Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends

Tom Rabinowitz, Noam Shomron*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother's plasma cell-free DNA (cfDNA). Though currently available for various monogenic diseases through detection of point mutations, NIPD is limited to detecting one mutation or up to several genes simultaneously. Noninvasive prenatal whole exome/genome sequencing (WES/WGS) has demonstrated genome-wide detection of fetal point mutations in a few studies. However, Genome-wide NIPD of monogenic disorders currently has several challenges and limitations, mainly due to the small amounts of cfDNA and fetal-derived fragments, and the deep coverage required. Several approaches have been suggested for addressing these hurdles, based on various technologies and algorithms. The first relevant software tool, Hoobari, recently became available. Here we review the approaches proposed and the paths required to make genome-wide monogenic NIPD widely available in the clinic.

Original languageEnglish
Pages (from-to)2463-2470
Number of pages8
JournalComputational and Structural Biotechnology Journal
StatePublished - 2020


  • Genome-wide
  • Monogenic disorders
  • NIPD
  • NIPT
  • Noninvasive prenatal diagnosis


Dive into the research topics of 'Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends'. Together they form a unique fingerprint.

Cite this