When she and her colleagues began testing that idea in the laboratory, they observed wildly fluctuating aneuploidy
rates in animals not receiving any special treatment.
This approach also enabled detection of sex chromosome aneuploidy
that can be observed in reproductive pathology specimens.
Further asserting the importance of screening, this new opinion follows ACOG's Practice Guidelines in 2007 which recommended that the option of screening and invasive diagnostic testing for aneuploidy
be offered to all pregnant women, regardless of age.
However, because there are many other chromosome disorders that are without a sufficient treatment, their discovery of aneuploidy
correction may offer a lead to more cures in the future.
After cell-free DNA analysis became clinically available in 2011, ACOG and SMFM recommended it for women at increased risk of fetal aneuploidy
, including women 35 years or older, fetuses with ultrasonographic findings indicative of an increased risk of aneuploidy
, women with a history of trisomy-affected offspring, a parent carrying a balanced robertsonian translocation with an increased risk of trisomy 13 or trisomy 21, and women with positive first-trimester or second-trimester screening test results.
Integrated First Trimester and Second Trimester Screening for Aneuploidy
Limited case study follow-up of discordant NIPT results via fetal karyotyping and placental cytogenetic analysis has shown that confined placental mosaicism (CPM) (16-18) and placental mosaicism (1821 ), in which differences occur in the distribution and proportion of euploid and aneuploid cells, are important biological factors that either increase the effective fetal DNA fraction to yield a false-positive fetal aneuploidy
or decrease the effective DNA fraction to yield a false-negative aneuploidy
Clinically, this translates to differences in the accuracy of fetal aneuploidy
detection at different chromosomes.
Some American researchers, eager to dismiss the aneuploidy
theory, ask, what is the mechanism; meaning, how does aneuploidy
We determined sperm aneuploidy
for a subgroup of 34 unexposed men who were frequency-matched to the 34 exposed men on age and smoking habits.
Rather, they are specific ultrasound findings that have been associated with an increased risk for fetal aneuploidy
in certain high-risk populations, such as those of advanced maternal age or those with abnormal serum screening results.
Patients were also evaluated by age, bleeding history, intercurrent diseases, fetal aneuploidy
and smoking usage; 348 patients underwent amniocentesis.
And yesterday it revealed it had achieved its first confirmed pregnancy using the aneuploidy
The article, titled: Development and validation of concurrent preimplantatation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy
screening without whole genome amplification, describes the rigorous methods FEC employed to validate its test that can help couples at risk for having a child with a single gene disorder.
Early findings regarding cell-free DNA screening for the detection of fetal aneuploidy
in high-risk populations generated a great deal of buzz, but more recent research on the lower positive predictive value in the general population has tempered that excitement.