Course Outline
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- Aneuploidy and Trisomy
- Aneuploidy and Trisomies
- Down Syndrome
- Edwards Syndrome
- Patau Syndrome
- Sex Chromosome Aneuploidy
- Which of the following are TRUE statements?
- Turner syndrome is a sex chromosomal condition that affects development in males and is the result of the presence of an extra X chromosome.
- Down Syndrome (Trisomy 21)
- Current Screening and Diagnostic Tests for Down Syndrome and Other Trisomies
- Screening Tests: Ultrasound
- Screening Tests: Maternal Serum Screening
- Patient Information for Prenatal Maternal Serum Screening
- Laboratory Test Report for Prenatal Screening Panels
- Prenatal Screening Test Panel Interpretation
- Diagnostic Tests Overview
- Diagnostic Tests: Chorionic villus sampling (CVS) and Amniocentesis
- Diagnostic Tests: Chorionic villus sampling (CVS) to Diagnose Confined Placental Mosaicism (CPM)
- Testing Methods Used for Chorionic villus sampling (CVS) and Amniocentesis Samples
- Testing Methods Used for Chorionic villus sampling (CVS) and Amniocentesis Samples, continued
- A definitive diagnosis of Down syndrome involves the identification of the presence of an extra number 21 chromosome.
- Unconjugated estriol (uE3-estriol) and dimeric inhibin A (DIA) are two of the tests that are part of the quadruple prenatal screening panel (quad scre...
- Which statements are TRUE when discussing confined placental mosaicism (CPM)?
- Noninvasive Prenatal Testing (NIPT): Cell-free DNA (cfDNA)
- Noninvasive Prenatal Testing (NIPT): Cell-free Fetal DNA (cffDNA)
- Noninvasive Prenatal Testing (NIPT): Cell-free Fetal DNA (cffDNA), continued
- Massively Parallel Sequencing (MPS) and Massively Parallel Signature Sequencing (MPSS)
- Massively Parallel Signature Sequencing (MPSS): Cloning of cDNA Fragments on Microbeads
- Massively Parallel Signature Sequencing (MPSS): Sequencing Process and Analysis of Sequence Patterns
- Summary of the MPS and MPSS Procedures
- Targeted DNA Analysis
- Commercially-Available cfDNA Prenatal Tests (NIPT) for Aneuploidy
- Commercially-Available cfDNA Prenatal Tests (NIPT) for Aneuploidy, continued
- Commercially-Available cfDNA Prenatal Tests (NIPT) for Aneuploidy, continued
- NIPT Testing Summary
- Which of the following statements are TRUE regarding cell-free fetal DNA (cffDNA) testing?
- Which of the following statements accurately describe the currently-available, commercial cfDNA prenatal tests (NIPT) for fetal aneuploidy?
- The FIRST step in the massively parallel sequencing (MPS) technique involves the preparation of DNA or RNA for sequencing and yields DNA fragments whi...
- Updated Recommendations on NIPT For Fetal Aneuploidy
- American College of Obstetricians and Gynecologists (ACOG) Recommendations
- Recommendations by Other Organizations
- Conclusions
- The latest updated ACOG recommendations on NIPT include the following: More than one selection may be correct.
- References
Additional Information
Level of Instruction: Intermediate
Intended Audience: Medical laboratory scientists, medical technologists, and technicians. This course is also appropriate for medical laboratory science students and pathology residents.
Author Information: David Moffa, PhD, has over 30 years of experience in the health care industry as an executive manager, clinical laboratory director, and medical laboratory scientist. He is currently a technical consultant for Kentmere Healthcare, Wilmington, DE, and until his retirement, was the Regional Director for LabCorp, Inc. He holds a PhD in medical biochemistry from the School of Medicine at West Virginia University.
Reviewer Information: Prior to her retirement in 2012, Jenny Camele was employed by Laboratory Corporation of America as the manager of customer service operations for the Fairmont West Virginia Region and a Quality Assurance committee member. She holds a Bachelor of Science degree in Medical Technology from West Virginia University.
