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- Title
Rare autosomal trisomies on non-invasive prenatal testing: not as adverse as expected.
- Authors
He, Y.; Liu, Y.‐H.; Xie, R.‐G.; Liu, S.‐A.; Li, D.‐Z.; Liu, Y-H; Xie, R-G; Liu, S-A; Li, D-Z
- Abstract
Genome-wide sequencing of maternal plasma cell-free DNA (cfDNA) enables non-invasive prenatal testing (NIPT) of all 24 chromosomes. Nineteen cases opted for amniocentesis, all of which showed normal karyotype; among these, only five (three at risk for trisomy 14 and two at risk for trisomy 15) opted for additional chromosomal microarray analysis, which did not show unbalanced rearrangements or uniparental disomy (UPD) in any case. Several genome-wide cfDNA-based NIPT studies have reported RATs in association with a range of pregnancy complications, including miscarriage, true fetal mosaicism and UPD, as well as IUGR SP 1-3 sp .
- Subjects
PRENATAL diagnosis; TRISOMY; AMNIOTIC liquid; MEDICAL genetics; PREGNANCY complications; CHROMOSOME abnormalities
- Publication
Ultrasound in Obstetrics & Gynecology, 2019, Vol 54, Issue 6, p838
- ISSN
0960-7692
- Publication type
letter
- DOI
10.1002/uog.20264