AMT 2 Exam 4 questions with answers
Quad |Screen |- |ANSWERS✔✔ |Done |in |second |trimester |
1) |Serum |AFP
2) |Free |beta |hCG |
3) |Unconjugated |estriol
4) |Inhibin |A
Nuchal |translucency |(NT) |- |ANSWERS✔✔ |1) |Done |in |first |trimester |
2) |ultrasound |measurement |of |fluid |and |edema |at |the |back |of |the |fetal |neck.
3) |Increased |NT |- |turner |syndrome, |cardiac |defects, |fetal |hydrops, |down |syndrome
Limitations |of |traditional |screening |- |ANSWERS✔✔ |1) |Low |sensitivity |- |significant |number
|of |fetal |defects |will |not |be |discovered |until |birth |or |later
2) |Low |specificity |- |significant |number |of |women |will |undergo |invasive |testing
|unnecessarily, |incurring |the |risks |of |miscarriage |that |accompany |the |definitive |testing.
3) |Excludes |a |lot |of |genetic |disorders
Sequenom/LabCorp |- |ANSWERS✔✔ |MaterniT21 |test
1) |first |was |down |syndrome |only, |added |13, |18, |and |sex |aneuploidies |
2) |2013 |- |trisomies |16, |22, |& |microdeletions
3) |2016 |- |bought |by |LabCorp
4) |Originally |used |MALDI-TOF |then |moved |to |NGS
Illumina |(Verinata) |- |ANSWERS✔✔ |Verifi |test
1) |Uses |NGS |but |analysis |uses |"denominator" |chromosomes |to |match |sequencing |efficiency.
|
, 2) |screens |for |trisomies |21, |18, |and |13, |sex |chromosome |aneuploidies, |sex |identification,
|microdeletions.
Ariosa/Roche |(Aria) |- |ANSWERS✔✔ |Harmony |Prenatal |test |- |10 |weeks
1) |originally |used |NGS |w/ |added |enrichment |step
2) |Targeting |using |DANSR
3) |After |Roche |takeover |in |2014 |- |went |to |SNP |microarray
4) |FORTE |- |derives |probability |scores |incorporating |maternal |risk |factors
5) |focuses |on |common |triploidys
Natera |- |ANSWERS✔✔ |Panorama |test
1) |trisomies |21, |18, |13, |sex |aneuploidies, |microdeletions, |vanishing |twins, |molar
|pregnancies
2) |genotypes |maternal |SNPs |from |buffy |coat |then |both |fetal |and |maternal |from |plasma
Earliest |use |of |automation |- |ANSWERS✔✔ |1) |first |automated |thermal |cycler, |"Mr. |Cycler" |
2) |Responsible |for |controlling |temperature |during |PCR.
3) |first |used |for |sickle |cell |disease
Why |is |automation |of |nucleic |acid |extraction |beneficial |- |ANSWERS✔✔ |1) |Increase
|throughput |by |reducing |manual |manipulation.
2) |Reduce |turnaround |times |by |increasing |capacity.
3) |Improve |and |standardize |extraction |efficiency |and |quality |from |a |growing |number |of
|biological |samples
Closed |system |automation |- |ANSWERS✔✔ |Require |manufacturer-provided |reagents |to
|perform |pre-programmed |extraction |protocols.
Quad |Screen |- |ANSWERS✔✔ |Done |in |second |trimester |
1) |Serum |AFP
2) |Free |beta |hCG |
3) |Unconjugated |estriol
4) |Inhibin |A
Nuchal |translucency |(NT) |- |ANSWERS✔✔ |1) |Done |in |first |trimester |
2) |ultrasound |measurement |of |fluid |and |edema |at |the |back |of |the |fetal |neck.
3) |Increased |NT |- |turner |syndrome, |cardiac |defects, |fetal |hydrops, |down |syndrome
Limitations |of |traditional |screening |- |ANSWERS✔✔ |1) |Low |sensitivity |- |significant |number
|of |fetal |defects |will |not |be |discovered |until |birth |or |later
2) |Low |specificity |- |significant |number |of |women |will |undergo |invasive |testing
|unnecessarily, |incurring |the |risks |of |miscarriage |that |accompany |the |definitive |testing.
3) |Excludes |a |lot |of |genetic |disorders
Sequenom/LabCorp |- |ANSWERS✔✔ |MaterniT21 |test
1) |first |was |down |syndrome |only, |added |13, |18, |and |sex |aneuploidies |
2) |2013 |- |trisomies |16, |22, |& |microdeletions
3) |2016 |- |bought |by |LabCorp
4) |Originally |used |MALDI-TOF |then |moved |to |NGS
Illumina |(Verinata) |- |ANSWERS✔✔ |Verifi |test
1) |Uses |NGS |but |analysis |uses |"denominator" |chromosomes |to |match |sequencing |efficiency.
|
, 2) |screens |for |trisomies |21, |18, |and |13, |sex |chromosome |aneuploidies, |sex |identification,
|microdeletions.
Ariosa/Roche |(Aria) |- |ANSWERS✔✔ |Harmony |Prenatal |test |- |10 |weeks
1) |originally |used |NGS |w/ |added |enrichment |step
2) |Targeting |using |DANSR
3) |After |Roche |takeover |in |2014 |- |went |to |SNP |microarray
4) |FORTE |- |derives |probability |scores |incorporating |maternal |risk |factors
5) |focuses |on |common |triploidys
Natera |- |ANSWERS✔✔ |Panorama |test
1) |trisomies |21, |18, |13, |sex |aneuploidies, |microdeletions, |vanishing |twins, |molar
|pregnancies
2) |genotypes |maternal |SNPs |from |buffy |coat |then |both |fetal |and |maternal |from |plasma
Earliest |use |of |automation |- |ANSWERS✔✔ |1) |first |automated |thermal |cycler, |"Mr. |Cycler" |
2) |Responsible |for |controlling |temperature |during |PCR.
3) |first |used |for |sickle |cell |disease
Why |is |automation |of |nucleic |acid |extraction |beneficial |- |ANSWERS✔✔ |1) |Increase
|throughput |by |reducing |manual |manipulation.
2) |Reduce |turnaround |times |by |increasing |capacity.
3) |Improve |and |standardize |extraction |efficiency |and |quality |from |a |growing |number |of
|biological |samples
Closed |system |automation |- |ANSWERS✔✔ |Require |manufacturer-provided |reagents |to
|perform |pre-programmed |extraction |protocols.
