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34 Cards in this Set
- Front
- Back
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malformation |
intrinsically abnormal developmental process causing a morphologic defect |
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disruption |
morphological defect caused by extrinsic interference with an originally normal developmental process |
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deformation |
abnormal form, shape or position of body part that happened because of mechanical forces |
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Syndrome |
group of anomalies occurring together that have a specific common cause |
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Association |
nonrandom appearance of multiple anomalies that occur together more frequently than by chance (cause not yet determined) VACTERL |
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VACTERL association |
vertebral anal cardiac tracheoesophageal renal limb |
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teratogen |
any agent that can produce congenital anomaly or increase the incidence of one -susceptibility/manifestations depend on dose, duration, developmental stage |
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thalidomide |
-meromelia (absence of part of upper/lower limbs) -amelia (absence of limbs) -micromelia (abnormally small/short limbs) -other defects too -period: 24-36 days after fertilization -theories of action: antiangiogenic, ROS formation |
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Category X drug |
absolutely contraindicated in women of childbearing age e.g. thalidomide, isotretinoin (accutane) |
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Retinoic Acid (vit a) |
isotretinoin (13-cis-retinoic acid, accutane) -prescribed for severe cystic acne -ligand for retinoic acid receptors -Hox and Pax (among other regulatory genes) have retinoic acid response elements -period: 3-5 weeks after fertilization - craniofacial dysmorphism, cleft palate, cardiovascular anomalies, neural tube defects, neuropsychological impairment |
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Fetal Alcohol Spectrum Disorder |
-continuum of birth defects related to alcohol consumption -Fetal alcohol syndrome: severe end -abnormal facial features -growth deficits -CNS abnormalities (microcephaly) -intellectual disability (most common cause) -results from excessive cell death of neural crest cell-derived structures |
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Cigarette smoking during pregnancy |
-intrauterine growth restriction -premature delivery -low birth weight -nicotine constricts uterine blood vessels--> chronic fetal hypoxia |
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TORCH infections |
Toxoplasmosis Other (syphilis, HIV, varicella zoster, others) Rubella CMV Herpes simplex |
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Rubella Virus infection in neonates |
-blueberry muffin lesions -sensoineural hearing loss -eye deficits |
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CMV infection in neonates |
-most common viral infection of fetus -10% symptomatic at birth: low birth weight, hepatosplenomegaly (jaundice), petechial rash, microcephaly, etc. -80% late complications |
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toxoplasmosis |
-protozoan -raw meat or cats -classic triad: chorioetinitis, hydrocephalus, intracranial calcifications - most infected infants asymptomatic, can have late complications |
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folic acid (B9) deficiency |
neural tube defects spina bifida encephalocele anencephaly |
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radiation exposure to fetus |
-ionizing radiation kills rapidly proliferating cells -can produce any kind of birth defect X-rays: cleft palate, limb defects, anomalies in CNS and eyes |
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week 1 |
-fertilization in ampulla -morula -blastula--> blasocyst |
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week 2 |
-trophoblast--> cytotrophoblast and syncytiotrophoblast -implantation -bilaminar embryonic disc forms |
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week 3 |
-primitive streak -gastrulation and differentiation -neurulation, notochord -heart and embryonic BVs begin |
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week 4 |
-neural tube formation -cranial and caudal neuropores close -folding of embryo and forebrain -pharangeal arches -rudimentary organ systems -ventral prominence, beat, pump -limb buds (upper first) -octic pits -lens placodes |
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week 5 |
-minor body form changes -growth of head exceeds other regions -mesonephric ridges |
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week 6 |
-upper limbs: elbows, hand plates, digital rays -lower limbs lag 4-5 days behind -spontaneous twitches -umbilical herniation |
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week 7 |
-notches in digital rays in hand plates -ossification centers arise in upper limb bones -omphaloenteric duct (yolk stalk) |
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week 8 |
-digits of hands, feet separate -purposeful limb mbmt -sexual differences begin, not distinct enough to see -head almost half of embryo |
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Fetal period |
week 9 - birth |
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month 3 (wk 9-12) |
9: head 1/2 CHL 11: intestines returned to abdomen 12: CRL doubled, erythropoiesis in spleen (prev. liver), kidneys make urine, sex ID, ossification |
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month 4 (wk 13-16) |
-bones visible on US -ossification active -fetal ovaries with primordial ovarian follicles and oogonia -eyes shift anteriorly -ears close to where they end up |
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month 5 (17-20) |
-CRL increases by 50mm -quickening felt by mother -vernix caseosa -lanugo -uterus and vagina -eyebrows, head hair -20 wk: testes begin to descend but still on posterior abdomen |
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month 6 (21-25) |
-weight gain -type II pneumocytes in interalveolar walls make surfactant (24) -22 wk old MAY survive with intensive care, but resp system immature |
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month 7 (26-29) |
-often survive with intensive care -low birth weight (<2500g) highest mortality -lungs and pulmonary vasculature -CNS can direct breathing and temp -bone marrow is site of erythropoiesis |
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month 8 (30-34) |
-skin pink and smooth -chubby limbs -over 32wk usually survive |
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Month 9 |
-finishing period -bone growth slows -nervous system has integrative function -CRL= 360mm, 3400g -14g fat added per day -testes usually in scrotum ----> pre me may have cryptorchidism |
