Journal article

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Nicola Jane Flowers, Trent Burgess, Olivia Giouzeppos, Grace Shi, Clare Jane Love, Clare Elizabeth Hunt, Katrina Louise Scarff, Alison Dalton Archibald, Mark Domenic Pertile

GENETICS IN MEDICINE | SPRINGERNATURE | Published : 2020

Abstract

PURPOSE: Balanced reciprocal translocation carriers are at increased risk of producing gametes with unbalanced forms of the translocation leading to miscarriage, fetal anomalies, and birth defects. We sought to determine if genome-wide cell-free DNA based noninvasive prenatal screening (gw-NIPS) could provide an alternative to prenatal diagnosis for carriers of these chromosomal rearrangements. METHODS: This pilot series comprises a retrospective analysis of gw-NIPS and clinical outcome data from 42 singleton pregnancies where one parent carried a balanced reciprocal translocation. Gw-NIPS was performed between August 2015 and March 2018. Inclusion criteria required at least one translocatio..

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