Term
| structural or functional deficit present at birth |
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Definition
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| study of etiology or pathogenesis of birth defects |
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| any agent that increases rate of defects or caused a new one |
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| structural abnormality in less than 4% of population |
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Term
| anatomic defect resulting from INTRINSIC process (genetic) |
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Definition
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| anatomic defect resulting from EXTRINSIC process (environmental) |
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Term
| forms correctly, later deformed; usually due to mechanical forces |
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| group of *unrelated defects that occur together from a single etiology |
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| group of *related defects with one initial defect resulting in additional defects |
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Term
| recognized *patten of defects that occur together, but without a known single etiology, and without anatomic relationships |
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| underlying cause of 50-60% of spontaneous abortions |
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Definition
| chromosomal abnormalities |
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Term
| any change from diploid chromosome number |
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Definition
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Term
| example of monosomy of sex chromosomes; results in a female phenotype, webbed neck, short stature, and lack of sexual maturation |
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Definition
| Turners Syndrome (45, X OR 45, X0) |
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Term
| example of autosomal trisomy as a result of non-disjunction during formation of 1st polar body (which occurs at ovulation); results in hypotonia, *atrial septal defect, *palmer crease, *epicanthic folds over the eyes, duodenal atresia, and variable mental deficiency |
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Definition
| Down Syndrome (usually, 47, XY OR XX, 21+; but can be due to translocation of 21 onto 14) |
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| example of trisomy of sex chromosomes; results in tall, disproportionate legs-to-trunk ratio, and lack sexual maturity |
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Definition
| Klinefelter's Syndrome (usually, 47, XXY) |
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Term
| transfer of part of one chromosome to a different chromosome |
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Definition
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| example of a chromosomal deletion; leads to a severe mental deficiency, laryngeal malformation, and a *unique "cats-fighting" cry |
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Definition
| Cri-Du-Chat Syndrome (46, XX OR XY, 5p-) |
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Term
| example of a *paternal chromosomal microdeletion which results in a number of *bone/endocrine abnormalities: short stature, hypogonadism, obesity, and mild mental deficiency |
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Definition
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| example of a *maternal chromosomal microdeletion which results in a number of *CNS related abnormalities: SEVERE mental deficiency, microcephaly, seizures, and *ataxia (wide-based gait with staggering) |
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Definition
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Term
| genomic imprinting depends on... |
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Definition
| differential expression (what genes you get from your mom & which ones you get from your dad) |
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Term
| part of chromosome gets flipped, resulting in a nonsense mutation |
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Definition
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| most often, these types of disorders are expressed in males due to gene inactivation in females |
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| most common cause of mental deficiency via *gene mutation; q arm looks broken as a result of this mutation |
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| both parents need to be carriers in order for their offspring to express this type of gene; ex: TAR Syndrome, Congenital Adrenal Hyperplasia, Microcephaly |
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Definition
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| offspring has a 50% chance of expressing the defect; ex: polydactyly (usually extra little toe), achrondroplasia (type of dwarfism in which short limbs are especially common) |
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| most common cause of mental deficiency in *world |
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| most common cause of mental deficiency by *aneuploidy |
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| FDA "Use-In-Pregnancy" rating in which controlled studies in humans and animals show NO RISK |
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Definition
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| FDA "Use-In-Pregnancy" rating in which there is NO evidence of risk in humans, but MAY show risk in animals |
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Definition
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| FDA "Use-In-Pregnancy" rating in which risk *cannot be ruled out - not studied in humans |
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| FDA "Use-In-Pregnancy" rating in which there is a positive evidence of SOME risk |
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| FDA "Use-In-Pregnancy" rating in which use is CONTRAINDICATED during pregnancy - HIGH risk with KNOWN defects |
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| casuses *transposition of the great arteries and *hypospadias (urethra emerges mid-shaft in males); category X |
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| this medication was previously given to women who had previous miscarriages but was found to cause *vaginal adenocarcinoma in female offspring ages 16-22 |
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Definition
| Hormones: Diethylstilbestrol (DES) |
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Term
| this medication induces ovulation and causes *anencephaly (top of skull does not form) |
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| not directly teratogenic, but can cause defects when levels of this are unstable; main defect seen is *caudal regression syndrome (sacral agenesis, absence of lower limbs) |
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| causes *cleft palate in animals, but NOT in humans |
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Definition
| Hormones: Corticosteroids |
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Term
| causes *goiters and *cretinism |
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Definition
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Term
| target rapidly dividing cells and can cause *ancephaly and *skeletal defects |
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Definition
| Drugs: Antineoplastic agents (folic acid antagonists) |
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Term
| this medication is a tranquilizer/sedative and causes *amelia (complete limb absence) or *meroamelia (partial limb absence); this was pulled from the market with the help of a USD Pharm. Faculty member, but has recently been used as an immune suppressant in transplant patients and those with leprocy |
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Definition
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| causes IUGR, cleft lip/palate, and *inverted "V" shaped eyebrows |
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Definition
| Drugs: Anticonvulsants-Trimethadione |
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Term
| causes IUGR, cleft lip/palate, and *distal digital hypoplasia (fingernails don't form, 5th digit tapers to a skin point) |
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Definition
| Drugs: Anticonvulsants-Diphenylhydantoin |
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Term
| appears to have no adverse effects on developing fetus |
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Definition
| Drugs: Anticonvulsants-Phenobarbital |
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Term
| causes *brown-stained teeth; category X |
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Definition
| Antibiotics: Tetracycline |
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Term
| causes *hearing loss, especially at high doses |
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Definition
| Antibiotics: Streptomycin |
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| appears to have no adverse effects on developing fetus |
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| most common cause of NEW cases of mental retardation |
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Definition
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| indicated by the presence of ALL of the following: 1) *prenatal growth retardation & *low birth weight; 2) *reduced palpebral fissures (eyes are NOT wide, but are more rounded); 3) *maxillary hypoplasia (cheek bones are NOT prominent); 4) some expression of *mental deficiency |
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Definition
| FAS: distinguishing characteristics |
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Term
| causes *cerebral infarcts and *abruptio placenta (anchoring villi give way & placenta detaches from uterine wall) |
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Definition
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| causes IUGR, altered sleep patterns |
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| causes IUGR, intrauterine death, *impaired renal function, and *hypoplasia of calvaria |
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Definition
| anti-hypertensive agents (ACE inhibitors) |
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Term
early on (6-10 wks), this causes CNS defects, limb defects, and *nasal hypoplasia
later on (13-38 wks), this causes *optic atrophy, hydrocephaly |
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Definition
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Term
| this medication appears to be safe (because it is unable to cross the placenta) |
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Definition
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Term
| since they cross BOTH the placenta AND the fetal blood-brain barrier, *infectious agents MOST affect... |
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| causes *3 Cs deficiencies: Cataracts, Cardiac defects, and Can't hear; this was the first recognition that an environmental agent could cause defects |
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Definition
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| major cause of *microcephaly (up to 25% of cases); this is most common virus of fetus; is difficult to diagnosis because mom is often asymptomatic |
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| causes *cutaneous lesions, microcephaly, and *micropthalmia (small eyes) |
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Definition
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| causes *muscle atrophy, *skin scars, mental deficiency; there is NO proven risk of this after 20 wks--it is the early exposure that is the biggest problem |
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Definition
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| causes *hypertelorism (wide spaced eyes), microcephaly, *flared philtrum (narrow at nostrils); most often, transmitted at time of delivery |
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Definition
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| causes microcephaly, mental deficiency, hydrocephaly, and *intracranial calcifications; transmitted via *parasite in poorly cooked lamb or pork; found in *soil; can be from infected animals--such as *cats' litterbox |
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Definition
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| humans have a very LOW threshold to this, about 80% of individuals exposed; defects are increased if disease is acquired during pregnancy; miscarriage risk increased if disease is acquired before pregnancy; causes hydocephalus, skeletal defects, mental deficiency, *Hutchinson's teeth |
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Definition
| Treponema pallidum (syphilis) |
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Term
| most common cause of *decreased uterine blood flow |
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Definition
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Term
| too much of this can cause a type of *'first arch' syndrome: cleft palate, *microtia (small pinna), hearing loss; category X |
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Definition
| Vitamins: Retinoic Acid/Vit. A - *Acutane |
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Term
| linked with a reduced rate of neural tube defects, but too much of this could *mask pernicious anemia (attacks dorsal column of spinal cord, which deals with positioning and body sense) |
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Definition
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Term
| causes a disease similar to *cerebral palsy; this is found in fungicide coated seed corn |
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Definition
| Chemicals: Methyl mercury |
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| due to ingesting contaminated fish |
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Definition
| Chemicals: Minamata disease (organic mercury) |
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| usually embryolethal; associated with raised core temperature from mom spending too much time in a hot tub |
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Definition
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Term
| these form when amnion ruptures prematurely, but chorion is still intact; these are especially damaging to limbs and digits |
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Definition
| Mechanical: Amniotic bands |
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Term
| causes hip (congenital dislocation), knee (genu recurvatum), and foot (club foot) defects |
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Definition
| oligohydramnios (little/minimal amniotic fluid) |
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Term
| can cause *premature closure of ductus arterioles (fetal vessel allowing blood to bypass lungs) |
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Definition
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| NCARL: mnemonic for remembering 3% defect rate in population (so this equates to 30/1000 people); what do the letters stand for and how many of the 30 people would be affected by each type? |
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Definition
| neural (10), cardiac (8), all others (6), renal (4), limb (2) |
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