textbook of ultrasound in obstetrics & gynecology, 4th edition. 800-816
Paul, A., Trainor, P.A., Dixon, J., Dixon, M.J. (2009) Treacher Collins syndrome: Etiology, pathogenesis and prevention. European Journal of Human Genetics, 17: 275-283
Pooh, R.K. (2016) Novel Application of HDlive Silhouette and HDlive Flow: Clinical Significance of the 'See-through Fashion' in Prenatal Diagnosis. Donald School J Ultrasound Obstet Gynecol, 10(1):90 -98
Pooh, R.K. (2016) Clinical significance of 3D HDlive silhouette/flow in neurosonoembryology and fetal neurosonography. Ultrasound in Obstetrics & Gynecology, 48 (Suppl. 1): 51-166
Pooh, R.K., Kurjak, A. (2015) Donald School Atlas of Advanced Ultrasound in Obstetrics and Gynaecology. New Delh: Jaypee Brothers Medical Publisers, 1st edition, Images with the permission of the publisher
Pooh, R.K. (2009) Neuroanatomy visualisation by 2D and 3D. u: Pooh RK, Kurjak A [ur.] Fetal neurology, New Delhi: Jaypee Brothers Medical Publisers, 15-38
Pooh, R.K. (2015) A New Field of 'Fetal Sono-ophthalmology' by 3D HDlive Silhouette and Flow. Donald School Journal of Ultrasound in Obstetrics and Gynecology, 9(3): 221-222
Pooh, R.K., Kurjak, A. (2012) 3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy. Journal of Maternal-Fetal & Neonatal Medicine, 25(5): 433-455
Pooh, R.K., Kurjak, A. (2016) Three-dimensional Ultrasound in Detection of Fetal Anomalies. Donald School J Ultrasound Obstet Gynecol, 10(3)376-390
Pooh, R.K., Kurjak, A. (2015) Novel application of three-dimensional HD live imaging in prenatal diagnosis from the first trimester. Journal of Perinatal Medicine, 43(2): 147-58
Salihagic-Kadic, A., Kurjak, A., Medić, M., Andonotopo, W., Azumendi, G. (2005) New data about embryonic and fetal neurodevelopment and behavior obtained by 3D and 4D sonography. Journal of Perinatal Medicine, 33(6): 478-490
Salihagić-Kadić, A., Kurjak, A. Cognitive functions of the fetus. Ultraschall in der Medizin, 39(2):181-189
Shprintzen, R.J., Siegel-Sadewitz, V.L., Amato, J., Goldberg, R.B., Opitz, J.M., Reynolds, J.F. (1985) Anomalies associated with cleft lip, cleft palate, or both. American Journal of Medical Genetics, 20(4): 585-595
Society for Maternal-Fetal Medicine (SMFM) Publications Committee (2016) SMFM Statement: Ultrasound Screening for Fetal Microcephaly Following Zika Virus Exposure. American Journal of Obstetrics and Gynecology, 214(6): B2-B4
Spalldi-Barišić, L., Stanojević, M., Kurjak, A., Porović, S., Gaber, G. (2017) Diagnosis of fetal syndromes by three and four-dimensional ultrasound: Is there any improvement?. Journal of Perinatal Medicine, 45(6): 651-665
Sperber, G.H. (1989) Cranifacial embryology. London: Wright, 4th edition
Stanojevic, M., Talic, A., Miskovic, B., Vasilj, O., Shaddad, A.N., Ahmed, B., Kadic-Salihagic, A., Predojevic, M., Vladareanu, R., Lebit, D., Abu-Yaqoub, S., Al-Noobi, M. (2011) An Attempt to Standardize Kurjak's Antenatal Neurodevelopmental Test: Osaka Consensus Statement. Donald School Journal of Ultrasound in Obstetrics and Gynecology, 5: 317-329
Stanojevic, M., Antsaklis, P., Kadic-Salihagic, A., Predojevic, M., Vladareanu, R., Vladareanu, S., Neto, R.M. (2015) Is Kurjak Antenatal Neurodevelopmental Test Ready for Routine Clinical Application? Bucharest Consensus Statement. Donald School Journal of Ultrasound in Obstetrics and Gynecology, 9(3): 260-265
Talic, A., Kurjak, A., Stanojevic, M., Honemeyer, U., Badreldeen, A., Direnzo, G.C. (2012) The assessment of fetal brain function in fetuses with ventrikulomegaly: The role of the KANET test. Journal of Maternal-Fetal & Neonatal Medicine, 25(8): 1267-1272
Talic, A., Kurjak, A., Ahmed, B., Stanojevic, M., Predojevic, M., Kadic-Salihagic, A., di Renzo, G.C. (2011) The potential of 4D sonography in the assessment of fetal behavior in high-risk pregnancies. Journal of Maternal-Fetal & Neonatal Medicine, 24(7): 948-954
Teoh, M., Meagher, S. (2003) First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome. Ultrasound in Obstetrics and Gynecology, 21(6): 616-618
Tonni, G., Castigliego, A.P., Grisolia, G., Lituania, M., Meagher, S., Da, S.C.F., Júnior, E.A. (2016) Three-dimensional ultrasonography by means of HDlive rendering in the first trimester of pregnancy: A pictorial review. Journal of the Turkish German Gynecological Association, 17(2): 110-119. Published online 2016 Jan 12
Toriello, H.V., Meck, J.M. (2008) Statement on guidance for genetic counseling in advanced paternal age. Genetics in Medicine, 10(6): 457-460
Tsai, M.Y., Lan, K.C., Ou, C.Y., Chen, J.H., Chang, S.Y., Hsu, T.Y. (2004) 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. American Journal of Obstetrics and Gynecology, 190(2): 541-546
van der Linden, V., Pessoa, A., Dobyns, W., Barkovich, A.J., van der Linden, H.J., Filho, E.R., et al. (2016) Description of 13 Infants Born During October 2015-January 2016 with Congenital Zika Virus Infection Without Microcephaly at Birth, Brazil. MMWR, 65(47);1343 - 1348
Wang, R., Martínez-Frías, M.L., Graham, J.M.Jr. (2002) Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. Journal of Pediatrics, 141(5): 611-617