Publications by authors named "Elaine Holgado"
Objective: To examine the antenatal imaging features, intrapartum findings and early postpartum course of pregnancies with trisomy 21 (T21) at a tertiary hospital in the United Kingdom.
Methods: Women with pregnancies diagnosed with T21 on antenatal or post-mortem/postnatal karyotyping, from February 2010-2020. Outcome measures included antenatal imaging findings, fetal growth restriction (FGR), birthweight, mode of delivery and early neonatal outcomes.
Objective: Non-invasive prenatal testing (NIPT) is increasingly being adopted as a screening test in the UK and is currently accessed through certain National Health Service healthcare systems or by private provision. This audit aims to describe reasons for and results of cytogenomic investigations carried out within UK genetic laboratories following an NIPT result indicating increased chance of cytogenomic abnormality ('high-chance NIPT result').
Method: A questionnaire was sent out to 24 genetics laboratories in the UK and completed by 18/24 (75%).
Objective: To review the frequency and analyse the origin of completely discrepant results observed between QF-PCR and karyotyping in chorionic villus samples (CVS) as a result of placental mosaicism. Also, to assess QF-PCR results for biallelic or triallelic patterns and determine their significance.
Methods: Between May 2002 and December 2009, 22 825 CVS were received at TDL Genetics for processing by QF-PCR and karyotype.
Objective: To demonstrate that glass disruption beads dissociate chorionic villus samples releasing DNA from mesenchymal and cytotrophoblast cells that is suitable for processing by CVS-PCR (rapid molecular aneuploidy testing). This method is quicker than conventional methods and may limit discrepancies between PCR and karyotype in certain types of placental mosaicism.
Method: DNA was extracted from villus samples by mechanical disruption of the cells using glass beads.