Abstract
Normal human development is a continuum. However, unfortunate interruptions in this ongoing process can result in abnormal development and subsequent congenital anomalies. These anomalies can be the result of many etiologic factors. Approximately 3 % or greater of pregnancies are complicated by congenital anomalies. The purpose of this chapter is to provide the clinician or sonographer with the essential basics of embryological and fetal development, to better understand mechanisms of normal and abnormal first-trimester human development. Understanding of these mechanisms is imperative for adequate evaluation of the first-trimester fetus in the ultrasound laboratory.
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References
Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med. 1989;320(1):19–23.
Hubaud AH, Pourquie O. Signalling dynamics in vertebrate segmentation. Nat Rev Mol Cell Biol. 2014;15:709–21.
Patthey C, Gunhaga L. Signaling pathways regulating ectodermal cell fate choices. Exp Cell Res. 2014;321(1):11–6.
Dutta D. Signaling pathways dictating pleuropotency in embryonic stem cells. Int J Dev Biol. 2013;57(9-10):667–75.
Sui L, Bouwens L, Mfopou JK. Signaling pathways during maintenance and definitive endoderm differentiation of embryonic stem cells. Int J Dev Biol. 2013;57(1):1–12.
Moore KL, Persaud TVN, Torchia MG. The developing human: clinically oriented embryology. 9th ed. Philadelphia, PA: Elsevier Saunders; 2013.
Downs KM. Enigmatic primitive streak: prevailing notions and challenges concerning the body axis of mammals. Bioessays. 2009;31(8):892–902.
Solnica-Krezel L, Sepich DS. Gastrulation: making and shaping germ layers. Annu Rev Cell Dev Biol. 2012;28:687–717.
Hardin J, Waston T. Models of morphogenesis: the mechanism of and mechanics of cell rearrangement. Curr Opin Genet Dev. 2004;14:399–406.
Flake AM. The fetus with sacrococcygeal teratoma. In: Adzick NS, Holzgrev W, editors. The unborn patient: the art and science of fetal therapy. 3rd ed. Philadelphia, PA: WB Saunders; 2001.
Ruiz I, Altaba A. Induction and axial patterning of the neural plate: planar and vertical signals. J Neurobiol. 1993;24(10):1276–304.
Greene ND, Copp AJ. Development of the vertebrate central nervous system: formation of the neural tube. Prenat Diagn. 2009;29(4):303–11.
Copp AJ, Greene ND. Genetics and development of neural tube defects. J Pathol. 2010;220(2):217–30.
Mayor R, Theveneau E. The neural crest. Development. 2013;140(11):2247–51.
Takahashi Y, Sipp D, Enomoto H. Tissue interactions in neural crest development and disease. Science. 2013;341(6148):860–3.
Mayer S, Metzger R, Kluth D. The embryology of the diaphragm. Semin Pediatr Surg. 2011;20(3):161–9.
Clugston RD, Greer JJ. Diaphragmatic development and congenital diaphragmatic hernia. Semin Pediatr Surg. 2007;16(2):94–100.
Hinrichsen K. The early development of morphology and patterns of the face of human embryos. Adv Anat Embryol Cell Biol. 1985;98:1–79.
Holinger LD. Congenital anomalies of the larynx. Congenital anomalies of the trachea and bronchi. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson’s textbook of pediatrics. 17th ed. Philadelphia, PA: WB Saunders; 2004.
Magnuson DK, Parry RL, Chwals WJ. Selected abdominal gastrointestinal anomalies. In: Martin RJ, Fanaroff AA, Walsh MC, editors. Fanaroff and Martin’s Neonatal-perinatal medicine: diseases of the fetus and infant. 8th ed. Philadelphia, PA: Mosby; 2006.
Persaud TVN, Hay JC. Normal embryonic and fetal development. In: Reece EA, Hobbins JC, editors. Clinical obstetrics: the fetus and mother. 3rd ed. Oxford: Blackwell Publishing; 2006.
Jones KL. Smith’s recognizable patterns of human malformation. 7th ed. Philadelphia, PA: Elsevier/WB Saunders; 2006.
Bronschstein M, Blazer S, Zimmer EZ. The fetal gastrointestinal tract and abdominal wall. In: Callen PW, editor. Ultrasonography in obstetrics and gynecology. 5th ed. Philadelphia, PA: WB Saunders; 2008.
Kerecuk L, Schreuder MF, Woolf AS. Renal tract malformations: perspectives for nephrologists. Nat Clin Pract Nephrol. 2008;4(6):312–25.
Manner J. The anatomy of cardiac looping: a step towards the understanding of the morphogenesis of several forms of cardiac malformations. Clin Anat. 2009;22(1):21–35.
Bajolle F, Zaffran S, Bonnet C. Genetics and embryological mechanisms of congenital heart disease. Arch Cardiovasc Dis. 2009;102(1):59–63.
Vincent SD, Buckingham ME. How to make a heart: the origin and regulation of cardiac progenitor cells. Curr Top Dev Biol. 2010;90:1–41.
Moore KL, Persaud TVN, Torchia MG. Before we are born: essentials of embryology and birth defects. 8th ed. Philadelphia, PA: Elsevier Saunders; 2013.
Penny DJ, Vick GW. Ventricular septal defect. Lancet. 2011;377(9771):1103–12.
Yang Y, Oliver G. Development of the mammalian lymphatic vasculature. J Clin Invest. 2014;124(3):888–97.
Nadel A, Bromley B, Benacerraf BR. Nuchal thickening or cystic hygroma in first- and early second-trimester fetuses: prognosis and outcome. Obstet Gynecol. 1993;82(1):43–8.
Brady AF, Pandya PP, Yuksel B, Greenough A, Patton MA, Nicolaides KH. Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks’ gestation. J Med Genet. 1998;35(3):222–4.
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Jones, C.W., Penzkover, D., Pollard, R., Kuhlmann, R.S. (2016). First-Trimester Embryology: An Overview. In: Abramowicz, J. (eds) First-Trimester Ultrasound. Springer, Cham. https://doi.org/10.1007/978-3-319-20203-7_4
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DOI: https://doi.org/10.1007/978-3-319-20203-7_4
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