TY  - JOUR
AU  - Daum, Hagit
AU  - Yagel, Simcha
AU  - Shohat, Mordechai
PY  - 2019
DA  - 2019/05/15
TI  - Diagnosis of Fetal Kabuki Syndrome By Exome Sequencing Following Non-Specific Ultrasound Findings
JO  - OBM Genetics
SP  - 077
VL  - 03
IS  - 02
AB  - Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a molecular diagnosis during pregnancy.  We describe a case of multiple non-specific fetal findings with the eventual diagnosis of fetal Kabuki syndrome by exome sequencing (due to a deleterious mutation in KMT2D). This case stresses the importance of fetal exome sequencing when sonographic fetal abnormalities are visualized, without any specific candidate diagnosis. The multi-organ findings raised the index of suspicion; exome sequencing was performed following the normal CMA. Most Kabuki syndrome patients have a recognizable facial dysmorphism that generally cannot be observed prenatally.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1902077
DO  - 10.21926/obm.genet.1902077
ID  - Daum2019
ER  -