Currently, 3 famous molecular tests are applied to detect the most common aneuploidies
: multiplex ligation-dependent probe amplification (MLPA), interphase FISH, and QF-PCR.
Beside this unprecedented high detection rate of common aneuploidies
, some studies highlighted the usefulness of this screening strategy to detect a much broader range of chromosomal aberrations, including triploidy, small supernumerary marker chromosomes and rare numerical and/or structural chromosomal abnormalities (5).
The present report confers the use of SD-QF-PCR for rapid detection of aneuploidies
for developing countries such as India.
Furthermore, while some clinical laboratories issued reports of "test failure," others called out results that would be incompatible with a normally developing fetus, such as monosomy 13 or multiple aneuploidies
In the male population aneuploidies
appear due to meiotic synapse abnormalities resulting in the creation of bivalent sister chromatids which lead to abnormal sperm morphology production, or meiotic arrest.
Additional hybridisation rounds for these chromosomes, using probes that bind to different loci, were conducted to rescue the nonconclusive results and to confirm certain aneuploidies
While the technology for fetal cfDNA testing becomes more refined and there is general acknowledgement of its high detection rate for the common aneuploidies
, several recommendations have been made about the place of NIPT in contingency screening, in both the first and second trimesters.
North America held largest share in the global market of cell-free fetal DNA testing followed by Europe, Japan and Asia Pacific owing to high occurrence of several diseases and increasing number of aneuploidies
, great advancement in field of aneuploidy screening and developed healthcare infrastructure.
The advent of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies
has transformed the typical obstetrics practice and the prenatal care experience for many pregnant women.
It is important during pretest counseling to explain that cfDNA cannot detect all significant chromosomal aneuploidies
. Some serious abnormalities will be undetected; therefore, some women may prefer more comprehensive prenatal testing (table 3).
368 (44.23%) were abnormal, in which 84.24% (310/368) were aneuploidies
and 15.76% (58/368) were polyploidies.
Most (seven) had multiple aneuploidies
, two had a single trisomy, and one had a single monosomy.
The company added that the informaSeq Prenatal Test is an advanced, non-invasive, next-generation prenatal screening assay that can assess risk for multiple fetal chromosomal aneuploidies
, or abnormalities in chromosomes, from a single maternal blood draw.
It reviews current methods and experiences, then provides an atlas of normal and abnormal human preimplantation development; micromanipulation and biopsy of polar bodies, blastomeres, and blastocytes; nuclear transfer techniques and the prospect for artificial gamete formation; and preimplantation diagnosis for aneuploidies
, translocations, and single-gene disorders.