Reproductive Flashcards
Sonic hedgehog gene
Produced at base of limbs in zone of polarizing activity.
Involved in patterning along anterior-posterior axis. Involved in CNS development
Mutations in Sonic hedgehog gene
Can cause holoproscencephaly
Wnt-7 gene
Produced at apical ectodermal ridge (thickened ectoderm at distal end of each developing limb).
Necessary for proper organization along dorsal-ventral axis
FGF gene
Produced at apical ectodermal ridge. Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs.
Homeobox (Hox) genes
Involved in segmental organization of embryo in craniocaudal direction.
Hox mutations result in..
appendages in wrong locations
Day 0 of fetal development
Fertilization by sperm forming zygote, initiating embryogenesis
Within week 1 of fertilization
hCG secretion begins after implantation of blastocyst
*pregnancy test can detect hCG levels within 7-11 days of fertilization
Within week 2 of fertilization
Bilaminar disc (epiblast, hypoblast)
2 weeks = 2 layers
Within week 3 of fertilization
Trilaminar disc. 3 weeks = 3 layers (ectoderm, mesoderm, endoderm)
Gastrulation
Primitive streak, notochord, mesoderm, and its organization and neural plate begin to form
Within weeks 3 - 8 of fertilization (embryonic period)
Neural tube formed by neuroectoderm and closes by week 4
Organogenesis
Extremely susceptible to teratogens
Within week 4 of fertilization
Heart begins to beat
Upper and lower limb buds begins to form
“4 weeks = 4 limbs”
Within week 8 (start of fetal period)
Fetal movement, fetus looks like a baby
Within 10 weeks of fertilization
Genitalia have male/female characteristics
Gastrulation
Process that forms the trilaminar embryonic disc. Establishes the ectoderm, mesoderm, and endoderm germ layers.
Starts with the epiblast invagination to form the primitive streak.
Three layers of ectoderm
Surface ectoderm
Neuroectoderm
Neural crest
Surface ectoderm derivatives
Adenohypophysis (from Rathke's pouch); lens of eye; epithelial linings of oral cavity; sensory organs of ear olfactory epithelium; epidermis; anal canal BELOW the pectinate line Parotid, sweat, and mammary glands
Derivatives of neuroectoderm
Brain (neurohypophysis) CNS neurons Oligodendrocytes Astrocytes Ependymal cells Pineal glands Retina and optic nerve Spinal cord
Neural crest derivatives
PNS (dorsal root ganglia, cranial nerves, celiac ganglion, Schwann cells, ANS) Melanocytes Chromafiin cells of adrenal medulla Parafollicular ("C") cells of thyroid Pia and arachnoid Bones of skull Odontoblasts Aorticopulmonary septum
Craniopharyngioma
benign Rathke’s pouch tumor with cholesterol crystals, calcifications
commonly seen in young children
Mesoderm derivatives
Muscle, bone, connective tissue
Seroud linings of body cavities (e.g. peritoneum)
Spleen (derived from foregut mesentary)
CV structures, lymphatics, blood
Wall of gut tube, wall of bladder, urethra, vagina, kidneys, adrenal cortex, dermis, testes, ovaries
Notochord induces ectoderm to form what structure?
Neuroectoderm (neural plate)
Postnatal derivative of the notochord
Nucleus pulposus of the intervertebral disc
Endoderm derivatives
Gut tube epithelium (including anal canal ABOVE the pectinate line) and luminal epithelial derivatives (e.g. lungs, liver, gallbladder, pancreas, eustachian tube, thymus, parathyroud, thyroid follicullar cells)
Mesodermal defects
VACTERL V-ertebral defects A-nal atresia C-ardiac defects T-racheo-Esophageal fistula R-enal defects L-imb defects (bone and muscle)
Endoderm
Agenesis
Agenesis
absent organ due to absent primordial tissue
Aplasia
Absent organ despite present primordial tissue
Deformation
extrinsic disruption; occurs AFTER the embryonic period
Hypoplasia
Incomplete organ development; primordial tissue present
Malformation
Intrinsic disruption; occurs DURING the embryonic period (weeks 3-8)
Teratogens most susceptible during which period?
3rd - 8 weeks (organogenesis) of pregnancy
Effects of teratogen on pregnancy before week 3 of pregnancy
All or none effects
Teratogen effects after 8th weeks of pregnancy
Growth and function affected
ACE inhibitor effects on fetus
renal damage
Alkylating agents effects on fetus
Absence of digits, multiple anomalies
Aminoglycosides effect on fetus
CN VIII toxicity
Carbamazepine effects on fetus
Neural tube defects Craniofacial defects Fingernail hypoplasia Developmental delay IUGR
Diethylstilbestrol effects on fetus
Vaginal clear cell adenocarcinoma, congenital Mullerian anomalies
Folate antagonists’ effect on fetus
Neural tube defects
Lithium’s effect on fetus
Ebstein’s anomaly (atrialized right ventricle)
Phenytoin’s effect on fetus
Fetal hydantoin syndrome Microencephaly Dysmorphic craniofacial features Hypoplasit nails and distal phalanges Cardia defects IUGR mental retardation
Tetracyclines’ effect on fetus
Discolored teeth
Thalidomide’s effects on fetus
Limb defects (“flipper” limbs)
Valproate’s effects on fetus
Inhibition of maternal folate absorption –> neural tube defects
Warfarin’s effect on fetus
Bone deformities, fetal hemorrhage, abortion, opthalmologic abnormalities
*Use heparin as an alternative
Alcohol’s effect on fetus
Leading cause of birth defect and mental retardation; fetal alcohol syndrome
Cocaine’s effect on fetus
Abnormal fetal development and fetal addiction; placental abruption
Smoking’s effect on fetus (e.g. nicotine, CO)
Preterm labor, placental problems, IUGR, ADHD
Iodide (lack or excess) effect on fetus
Congenital goiter or cretinism
Maternal Diabetes’ effect on fetus
Caudal regression syndrome (anal atresia to sirenomelia)
Congenital heart defects
Neural tube defects
Transient HYPOglycemia due to fetal islet cell hyperplasia
Vitamin A (excess) effects on fetus
Extremely high risk for spontaneous abortion and birth defects (cleft palate, cardiac abnormalities)
X-rays’ effect on fetus
Microcephaly and mental retardation
Fetal alcohol syndrome
Leading cause of congenital malformations in the US
Increased incidence of congenital abnormalities, mental retardation, pre- and postnatal developmental retardation, microcephaly, holoproscencephaly, facial abnormalities, limb dislocation, and heart and lung fistulas
Dizygotic twins
arise from 2 eggs that are separately fertilized by 2 different sperm
(always 2 different zygotes) will have 2 separate amniotic sacs and 2 separate placentas
Monozygotic twins
arise from 1 fertilized egg (1 egg + 1 sperm) that splits into 2 zygotes early in the process
When does cleavage occur for most monozygotic twins?
4-8 days (after formation of morula)
- formation of monochorionic diamniotic
Zygote cleavage after 0-4 days occurs when
Dichorionic diamniotic (fused placenta or separate placenta)
Fertilized egg cleavage after 8-12 days (blastocyst stage) results in …
monochorionic diamniotic
Zygotic cleavage after embryonic disc formation (>13 days) results in …
monochorionic monoamniotic (conjoined twins)
Placenta
1st site of nutrient and gas exchange
Cytotrophoblast
inner layer of chorionic villi
Syncytotrophoblast
Outer blast of chorionic villi
secretes hCG (similar to LH)
stimulates corpus luteum to secrete progesterone during 1st trimester of pregnancy
Decidua basalis
derived from endometrium
maternal blood in lacunae
Umbilical arteries (2)
return deoxygenated blood from fetal internal iliac arteries to placenta
Umbilical VEIN - only ONE
supplies oxygenated blood from placenta to fetus; drains via ductus venosus into IVC
T/F. Single umbilical artery is phenotypically normal.
Single umbilical artery is associated with congenital and chromosomal arteries.
Umbilical arteries and veins are derived from….
Allantois
Urachal duct
formed in 3rd week
Yolk sac forms allantois, which extends into urogenital sinus. Allantois becomes urachus, a duct between bladder and yolk sac
Patent urachus
results in urine discharge from the umbilicus
Failure of urachus to obliterate:
Vesicourachal diverticulum – outpouching of the bladder
Vitelline duct
formed in 7th week - obliteration of vitelline duct (omphalo-mesenteric duct), which connects yolk sac to midgut lumen