NEW ORLEANS -- Some of the hurdles on the path toward accurate first-trimester aneuploidy screening
may be less difficult to clear than previously thought, according to the results of two related studies presented at the annual meeting of the American College of Obstetricians and Gynecologists.
Image quality with ultrasound for aneuploidy screening
can be quite poor due to tissue density and decreased velocity in traveling sound waves.
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
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.
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
Discuss cell-free DNA testing when offering fetal aneuploidy screening
to pregnant women.
Its pre-implantation genetic testing includes aneuploidy screening
, translocation testing and single gene testing.
The ACOG/SMFM opinion adds that the cfDNA technology for prenatal aneuploidy screening
is rapidly changing, and that "any recommendations regarding its use in screening also will likely evolve quickly.