OBJECTIVE To determine whether the standard deviation of nuchal translucency (NT) measurements has decreased over time and if so to revise the estimate and assess the effect of revising the estimate of the standard deviation on the performance of antenatal screening for Down's syndrome. SETTING Data from a routine antenatal screening programme for Down's syndrome comprising 106 affected and 2...

OBJECTIVE Discordance in nuchal translucency measurements in monochorionic diamniotic twin pregnancies was assessed as predictor of Twin-to-Twin Transfusion Syndrome. STUDY DESIGN A total of 61 monochorionic diamniotic twins were enrolled. Nuchal translucency (NT) and crown-rump-length (CRL) discordance was calculated as the percentage of delta NT and CRL (absolute difference NT/CRL fetus 1 a...

OBJECTIVE To determine if combinations of maternal characteristics and measurements of parameters used in screening for aneuploidies at 11-13 weeks provide significant prediction of macrosomia. METHOD Maternal characteristics, fetal nuchal translucency (NT), free β-human chorionic gonadotrophin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) were recorded at 11(+0)-13(+6) weeks in ...

OBJECTIVE To investigate an approach for the analysis of samples obtained in screening for trisomy 21 that retains the advantages of quantitative fluorescent polymerase chain reaction (qf-PCR) over full karyotyping and maximises the detection of clinically significant abnormalities. DESIGN Observational study. SETTING Tertiary referral centre. SUBJECTS 17,446 pregnancies, from which chori...

The aim of the present study was to evaluate the efficacy of the first trimester screening for Down syndrome (DS) in an unselected low-risk Finnish population. The study involved 4,617 women who attended screening between the 8th and 14th weeks of pregnancy in 1998-2000. They gave a blood sample for the measurement of pregnancy associated plasma protein A (PAPP-A) and free beta human chorionic ...

Objective To assess the ultrasonographic appearance of the jugular lymphatic sacs (JLS) in fi rst-trimester fetuses with a normal nuchal translucency (NT). Methods Seventy-fi ve fetuses with a normal NT thickness (< 95th percentile) were examined weekly between 11 and 17 weeks of gestation. After measurement of the NT thickness, the neck region was examined using both transvaginal and transabdo...

A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf). The ultrasound showed increased nuchal translucency (NT) of 8.9 mm with an estimated risk of Down syndrome of 1:8. Fetal ka...

OBJECTIVE The study aims to determine the performance of a five (5) serum marker plus ultrasound screening protocol for T21, T18 and T13. METHOD Specimens from 331 unaffected, 34 T21, 19 T18 and 8 T13 cases were analyzed for free Beta human chorionic gonadotropin, pregnancy-associated plasma protein A, alpha-fetoprotein, placental growth factor and dimeric inhibin A. Gaussian distributions of...

Turner syndrome is associated with subcutaneous accumulation of fluid in the neck region that can be visualized sonographically from 10-14 weeks of gestation as massively increased nuchal translucency thickness. Possible mechanisms for this increased translucency include dilatation of the jugular lymphatic sacs because of developmental delay in the connection with the venous system, or a primar...

BACKGROUND Previously reported pathological series suggest that cardiac malformations are universal in trisomy 18. We examined our experience of fetal echocardiography in trisomy 18 for comparison. METHODS Of 255 fetuses with trisomy 18 detected in our centre between January 1999 and June 2004, 174 were evaluated using fetal echocardiography. Our results were compared to four previous echocar...