HIGH-YIELD EMBRYOLOGY

EARLY EMBRYOLOGY Capacitation pruning of the sperm glycocalyx; permits the sperm-oocyte interaction Ectopic pregnancy implantation occurs outside of the uterine cavity; can occur in the uterine tubes or in the pelvic cavity Placenta previa implantation occurs near the cervix; provides a high risk of bleeding Placental abruption placenta becomes detached Placenta accreta abnormal adherence of the chorionic villi to the myometrium Placenta percreta villi penetrate the full thickness of the myometrium Hydatidiform moles cn give rise to choriocarcinomas or persistent trophoblastic disease Complete a cystic swelling of the uterus that forms when an embryo dies and the chorionic villi fail to vascularize; fertilization of empty oocyte (contains only paternal chromosomes); produces high levels of hCG Partial derives from a poorly developed embryo; always haploid and produce hCG Dizygotic (fraternal) twins arises from multiple ovulations (high levels of FSH) Monozygotic (identical) twins arise from splitting of a single zygote Human chorionic gonadotrophin (hCG) secreted by syncytiotrophoblast Progesterone secreted by corpus luteum for five months, then by placenta; contraceptive pill and RU-486 are anti-progesterones Gastrulation process where the epiblast gives rise to mesoderm, endoderm and ectoderm Notochord derives from both endoderm and mesoderm; forms the nucleus pulposus Sirenomelia caudal dysgenesis from inadequate mesoderm; lower limb defects Sacrococcygeal teratoma persistence of primitive streak, forms multi-tissue tumor Alpha-fetoprotein liver glycoprotein; leaks into amniotic fluid with neural tube or ventral wall defects Spina bifida occulta incomplete neural arch, patch of hair over defect CARDIOVASCULAR Splanchnic mesoderm forms the primitive hear tube; beats on day 22 Pleuropericardial membranes form the pericardium and pleura (somatic parts) Tetralogy of Fallot a combination of four heart defects: 1. pulmonary stenosis 2. right ventricular hypertrophy 3. ventricular septal defect 4. over-riding aorta Undivided truncus arteriosus neural crest defect where the bulbar regions fail to form Patent ductus arteriosus common defect associated with rubella and pregnancies occurring in high altitudes; more common in females Atrial septal defect patent foramen ovale, common, can involve defect in septum primum or septum secundum Ventricular septal defect common; involves the membranous part of the interventricular septum Transposition of the great vessels most common cause of cyanosis in newborn Veins Vitelline left disappears, right forms portal system Umbilical right disappears, left drains placenta (becomes ligamentum teres hepatis) Cardinal Subcardinal drains kidneys Sacrocardinal common iliac Supracardinal drains body wall (azygos veins) Ductus venosus between left umbilical and right vitelline veins; forms ligamentum venosum RESPIRATORY Early development begins in the 4th week; derived from the gut tube; lungs become viable during the 24th gestational week due to secretion of surfactant; formation of most alveoli occurs between birth and the 8th year Tracheoesophageal Fistulas abnormal connections between esophagus and airway, usually involves a proximal esophagus that ends in a blind pouch and a distal esophagus that connects to the trachea VACTERL Association combination of defects that arise from exposure to high levels of estrogens/progesterones during the embryonic period (weeks 3 9) NERVOUS SYSTEM Early development notochord induces formation of neural plate which gives rise to neural crest and neural tube Notochord persists as the nucleus pulposus of the intervertebral disc 1

Neural tube alar plate is dorsal (sensory); basal plate is ventral (motor) Neural crest gives rise to all ganglia, Schwann cells, meninges, melanocytes, cartilage, bone and blood vessels of the head Spina bifida cystica incomplete closure of the neural tube caudally (caudal neuropore on day 27); can be detected by alpha-fetoprotein and includes a sac containing CSF meningocele sac includes meninges and CSF meningomyelocele includes nervous tissue Anencephaly result when the anterior neuropore fails to close (day 25); forebrain is poorly developed Arnold-Chiari malformation cerebellum herniates through the foramen magnum; seen in conjunction with spina bifida cystica accompanied by hydrocephalus Hydrocephalus most often due to stenosis of the cerebral aqueduct secondary to a fetal viral infection Mental retardation most commonly caused by maternal alcohol abuse GASTROINTESTINAL Omphalocele occurs when the intestines do not return to the abdominal cavity following normal herniation; the guts are covered by the amniotic sac Umbilical hernia guts protrude outside of the abdominal cavity but covered with skin and connective tissue Congenital pyloric stenosis characterized by projectile vomiting in a newborn Atresia interruption of the gastrointestinal tract; at esophagus vomit contains uncurdled milk; at gastric region the vomit contains curdled milk; at the duodenum the vomit contains bile Meckels diverticulum a remnant of the vitelline stalk and yolk sac, exists as an outward projection of the distal ilium about one meter form the ileocecal junction that can contains gastric or pancreatic tissue; found in about 2% of the population Hirschsprungs disease occurs when the hindgut fails to be invaded by migrating neural crest cells, results in hypomobility, constipation and congenital megacolon Imperforate anus the anal membrane does not regress Vitelline Fistula connection between the midgut and umbilicus UROGENITAL Derivatives of the genital ducts: male high level of testosterone stimulates development of the mesonephric duct; Mullerian inhibiting factor prevents development of paramesonephric ducts female low level of testosterone prevents development of mesonephric ducts and no Mullerian inhibiting factor permits development of the paramesonephric ducts Mesonephric ducts: male: epididymis, ductus deferens, seminal vesicle and ejaculatory duct female: epoophoron, paroophoron, Gartners duct Paramesonephric duct: male: appendix of testes and prostatic utricle female: uterine tube, uterus and superior part of vagina Horseshoe Kidney occurs when the inferior poles of the kidneys contact each other before ascent; the kidneys fuse and ascent to the lumbar region is prevented by the inferior mesenteric artery Bifid ureter involves the ureteric bud Epispadias rare; seen with exstrophy of the bladder Hypospadias common; opening on the ventral aspect of the penis; results from a failure of urethral folds to completely meet Turners syndrome 45 XO; infantile female genitalia, ovarian streaks and webbed neck Klinefelters syndrome 47 XXY; common (1/500); gynecomastia, infertile males External Genitalia: after week 9 the genitalia can be distinguished as male or female! MALE FEMALE UG folds floor of urethra labia minora Genital swellings scrotum labia majora Genital tubercle penis clitoris UG sinus urethra/prostate urethra/vagina Gonads develop from epiblast and migrate along the yolk sac and mesentery to the lumbar region Hydrocele fluid in the cavity of the tunica vaginalis from a patent processus vaginalis Urachal Fistula connection from bladder to umbilicus Pharyngeal Apparatus HEAD AND NECK 2

Clefts (Grooves) four pairs; ectoderm that forms only epithelium The first cleft gives rise to the external auditory meatus. The second through fourth clefts typically regress; may form a cervical sinus. Pouches four pairs; endoderm that forms only epithelium The first pouch gives rise to the auditory tube, mastoid antrum and tympanic cavity. The second pouch forms the palatine tonsil. The third pouch gives rise to the thymus and inferior parathyroid gland. The fourth pouch gives rise to the superior parathyroid Pharyngeal Arches There are five pharyngeal arches; mesoderm forms skeletal muscle; neural crest grows into each arch and forms all connective tissue (cartilage, bone and blood vessels) Derivatives of the Pharyngeal Arches First Second Third Fourth Sixth CN V3 Nerve CN VII CN IX CN X CN X muscles of facial stylopharyngeus muscles of palate, muscles of larynx, mastication, anterior muscles, pharynx and inferior belly of digastric, stapedius, cricothyroid constrictor, mylohyoid, tensor posterior cricopharyngeus Muscles tympani and tensor belly of and superior veli palatini digastric portion of and esophagus stylohyoid maxillary hyoid and common and left: portion of Pulmonary trunk stapedial internal carotid arch; right: part (left - ductus Artery one of subclavian arteriosus) malleus and incus stapes, greater horn and laryngeal cartilagelaryngeal cartilage styloid inferior portion of process, body of hyoid lesser horn and superior portion of body of hyoid

Cartilage

Torticollis This is a condition characterized by a shortening of the sternocleidomastoid muscle and results in an elevation of the chin to the opposite side; can be caused by damage to the muscle, spinal accessory nerve or can be congenital. Cysts of the Neck Lateral cervical cysts (branchial fistula) arises from the second through fourth pharyngeal clefts Midline cysts most often arise from a remnant of the thyroglossal duct (thyroglossal duct cysts) Cleft Lip Results from failure of the maxillary prominence to join the medial nasal prominences to form the intermaxillary segment (primary palate derives from intermaxillary segment) Cleft Palate Anterior cleft anterior to incisive foramen; lateral palatine process fails to fuse with primary palate Posterior cleft occurs through the 2 palate where lateral palatine process dont fuse or meet nasal septum Complete cleft involves both the primary and secondary palate

MISCELLANEOUS Situs inversus reversal of organs; can involve all organs or just single organs (heart dextrocardia) Diaphragm develops from the septum transversum, pleuroperitoneal membranes, paraxial mesoderm and dorsal mesentery of the esophagus Congenital diaphragmatic hernia results from a failure of the pleuroperitoneal fold to close the pericardioperitoneal canal; most common on the left side Stem villi - form from trophoblast and somatic layer of extraembryonic mesoderm 3

Intervillous space contains maternal blood CHANGES AT BIRTH umbilical arteriespaired medial umbilical ligaments umbilical veins round ligament of liver urachus median umbilical ligament foramen ovale fossa ovalis ductus arteriosus ligamentum arteriosum ductus venosus ligamentum venosum