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42 Cards in this Set
- Front
- Back
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teratogens
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anything that can interfere w/ the stage post zygote
-substances causing abnormal structures in an embryo |
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karyotype
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complete set of chromosomes in a cell.
-picture taken |
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euploid, haploid, aneuploidy
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euploid-normal balenced set of chromosomes
haploid-one set=23 chromosomes aneuploid-unbalenced set of chromosomes(too many or too few) |
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trisomoy, phenotype, genotype
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trisomy-presence of an extra chromosome(47)
-phenotype-observable expression of a gene -genotype-genetic composition of a person |
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what are the causes of genetic diseases?
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-abnormal strucutre of chromosomes
-abnormal number of chromosomes - |
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explain the diff btw autosomal dominent and recessive?
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-Dominant-one parent is effected, and probability of transmitting trait to child=50%
-recessive-both parents are carriers; effects children 25% of the time |
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fetal syndroms
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-a set of anomolies that occur together
- |
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explain the key findings of aperts syndome? what are some other findings?
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-rare
-coronal craniosynostosis-sutures fuse inutero -syndactyl -mitten hands or toes OTHER FINDINGS: -AD -acrocephaly(cone head) -beakednose -hypertelorism -hydrocephalus |
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explain beckwith wiedemeann's syndome?
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-gigantism
-characterized by neonatal hypoglycemia and dysmophic features -prone to wilm's tumors and hepatblastomas(both cancerous) |
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what are the features of beckwith weidmann?
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think large and microcephaly!!
-macroglossia -viscseromegaly -omphalocele -distinctiveear anomolies -lg adrenal glands -also, microcephaly |
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what does visceromegaly include?
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-liver
-kidneys -spleen -adrenals |
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trisomy 21
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inheritance of an extra chromosome
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what percent of down's fetus's hve a cardiac defects?
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50%
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what are some soft findings of downs?
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-brachycephaly
-mild ventriculomegaly -falttening of face -nuchal edema(>10mm) -cardiac defects -duodenal atresia -echogenic bowel -hydronephoris(>4mm) -short limbs -snadal gap -clinodactyl -short pinky -absent nasal bone(11-14 wks) (need 2 or 3 soft findings to lean towards downs) |
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what is the second most common trisomy after downs?
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trisomy 18(edwards syndrome)
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what are the key sonographic findings of edwards syndome? what are some other findings?
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key findings:ACC MNO FRS
-ACC -Cardiac defects -CDH -Micrognathia -nuchal edema -overlapping fingers -facial cleft -rocker bottom -strawberry head Other: -CP cysts -dandy-walker -radial aplasia -esophageal atresia -ompalocele -renal defects -myelomeningocele -IUGR -short limbs -talipes |
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what is strawberrry shaped head due to ?
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craniosynostosis on cranial sutures
-occurs in edwards, but never in downs |
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explain trisomoy 13?
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-patau syndrome
-characterized by midline dysmorphic features and organ malformations -multiple anomoles similar to downs and trisomy 18 -up to 90% have clefts |
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meckel-gruber syndrome
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-rare and lethal
-AR disorder -occipital encephalocele(80%) -cystic dysplastic kidneys(reason it's lethal) -polydactyl(75%) -cardiac anomoly |
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what are the major defects of pentalogy of cantrell
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You See:
-ectopic cordis -abdominal wall defects other: -distal sternum -ant. diaphragm -diaphragmatic pericardium(all sternal or diaphragmatic defects) |
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explain potters syndrome and the sonographic features
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-lethal
-renal ageneiss(reason for lehtality) -lying down adrenals -oligo -flattened face -low set ears -small chin -joint contractures -pulmonary hypoplaisa |
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LBWC
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most severe form of amniotic band
-herniated viscera within a complex membrane involed mass, severe scoliosis, and cranial and spinal defects |
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amniotic band syndrome
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-congential malformations from constriction of bands
-disruption of amnion allowing fetus to enter choriic cavity -fetal parts become entraped by chorionic space -bands may or may not be seen -etiology unknown -occurs7.7/10,000 live births -severe forms are lethal |
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what is another name for jeune's syndrome?
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asphixiating thoracic dysplasia
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what is another name for eagle barrett syndrome? explain it?
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prune belly syndrome:
-absence of abdominal muscles -ureters dialated -hydronephrosis -large kidneys -undescended testes |
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TAR
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thrombocytopenia absent radius syndeome:
-absent radius/limb reduction -normal thumbs -usually absent ulna -cardiac anomolies(1/3) -confirm that it's not cordocenteiss |
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what is the prognosis of TAR?
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-depends on severity of thrombocytopenia
-40% die in infancy |
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what are the sonographic appearances of TORCH infections?
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-Microcephaly
-ventriculomegaly -hepatosplenomegaly(because baby is producing white cells -diffuse or focal pattern of calcification |
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name and explain the types of turner's syndrome?
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Lethal and non-lethal:
Lethal(X egg fertilized by an empty sperm) = -large nuchal cystic hygroma -generalized edema -mild pleural effusions -ascites -cardiac anomolies nonlethal=not identified sonographicaly(X egg fertilized by an X sperm where the X of the sperm is underdeveloped) |
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what is the physical appearance of turners syndrome?
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-female
-short(approx. 4'8'') -underdevloped ovaries -lymphedema -never able to get pregnant |
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what is the most common syndrome that occurs w/ cystic hygroma?
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turner's syndrome
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noonan syndrome
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-male phenotype of turner's
-normal life expectancy for those w/out major cardiac defects |
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what are the features of noonan sydrome?
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-short stature
-nuchal cystic hygroma and hydrops -learning -dysmorphic appearance -cardiac defects(pulmonary stenosis) -normal life expectancy for those without major cardiac defects |
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what amount of alcohol causes fetal effects? why is it so bad for the baby?
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>7drinks a week; 3 drinks @ a time
->2.2 glasses ofwine per day or equivalent -mom can detoxify liver, but baby's liver accumulates alcohol -causes growth and metal retardation, physical anomolies, and immune dysfunction -most common form of mental retartdation in the U.S |
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what are the findings of FAS?
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-microcephaly
-micronathia -cleft palate -micropthalmia -malformed ears -ASD and VSD-often close in the 1st year -growth restriction(IUGR) |
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what does VSD most commonly occur in association w/?
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downs
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what is the SOGC risk guidlines for chromosomal anomoles?
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-maternal age used when a chromosomal anomoly is considered
-screening tests MSS should be used to modify a woman's age related risks -amnio offered to women >35 >15 wks -CVS offereed as an alternateive to amnio(>10wks) |
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what are the screening tests and diagnostic tests for chromosomal anomolies?
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screening:
-maternal age -maternal serum screening -u/s Diagnosic: -CVS -amnio -choriocentesis |
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look in peter callen
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alphabetical list of features
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who is at the greatest risk for downs in alberta?(age)
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>45=1/30 chance for downs
>45=1/21 chance of other chromosomal anomoles |
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explain how T-21, T-18, T-13 react to the triple and quad screen? what are theY?
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triple screen=AFP, UE3, hCG
Quad=adds inhibin A T-21-hCG and inhibin A are elevated T-18=all are decreased T-13=same as T-18 |
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what causes an echogenic focus in the heart?
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-calcification on the pap muscle or valve
-occur more in the asian population |
