Nuchal translucency and nasal bone for trisomy 21 screening: single center experience.

Aim: To evaluate the feasibility and diagnostic accuracy of fetal nuchal translucency and nasal bone assessment at 11-14 weeks for screening of trisomy 21 at a single center.

Methods: Nuchal translucency measurement and nasal bone evaluation in relation to the fetal karyotype for singleton fetuses were retrospectively assessed at the Ospedale Microcitemico, Cagliari, Italy, in a three-year period (2001-2004). Nuchal translucency was considered enlarged if greater than or equal to the 95th centile for crown-rump length (CRL) of the reference ranges, and nasal bone was described as present or absent during the evaluation of the fetal facial profile.

Nuchal translucency measurement at different crown-rump lengths along the 10- to 14-week period for Down syndrome screening.

Objectives: To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period.

Methods: NT was classified 'enlarged' if greater than or equal to 1.5 and 2.

Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies.

Objectives: The absence of nasal bone (NB) has been noted in trisomy 21 fetuses at first-trimester ultrasound, in high-risk pregnancies. In this study, the nasal bone was evaluated in relation to fetal karyotype, in unselected pregnancies.

Methods: From September 2001 to September 2002, the fetal facial profile was examined at the 11 to 14 weeks' scan for screening by nuchal translucency (NT).

Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses.

Objective: To investigate the dynamic trend of the nuchal translucency thickness between fetuses with normal and abnormal karyotype.

Design: Prospective observational study.

Setting: Ospedale Microcitemico, Cagliari, Italy.

Neural tube defects in the offspring of thalassemia carriers.

Objectives: The risk of neural tube defects (NTDs) is negatively correlated with maternal folate levels in early pregnancy. Thalassemia carriers often have reduced red cell folate contents. The aim of this study was to verify whether thalassemia carriers are at increased risk of having offspring with a NTD.