Noninvasive prenatal screening and diagnosis: from bench to clinic

Elke Mersy

Research output: ThesisDoctoral ThesisInternal

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The blood of a pregnant woman contains DNA from her unborn child. This DNA can be tested by taking a blood sample from the mother-to-be. In this dissertation, a blood sample was used to determine the sex of the baby and to test for the inheritance of myotonic dystrophy, a chronic muscular disorder. This dissertation also assessed the responsible use of this blood test to screen for Down's syndrome and less severe chromosomal disorders during pregnancy. All pregnant women will be able to request this test to screen for Down's syndrome as of April 2017.
Original languageEnglish
Awarding Institution
  • Maastricht University
  • Veltman, Joris, Supervisor
  • Smulders - de Die, Christine E., Supervisor
  • Frints, Suzanne, Co-Supervisor
Award date7 Dec 2016
Place of PublicationMaastricht
Print ISBNs9789462334397
Publication statusPublished - 2016


  • NIPT
  • prenatal
  • screening
  • pregnancy

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