Study: Prenatal Trio Exome Sequencing Clarifies Ultrasound Abnormalities with a Solution Rate of 38%

Prenatal trio exome analysis is a highly sensitive method for clarifying fetal ultrasound abnormalities. The high relevance of this technology for prenatal diagnostics was demonstrated by our study of more than 500 cases. A genetic cause for the abnormal fetal ultrasound could be identified in 38% of all prenatal trio exome analyses.

Even before birth (prenatally), fetal abnormalities can be detected via ultrasound. The clarification of such fetal ultrasound abnormalities using trio exome sequencing is the subject of our latest research. Trio exome sequencing is already used as standard in postnatal diagnostics and is also convincing in prenatal diagnostics with a high diagnostic yield and rapid results:

The results of our comprehensive study demonstrate that trio exome sequencing is an effective method for evaluating fetal abnormalities. In addition, prenatal trio exome findings also provide crucial information for precise counseling of the pregnant couple regarding diagnosis, prognosis, and probability of recurrence for future pregnancies. Therefore, a prenatal trio exome analysis is an essential addition to the existing possibilities of prenatal genetic diagnostics (aneuploidy screening, NIPT, chromosome analysis, microarray diagnostics).

You can find the publication titled “Trio exome sequencing is highly relevant in prenatal diagnostics” here.

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