The biotechnology company, located in the Science + Technology Park at Johns Hopkins, has outlined one of the best potential therapies yet for people with Down syndrome and other chromosome disorders in a paper entitled, " Correction of Down syndrome and Edwards syndrome aneuploidies
in human cell cultures," published in the journal DNA Research.
Given that just eight aneuploidies
were present in the entire cohort of patients, the true test performance is difficult to determine.
Noninvasive prenatal testing of fetal aneuploidies
by massively parallel sequencing in a prospective Chinese population.
18, X, Y aneuploidies
and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations.
reported: "As NIPT identifies more fetal trisomies than FTS[first trimester screen], a NIPT unit cost of $665 allows a cost per trisomy case identified to be equivalent to that of FTS," in Prenatal Screening for Fetal Aneuploidies
with Cell-free DNA in the General Pregnancy Population: A Cost-effectiveness Analysis.
The positive detection rate for cell-free DNA testing of all aneuploidies
(5 for trisomy 21,2 for trisomy 18, and 1 for trisomy 13) was 100% (95% confidence interval, 99.
The underlying rate of maternal cancers that present with discordant NIPT-fetal karyotype results is unknown, but warrants consideration when multiple aneuploidies
Traditional non-invasive prenatal screening for autosomal aneuploidies
involves screening via a combination of ultrasound and serial detection of maternal serum markers in the first and second trimesters, with follow-up diagnosis by invasive procedures such as amniocentesis or chorionic villus sampling (CVS).
NOVP chemotherapy for Hodgkin's disease transiently induces sperm aneuploidies
associated with the major clinical aneuploidy syndromes involving chromosomes X, V, 18, and 21.
The presented data, obtained from 407 maternal blood samples, demonstrated 100 percent specificity and sensitivity when detecting aneuploidies
of five specific chromosomes.
The goal is to enable scientists to use this de-identified information to determine the positive and negative predictive value for noninvasive prenatal screens for common aneuploidies
such as trisomy 21.
While in women under age 30, NIPT misses about 22% of aneuploidies
CMA was equally efficacious in identifying all aneuploidies
and unbalanced rearrangements that had been identified by karyotyping.
The trial found that microarray analysis, which compares a fetus's DNA with a normal (control) DNA, performed as well as karyotyping in identifying common aneuploidies
(an abnormal number of chromosomes--an extra or missing chromosome causes genetic disorders such as Down syndrome and Edwards syndrome); it also identified additional abnormalities undetected by karyotyping.
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies