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Noninvasive prenatal Testing
Diagnostic Procedures
Microarray/Screening
Fetal syndromes
Potpourri
100
You have a 32 yo G3P0020 patient who opts for aneuploidy screening and undergoes the first part of her Sequential Screen. She returns to clinic for her second visit with you frustrated that you did not offer her NIPT, which was offered to her neighbor by a private practice out of the Brigham. You explain to her that ACOG/SMFM/NSGC criteria for offering NIPT include all of the following except: A. Age > 35 yo at delivery B. Ultrasound abnormality suggestive of aneuploidy C. History of miscarriage D. Hx of aneuploidy detectable by NIPT E. Robertsonian translocation involving 13 or 21
What is C. History of miscarriage
100
You have a 40 yo G4P3003 pt who is considering CVS. She was counseled by the MFM-Genetics fellow but left feeling confused. When she asks you about the risk of procedure-related miscarriage risk, you quote the most recent ACOG practice bulletin and tell her: A. 1 in 100 B. 1 in 250 C. 1 in 370 D. 1 in 455 E. 1 in 900
What is D- 1 in 455
100
If all women age 35 or older had diagnostic testing for aneuploidy, the detection rate for Down syndrome would be approximately: A. 10% B. 20% C. 50% D. 75% E. 90%
What is B, 20%
100
Approximately one in ___ live births involves some type of chromosomal abnormality that results in an abnormal fetal or neonatal phenotype. A. 50 B. 150 C. 250 D. 350 E. 500
What is B, 150
100
A 22 yo G1 presents to your clinic for a new OB visit at 11 weeks EGA. She expresses interest in aneuploidy screening. You counsel her that the Sequential Screen as a ___% detection rate for Down syndrome: A. 64-70% B. 81% C. 82-87% D. 95% E. 99% C.
What is D- 95% A. NT only B. Quad C. 1T E. NIPT
200
You have a 38 yo G1 pt contemplating whether to have NIPT or undergo a CVS. To help with her decision-making, she asks you what percent of cytogenetic abnormalities are missed by NIPT alone in a patient her age (compared to karyotype)? A. 5% B. 10% C. 20% D. 40% E. 60%
What is D- 40%
200
Your 34 yo G1 patient has a positive Sequential Screen (1 in 75 risk of Down syndrome) at 17 weeks. When you call the result out she asks when is the earliest she could get a preliminary result, if she undergoes amniocentesis tomorrow morning (Tuesday)? A. Tuesday evening B. Wednesday C. Friday D. One week from the procedure E. 14 days from the procedure
What is B- Wednesday (FISH)
200
When structural abnormalities are detected by prenatal ultrasound examination, chromosomal microarray will identify clinically significant chromosomal abnormalities in approximately what percent of fetuses that have a normal karyotype? A. 0.5% B. 2% C. 3% D. 6% E. 10%
What is D 6%
200
You have a 22 yo G1 patient who presents for care at 17 weeks. You counsel her regarding aneuploidy screening, and she declines any blood testing, stating, "I'll just have the ultrasound to see if the baby has any problems." You then counsel her that: A. That is reasonable, since very few babies with Down syndrome are born to women under the age of 35. B. Genetic ultrasound detects only about 50% of fetuses with Down syndrome (which is less than NT alone). C. She is beyond the optimal window for Quad Screening, so ultrasound alone may be the most effective option for her. D. If she chooses ultrasound for her primary method of aneuploidy screening she should also undergo fetal echocardiogram.
What is B- Genetic ultrasound alone detects approximately 50-60% of fetuses with Down syndrome
200
A 39 yo G3P1011 presents for her anatomic survey at 18 3/7 weeks gestation. She has had genetic counseling and declined aneuploidy screening or testing. Ultrasound findings include a suspected VSD, a thickened nuchal fold, echogenic bowel, a choroid plexus cyst, and mild bilateral pelviectasis. All of the following are associated with an increased risk for Down syndrome except: A. choroid plexus cysts B. thickened nuchal fold C. cardiac defects D. renal pelviectasis E. echogenic bowel
What is A- choroid plexus cysts
300
All of the following patients should be offered cell-free DNA screening except: A. A 24 yo G1 with an increased nuchal fold on her ultrasound B. A 42 yo G1 with an IVF pregnancy who had preimplantation genetic screening C. A 38 yo G4P3013 with a di-di twin pregnancy D. A 27 yo G2P1000 with a history of a son with Trisomy 18, status post neonatal demise on DOL3. E. All of the above patients should be offered cell-free DNA screening
What is C- A 38 yo G4P3013 with a di-di twin pregnancy
300
A 27 yo G3P2002 has a positive First Screen result return at 14 weeks gestation. She undergoes genetic counseling and is scheduled for an amniocentesis at 15 weeks. When she asks why an amniocentesis cannot be performed right now, you quote the higher risk of ____ prior to 15 weeks: A. Pregnancy loss B. Club foot C. Culture failure D. A and C E. A, B, and C
What is E- A, B and C
300
Chromosomal microarray analysis can identify all of the following except for A. Adult-onset disease B. Consanguinity C. Balanced translocations D. Variants of unknown significance E. Unbalanced translocations
What is C- balanced translocations (or triploidy*, or low level mosaicism)
300
Your 39 yo G3P0020 pt w/ cHTN comes to see you immediately following her 28 week growth ultrasound, visibly distressed by the findings. She and her 49 year old partner conceived via clomid after a long period of infertility. You peek at the sonographer's notes, which say: "shortened long bones, trident hand, frontal bossing." Which of the following clinical features was a risk factor for this condition? A. Advanced paternal age B. Advanced maternal age C. Clomid use D. Uteroplacental insufficiency from cHTN E. No known risk factors
What is A- advanced paternal age
300
You receive a call from a patient to discuss her first trimester ultrasound results. You read the report, which notes a cystic hygroma. You counsel the patient that this finding is associated with all of the following except: A. An increased risk of IUGR B. An increased risk of a skeletal dysplasia or other genetic syndrome C. An increased risk of structural malformations, including congenital heart defects and diaphragmatic hernia D. An approximately 50% risk of aneuploidy E. A less than 20% likelihood of a healthy term neonate
What is A- an increased risk of IUGR
400
After appropriate counseling you send NIPT on your 37 yo G2P1001 patient at 13 weeks. Her pregnancy is otherwise complicated by asthma and obesity. No result is able to be obtained from her sample. The fetal fraction is 5%. You counsel her that: A. Her result is likely attributable to an error in sample handling or processing; she should repeat the test now. B. While she technically does not have a screening result, a low fetal fraction is associated with a decreased risk of aneuploidy. C. While she technically does not have a screening result, a high fetal fraction is associated with a decreased risk of aneuploidy. D. In general, obese patients have a lower fetal fraction than non-obese patients. E. While it is true that obese patients tend to have a lower fetal fraction than non-obese patients, patients with a no-result are also at an increased risk of aneuploidy.
What is E. In one study 8% of samples (85 of 1051)were "no-call." Of those 85 samples, 20 were found to have aneuploidy. That is a 22% rate of aneuploidy!
400
Your patient undergoes amniocentesis at 20 weeks due to a positive Sequential Screen for Trisomy 21. Unfortunately, she experiences amniotic fluid leakage beginning the night following the procedure. (The FISH is normal). When she returns for counseling, you tell her that perinatal survival following procedure-induced midtrimester amniotic membrane rupture is: A: 10-15% B. 20-25% C. 50% D. 70-75% E. greater than 90%
What is E- greater than 90%
400
Your patient's Sequential Screen returns as high risk for Down syndrome. You suspect the following analytes were high: A. PAPP-A B. hcg C. inhibin D. PAPP-A and hcg E. inhibin and hcg
What is E- inhibin and hcg
400
You are seeing a 25 yo G1 at 19 weeks with bipolar disorder in clinic following her anatomy scan. You receive a preliminary ultrasound report noting ultrasound findings of micrognathia and a suspected VSD. Based on what you know so far, you suspect: A. Lithium teratogenicity B. Lamictal teratogenicity C. Noonan syndrome D. Turner syndrome E. 22q11.2 microdeletion syndrome
What is E- 22q11.2 microdeletion syndrome
400
You are following a low-risk 26 yo G3P0020 in resident clinic. Unfortunately, she presents with decreased fetal movement for 2 days at 36 weeks and is found to have a fetal demise. The stillborn male has a normal appearance. You send fetal tissue for microarray analysis. However, before insurance will approve the test, you must justify why it is superior to karyotype in this clinical scenario. You state: A. The patient is not AMA so microarray is more likely to identify any genetic cause for the demise. B. Karyotype has a higher likelihood of test failure since it requires dividing cells, whereas microarray does not require dividing cells. C. Karyotype can only be performed from amniotic fluid or cord blood, whereas microarray can be performed on a variety of fetal tissues. D. There were no gross abnormalities on exam of the stillborn male; therefore microarray is likely to be of higher yield than karyotype. E. None of the above
What is B- Karyotype has a higher likelihood of test failure since it requires dividing cells, whereas microarray does not require dividing cells.
500
What was the positive predictive value (PPV) of NIPT in Dr. Bianchi's 2014 CARE study of low risk women? A. 25% B. 45% C. 65% D. 75% E. 95%
What is B- 45%
500
Which of the following is true regarding amniocentesis in women with viral infections: A. Transmission of HIV with amniocentesis does not appear to be increased in women treated with HAART when the viral load is undetectable. B. The risk of transmission of viral infections with CVS is prohibitively high. C. The only way to guarantee no transmission of hepatitis C virus with amniocentesis is by having no detectable hepatitis C RNA in the maternal serum. D. Limited data suggests an inverse relationship between hepatitis B viral load and vertical transmission. E. None of the above
What is A. Transmission of HIV with amniocentesis does not appear to be increased in women treated with HAART when the viral load is undetectable.
500
In a patient undergoing amniocentesis for the indication of AMA, what is the incremental yield of microarray over karyotype in the detection of genetic abnormalities? A. 1.7% B. 2.4% C. 3.5% D. 6.0% E. No better than karyotype
What is A. 1.7%
500
You have a 41 yo G4P3003 patient who undergoes CVS for the indication of AMA. A mosaic result is obtained. The pt has genetic counseling and undergoes amniocentesis, which reveals a normal 46,XY karyotype. Confined placental mosaicism is suspected. After birth the patient's son is transferred to the NICU with significant hypotonia. After more testing she is informed that her son has a syndrome associated with intellectual disability, obesity, and excessive appetite. What chromosome was likely involved in the mosaic result and the baby's condition? A. 21 B. 15 C. 18 D. 16 E. 5
What is chromosome 15
500
You have a 26 yo G2P1001 pt whose anatomy scan reveals multiple fetal anomalies (large VSD, omphalocele, club foot). Her insurance denies a microarray so amniocentesis is sent. The result is the following balanced translocation: 46,XY, t(12;18)(q24.1;q11.2). Parental chromosomes are sent and reveal that your patient has the same translocation. How should you counsel your patient? A. As the translocation is balanced, and she is phenotypically normal, this is likely not the cause of her fetus' multiple anomalies B. She is at risk for a chromosomally imbalanced offspring in the future. C. As the translocation involves only the short arms of the chromosomes it is unlikely to be the cause of her fetus' anomalies. D. This is a large translocation and is likely the underlying cause of her fetus' multiple anomalies E. A and B
What is A and B- A. As the translocation is balanced, and she is phenotypically normal, this is likely not the cause of her fetus' multiple anomalies B. She is at risk for a chromosomally imbalanced offspring in the future.