![]() ![]() Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing. Clinical implementation of NIPT – technical and biological challenges. Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies. Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA. Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing. Fetal sex determination in twin pregnancies using non-invasive prenatal testing. (2019) Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening. (2019) Noninvasive Prenatal Testing and Detection of Occult Maternal Malignancies. (2021) Outcome of publicly funded nationwide first-tier noninvasive prenatal screening. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge. The weight of the mother prior to the pregnancy exceeded 100 kg.Pregnancy with a ‘vanishing twin’ (original twin pregnancy with one baby deceased early in pregnancy).Monozygotic or dizygotic twin pregnancy or multiple pregnancy (identical and non-identical twins).It is important to communicate these so that we can take them into account when interpreting the results: With a normal NIPT result, there is still a small chance that your baby may still have a chromosomal abnormality.Ī number of factors can affect the reliability of NIPT.In some cases, the NIPT result is false negative.An abnormal test result should therefore always be confirmed by an invasive test (preferably by amniocentesis).In this case the test results indicate that the baby has a trisomy, whereas this is not true.In some cases, the NIPT result is false positive.An overview of the diagnostic experience and reliability of NIPT at UZ Leuven can be found in this brochure.NIPT has an unprecedented sensitivity for detection of trisomy 21, 18 and 13 in the baby.Since November 2013, over 100,000 analyses have been completed successfully in our center. ![]() To have complete certainty, an abnormal NIPT result should always be confirmed by an invasive test, preferably by amniocentesis. Abnormal: there is a strong suspicion of the presence of trisomy 21, 18 or 13 in the baby.Normal: there is no indication for the presence of trisomy 21, 18 or 13 in the baby.Please only contact us in case you have not received a result after 10 calendar days. In case of an abnormal result, one of our centers’ clinical geneticists will inform both you and your physician.You will also receive a hard copy of these results.The results can be consulted in your online medical file through ‘ mynexuzhealth’.In most cases, the result will be available after 7 to 10 calendar days counting from the receipt of the blood sample in our laboratory. However, the report only states the result for chromosomes 13, 18 and 21, unless an additional abnormality was found that is important for your own or your baby's health. NIPT analysis always involves a genome-wide analysis. Numerical abnormalities of the sex chromosomes (such as Turner syndrome or Klinefelter syndrome).Monogenic (single gene) disorders (such as cystic fibrosis or fragile X syndrome).Small chromosome abnormalities (microdeletions or microduplications), except for the few specific microdeletion syndromes mentioned above.Mosaic trisomy 21, 18 or 13 (not all the cells have a trisomy).Please note that NIPT is currently not able to detect all cases of these rare incidental chromosome abnormalities. In either one of these cases, one of our centers’ clinical geneticists will inform you and your physician accordingly and offer you the necessary multidisciplinary care. Specific small chromosome abnormalities in the baby, like.A chromosome abnormality in the mother that is important for her own health or for that of her baby.A trisomy of a chromosome other than 13, 18 or 21.Therefore, in rare cases, NIPT can also reveal other chromosomal abnormalities, for example: Using NIPT, all chromosomes are analyzed. For other specific genetic disorders, an alternative type of genetic testing may be more appropriate. The NIPT also determines the sex of the baby.Īre you considering NIPT for other reasons? You should first discuss this with your physician. From the 12th week of pregnancy, a blood sample from the mother is used to determine the risk of the following diseases in the baby: ![]()
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