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Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5248
Abstract: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign.
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Keywords:
application noninvasive;
prenatal testing;
testing pregnancies;
bubble sign ... See more keywords
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Published in 2018 at "Archives of Disease in Childhood: Fetal and Neonatal Edition"
DOI: 10.1136/archdischild-2017-313929
Abstract: Background Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test…
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Keywords:
invasive prenatal;
prenatal testing;
testing pregnancies;
non invasive ... See more keywords
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Published in 2022 at "Current Genomics"
DOI: 10.2174/1389202923666220518095758
Abstract: In the decade since non-invasive prenatal testing (NIPT) was first implemented as a prenatal screening tool, it has gained recognition for its sensitivity and specificity in the detection of common aneuploidies. This review mainly focuses…
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Keywords:
following assisted;
prenatal testing;
testing pregnancies;
non invasive ... See more keywords