Bedside estimation of Down syndrome risk from second-trimester ultrasound prenasal thickness.

Objectives: To construct tables for 'bedside' estimation of Down syndrome risk based on maternal age and ultrasound prenasal thickness (PT) measurements.

Methods: Likelihood ratios were calculated using a log Gaussian model of the PT distribution in multiples of the gestational age-specific median (MoM). The model parameters were derived from 80 Down syndrome and 850 unaffected pregnancies scanned at 14-27 weeks; these data had been published previously, in three series, except for 18 Down syndrome and 119 affected pregnancies.

Correlation between nuchal translucency and nuchal skin-fold measurements in Down syndrome and unaffected fetuses.

Objective: To assess whether there is a correlation between nuchal translucency (NT) and nuchal skin-fold (NF) measurements, in Down syndrome and in normal pregnancies.

Methods: Nineteen Down syndrome and 224 normal fetuses underwent ultrasound sequential examinations at 11-13 weeks and 14-28 weeks' gestation. NT was measured at the earlier examination and NF at the later one.

Normal sonographic values of maternal spleen size throughout pregnancy.

This study aims to establish normal range of sonographically measured maternal spleen size throughout pregnancy. Currently, 288 healthy pregnant women between 6 and 42 weeks' gestation underwent ultrasonographic measurements of spleen length and width. The relationships between ultrasound measurements with prepregnancy body mass index (BMI) and gestational age were assessed using the Pearson correlation coefficient.

Diagnosis of conjoined twins before 16 weeks' gestation: the 4-year experience of one medical center.

Background: Descriptions of the rarely occurring condition of conjoined twins are sparse.

Methods: We report a case series of four conjoined twin pregnancies diagnosed up to 16 weeks of gestation. One was in a quadruplet in vitro fertilization intracytoplasmic sperm injection (IVF-ICSI) pregnancy of cryopreserved embryos and the others were spontaneous conceptions.

Pregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news?

Aims: The number of fetuses with an abnormal increased first trimester nuchal translucency (NT), but confirmed normal karyotype and anatomy is relatively small and therefore a challenge for prenatal counseling. Universal guidelines are still needed for a systematic work-up, how to decide on the rewarding cut-off for this policy as well as how to counsel patients with an increased NT but with euploid fetuses. The current review aims to address some of these issues.

All five digits of the hands of fetuses with Down syndrome are short.

Objective: To compare mid-gestation sonographic measurements of all five digits of the hands of fetuses with Down syndrome with those of normal controls.

Methods: Twenty-nine fetuses between 17 and 26 weeks' gestation which had been confirmed by karyotyping to have Down syndrome were included in this prospective study. Each fetus was scanned once and the digits of only one hand were measured.

Comparison between disclosure and non-disclosure approaches for trisomy 21 screening tests.

Background: First-trimester nuchal translucency (NT) and second-trimester triple test (TT) are common screening programmes for trisomy 21. The aim of this study was to compare disclosure and non-disclosure approaches of combining those tests.

Methods: Likelihood ratios of both NT and TT tests, among 508 normal and 23 trisomy 21-affected pregnancies, were used for calculating population-adjusted risks.

[Prenatal Down's syndrome screening at 10-14 weeks gestation using the combined nuchal translucency and maternal serum biochemistry: preliminary results of the first 358 cases].

We report our preliminary experience of prenatal screening for Down's syndrome (DS) using nuchal translucency (NT) measurement combined with the serum biochemistry analysis of Free beta-human chorionic gonadotropin (F beta hCG) and pregnancy associated plasma protein A (PAPP-A) all measurement at 10-14 weeks of gestation. Of the 358 parturient women which enrolled in the study, 9 cases were not included because of fetal anomalies or miscarriages. Thus the study group included 349 singleton pregnancies in which complete prenatal and infant follow-up was available.

[Screening for Down's syndrome at week 10-14 by measuring fetal nuchal translucency thickness].

Increased fetal muchal translucency (NT) thickness at 10-14 weeks of gestation may indicate underlying fetal chromosomal abnormalities, anatomical anomalies and genetic syndromes. Between January 1997 and May 1998, 1400 women 10-14 weeks pregnant underwent sonographic screening for detection of Down's syndrome (DS). Follow-up was complete in 1208 (86%).

Does a 'notched' nuchal translucency indicate Down syndrome fetuses or other adverse pregnancy outcome?

The aim of the present study was to assess the sonographic contour of the increased nuchal translucency (NT) and to correlate this with pregnancy outcome. Fifty sonographic images of fetuses with increased NT [> 95th centile thickness of the normal range for crown-rump length (CRL) between 38 and 84 mm] were retrospectively assessed. In all the cases a complete pregnancy and even infancy follow-up (< 36 months) was available.

Reconstructed measurements produced from ultrasound images using a computerized system.

Objective: The aim of this study was to evaluate the feasibility and accuracy of reconstructed measurements produced from video-printed ultrasound images.

Design: Reproduction of reconstructed measurements using designated software and comparison of the results with regular measurements derived from the same images.

Subjects: Seventy regular sonographic examinations of biparietal diameter (BPD) and nuchal translucency (NT) thickness.

Antenatal sonographic findings of right pulmonary agenesis with ipsilateral microtia: a possible new laterality association.

Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported.

Three-dimensional vaginal sonography in obstetrics and gynaecology.

Great strides have recently been made in obstetrics and gynaecology secondary to the development of high-performance transvaginal ultrasound (TVS) instruments. However, even this advanced technology can provide only two-dimensional (2D) views of three-dimensional (3D) structures. Although an experienced examiner can easily piece together sequential 2D planes for creating a mental 3D image, individual sectional planes cannot be achieved in a 2D image because of various difficulties.

Combined first trimester nuchal translucency and second trimester biochemical screening tests among normal pregnancies.

We prospectively examined whether first trimester nuchal translucency (NT) and second trimester triple test (TT) results are correlated, and determined overlapping and mutual screen-positive rates. Results of NT, TT, amniocentesis and pregnancy outcome were obtained in 508 normal pregnancies. Inter-test correlation was performed by comparing the likelihood ratios (LR).

Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency.

The numbers of fetuses with an abnormal increased first trimester nuchal translucency (NT) but a confirmed normal anatomy and karyotyping is relatively small and therefore a challenge for prenatal counselling. The aim of the current study was to assess the long-term pregnancy outcome and infancy prognosis of 78 fetuses with NT > 95th centile of the normal range for crown-rump length (CRL). The most common abnormalities in this group were aneuploidy, which affected 32 of the fetuses followed by four and three cases which were miscarried or had cardiac defects respectively.

[Pregnancy outcome in fetuses with increased nuchal translucency thickness at 10-14 weeks of pregnancy].

Increased thickness of fetal nuchal translucency (TNT) measured at 10-14 weeks of gestation, may suggest underlying fetal chromosomal defects, structural abnormalities or genetic syndromes. We examined the relationship between increased TNT and pregnancy outcome, especially in fetuses with normal karyotypes. 1400 pregnant women underwent first trimester scanning and screening for chromosomal abnormalities and measurement of fetal TNT.

On-to-on versus on-to-out nuchal translucency measurements.

Objective: To analyze variables affecting the differences between on-to-on and on-to-out methods of nuchal translucency measurement.

Design: Prospective comparison of two methods of caliper placement.

Subjects: A total of 245 women undergoing transabdominal and 37 women undergoing transvaginal nuchal translucency scanning.

Implementation of nuchal translucency image-scoring method during ongoing audit.

Objective: The aim of this study was to evaluate the contribution of an ongoing audit, using the image-scoring method, to the quality of nuchal translucency images and to set the basic standards required from the examiners.

Design: Evaluation of nuchal translucency images, before, during and after the implementation of an ongoing audit, without knowledge of the time period or the examiner.

Subjects: A total of 315 nuchal translucency scans were performed by three examiners.

Comparison of nuchal translucency measurement and mid-gestation serum screening in assisted reproduction versus naturally conceived singleton pregnancies.

It has been reported that second-trimester serum markers may be affected by assisted reproduction leading to a higher false-positive rate. The current study compares 10-14 week nuchal translucency (NT) measurement and early mid-trimester serum screening in pregnancies resulting from assisted reproduction versus naturally conceived pregnancies. 75 pregnant women with a singleton pregnancy achieved by assisted reproduction underwent both 10-14 weeks NT measurement and second-trimester triple test and were followed throughout gestation.

Antenatal screening for Down's syndrome in assisted reproductive pregnancies.

The wide use of assisted conception methods has risen dramatically. The greater proportion of singletons, twins and high order of multiplicity conceived by those methods have already focused the medical community to various obstetric complications. Recently, there have been suggestions that the levels of mid-gestation serum markers, particularly human chorionic gonadotrophin (HCG), might be affected by assisted conception, leading to higher false-positive results.

Comparison of nuchal translucency measurement and second-trimester triple serum screening in twin versus singleton pregnancies.

Maternal serum screening for Down syndrome (DS) in twin pregnancies poses difficulties due to a lack of precise biochemical information about each co-twin. The current study attempts, for the first time, to compare two screening methods: nuchal translucency (NT) measurement and serum screening for DS, in twin pregnancies. 60 women with twin pregnancies (study group) underwent both first-trimester NT scanning and mid-trimester triple-marker serum screening, and were followed throughout their gestation.

The feasibility of nuchal translucency measurement in higher order multiple gestations achieved by assisted reproduction.

Nuchal translucency (NT) measurement for screening chromosomal abnormalities and detecting fetal anomalies is an effective ultrasonographic marker, originally developed for singleton pregnancies. This study sought to evaluate the feasibility of NT measurements in higher order multiple gestations. Pregnant patients who conceived following assisted reproduction and were carrying three or more fetuses were enrolled in the study.