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106 Cards in this Set
- Front
- Back
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WHAT IS CHORIONIC VILLUS SAMPLING? |
US directed biopsy of placenta or chorionic villi (chorion frondosum) |
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WHY IS IT THAT CHROMOSOMAL ABNORMALITIES ALONG W/ METABOLIC DISORDER MAY BE DETECTED WHEN CELLS FROM VILLI ARE GROWN AND ANALYZED? |
Because chorionic villi is fetal in origin |
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WHAT IS THE CHORION FRONDOSUM? |
trophoblastictissue that becomes the placenta |
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WHAT ARE TWO OTHER DISORDERS ID'd BY CVS? |
1.Thalasamia 2.Sicklecell anemia |
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WHAT ARE ADVANTAGES OF CVS? |
Performedearly in pregnancy (10 to 14 weeks) Resultsavailable within 1 week Earlierresults allow more options for parents |
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WHAT ARE DISADVANTAGES OF CVS? |
fetal loss 0.05-1.0% Limbreduction defect if performed before week 8 RhoGAMshould be administrated to Rh- mother |
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CAN CVS BE DONE TV AND TA? |
Yes |
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WHAT SHOULD SONOGRAPHER DO B4 CVS? |
1.Determinethe relationship between uterus lie, cervix and the catheter passageway 2.Assessfetusnormal morphology, and age 3.identifying presence of uterine masses that may interfere with catheterpassageway |
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WHAT POSITION IS TV CVS PERFORMED IN |
Dorsolithotomy position aka gynecologic position |
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THE SONOGRAPHER SHOULD MONITOR FHR AND WHAT ELSE? AND WHY? |
Procedural bleeding FHR might go up an down plus |
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Transcervicalchorionic villus sampling at 10 weeks of gestation demonstrating the placementof the sampling catheter (arrowheads) withinan anterior placenta (P) orchorion frondosum.a, Amnioticcavity. |
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Transcervicalchorionic villus sampling at 11 weeks of gestation showing the placement of thesampling catheter (arrowheads) withina posterior placenta (P). Note the fetal abdomen (f)withintheamniotic cavity (a). |
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WHEN IS AMNIOCENTESIS OFFERED TO PTs? |
When they are atrisk for chromosomal abnormality or biochemical disorder that may be prenatallydetectable |
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WHEN ARE AMNIOCENTESIS RESULTS AVAIL? |
1 to 3 weeks |
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IF RAPID RESULT OF AMNIOCENTESIS TESTING IS DESIRED? |
fluorescencein situ hybridization (FISH) provides limited analysis within 24 hours |
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FISH MOST COMMONLY EVALUATES FOR NUMERIC ABNORMALITIES OF CHROMOSOMES SUCH AS: |
21, 13, 18, X, Y |
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WHAT ARE INDICATIONS FOR AMNIOCENTESIS? |
•Advancedmaternal •Previouschild with chromosomal abnormality•unexplainedabnormal AFP level or abnormal triple screen •Fetuswith congenital anomaly |
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WHAT IS THE GREATEST RISK FOR CHROMOSOMAL ANOMALIES? |
Maternal age
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WHEN IS AMNIOCENTESIS FOR GENETIC REASONS IDEALLY PERFORMED? |
15 and 20 wks |
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AMNIOCENTESIS MAY BE DONE AS EARLY AS 12 WKS BUT WHAT MAY THIS LEAD TO? |
Development of fetal scoliosis or clubfoot secondary to reduced amount of AMF |
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WHERE MAY YOU GET OPTIMAL COLLECTION FOR AF? |
Away from fetus Away from central portion ofplacenta Away from umbilical cord Near maternal midline to avoidmaternal uterine vessels |
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FIGURE 53-6 Ifthe needle is inserted parallel to the transducer, only the tip will berepresented. If the needle is inserted at an angle with the transducer, thebeam will intersect the needle, but it will not demonstrate its tip, whichcould be in a harmful position. Notice that in both cases the image on thescreen is the same. Angling the needle is a dangerous procedure that should beavoided |
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A,Genetic amniocentesis at 15.6 weeks of gestation using direct visualizationmethod. The needle tip (t) is identified within the amnioticcavity. F, Fetus |
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Genetic amniocentesis at 16 weeksof gestation in a twin pregnancy. The needle tip (t) isidentified within the sac above the amniotic membrane (arrows). F,Fetus; P, placenta. 1,Umbilical cord insertion into placenta |
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WHAT SHOULD YOU DO W/ MG B4 AMNIOCENTESIS? |
measure head to toe ID placenta IDmembrane Determine if monozygote or dizygote |
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HOW DOES DOCTOR DIFFERENTIATE THE TWINS? |
Inject one sac w/ color dye blue indo |
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IF DOCTOR PUNCTURES ONE OF THE PLACENTAS, WHAT SHOULD BE ADMINSTERED? |
RhoGAM to all Rh-negative PTs w/in 72 hrs of procedure |
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WHAT IS LESS COMMON AND DANGEROUS SAMPLING TEST? |
Cordocentesis of the umbilical cord |
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WHEN IS RESULTS OF CORDOCENTESIS AVAIL? |
W/in 2 to 3 days |
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WHEN IS CORDOCENTESIS MORE COMMONLY USED? |
For guidance for blood transfusion to treat fetal isoimmunization or hydrops |
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WHAT IS AFP? |
Major protein in fetal serum |
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WHAT IS AFP PRODUCED BY? |
YS in early gestation and later by fetal liver |
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WHERE IS AFP FOUND? |
Fetal spine GI tract Liver Kidneys |
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HOW IS AFP TRANSPORTED INTO AF? |
By fetal urination and reaches maternal circulation or blood thru fetal membranes |
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AFPmay be measured in maternal serum (MSAFP) or from amniotic fluid (AFAFP) |
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WHAT ARE THE COMMON CAUSES OF ELEVATED AFP? |
•Wrongpregnancy date •Multiplegestation •Anencephaly •Spinabifida •Encephalocele = protruding pouch in the brain •Omphalocele •Duodenalatresia •Ectopia cordis •Amnioticband syndrome •Livertumors |
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IS AFP A SCREEN TEST OR DIAGNOSTIC TEST? |
Screen test |
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WHEN DOES MSAFP LEVEL INCREASE? |
W/ advancing GA Peaks from 15 to 18 wks of gestation |
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AFAFP DECREASES WITH WHAT? |
Fetal age |
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IN MG W/ DEATH OF CO-TWIN (FETUS PAPYRACEOUS) OR ONE ACARDIAC TWIN, AFP LEVEL MAY BE WHAT? |
Higher than normal |
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WHAT ARE COMMON CAUSES OF DECREASE AFP? |
•Wrongpregnancy date •Downsyndrome •Trisomy18 |
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ABNORMAL GENETICS CAN BE...? |
1. Aneuploidy 2. Dominant disorder(autosomaldominant) 3. Recessive disorder (autosomalrecessive) 4. X-linked disorders 5. Multifactorial condition 6. Mosaicism |
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TRISOMY 21 IS AKA? |
Down syndrome |
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IN TRISOMY 21, SCREENING TEST WILL REVEAL WHAT? |
High HCG level Low AFP Low estriol |
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PHYSICAL FEATURES OF TRISOMY 21 ARE? |
•Epicanthal fold •Flattenednasal bridge •Round,small ears •Protrudingtongue •LowIQ |
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WHAT ARE SONOGRAPHIC FINDINGS OF TRISOMY 21? |
•Nuchalthickness •Hygroma •Heartdefects •Duodenalatresia •Shortenedfemurs •Mildpyelectasis •Mildventriculomegaly •Echogenicbowel *EIF* •clinodactyly |
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PYELECASIS IS? |
Dilated renal pelvis |
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TRISOMY 21 VSD,Ventricular septaldefect. Short axis of fetus Left atrium is top right chamber bc next to spine |
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TRISOMY 21 omphalocele |
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TRISOMY 21 absent fifth middle phalanx in a fetus w/ trisomy 21 |
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TRISOMY 21 Other anomalies were an AV canal defect and thickened nuchal fold. |
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NUCHAL FOLD SHOULD BE MEASURED WHERE? |
between the skin and the bone |
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TRISOMY 18 IS AKA ...? |
Edwards syndrome |
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SECOND MOST COMMON CHROMOSOMAL TRISOMY IS? |
Trisomy 18 |
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TRISOMY 18 IS ASSOCIATED WITH AN ABNORMAL WHAT? |
Quadruple screen test |
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TRISOMY 18 IS LETHAL WITH WHAT YEAR OF LIFE? |
1st year |
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FETUSES ARE PRESENTED W/ SEVERE RETARDATION AND MAY SPONTANEOUSLY WHAT? |
Abort |
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WHAT ARE SONOGRAPHIC FINDINGS OF TRISOMY 18? |
•Heartdefects •Choroidplexus cysts that persist after 13 wk GA •Clenchedhands •Micrognathia •Talipes•Renalanomalies •Cleftlip and palate •Omphalocele •Cerebellarhypoplasia |
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WHAT IS CYSTIC HYGROMA? |
anechoic mass located on the posterior aspect of the fetal neck caused by lymphatic duct obstruction |
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TRISOMY 21 Thickened nuchal skin fold |
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TRISOMY 21 Double bubble sign. Duodenal atresia |
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TRISOMY 21 Heart defects |
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Echogenic bowel |
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TRISOMY 21 Ventriculomegaly Ventricles pf brain are slightly bigger |
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TRISOMY 18 Bilateralchoroid plexus cysts in pregnancy referred for triple screen suggestive oftrisomy 18. Amniocentesis confirmed Edwards’syndrome. |
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TRISOMY 18 Cleftlip and palate associated with aneuploidy. Median and bilateral clefts carrygreater risk than unilateral clefts. |
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Thisfetus with trisomy 18 presented with persistently clenched hands. |
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TRISOMY 18 Cordinsertion into the abdominal wall defect is consistent with omphalocele. |
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TRISOMY 18 Cordinsertion into the abdominal wall defect is consistent with omphalocele. |
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TRISOMY 18 Hydronephrosis |
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Congenital diaphragmatic hernia |
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TRISOMY 13 IS AKA ...? |
Patau's syndrome |
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TRISOMY 13 OCCURS IN 1 IN 5,000 - WHAT BIRTHS? |
Occurs in 1 in 5,000-20,000 births |
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IN TRISOMY 13, EXTREMELY SEVERE ANOMALY CONSISTS OF MULTIPLE ANOMALIES; MANY INVOLVE WHAT? |
The brain |
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WHY IS IT THAT 80% OF INFANTS W/ TRISOMY 13 DIE WITHIN FIRST MONTH? |
Prognosis for trisomy 13 is poor |
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TRISOMY 13 IS CONSIDERED _____________ ANOMALY. |
Lethal |
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T or F: SURVIVORS OF TRISOMY 13 ARE MILDLY RETARDED, WITH LITTLE DEFICITS AND PROBLEMS. |
False Survivors are profoundly retarded w/ multiple deficits and problems |
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TRISOMY 13 RESULTS IN...? |
•Holoprosencephaly = no brain •Heartdefects •Cleftlip and palate •Omphalocele •Polydactyly = more than usual count of fingers •Talipes = clubfoot •Echogenicchordae tendineae •Renalanomalies •Meningomyelocele •Micrognathia |
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Multipleanomalies were identified in this pregnancy consistent with alobar holoprosencephaly.Amniocentesisconfirmed trisomy 13. Sonographic findingsincluded a single ventricle characteristic of holoprosencephy andsplaying of the cerebellar hemispheres consistent with a Dandy- Walkermalformation was also noted. |
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TRISOMY 13 Polydactyly |
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Omphacele |
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Trisomy 13 Cyclopia and absent nose |
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Trisomy 13 Hydronephrosis |
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Dnady-Walker malformation |
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Limbanomalies with aneuploidy include talipes. |
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WHAT IS TRIPLOIDY A RESULT OF? |
Complete extra set of chromosomes |
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TRIPLOIDY OFTEN OCCURS AS A RESULT OF OVA BEING FERTILIZED BY WHAT? |
Two sperms |
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TRIPOLOIDY IS ESTIMATED TO OCCUR IN APPROX WHAT PERCENTAGE OF CONCEPTION? |
1% |
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T or F: MOST FETUSES WILL SPONTANEOUSLY ABORT IN FIRST TRIMESTER |
True |
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IN TRIPLOIDY, ONLY WHAT AMOUNT OF BABIES WILL CONTINUE TO 16 TO 20 WKS? |
1 in 5000 |
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IS TRIPOLOIDY CONSIDERED A LETHAL CONDITION? |
Yes |
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WHAT HAPPENS TO THOSE WHO SURVIVE GESTATIONAL PERIOD W/ TRIPLOIDY? |
They die shortly after birth |
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WHAT WILL FETUSES W/ TRIPLOIDY PRESENT WITH? |
•Hydatidiformplacental degeneration •Heartdefects •Renalanomalies •Omphalocele •Cranialdefects •Facialdefects |
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WHAT IS TURNER'S SYNDROME (45 X)? |
Genetic abnormality marked by absence of X or Y chromosome |
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IS TURNER'S SYNDROME ASSOCIATED W/ AMA? |
No |
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TURNER'S SYNDROME OCCURS IN 1 OF EVERY HOW MANY LIVE BIRTHS? |
1 of every 2500 live births |
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T or F: MOST FETUSES W/ TURNER'S SYNDROME WILL NOT SPONTANEOUSLY ABORT. |
False |
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PROGNOSIS OF TURNER'S SYNDROME IS ESPECIALLY GRAVE WHEN WHAT? |
Fetus presents w/ large cystc hygroma and edema or hydrops |
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WHAT WILL FETUS W/ TURNER'S SYNDROME PRESENT WITH? |
•Cystichygroma(path gnomonic finding) •Heartdefect •Hydrops/lymphedema •Renalanomalies |
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IN TURNER'S SYNDROME, IF A HYGROMA IS ISOLATED WHAT WILL IT DO? |
May regress in utero |
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FEMALE SURVIVORS OF TURNER'S SYNDROME WILL HAVE WHAT? |
immaturesexual development amenorrhea short stature webbed neck cubitusvalgus (abnormal elbow angle) shield chest with widely spaced nipples may have poor hearing |
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WHAT IS NECESSARY FOR SEXUAL DEVELOPMENT OF TURNER SYNDROME FEMALES? |
Hormone replacement therapy |
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WHAT MIGHT YOU THINK FEMALES W/ TURNER SYNDROME HAVE? |
Retardation but they have normal intelligence |
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WHAT IS THE MOST PATHOGNOMIC FINDINGS FOR THIS? |
Turner's Syndrome: cystic hygroma |
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Aseptatedcystic hygroma isnoted in the nuchal region in a 12-week fetus |
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Significantedema was also evident around the fetal abdomen. This fetus died shortlythereafter. |
