Syndromes related to increased Nuchal Translucency of fetus
Asper Biotech provides additional prenatal testing for fetus with increased nuchal translucency (NT) but normal karyotype. The test makes it possible to give the best possible advice to patients who are at risk because of hereditary factors and to make relevant decisions in family planning.
The ultrasound finding of increased nuchal translucency from weeks 11 to 14 of gestation is most commonly associated with chromosomal abnormalities, such as trisomy 21, trisomy 18 or 13, Turner syndrome (45,X), triploidy, and other chromosomal defects. However, even in the absence of chromosomal abnormalities, increased nuchal translucency has been associated with an increased risk for adverse pregnancy outcome, including fetal abnormalities and genetic syndromes.
APEX (arrayed primer extension) based genetic test enables to determine 251 genetic changes in 8 genes that are known to be associated with more prevalent hereditary syndromes.
The genetic test of syndromes associated with increased nuchal translucency (NT) of the fetus allows examination of the most common genetic changes that cause hereditary syndromes like congenital adrenal insufficiency (21-hydroxylase insufficiency), Noonan syndrome, Smith-Lemli-Opitz syndrome (SLOS) and spinal muscular atrophy.
The indication for genetic testing is fetal NT increase (measurement 3 mm and more) during weeks 11-14 of gestation. Before genetic testing it is recommended to exclude fetal aneuploidy. The test is available with diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
The sample material for testing is DNA separated from fetal chorionic cells or amniocytes. The amount of DNA required for the test is 4,5 µg. Recommended DNA concentration is 100-250 ng/µl. Analysis results are available in 2-3 weeks.
In order to exclude maternal DNA contamination fragmentation analysis will be performed. The sample material of fragmentation analysis is 2-4ml whole blood with EDTA anticoagulant or genomic DNA.
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Syndromes related to increased Nuchal Translucency of fetus – read more
For further information:
Genetic assessment following increased nuchal translucency and normal karyotype
Pergament E, Alamillo C, Sak K, Fiddler M.
Prenat Diagn. 2011 Mar;31(3):307-10. doi: 10.1002/pd.2718. Epub 2011 Feb 15.
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