Wednesday 13 August 2014

Methods of prenatal screening and diagnosis

There are assorted means of classifying the methods available, including the invasiveness and the time performed.
Invasiveness Test Comments Time
Non-invasive Fetal beef in affectionate claret (FCMB) Based on accessory of fetal beef which broadcast in affectionate blood. Since fetal beef authority all the abiogenetic advice of the developing fetus they can be acclimated to accomplish prenatal diagnosis. First trimester
Non-invasive Cell-free fetal DNA in affectionate blood Based on DNA of fetal agent circulating in the affectionate blood. Testing can potentially analyze fetal aneuploidy[5] (available in the United States, alpha 2011) and gender of a fetus as aboriginal as six weeks into a pregnancy. Fetal DNA ranges from about 2-10% of the absolute DNA in affectionate blood.
Cell-free fetal DNA has aswell auspiciously provided the adeptness to accomplish accomplished genome sequencing of the fetus, appropriately chargeless the complete DNA arrangement of every gene.[6]
First trimester
Non-invasive Preimplantation abiogenetic assay (PGD) During in vitro fertilization (IVF) procedures, it is accessible to sample beef from animal embryos above-mentioned the implantation.[7] PGD is in itself non-invasive, but IVF usually involves invasive procedures such as transvaginal oocyte retrieval prior to implantation
Non-invasive External examination Examination of the woman's uterus from alfresco the body. First or additional trimester
Non-invasive Ultrasound detection Commonly dating scans (sometimes accepted as booking scans) from 7 weeks to affirm affluence dates and attending for twins. The specialised nuchal browse at 11–13 weeks may be acclimated to analyze college risks of Downs syndrome. Later assay scans from 18 weeks may assay for any aberrant development. First or additional trimester
Non-invasive Fetal heartbeat Listening to the fetal heartbeat First or additional trimester
Non-invasive Non-stress test Use of cardiotocography during the third trimester to adviser fetal wellbeing Third trimester
Less invasive Transcervical retrieval of trophoblast cells Cervical fungus aspiration, cervical swabbing, and cervical or intrauterine lavage can be acclimated to retrieve trophoblast beef for analytic purposes, including prenatal abiogenetic analysis. Success ante for retrieving fetal trophoblast beef alter from 40% to 90%.[8] It can be acclimated for fetal sex assurance and analyze aneuploidies.[8] Antibody markers accept accurate advantageous to baddest trophoblast beef for abiogenetic assay and to authenticate that the affluence of recoverable trophoblast beef diminishes in aberrant gestations, such as in ectopic affluence or anembryonic gestation.[8] First trimester[8]
Less invasive Maternal serum screening Including ОІ-hCG, PAPP-A, alpha fetoprotein, inhibin-A.
See abstracted area below
First or additional trimester
More invasive Chorionic beard sampling Involves accepting a sample of the chorionic beard and testing it. This can be done beforehand than amniocentesis, but may accept a college accident of miscarriage, estimated at 1%. After 10 weeks
More invasive Amniocentesis This can be done already abundant amniotic aqueous has developed to sample. Beef from the fetus will be amphibian in this fluid, and can be afar and tested. Abortion accident of amniocentesis is frequently quoted as 0.06% (1:1600). By amniocentesis is aswell accessible to cryopreserve amniotic axis cells.[9][10][11] After 15 weeks
More invasive Embryoscopy and fetoscopy Though rarely done, these absorb putting a delving into a women's uterus to beam (with a video camera), or to sample claret or tissue from the antecedent or fetus.
More invasive Percutaneous umbilical bond claret sampling PUBS is a analytic abiogenetic analysis that examines claret from the fetal umbilical bond to ascertain fetal abnormalities. 24–34 weeks
Maternal serum screening[edit]
First trimester affectionate serum screening can assay levels of chargeless ОІ-hCG, PAPP-A, complete or beta hCG, or h-hCG in the woman's serum, and amalgamate these with the altitude of nuchal airiness (NT). Some institutions aswell attending for the attendance of a fetal nasalbone on the ultrasound.
Second trimester affectionate serum screening (AFP screening, amateur screen, cloister screen, or penta screen) can assay levels of alpha fetoprotein, ОІ-hCG, inhibin-A, estriol, and h-hCG (hyperglycosolated hCG) in the woman's serum.
The amateur analysis measures serum levels of AFP, estriol, and beta-hCG, with a 70% acuteness and 5% false-positive rate. It is complemented in some regions of the United States, as the Cloister analysis (adding inhibin A to the panel, consistent in an 81% acuteness and 5% false-positive amount for audition Down affection if taken at 15–18 weeks of gestational age).[12]
The biomarkers PAPP-A and β-hCG assume to be adapted for pregnancies consistent from ICSI, causing a college false-positive rate. Alteration factors accept been developed and should be acclimated if screening for Down’s affection in article pregnancies afterwards ICSI,[13] but in accompanying pregnancies such alteration factors accept not been absolutely elucidated.[13] In vanishing accompanying pregnancies with a additional gestational sac with a asleep fetus, aboriginal trimester screening should be based alone on the affectionate age and the nuchal airiness browse as biomarkers are decidedly adapted in these cases

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