Fetal structural anomalies are found in up to 3% of all pregnancies following routine prenatal care ultrasound screening (Edwards and Hui, 2017, PMID: 29233624). Making a diagnosis is difficult due to the limited available phenotypic information, but is crucial to gain information about disease prognosis.
The analysis of the fetus and both parents (trio exome diagnostics) hereby allows the most efficient evaluation and increases the chance of identifying disease-causing variants. We have analyzed more than 500 prenatal cases and identified the disease-causing alteration in about 36% of cases (Gabriel et al., ESHG 2020, C01.6 Trio exome/ whole exome sequencing in prenatal diagnosis).
All prenatal analyses are automatically prioritized. Prenatal testing is limited to cases that fulfill certain criteria such as abnormal ultrasound findings or a known familial disease causing variant. Reported variants are limited to pathogenic and likely pathogenic variants associated with the clinical phenotype of the index, according to current scientific understanding.
We advise to contact us directly prior to analysis in order to perform the most suitable approach for genetic testing.
If performing trio exome diagnostics isn’t possible, please include a sample of the biological mother. This is needed in order to exclude maternal cell contamination (MCC). Alternatively, we require a statement that the MCC test has already been performed and the sample isn’t contaminated.