Prenatal Ultrasonographic Molar Tooth Sign: Case Reports and Review of Literature
We report two cases in which MTS was identified on prenatal ultrasound at 22 and 21 weeks (wk) of gestational age respectively. The other prenatal findings on ultrasound included polydactyly and anteropo steriorly enlarged 4th ventricle and vermian hypoplasia in both, and, aortic stenosis evolving to hypoplastic left heart in the former. Prenatal MRI was not done. Amniocentesis was done in the one with associated cardiac anomaly which was reported as normal. In both cases, the couple opted for term ination of pregnancy and declined fetal autopsy and further mutation analysis. Only a few cases of JSRD diagnosed on prenatal ultrasound, have been reported. Due to the autosomal recessive inheritance (with 25% recurrence) JSRD has to be differentiated from Dandy-Walker malformation and cranio-cer ebello-cardiac syndrome. As definitive prenatal genetic testing may not be conclusive in Joubert syndrome (JBTS) due to the large number of pathogenic variants and genetic heterogenicity, the ability to identify the MTS sonographically early provides a valuable adjunct to prenatal diagnosis.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
More News: Amniocentesis | Aortic Stenosis | Brain | Cardiology | Genetics | Heart | Joubert Syndrome | Neurology | Perinatology & Neonatology | Pregnancy | Ultrasound