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Reproductive
FA complete review part 1A Embryology and Anatomy
| Question | Answer |
|---|---|
| List of important genes of Reproductive embryogenesis: | 1. Sonic hedgehog gene 2. Wnt-7 gene 3. Fibroblast growth factor (FGF) gene 4. Homeobox (Hox) genes |
| Where is the Sonic hedgehog gene produced? | At base of limbs in zone of polarizing activity |
| What is the involvement or role of the Sonic hedgehog gene? | Patterning along anteroposterior axis and CNS development |
| What condition is associated by a mutation to the Sonic hedgehog gene? | Holoprosencephaly |
| What gene is probably mutated in patient with Holoprosencephaly? | Sonic hedgehog gene |
| Gene of reproductive embryogenesis found limbs with polarizing activity | Sonic hedgehog gene |
| Where is Wnt-7 gene produced? | Apical ectodermal ridge |
| What gene is produced or found in the thickened ectoderm at distal end of each developing limb? | Wnt-7 gene |
| What is the role or involvement of the Wnt-7 gene? | Proper organization along dorsal-ventral axis |
| What gene dictates proper organization along the dorsal-ventral axis? | Wnt-7 gene |
| Where is the Fibroblast growth factor (FGF) gene produced? | Apical ectodermal ridge |
| Which important embryological genes are produced at the apical ectodermal ridge? | Wnt-7 gene and FGF gene |
| Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs. Gene? | Fibroblast Growth factor (FGF) gene |
| What is the function of the FGF gene? | Stimulate mitosis of underlying mesoderm, causing the lengthening of limbs. |
| Common used abbreviation of Homeobox gene? | Hox gene |
| What is the function or involvement of the Hox gene? | Segmental organization of embryo in a craniocaudal direction. |
| Code for transcription factors? | Homeobox genes |
| Hox mutations lead to: | Appendages in wrong locations |
| Neonates is seen with three arms at abnormal locations. Which is the probable gene mutated? | Homeobox genes |
| Hox mutation = | Wrong limb placement |
| On what day does fertilization occurs? | Day 0 |
| How many chromosomes (N) and Chromatids (C) are in a zygote on Day 1? | 2N (chromosomes) 4C (chromatids) |
| What is formed on Day 4 after Fertilization of the egg? | Morula |
| A day after the morula is formed, the ____________________ appears. | Blastocyst |
| Approximate day on which the Blastocyst is fully formed? | Day 5 |
| During which days after fertilization, does the implantation of the blastocyst into endometrium occurs? | Day 6-10 |
| What occurs on Day 6-10 after fertilization of egg? | Implantation |
| Into which tissue does the implantation occurs initially? | Endometrium |
| What is the inner lining of the uterus? | Endometrium |
| When does hCG secretion begins? (approximately) | Around the time of implantation of blastocyst |
| What occurs, in relation of hormone secretion, at time of implantation of the blastocyst? | Secretion of hCG |
| Approximate time when the Bilaminar disc appears? | Within week 2 |
| What ar the 2 layers found/produced in the bilaminar disc? | Epiblast and hypoblast |
| Around what week of embryogenesis is the trilaminar embryonic disc formed? | Within week 3 |
| How is the primitive streak formed? | Cells from epiblast invaginate |
| What type of tissue (embryological) are found in the primitive streak? | Endoderm, mesoderm, and ectoderm |
| What arises, around week 3 of embryogenesis, from the midline of the mesoderm? | Notochord |
| What happens to the overlying ectoderm of the primitive streak? | Becomes the neural plate |
| What forms the neural plate? | The overlying ectoderm of the primitive streak |
| Which weeks of embryogenesis make up the Embryonic period? | Weeks 3-8 |
| What actions/events take place during the Embryonic period? | 1. Neural tube formed by neuroectoderm and closes by week 4 2. Organogenesis |
| Which time/period is extremely susceptible to teratogens? | Weeks 3-8 |
| Neural tube is form by _____________________. | Neuroectoderm |
| At what week is the neural tube closed? | Week 4 |
| Events of Week 4 of embryogenesis: | 1. Heart begins to beat 2. Upper and lower limb buds begin to form |
| A newly beating heart in an embryo indicates how many weeks of pregnancy? | At least 4 weeks |
| Fetal cardiac activity visible by transvaginal ultrasound by week ____. | Week 6 |
| Approximate week of gestation at which fetal movements start? | Week 8 |
| What occurs at week 10 of embryogenesis? | Genitalia have male/female characteristics |
| What are the main divisions of Ectoderm? | 1. Surface ectoderm 2. Neural tube 3. Neural crest |
| The ectoderm is the _______________ _______________ layer. | External/ outer |
| Associated condition/tumor of the Surface ectoderm? | Craniopharyngioma |
| List of Surface ectoderm derivatives: | 1. Epidermis 2. Adenohypophysis (from Rathke's pouch) 3. Lens of eye 4. Epithelial linings of oral cavity, sensory organs of ear, and olfactory epithelium 5. Anal canal below the pectinate line 6. Parotid, sweat, mammary glands |
| Which part of the Pituitary gland is a surface ectoderm derivative? | Adenohypophysis |
| What part of the eye is of Surface ectoderm origin? | Lens of eye |
| What embryologic derivative makes up the lens of eye? | Surface ectoderm |
| Anterior pituitary gland is made from the ___________ __________. | Surface ectoderm |
| Surface ectoderm forms the epithelial lining of which structures: | Oral cavity, sensory organs of ear, and olfactory epithelium |
| Anal canal below the pectinate line is from which embryological tissue derivate? | Surface ectoderm |
| What are common glands originated from surface ectoderm? | Parotid, sweat, and mammary glands |
| Bening Rathke pouch tumor with cholesterol crystals, calcifications. Dx? | Craniopharyngioma |
| Why is a Craniopharyngioma associated as a Surface ectoderm malignancy? | It is a tumor of the Rathke pouch, which forms the adenohypophysis. |
| Above or below the pectinate line of the anal canal, is it made from Surface ectoderm? | Below |
| What are 3 main structures made from Neural tube? | 1. Brain, 2. Retina, and 3. Spinal cord |
| The neural tube gives rise to the brain, which is composed of: | Neurohypophysis, CNS neurons, Oligodendrocytes, Astrocytes, Ependymal cells, Pineal gland |
| Which gland is of Neural tube origin, and is part of the brain composition? | Pineal gland |
| What is the embryologic derivative to the Neurohypophysis? | Neural tube |
| Which Brain cells are of Neural tube origin? | CNS neurons, oligodendrocytes, astrocytes, and Ependymal cells |
| Which part of the eye is made of Neural tube? | Retina |
| Embryological derivatives of the Eye: Retina -----> Lens of Eye ----> | ------> Neural tube -------> Surface ectoderm |
| What can be a overly simplified way to remember structures made form the Neural crest? | PNS and non-neural structures nearby |
| List of Neural crest derivatives: | 1. Melanocytes 2. Myenteric (Auerbach) plexus 3. Odontoblasts 4. Endocardial cushions 5. Laryngeal cartilage 6. Parafollicular (C) cells of the thyroid 7. PNS 8. Adrenal medulla and all ganglia 9. Spiral membrane (aorticopulmonary septum) 10. Schwann cells, 11. Pia and arachnoid 12. Bones of skull |
| Embryologic derivative of Melanocytes? | Neural crest |
| What GI plexuses are of Neural crest origin? | Myenteric (Auerbach) plexuses |
| Auerbach plexus is an embryologic derivative of _______________. | Neural crest |
| Which skin related cells are a neural crest derivative? | Melanocytes |
| Odontoblasts and Melanocytes are derivatives of: | Neural crest |
| What is the embryological tissue of Endocardial cushions? | Neural crest |
| Cardiac structures of Neural crest origin: | 1. Endocardial cushions 2. Aorticopulmonary septum |
| Which organ's cartilage is of Neural crest origin? | Laryngeal cartilage |
| Which thyroid cells are derivatives of Neural crest? | Parafollicular (C) cells |
| The PNS is made from ____________ ___________. | Neural crest |
| What is conveyed in the PNS that has Neural crest origin? | Dorsal root ganglia, Cranial nerves, and autonomic ganglia |
| What is the origin embryological tissue of the Cranial nerve? | Neural crest |
| Autonomic ganglia is a derivative of: | Neural crest |
| Schwann cells are a drevivate fo ________ ___________. | Neural crest |
| What is the embryological tissue of the bones of skull? | Neural crest |
| Pia and arachnoid are derivatives of the ______________________. | Neural crest |
| List of Mesodermal derivatives: | 1. Muscle 2. Bone 3. Connective tissue 4. Serous lining 5. Spleen 6. Cardiovascular structures 7. Lymphatics 8. Blood 9. Wall of gut tube 10. Upper vagina 11. Kidneys 12. Adrenal medulla 13. Dermis 14. Testes and Ovaries |
| What is the only postnatal derivative of the Notochord? | Nucleus pulposus |
| What are the associated defects of Mesoderm? | Vertebral defects Anal atresia Cardiac defects Tracheo-Esophageal fistula Renal defects Limb defects |
| What common atresia is due to defective Mesoderm? | Anal atresia |
| What are the serous lining made from Mesoderm? | Peritoneum, Pericardium, and pleura |
| Muscle , bone, connective tissue and spleen are of __________________ origin. | Mesoderm |
| What part of the vagina is of Mesoderm derivation/ | Upper vagina |
| Blood and lymphatics are derivatives of? | Mesoderm |
| What is the embryological origin of the kidneys, adrenal cortedx, dermis and testes/ovaries? | Mesoderm |
| Dermis is of ___________________- derivation. | Mesoderm |
| Wall of gut tube is a derivative of __________________. | Mesoderm |
| Gut tube epithelium, included anal canal above the pectinate line, is of ____________________ origin. | Endoderm |
| Most of the urethra and lower vagina are derived of ____________. | Endoderm |
| What structures are derived from Urogenital sinus? | Lower vagina and urethra |
| What are the luminal epithelial derivatives? | Lungs, liver, gallbladder, pancreas, eustachian tube, thymus, parathyroid, and thyroid follicular cells |
| Thyroid follicular cells are ___________________ derivative. | Endoderm |
| What is the embryological tissue of luminal epithelial derivatives? | Endoderm |
| Thyroid follicular cells are of __________________ origin. | Endoderm |
| What is the definition of Agenesis? | Absent organ due to absent primordial tissue. |
| Absent organs due to absent primordial tissue. | Agenesis |
| Definition of Aplasia: | Absent organ despite presence of primordial tissue |
| Which error in morphogenesis depicts no organ, despite the presence of primordial tissue? | Aplasia |
| What is hypoplasia? | Incomplete organ development with primordial tissue present |
| Is primordial tissue present in hypoplasia? | Yes |
| Secondary breakdown of previously normal tissue or structure | Disruption |
| What is an example pathology of a error in Disruption? | Amniotic band syndrome |
| When do Deformation errors occur (gestation)? | After embryonic period |
| Which error in morphogenesis occurs during the Embryonic period? | Malformation |
| Intrinsic disruption is known as ________________. | Malformation |
| Extrinsic disruption is known as _________________. | Deformation |
| What is the definition of Sequence, as an error in morphogenesis? | Abnormalities result from single primary embryologic event |
| What is a common example of an error in sequence? | Oligohydramnios causing to Potter sequence |
| When are teratogens most dangerous to fetal development? | 3rd-8th weeks of pregnancy |
| Teratogenic susceptibility before week 3 produce --> | "all-or-none" effects |
| Teratogen affection to fetus after week 8 causes? | Growth and function deficits |
| Teratogenic effect of ACE inhibitors | Renal damage |
| Which type of medications can cause renal damage as a teratogenic effect? | ACE inhibitors |
| Teratogenic effect of alkylating agents? | 1. Absence of digits, 2. Multiple anomalies |
| The absence of digits as a teratogenic effect is due to: | Alkylating agents |
| Teratogen - Aminoglycosides cause: | Ototoxicity |
| Which type of antibiotics are associated with Ototoxicity caused by a teratogen? | Aminoglycosides |
| What are some important teratogenic defects caused by Antiepileptic drugs? | 1. NT defects 2. Cardiac defects 3. Cleft palate 4. Skeletal abnormalities (phalanx/nail hypoplasia, facial dysmorphism) |
| What are associated skeletal abnormalities due to teratogenic effects of antiepileptic drugs? | Phalanx/nail hypoplasia and Facial dysmorphism |
| List of most common teratogenic antiepileptics: | Valproate, carbamazepine, phenytoin, and phenobarbital |
| What is recommended as prevention of teratogenic effects due to antiepileptics? | High-dose folate supplementation |
| Teratogenic effects: Vaginal clear cell adenocarcinoma, and Congenital Mullerian anomalies. Associated medication? | Diethylstilbestrol |
| What are the associated teratogenic effects of Diethylstilbestrol? | 1. Vaginal clear cell adenocarcinoma 2. Congenital Mullerian anomalies |
| What are some common Folate antagonists? | Trimethoprim (TMP), Methotrexate (MTX), and anti-epileptic drugs |
| Main teratogenic effect of folate antagonist? | Neural tube defects |
| Teratogen - Isotretinoin causes? | Multiple severe birth defects |
| Ebstein anomaly is due to a which teratogen? | Lithium |
| What is Ebstein anomaly? | Apical displacement of tricuspid valve |
| Lithium intake during pregnancy is associated with development of: | Ebstein anomaly |
| Teratogen - Methimazole. | Aplasia cutis congenita |
| Aplasia cutis congenita is due to which teratogen? | Methimazole |
| What are the adverse teratogenic effects to Tetracyclines? | 1. Discolored teeth 2. Inhibited bone growth |
| Discolored teeth on baby may be due to: | Tetracycline use during pregnancy |
| What are the teratogenic effects produced by Thalidomide? | Limb defects (phocomelia, micromelia- "flipper" limbs |
| Which teratogen is associated with limb defects such as "flipper" limbs? | Thalidomide |
| Chronic anticoagulant considered a teratogen? | Warfarin |
| What are the teratogenic defects produced by Warfarin? | Bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities |
| Which anticoagulant should be used on pregnant woman? | Heparin |
| Which are the most common substance abused that cause teratogenic effects? | Alcohol, Cocaine, and Smoking (nicotine, CO) |
| What are the teratogenic abnormalities or defects seen with Alcohol abuse? | 1. Birth defects and intellectual disability 2. Fetal alcohol syndrome |
| What vessel action is produced by consumption of cocaine? | Vasoconstriction |
| Presentation of teratogenic effects of Cocaine abuse? | Low birth weight, preterm birth, IUGR, and placenta abruption |
| What type of substance abuse is suspected by a preterm birth and placenta abruption? | Cocaine and Smoking |
| What is IUGR? | Intrauterine Growth Restriction; A condition in which a baby doesn't grow to normal weight during pregnancy. |
| IUGR is associated with ________________ abuse. | Cocaine |
| Teratogenic substance known to cause Vasoconstriction | Cocaine and Nicotine |
| What is possible reason to which Smoking and cocaine abuse share some teratogenic effects? | Both cause vasoconstriction |
| Associated teratogenic effects of smoking | 1. Low birth weight 2. Preterm labor 3. Placental problems 4. IUGR, SIDS, and ADHD |
| CO due to smoking causes? | Impaired O2 delivery --> teratogenic defects |
| Excess iodine during pregnancy is associated with: | Congenital goiter or hypothyroidism (cretinism) |
| Which maternal condition is associated with Caudal Regression syndrome? | Maternal diabetes |
| What is Caudal Regression syndrome? | Anal atresia to sirenomelia |
| Which congenital heart defects are associated with Maternal diabetes? | VSD, transposition of the Great vessels |
| List of teratogenic defects associated with Maternal diabetes: | 1. Caudal Regression syndrome 2. Congenital heart defects (VSD, TOGV) 3. NT defects 4. MacrosomÃa 5. Neonatal hypoglycemia 6. Polycythemia |
| Associated teratogen defect of Methylmercury | Neurotoxicity |
| Which are the highest/largest sources of methylmercury? | Swordfish, shark, tilefish, and king mackerel |
| What are the teratogen defects produced by Vitamin A excess? | 1. Extremely high risk for Spontaneous abortions and birth defects (cleft palate, cardiac). |
| What are the possible teratogenic abnormalities produced by X-rays? | Microcephaly and Intellectual disability |
| What is a common measure to reduce teratogenicity of X-ray exposure? | Lead shielding |
| What is the leading cause of intellectual disability in the U.S.? | Fetal alcohol syndrome |
| Associated abnormalities of Fetal alcohol syndrome | - Pre- and postnatal developmental retardation, microcephaly, facial abnormalities, limb dislocation, and heart defects |
| What are the facial abnormalities produced by Fetal alcohol syndrome? | Smooth philtrum, thin vermillion border (upper lip), small palpebral fissures |
| Most severe form of heart defects in Fetal alcohol syndrome | Heart-lung fistulas |
| What are the most severe complications of Fetal-alcohol syndrome? | Heart-lung fistulas and Holoprosencephaly |
| What mechanism is failed in Fetal alcohol syndrome? | Cell migration |
| What is Neonatal abstinence syndrome? | Complex disorder involving CNS, ANS, and GI systems; secondary to maternal opiate use/abuse |
| What kind of substance is abused in order to develop Neonatal Abstinence syndrome? | Opiate |
| Secondary to maternal opiate abuse/use. Dx? | Neonatal abstinence syndrome |
| What is the common clinical presentation of newborn with Neonatal abstinence syndrome? | - Uncoordinated sucking reflexes - Irritability - High-pitched crying - Tremors, tachypnea, sneezing, diarrhea, and, - Seizures |
| What is another term to refer to Dizygotic twins? | Fraternal |
| Dizygotic twins arise form? | 2 eggs that are separately fertilized by 2 different sperm. |
| What is the number of amniotic sacs and placenta(s) in dizygotic twins? | 2 separate amniotic sacs 2 separate placentas |
| What is the medical term for placenta? | Chorion |
| Another way to refer to monozygotic twins? | Identical twins |
| Monozygotic twins arise from? | 1 fertilized egg (1 egg + 1 sperm) that splits early in pregnancy |
| In monozygotic twins what determines the chorionicity and amnionicity? | The timing of cleavage |
| Twining; Cleavage 0-4 days --> | Separate chorion and amnion (2 & 2) |
| A shared chorion in twins is due to cleavage time? | Cleavage 4-8 days |
| Cleaved of monozygotic twins in Days 4-8 lead to: | Shared chorion |
| Shared amnion is seen if the cleavage is at__________________ days. | 8-12 |
| Twin cleavage 8-12 days lead to: | Shared amnion |
| What is the result of twin cleavage 13+ days? | Shared Body (conjoined) |
| When is cleavage of conjoined twins? | 13+ days |
| 2 eggs + 2 sperm = | Dizygotic twins |
| 1 egg + 1 sperm + early split in pregnancy = | Monozygotic twins |
| Twins that look just the same are | Monozygotic twins |
| Twin siblings that do not look exactly the same are known as: | Dizygotic twins |
| Chorion = | Placenta |
| What is chorionicity? | Number of placentas |
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