Natera Panorama Practice Exam

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• Which patient information should be collected prior to Panorama testing?
• Chorionic villus sampling uses placental tissue to obtain fetal cells for testing.
• Which of the following describes the primary data used by the counting method to determine risk in NIPT?
• If someone receives a low risk result, their adjusted risk for Trisomy 21, 18, 13, and Monosomy X is less than 1/10,000.
• Panorama will be run on a known vanished twin pregnancy.
• The majority of monozygotic twins are ___________ _____________
• What should be done after a low-risk Panorama result?
• Is fetal sex determination offered by Panorama?
• In Panorama testing, a priori risk refers to the baseline risk calculated before screening or testing.
• Amniocentesis takes cells from the ____________ in order to do diagnostic testing.
• Which statement is NOT a recommended pre-analytic step for Panorama?
• How can placental mosaicism affect Panorama results?
• What caveats apply to microdeletion reporting?
• NIPT using the counting method utilizes ____ in order to determine risk level.
• Which term describes a condition with three copies of a chromosome, such as trisomy 21?
• T/F: Panorama applies fetal fraction cut-off to each dizygotic twin
• Which statement about low-risk results is true?
• What is the reliability of Panorama in multiple gestations?
• What is the average fetal fraction?
• What impact can a vanishing twin have on NIPT results?
• Triploidy occurs in pregnancies with ____ copies of each chromosome.
• What are typical next steps after a no-call result?
• Term for disappearance of one fetus in a twin pregnancy.
• What is the role of parental genotypes in Panorama's analysis?
• A priori risk is the baseline risk used before screening or testing.
• Which term is a measurement at the back of the neck that can indicate chromosomal abnormality?
• Which of the following statements about maternal age and aneuploidy risk is true?
• What should be done if a patient presents in early first trimester with a low fetal fraction?
• Which factor can contribute to a false-positive signal in Panorama for trisomy 21?
• Which process is used when a sample has low fetal fraction or fails SNP array quality metrics?
• Which statement best describes invasive diagnostic testing during pregnancy?
• Which statement about Panorama results is true?
• Samples obtained from amniocentesis or chorionic villi sampling may be used to form a picture of the chromosomes, also known as a _______.
• Which of the following factors directly affects the detection of microdeletions in Panorama?
• In twin pregnancies, the total fetal fraction can be up to 35-40% higher than in a singleton, but the fetal fraction per individual twin is lower.
• Twins can also be _________, meaning there is one outermost membrane surrounding both twins and one placenta supporting both twins
• Atypical findings can be placental or maternal in origin.
• Under the counting method, vanishing twin can lead to which of the following outcomes?
• Results that can occur from a sample that passes quality control include which of the following?
• When interpreting Panorama results, what should clinicians consider?
• Which of the following best describes what SNPs represent in Panorama testing?
• Which approach allows detection of maternal mosaicism in cfDNA testing?
• In which clinical scenarios is Panorama particularly indicated?
• Natera Panorama offers diagnostic testing such as karyotype or microarray.
• What is the term for the fraction of DNA from the placenta found in the mother's blood?
• What is the purpose of repeat testing after a no-call?
• Diagnostic testing during pregnancy can be performed by which of the following?
• What follow-up is recommended if a high-risk result for a sex chromosome aneuploidy is reported?
• Vanishing twin detection may influence interpretation of cfDNA results in pregnancy.
• Which statement best defines triploidy?
• False positives in cfDNA testing can result from placental mosaicism.
• Panorama's core analytical approach uses which method?
• Which statement about 'no result' or 'no call' Panorama results is accurate?
• Can fetal sex be determined by maternal serum screening?
• How are fetal sex and sex chromosome abnormalities reported by Panorama?
• How does Panorama detect fetal sex and sex chromosome aneuplies?
• Which statement best describes the optional screening components offered by Panorama?
• Dizygotic twins arise from which conception scenario?
• Chromosomal microarray is diagnostic testing that identifies __________ or _________.
• Which test identifies microdeletions or microduplications?
• Molar pregnancies occur when there is no genetic material from which source?
• TTTS occurs in monochorionic twins due to unequal sharing of placental blood flow.
• Internal controls in Panorama are used to monitor which aspects of the assay run?
• How is positive predictive value defined in screening tests?
• Panorama can pick up potential vanished twin.
• A fetal fraction of 11% falls within the average range of 10-12%.
• Which configuration is typically associated with two separate placentas?
• What is cell-free DNA in pregnancy and its primary source?
• Which statement best describes the purpose of validation papers for diagnostic tests?
• Panorama screens for open neural tube defects such as spina bifida.
• What actions are recommended if Panorama indicates high risk for a chromosomal abnormality?
• Why is higher fetal fraction desirable in Panorama?
• When a discrepancy or high-risk result occurs after NIPT, which tests are typically used to complement the results?
• Individuals who only inherit one X chromosome have a condition called _______, also known as _________
• Which test can be started at 9 weeks gestation?
• True or False: cfDNA in maternal plasma originates exclusively from maternal cells.
• Panorama evaluates more than __________ SNPs.
• Is Panorama a diagnostic test or a screening test?
• Monozygotic twins arise from which conception scenario?
• Maternal mosaicism can lead to false fetal sex determination through the counting method.
• Specificity is the ability of a test to:
• Turnaround time for Panorama testing is typically 5-7 days.
• Differentiating between maternal and placental DNA allows for maternal mosaicism to be detected.
• In twin pregnancies, what essential step is required when interpreting Panorama results?
• Individuals who have three copies of chromosome 21 have ____________, also known as ____________.
• Chorionic villi sampling is typically done toward the end of the ______ trimester.
• Which quality-control measures help prevent sample mix-ups in Panorama testing?
• T/F: Only monozygotic twin pregnancy are high risk
• What type of biological sample is required for Panorama testing?
• Microdeletions in Panorama are detected how?
• Which statement best describes the possible outcomes from a sample that passes quality control?
• Which of the following is NOT part of Panorama's whole chromosome screening?
• Maternal serum screening is commonly included with NIPT as part of prenatal screening.
• If a result is atypical, it may prompt follow-up testing to determine whether non-fetal sources explain it.
• Panorama reports which type of PPV that uses real-world clinic outcome data?
• Twin to Twin Transfusion can lead to perinatal loss in _______ rate if untreated
• Which statement best describes why fetal cfDNA in maternal blood is considered placental in origin?
• Which statement best defines mosaicism?
• Which procedure uses amniotic fluid for diagnostic testing?
• What are the limitations of microdeletion detection on Panorama?
• After a high-risk Panorama result, which action is recommended?
• Which statement about vanishing twins and NIPT is consistent with the available guidance?
• ____ occurs when monochorionic twins share unequal amounts of the placenta's blood supply and affects 10% of monochorionic twins
• What should a negative Panorama result be interpreted as?
• Are additional microdeletion syndromes included in Panorama as an optional add-on?
• Which chromosomal condition is listed as a factor affecting fetal fraction?
• In Panorama, microdeletion detection is limited because:
• What is the fetal fraction cutoff used by Panorama?
• Are fetal balanced rearrangements detectable by Panorama?
• NIPT is not recommended for vanishing twin pregnancies.
• Which chromosome abnormality is associated with Down syndrome?
• Which statement best describes the relationship between gestational age at sampling and Panorama accuracy?
• Individuals with three copies of chromosome 18 have ________, also known as ________
• For Down syndrome, which statement best compares the PPV of maternal serum screening to Panorama?
• When considering a repeat 'no-call', which options should be discussed with genetic counseling?
• Along with NIPT, prenatal screening can include which of the following?
• Panorama testing can determine the sex of each twin.
• Which of the following is true about low-risk results for Trisomies 21, 18, 13, and Monosomy X?
• Why does positive predictive value depend on disease prevalence?
• What is a recommended counseling approach if there is a repeat 'no-call' after the first no-call?
• What fetal fraction is typically required to reliably report Panorama results?
• Which of the following lists the conditions included in Panorama's whole chromosome screen?
• How can maternal copy number variations influence Panorama results?
• Advanced maternal age currently starts at age ____
• NIPT like Panorama screens for certain aneuploidies by analyzing SNP patterns on chromosome fragments from which tissue?
• In twin pregnancies, Panorama results have what limitations?
• The presence of multiple fetal or placental genetic lineages in cfDNA testing is called what?
• How does maternal obesity specifically affect Panorama test results?
• Can maternal malignancy affect NIPT results, and if so, how?
• Fetal fraction for twins can be up to ________ higher, but fetal fraction per twin is lower
• ______________ is a measurement of the fluid at the back of the fetus's neck that can be an indication of a chromosomal abnormality.
• What is the purpose of positive predictive value in screening tests?
• List common reasons for discordant Panorama results compared to fetal karyotype.
• Which statement about zygosity testing in prenatal NIPT is true?
• Amniocentesis is typically done anytime after the start of the _______ trimester.
• If a provider asks 'how well does your test perform' what two metrics would you use and where would you locate these metrics?
• Describe the typical report format for Panorama results.
• Which chromosomal conditions are included in the standard Panorama report (excluding microdeletions)?
• What is the role of ultrasound findings in interpreting Panorama results?
• What is the purpose of internal controls in the Panorama assay?
• Which syndrome is caused by trisomy 18?
• What core result categories may Panorama report?
• Maternal serum screening can screen for ________ while Panorama cannot.
• What maternal CNV can cause a false positive on chromosome 21 in Panorama?
• Twins can be _________, meaning each twin has their own outer membrane and their own placenta.
• Which factors influence detection sensitivity for microdeletions on Panorama?
• Fetal fraction is the measurement of fetal cfDNA used as a basic quality metric.
• Sensitivity is the ability of a test to:
• Which statement best describes a plausible reason for an atypical Panorama result?
• What is a Single Nucleotide Polymorphism (SNP)?
• T/F: Panorama can screen for 45X and 22q11.2 deletion syndrome in both monozygotic and dizygotic twins
• Which is the most common factor contributing to incorrect calls in this testing context?
• Panorama is done using what type of sample from the pregnant individual?
• Which conditions are commonly reported in Panorama results?
• Panorama's PPVs are based on clinical outcome data.
• Which phrase correctly describes Turner syndrome?
• Panorama _______ be used for egg donor conceived pregnancies
• Which screening measure is commonly used in prenatal screening and is obtained via ultrasound?
• Which of the following best describes Panorama's testing scope?
• A karyotype represents the chromosome-level picture of the fetus.
• Summarize the clinical value of Panorama in prenatal care.
• Which configuration has one placenta and two amniotic sacs?
• Which statement best describes Panorama's reliability in the context of multiple gestations?
• How does Panorama use parental genotypes to infer the fetal genotype?
• The fraction of DNA in maternal plasma that originates from the placenta is called:
• Panorama tests for single gene disorders.
• Which factor can influence the level of information Panorama provides across different cases?
• Monochorionic Diamniotic twins have how many placentas and how many amniotic sacs?
• Panorama can distinguish between maternal and placental DNA fragments due to which technology?
• Panorama is a diagnostic test.
• What is Panorama designed to screen for in prenatal screening?
• Which factor is commonly associated with reduced fetal fraction leading to a no-call in Panorama?
• How does Panorama differ when Microdeletions option is used?
• Which statement describes a limitation related to detectable rearrangements in Panorama?
• What best describes the output of Panorama results?
• Which statement about aneuploid pregnancies is true?
• The positive predictive value for trisomy 21 on Panorama is ______%.
• What is a limitation of microdeletion reporting in Panorama?
• False positives in cfDNA testing can result from mosaicism confined to the placenta.
• Can maternal copy number variations cause a false positive for trisomy 21 on Panorama?
• Maternal serum AFP can be drawn as a stand-alone blood test for those concerned about neural tube defects.
• The high-risk result from the low fetal fraction algorithm corresponds to a risk of approximately what fraction for trisomy 18, trisomy 13, and triploidy?
• What standard disclaimers accompany Panorama reports?
• Dizygotic twins are produced when:
• Which of the following is a key pre-analytic step to ensure Panorama sample quality?
• What is the overarching interpretation of Panorama results?
• NIPT like Panorama can be done earlier than maternal serum screening and can be done throughout the pregnancy.
• How does fetal mosaicism affect Panorama results, particularly at low-level mosaicism?
• In Panorama, SNP analysis is used primarily to differentiate DNA fragments based on:
• Which of the following is NOT a factor affecting fetal fraction?
• Individuals with three copies of chromosome 13 have ______, also known as ______.
• Atypical findings are due to the test finding something that it isn't designed to look for like deletions or duplications.
• Which statement about Panorama's timing is true?
• Turnaround time for Panorama testing is most commonly within which window?
• Which of the following is a factor that affects fetal fraction?
• Which of the following is NOT listed as a factor affecting fetal fraction?
• What does the Panorama Microdeletions option include?
• Panorama is considered a screening test, not a diagnostic test.
• Cell free DNA (cfDNA) is defined as fragments of DNA found in which part of maternal blood?
• What is a 'no-call' result and what are typical next steps?
• ACOG guidance indicates prenatal testing for chromosomal abnormalities should be offered to which population?
• Chorionic villi sampling takes cells from the _______ in order to do diagnostic testing.
• Which mechanism can lead to a false-positive Panorama result for a fetal chromosomal abnormality?
• Diagnostic testing methods are invasive and carry a small risk of complication including miscarriage.
• Which statement correctly defines monosomy?
• Which statement best describes Panorama results in clinical interpretation?