Enlarged Intracranial Translucency, as a Potential Marker for Diagnosis of Joubert Syndrome during First-Trimester Screening: A Case Report

First-trimester screening for Dandy-Walker syndrome using intracranial translucency

Methods During a 3-year period from 2012 and 2015, consecutive women undergoing first-trimester screening for aneuploidy were routine examined for the presence of the IT in the sagittal plane of the fetal head by one FMF-accredited MFM specialist. The anterior-posterior diameter was measured and normative data were generated. Fetuses with increased IT were further studied with serial scans and ...

Intracranial translucency as a sonographic marker of open spina bifida at first trimester

Spina bifida is the one of the most common severe congenital abnormality of the central nervous system. Scalloping of the frontal bones called “the lemon sign” and caudal displacement of the cerebellum called “the banana sign” are known as cranial signs of open spina bifida on ultrasonography at the second trimester. Although these signs are useful methods in diagnosing of open spina bifida in ...

Nuchal translucency measurement in first trimester Down syndrome screening.

(1) Approximately three in every four fetuses with Down syndrome have increased nuchal translucency (NT), which is a larger than normal build-up of fluid at the back of the neck. (2) The ultrasound measurement of NT between 11 and 14 weeks' gestation, in combination with the mother's age and the levels of placental biochemical markers in her blood, can be used to detect approximately 84% of fet...

Nuchal translucency and first trimester biochemical markers for Down syndrome screening: a cost-effectiveness analysis

Nuchal translucency and first trimester biochemical markers for Down syndrome screening: a cost-effectiveness analysis