The requesting practitioner is responsible for obtaining and documenting this consent. Ethical considerations:Īll antenatal tests for fetal conditions raise important issues regarding informed consent from the patient. You will find further information for doctors and patients about the test in our dedicated section on NIPT. to the complex biology of pregnancy, rather than reflecting technical flaws in the design or delivery of NIPT. They can be due to placental mosaicism i.e. There is always a chance of an NIPT result being a false positive.įalse negative and false positive results may occur with any form of NIPT. There is always a small chance of an NIPT result being a false negative.Ī result indicating high probability of a specific disorder should be confirmed by invasive cytogenetic testing, for example, CVS or amniocentesis with cytogenetic analysis, before making major decisions regarding the pregnancy. Utility:Ī result indicating low probability of a specific disorder is usually reassuring regarding that disorder, but it must be interpreted in the light of other factors which influence the risk of the fetus having abnormal chromosomes. There is also the option for a genome-wide NIPT screen which covers chromosome macro-duplications and -deletions (larger than seven million base pairs) and rare monosomies and trisomies. There is the option to screen for fetal sex (no charge) or sex chromosome abnormalities such as monosomy X (Turner syndrome), XXY (Klinefelter syndrome), XYY and XXX (no charge) or both. The standard disorders covered by NIPT are: Non-invasive prenatal testing is a test of a pregnant woman's blood to screen for various chromosomal disorders in the developing fetus.
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