Term
| Part of genetic testing & screening programs (includging prenatal testing) |
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Definition
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Term
| Validation of dx, obtain family hx, estimate risk of recurrence, help family reach decisions, & take appropriate action, f/u |
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Definition
| Process of Genetic Counseling |
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Term
| patient not told what decisions to make-instead offered support |
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Definition
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Term
| Accurate ____ necessary for accurate prenatal testing |
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Definition
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Term
| Prenatal Diagnosis with ____________ allows for informed choices during pregnancy; usu performed early in pregnancy; provides reassurance to at risk families when results are normal; provides risk info to those who wouldn't have child w/out reassurance; prepare for birth; plan delivery & postnatal care; provide risk info for those in which termination is an option |
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Definition
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Term
| _________ Procedure discuss: Chance fetus is affected, nature & consequence of disorder, risk & limitations, waiting period for results, complications |
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Definition
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Term
| An ultrasound directed aspiration/biopsy of the placenta or chorionic villi; Used to obtain a fetal karyotype & allows for dx of genetic disorders in 1st trimester; Cells from villi are cultured & analyzed |
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Definition
| CVS (Chorionic Villi Sampling) |
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Term
| Indications:Late maternal age (>35 yrs), previous trisomic offspring, parental chromosome rearrangement, X-linked disorders, Mendelian disorders (other) |
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Definition
| CVS (Chorionic Villus Sample) |
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Term
| Advantages: Performed early in pregnancy (typically 10-13 weeks), results are usually ready in <10 days (per GeneCare), and earlier results allow more options for parents; Performed transcervically & transabdominally |
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Definition
| CVS (Chorionic Villus Sample) |
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Term
| US performed before procedures should exhibit the following: Lie of the UT & cervix & path of catheter; assess the fetus in terms of viability, normal morphology, & age; identify uterine masses or potential problems that may interfere with the catheter |
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Definition
| CVS (Chorionic Villus Sample) |
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Term
| Between 10-14 weeks; Patient in a lithotomy position; 1.catheter placed in cx and placed within the villi of frondosum, 2.suction applied/sample taken & examined, 3.document fetal cardiac activity before discharge |
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Definition
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Term
| 10 weeks to term; 18-20 gauge needle introduced through maternal abdomen and uterine wall into the chorion frondosum with ultrasound guidance, 2.Needle guided back/forth w/ suction & Sample obtained & examined, 3.Document fetal cardiac activity before discharge |
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Definition
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Term
| Possible slightly higher fetal loss rate than an amniocentesis; more spotting/bleeding with transcervical method; with multiple passes increased risk of infection; possible correlation with fetal limbreductions if performed prior to 10 weeks |
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Definition
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Term
| 99% of chromosomal abnormality detection rate (GeneCare) |
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Definition
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Term
| 1-2% of women receive an inconclusive test (GeneCare) |
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Definition
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Term
| Most common invasive technique used; Indications: AMA, Abnormal fetal karyotype, abnormal US or quad screen AND lung maturity, fetal infections, isoimmunization, therapeutic |
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Definition
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Term
| For genetic testing, perform between 15 to 20 weeks of gestation; Can be performed from 15+ weeks (15 to term); Best performed after amnion & chorion are fused (after 15 weeks); Results in approximately 10-14 days; with FISH (Fluorescence In Situ Hybridization), in 24-48 hours; 3rd trimester complications: infection, bleeding, PROM, pre-term labor |
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Definition
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Term
| Performed transabdominally; US is done 1st to determine age, viability, and location of placenta to locate fluid pocket; w/US guidance, needle (typically 22 gauge) is inserted into maternal abdomen & through uterine wall to amn. sac Appx 20-30 mm of fluid removed (for genetic). Post procedural scan performed (confirm cardiac activity & sac integrity) |
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Definition
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Term
| with multiples indigo carmine dye (blue) can be injected into the first sac; clear amniotic fluid indicates the 2nd sac has been penetrated |
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Definition
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Term
| 99.9% detection of chromosomal abnormalities (GeneCare) |
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Definition
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Term
| Allows visualization of small chromosomal region (usually too small to be seen with karyotyping); Uses DNA probes (small fragment of DNA) representing a specific chromosome or region; ID of aneuploidy involving chromosome 21, 18, 13, x, &, Y by standard cytogenic culture; Can be applied to amniotic fluid cells, CVS, or FBS after the ID of fetal anomalies by Ultrasound; Advantage-rapid prelim karyotype (24-48 hours) |
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Definition
| FISH (Fluorescence In Situ Hybridization) |
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Term
| Main use-drainage of amiotic fluid with polyhydramnios or management of TTTS (Twin-Twin Transfusion Syndrome); Complications: fetal distress, bradycardia, seperation of placenta (abruption); 20 g needle; 1-2L removed |
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Definition
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Term
| Creates an acoustic window for US in cases of sever oligohydramnios; Aseptic Technique: needle guided instillation of normal saline at body temperature into the intra-amniotic space; may determine obstructive uropathy, etc |
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Definition
| Fluid instillment into the amniotic cavity |
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Term
| Direct vascular access to fetus for diagnosis and therapeutic purposes; performed after 24 weeks in L&D OR; US guided 20-22 gauge needle inserted through maternal abdomen & uterine wall into the UV at its insertion into the placenta Blood withdrawn into heparinized syringe and analyzed immediately for presence of fetal blood cells to determine purity & origin |
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Definition
| FBS (Fetal Blood Sampling)/PUBS (Percutaneous Umbilical Blood Sampling)/Cordocentesis |
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Term
| Fetal paralysis may be considered; Alternate sites:insert of cord @ umbilicus, intrahepatic vein, free cord loop; Risks=fetal loss, infections, PTL, bleeding, bradycardia |
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Definition
| FBS (Fetal Blood Sampling)/PUBS (Percutaneous Umbilical Blood Sampling)/Cordocentesis |
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Term
| Urinary obstruction, therefore a shunt in utero done to allow free drainage of urine from the bladder into the amniotic cavity, thus relieving pressure on the urinary tract preventing oligohydramnios |
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Definition
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Term
| Continuous drainage of fluid to allow for lung development (pleural effusion/chest masses) |
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Definition
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Term
| viewing of the fetus; 1970's endoscopic method; Testing in the 2nd trimester of blood, skin, & liver for prenatal diagnosis; TV & TA (TA more popular); US guided with a needle introduced into the amniotic cavity; endoscope inserted through the needle for direct visualization of fetus & placenta |
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Definition
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Term
| Local anesthesia and maternal sedation used for discomfort; indications: skeletal disorders, syndromes where specific malformations are sought Possible future use: stem-cell intra uterine therapy |
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Definition
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Term
| Most common indication: laser ablation (seperation/detachment/removal by cutting with a laser) of communicating vessels in TTTS (Twin-Twin Transfusion Syndrome); Other indications: 1.Cord occlusion (for acardiac twins or when demise of 1 twin inevitable), 2.Cessation of |
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Definition
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Term
| Vessels crossing from 1 placental bed to the other are ablated |
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Definition
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Term
| Approximately 70% survival (80% of at least 1 fetus & 50% of both) |
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Definition
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Term
| Technique similar to dx fetoscopy; instruments are passed thru fetoscope; Maternal sedation: local or maternal sedation; Normal saline continuously infused into amn cavity for max vis during fetoscopy |
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Definition
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Term
| Maternal complications: hemorrhage, infection, PTL, electrolyte imbalance; Risk to fetus: pre-term delivery, PROM (Risks due to size of fetoscope & procedure length) |
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Definition
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