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Rh Blood Group01:19

Rh Blood Group

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The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.
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Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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First trimester noninvasive fetal RHD genotyping using maternal dried blood spots.

Yali Xiong1, Stacey Jeronis2, Barbara Hoffman1

  • 1Fels Institute for Cancer Research and Molecular Biology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.

Prenatal Diagnosis
|January 13, 2017
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Summary
This summary is machine-generated.

Maternal dried blood spots enable noninvasive fetal RHD genotyping and gender determination during the First Trimester Screen. This method offers high accuracy and convenience for prenatal diagnostics.

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Area of Science:

  • Genetics
  • Maternal-Fetal Medicine
  • Molecular Diagnostics

Background:

  • Noninvasive prenatal testing (NIPT) is crucial for managing RhD incompatibilities.
  • Current methods for fetal RHD genotyping can be invasive or require fresh samples.
  • Integrating fetal RHD genotyping into routine screening offers significant advantages.

Purpose of the Study:

  • To evaluate maternal dried blood spots (DBS) as a source for noninvasive fetal RHD genotyping.
  • To assess the feasibility of a combined one-step test for First Trimester Screen and fetal RHD genotyping.
  • To determine the accuracy of fetal RHD genotyping and gender determination using maternal DBS.

Main Methods:

  • Maternal DBS and peripheral blood samples were collected from 19 RhD-negative pregnant women during the First Trimester Screen.
  • DNA was extracted from DBS for sequential real-time polymerase chain reaction (PCR) analysis.
  • Fetal RHD genotypes and gender were determined, with RhD serological types confirmed post-delivery.

Main Results:

  • Fetal RHD genotyping from maternal DBS showed 100% concordance with postnatal serological results (19/19).
  • The test demonstrated 100% sensitivity, specificity, positive predictive value, and negative predictive value for RHD status.
  • Fetal gender determination using maternal DBS achieved 100% sensitivity and 91.6% specificity.

Conclusions:

  • Maternal DBS are a viable and accurate source for noninvasive fetal RHD genotyping.
  • This approach can be integrated into the routine First Trimester Screen, offering convenience and flexibility.
  • Further large-scale studies are underway to implement this in routine prenatal care.