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- Aneuploidy and Trisomy
- Down Syndrome (Trisomy 21)
- Current Screening and Diagnostic Tests for Down Syndrome and other Trisomies
- Screening Tests: Ultrasound
- Screening Tests, continued: Maternal Serum Screening
- Patient Information for Prenatal Maternal Serum Screening
- Laboratory Test Report for Prenatal Screening Panels
- Prenatal Screening Test Panel Interpretation
- Diagnostic Tests
- True or False: 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...
- Noninvasive Prenatal Testing (NIPT): Cell-free Fetal DNA (cfDNA)
- Noninvasive Prenatal Testing (NIPT) using Cell-free Fetal DNA (cfDNA)
- 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
- Directed DNA Analysis
- Commercially-Available cfDNA Prenatal Tests for Aneuploidy
- Which of the following statements are true regarding cell-free fetal DNA (cfDNA) testing? (choose all that apply)
- Which of the following statements accurately describe the currently available cfDNA prenatal tests for fetal aneuploidy?
- The FIRST step in the massively parallel signature sequencing (MPSS) technique involves in vitro cloning of _________on microbeads.
- Updated Recommendations on NIPT For Fetal Aneuploidy
- The American College of Obstetricians and Gynecologists (ACOG) Recommendations
- Recommendations By Other Organizations
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, 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.