In the future, if appropriately validated and proven to be accurate, niPGT-A methods might even replace trophectoderm biopsy, reducing costs and risks of aneuploidy screening
The researchers note that the clinical adoption of cfDNA sequencing for chromosomal aneuploidy screening
has already had a global effect.
These genetic tests are possible during an IVF cycle: PGS 24-chromosome aneuploidy screening
(includes gender identification), PGS 5-chromosome aneuploidy screening
(includes gender identification), PGD for single gene disorders to avoid passing on hereditary disease (may be completed with 24-chromosome aneuploidy screening
and/or HLA Matching), PGD for balanced translocations or inversions, includes 24-chromosome aneuploidy screening
Preimplantation aneuploidy screening
using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure.
Growth in this segment can be attributed to the increasing maternal age, rising incidence of aneuploidy disorders, and strategic initiatives by key players to provide technologically advanced PGS products for aneuploidy screening
The main indication for performing invasive procedures was abnormal results of aneuploidy screening
for trisomy 21, followed by maternal age, and fetal structural abnormality The fetal karyotype was altered in 154 (26.1%) cases.
Equitable use of NIPT for common aneuploidy screening
in all women will require further reductions in test cost.
All pregnant women who attended the outpatient obstetric clinic were counselled about aneuploidy screening
and were offered routine first-trimester screening.
Mateu et al., "Improving FISH diagnosis for preimplantation genetic aneuploidy screening
," Human Reproduction, vol.
Detailed first- and second-trimester ultrasound scans, maternal characteristics and serum markers have been part of standard practice for aneuploidy screening
for more than two decades.
The American College of Obstetricians and Gynecologists (ACOG) recommends that all women be offered aneuploidy screening
during the first or second trimester of pregnancy.
Society for Maternal-Fetal Medicine Statement: clarification of recommendations regarding cell-free DNA aneuploidy screening
. Am J Obstet Gynecol.