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Step1: Embryo

Urine discharge from umbilicus Patent urachus, failure of urachus to obliterate + persistant allantois remnant. In the 3rd wk, yolk sac forms allantois, and allantois becomes urachus, duct between bladder and yolk sac. A patent urachus connects bladder to umbilicus.
Outpouching of bladder Vesicourachal diverticulum, failure of urachus to obliterate, persistant allantois remnant. Failure to close the part of urachus adjacent to the bladder. Commonly asymptomatic.
Failure to close the distal part of urachus (adjacent to the umbilicus) Urachal sinus; perimumbilical tenderness, discharge from umbilicus from recurrent infections
Failure of central part of urachus to obliterate Urachal cyst. Fluid filled structure between 2 obliterated ends of the urachus. Commonly asymptomatic.
Omphalocele Imcomplete closure of the anterior abdominal wall during development, presents with a ventral opening at the umbilicus with protruding viscera covered by peritoneum
Gastroschisis Inadequate enlargement of peritoneal cavity, viscera protrude thru the anterior abdominal wall ADJACENT to the umbilicus and are NOT covered by peritoneum
Hypospadias Urethral opening is located on the ventral surface of the penis, associated with downward curvature in the penis, associated with failure of urethral folds to close
Epispadias Abnormal opening of penile urethra on dorsal side of penis, due to faulty positioning of genital tubercle
Persistent yolk sac (vitelline duct) Connects small intestine with the skin at the umbilicus. Incomplete obliteration of the vitelline (OMPHALOMESENTERIC) duct results in Meckel diverticulum
Sonic hedgehog gene Involved in patterning along ANTERIOR - POSTERIOR axis, produced at base of limbs in zone of polarizing activity
Wnt-7 gene Organization along DORSAL - VENTRAL axis, produced at apical ectodermal ridge
FGF gene Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs, produced at apical ectodermal ridge
Homeobox genes (HOX) Hox mutations --> appendages in wrong places, involved in segmental organization of embryo in craniocaudal direction
Fetus Day 0 Fertilization
Fetus Week 1 hCG secretion, after implantation of blastocyst
Fetus Week 2 2 bilaminar discs - epiblast, hypoblast 2 cavities: amniotic cavity, yolk sac 2 components to placenta: cytotrophoblast, syncytiotrophoblast
Fetus Week 3 3 germ layers: ectoderm, mesoderm, endoderm --> gastrulation
Fetus Weeks 3-8 Organogenesis. Neural tube closes by wk 4.
Fetus Week 4 4 heart chambers. 4 limb buds begin to grow.
Fetus Week 8 Fetal pd begins. Fetal movement, starts to look like a baby.
Fetus Week 10 Gentialia have male/female characteristics
Neural plate Gives rise to neural tube and neural crest cells
Notochord Becomes nucleus pulposus of IV disc in adults.
Malformation Intrinsic disruption, occurs during embryonic pd (wk 3-8)
Deformation Extrinsic disruption, occurs after embryonic pd
Agenesis Absent organ, due to absent primordial tissue
Aplasia Absent organ, despite present primordial tissue
Hypoplasia Incomplete organ development, primordial tissue present
ACE inhibitors Renal damage
Alkylating agents Absence of digits, multiple anomalies
Aminoglycosides CN VIII toxicity
Carbamazepine Neural tube defects, craniofacial defects, fingernail hypoplasia, developmental delay, IUGR
DES Clear cell adenocarcinoma of vagina
Folate antagonists Neural tube defects
Lithium Ebstein's anomaly (atrialized right ventricle)
Phenytoin Fetal hydantoins syndrome: microcephaly, cardiac defects, IUGR, mental retardation, dysmorphic craniofacial features, hypoplastic nails
Tetracyclines Discolored teeth
Thalidomide Limb defects ("flipper limbs")
Valproate Inhibition of maternal folate absorption --> neural tube defects
Warfarin Bone deformities, fetal hemorrhage, abortion, opthalmologic abnormalities
Alcohol FAS
Cocaine Placental abruption, abnormal fetal development and fetal addiction
Smoking Preterm labor, placental problems, IUGR, ADHD
Maternal diabetes Caudal regression syndrome - anal atresia to sirenomelia, congenital heart defects, neural tube defects
Vit A excess Cleft palate, cardiac abnormalities, spontaneous abortion
Fetal erythropoiesis 3-8 wk = yolk sac 6-20 wk = liver 9-28 wk = spleen 28 wk + = bone marrow
Neural tube defects Neuropores fail to fuse 4th wk. Persistent connection between amniotic cavity and spinal canal. Associated with LOW folic acid intake during pregnancy. ELEVATED alpha-fetoprotien in amniotic fluid and maternal serum.
Telencephalon (forebrain) Cerebral hemispheres, lateral ventricles
Diencephalon (forebrain) Thalamus, 3rd ventricle
Mesencephalon (midbrain) Midbrain, Aqueduct
Metencephalon (hindbrain) Pons, upper part of 4th ventricle AND Cerebellum
Myelencephalon Medulla, lower part of 4th ventricle
Truncus arteriosus rise to... Ascending aorta and pulmonary trunk
Bulbus cordis rise to... Rt ventricle and smooth parts (outflow tract of left and right ventricle)
Primitive ventricle rise to... trabelculated left and right ventricles
Primitive artria rise to... Trabeculated left and right atrium
Left horn of sinus venosus rise to... Coronary sinus
Right horn of SV rise to... Smooth part of right atrium
Right common cardinal vein and right anterior cardinal vein rise to... SVC
Abnormal neural crest cell migration in heart Tetralogy of Fallot, transposition of great vessels, persistent TA
Endocardial cushion defects Defects of AV septum. Initially acyanotic, form a L--> R shunt. Over time, pulmonary HTN leads to reversal of blood flow (EISENMENGER) and development of cyanotic symptoms
Aortic Arch constriction Coarctation of the aorta - there is a discrepancy between LE and UE blood pressures
Pulmonary HTN NORMAL IN UTERO. Following birth, resistance drops considerably.
Abnormal primitive heart looping Misplaced inflow and outflow tracts. Leads to severe cardiac malformations.
Ductus arteriosis Derived from 6th aortic arch. PDA can cause a thrill and a continuous murmur on physical exam. Indomethacin can be used to close PDA, while prostaglandins can maintain patency.
Hirshsprung's disease Failure of migration - failure of neural crest cells to migrate to intestinal wall. Leads to absence of myenteric and submucosal plexus.
Duodenal atresia Abnormal apoptosis -- duodenal lumen fails to recanalize during development. See signs of intestinal obstruction.
Neural tube defects FAILED FUSION. increase AFP and acetylcholinesterase in CSF.
VACTERL Group of anomalies typically seen together. Vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal defects, limb abnormalities
One of most common reasons for elevated AFP Underestimation of gestational age.
Bilateral absence of kidneys Potter's syndrome - consists of b/l renal aplasia, oligohydraminos (deficiency of amniotic fluid), characteristic fascies, and PULMONARY HYPOPLASIA (cause of death)
Lecithin (phosphatidycholine) : Sphingomyelin ration Lecithin increases more than sphingomyelin (which remains fairly constant) after 30 wks gestation. A ration >2 is indicative of mature lungs.
Non fusion of urethral folds in male HYPOSPADIAS
Faulty positioning of the genital tubercle in 5th wk of gestation EPISPADIAS
Pancreas divisum Improper fusion of dorsal and ventral pancreatic buds
Paramesonephric ducts In females, fuse to form uterine tubes, uterus, cervix, and superior 1/3 of the vagina - failure to fuse can cause a BICORNUATE UTERUS or UTERUS DIDELPHYS
Caudal regression syndrome Condition characterized by sacral agenesis causing LE paralysis and urinary incontinence; associated with POORLY CONTROLLED MATERNAL DIABETES
Vessel with highest blood ox saturation in fetus Umbilical vein, bypasses liver and goes to IVC
Horseshoe kidney Associated with TURNER's. Inferior poles of kidneys fuse
Created by: 092309



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