We review the international literature apropos of a representative case documented both with 2D and 3D ultrasound.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Holoprosencephaly is a heterogeneous entity characterized by defects of the mid forebrain and face, due to the impaired midline cleavage of the embryonic forebrain and is one of the most common developmental disorders of the brain.
📊
Key Findings & Data:Prenatal diagnosis of cerebral abnormalities with the conventional two-dimensional (2D) ultrasound is well documented.
💡
Conclusion & Impact:We review the international literature apropos of a representative case documented both with 2D and 3D ultrasound.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Ultrasonografi · Görüntüleme · üç boyutlu
Abstract
Holoprosencephaly is a heterogeneous entity characterized by defects of the mid forebrain and face, due to the impaired midline cleavage of the embryonic forebrain and is one of the most common developmental disorders of the brain. Prenatal diagnosis of cerebral abnormalities with the conventional two-dimensional (2D) ultrasound is well documented. Accompanying anomalies such as facial deformities and holoprosencephaly, have recently been described with the use of three-dimensional (3D-4D) ultrasound. The application of this novel diagnostic modality seems to increase accuracy and sensitivity of prenatal ultrasound. We review the international literature apropos of a representative case documented both with 2D and 3D ultrasound.
ATHANASIADIS, A. P., CHATZIGEORGIOU, K. N., TZANNATOU, C., MİKOS, T., GRIMBIZIS, G., BONTIS, J. N. (2005). Prenatal diagnosis of cyclops, proboscis holoprosencephaly with 4D ultrasound: Review of the literature apropos of an illustrative case. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 11 - Sayı: 2, 124–126. https://ajindex.com/articles/227573
Ming JE, Muenke M. Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly. Am J Hum Genet 2002
Lai TH, Chang CH, Yu CH, Kuo PL, Chang FM. Prenatal diagnosis of alobar holoprosencephaly by two dimensional and three-dimensional ultrasound. Preriat.Diagn 2000
Peebles DM. Holoprosencephaly. Prenat Diagn 1998
Blaas H-G K, Eriksson AG, Salvesen KA et al. Brains and faces in holoprosencephaly: pre- and posnatal description of 30 cases. Ultrasound Obstet Gynecol 2002
Matsunaga E, Shiota K. Holoprosencephaly in human embryos. Epidemiologic studies of 150 cases. Teratology 1977
Pilu G & Nicolaides K. Central nervous system. In: Diagnosis of fetal abnormalities. Pilu G & Nicolaides K. (Eds) The 18-23 week scan. Parthenon Publishing, New York 1999:5-18. 7.Yamada S, Uwabe C, Fujii S, Shiota K. Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection. Birth Defects Res Part A Clin Mol Teratol. 2004
Cohen MM, Shiota K. Teratogenesis of Holoprosencep haly. Am J Med Genet 2002
Cohen MM Jr. The nose. In: Stevenson RL, Hall JG, eds. Human malformations. New York: Oxford 1993
Mehta L, Petrikovsky B, Tydings L, Lundberg J. Lateral nasal proboscis: antenatal diagnosis and counseling. Obstet Gynecol. 1999
English GM. Congenital anomalies of the nose, nasopharynx, and paranasal sinuses. In: English, G.M. (Ed.). English Otolaryngology, Philadelphia: J. B. Lippincott 1992:1-39. 12.Pashley NRT. Congenital anomalies of the nose. In: Cummings, C.W., Fredrickson, J.M., Haricer, L.A., Kause, C.J., Schuller, D.E. (Eds). Otolaryngology— Head and Neck Surgery, 2nd edn, Mosby 1993:702-12. 13.Greene MF, Benacerraf BR, Frigoletto FD. Reliable criteria for the prenatal sonographic diagnosis of AH. Am J Obstet Gynecol 1987
Nguyen Tan Lung R, Blanchon Y, Ciraru-Vigneron N, Rabbe A, Sauvanet E, Barrier J. Antenatal diagnosis of holoprosencephaly and its consequences. Apropos of 2 cases. J Gynecol Obstet Biol Reprod (Paris) 1989
Chervenak FA, Isaacson G, Hobbins JC, Chitkara U, Tortora M, Berkowitz RL. Diagnosis and management of fetal holoprosencephaly. Obstet Gynecol 1985
Nyberg DA, Mack LA, Bronstein A, Hirsch J, Pagon RA. Holoprosencephaly: prenatal sonographic diagnosis. AIR 1987
Sepulveda W, Dezerega V, Be C. First-trimester sonographic diagnos