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Biomedical subjects

Z Weinraub

Publications and source records attributed to Z Weinraub.

At least 19 recordsLinked to original sources
PubMed2004

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. Measurements were compared with those of 302 previously reported normal controls matched for gestational age. All measurements were expressed in multiples of the gestation-specific normal median (MoM) for each digit. RESULTS: Compared to 1 MoM for the length of Digits 1 to 5 from the normal population, the respective values in the Down syndrome digits were: 0.94, 0.85, 0.92, 0.88 and 0.85 MoM, representing values significantly lower than normal (P < 0.05; t-test). CONCLUSIONS: All five digits of the hands of fetuses with Down syndrome are shorter than are those of euploid fetuses. Integration of fetal digit measurement into the antenatal assessment of selected high-risk cases may be of value although confirmation of our findings should be obtained before this measurement is incorporated into Down syndrome screening in the general population.

Cross-Sectional Studies↗
PubMed2001

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. We describe the association of dextrocardia in situs solitus, intact diaphragm and right microtia. This was sonographically diagnosed at mid-gestation in an euploid fetus. Surgical evacuation of the pregnancy confirmed the external malformation. Laterality association should be assessed in a fetus with sonographic findings of pulmonary agenesis. The differential diagnosis and updated literature review is presented.

Adult↗
PubMed2001

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. The NT appearances were subdivided into two forms: a 'notched' or 'uniform' appearance. The images were correlated with karyotype results [trisomy 21 (DS) vs euploid cases] and pregnancy outcome. Complicated outcomes were classified as being either DS fetuses, miscarriage or termination of pregnancy because of structural anomaly. Thus 30/35 (86%) of the euploid fetuses had a 'uniformly' increased NT, whereas 8/13 DS cases (62%) had a 'notched' appearance (Fisher's exact test, p = 0.004). Additionally, 27/29 fetuses (93%) which had an uneventful pregnancy outcome had a 'uniform' increased NT, whereas 12/26 (57%) of the fetuses which had adverse pregnancy outcome had a 'notched' appearance of their NT (Fisher's exact test, p < 0.001). Although it was not possible to correlate the sonographic data with post-evacuation microdissection findings, it is possible that a uniformly shaped, increased NT may be more representative of a developmental delay in a normal fetus. Conversely, a 'notched' nuchal surface may represent abnormal lymphatic or cardiovascular development more commonly seen in DS fetuses.

Adult↗
PubMed2001

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. METHODS: The study included 35 conventional-size (BPD) and 35 small-size (NT) measurements. Each image was measured twice during a dynamic ultrasound examination (regular measurements) and twice using a computerized system (reconstructed measurements). The latter comprised three steps: (i) computerization (computer-generated images by scanning); (ii) calibration (using the scale located alongside the image); (iii) measurement (placing the calipers at the desired points). RESULTS: All images were successfully scanned, and the computer-generated images were of sufficient quality for proper measurement. There was no difference between mean values of regular and reconstructed BPD measurements, 63.9 mm (3.7 mm, SE) and 63.6 mm (3.8 mm, SE), respectively. Similarly, mean values of regular NT measurements were similar to the reconstructed ones, 1.48 mm (0.09 mm, SE) and 1.49 mm (0.09 mm, SE), respectively. Repeated regular BPD and NT measurements exhibited repeatability coefficients of 1.6 mm and 0.4 mm, respectively. These values were smaller than those obtained by repeated reconstructed measurements of 2.1 mm and 0.52 mm, respectively. CONCLUSIONS: Reconstructed measurements of ultrasound video-printed images are feasible, require modest facilities and exhibit more than reasonable accuracy. This option may contribute to medical research, audit, quality control and training, as well as to medico-legal issues.

Feasibility Studies↗
PubMed2001

[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. Forty-four pregnant women were found to be screen positive (12.6%) and in 13 cases (27%) of them fetal chromosomal aneuploidies were diagnosed. Looking into the markers profile we found that the NT was a sensitive marker which was abnormally increased in all the fetal aneuploidies. Serum F beta hCG was found to be a promising marker as well, being significantly elevated (2.26 +/- 0.86 multiple of the medians, MoM) in DS cases, and decreased (< 0.5 MoM) in two cases of Edward's syndrome. On the contrary, PAPP-A was found less sensitive, and its mean MoM values were not significantly different between DS versus euploid fetuses. Our preliminary results support the promising success of DS screening using NT and F beta hCG.

Adult↗
PubMed2000

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). Overlapping of screen-positive cases, of NT and TT, was determined by comparing mutual risks for Down syndrome (DS) livebirth of > or = 1:380. Combined screen-positive rates were evaluated by using summation risk (NT and/or TT exhibiting a risk > or = 1:380) and calculated risk (new risk > or / =1:380, based on multiplication of LR(NT) and LR(TT)). Screen-positive rates between NT and TT differed significantly and when either test showed an increased risk for DS, the probability of the other to predict the same was negligible (p<0.001). Overall screen-positive rates, at a risk > or = 1:380, were 2% and 5.7% for NT and TT, respectively. Summation and calculated combining methods were associated with 7.5% and 2.0% screen-positive rates, respectively. Amniocentesis was performed on 20.7% of the cases, mostly screen-negative ones. Our results showed that, in normal pregnancies, NT and TT do not correlate and that their combined calculated risk in normal pregnancies is associated with a low screen-positive rate of 2.0%.

Adult↗
PubMed2000

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. METHODS: Nuchal translucency was measured using both on-to-on and on-to-out methods of caliper placement on the same frozen images. Differences between the methods were evaluated according to fetal size, nuchal thickness and mode of examination. Regression analysis was performed for the calculation of the expected difference between the methods at various combinations. Results among 1254 singleton pregnancies were used to set 50th, 95th and 97.5th centiles for the on-to-on method. The calculated differences were used to set 50th, 95th and 97.5th centiles for the on-to-out method. RESULTS: The mean difference between on-to-out and on-to-on nuchal translucency, using transabdominal scanning, was 0.95 +/- 0.14 mm. The differences were shown to correlate directly with fetal size and with nuchal thickness. In addition, scans performed transvaginally exhibited a smaller difference between the methods (0.90 mm vs. 0.94 mm; P < 0.05). CONCLUSION: The difference between on-to-on and on-to-out nuchal translucency measurements may have a considerable effect on the calculated risk for aneuploidy.

Abdomen↗
PubMed2000

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. The remaining euploid fetuses with normal detailed scans were followed throughout their infancy (mean 24 months; range 12-36 months). Post-natally, except for a correctable case of ventricular septal defect and a case of posterior urethral valve, no other abnormalities were detected. After excluding all aneuploid cases and using the maternal age as a second variable, an uncomplicated pregnancy outcome could be anticipated in 17 cases (100%) when the maternal age was <30 years and NT between 95th centile and 5 mm. However, the chance of a normal outcome dropped to 50% in four cases with maternal age > or =30 years and NT > or =5 mm (Fisher's exact test; P: = 0.02). These findings suggest that the long-term prognosis of the euploid fetuses with large NT (<5 mm) is reassuring in younger women.

Abortion, Spontaneous↗
PubMed1999

[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%). Maternal age ranged from 17-44 years (mean 18.0). 87% were found by screening to have a higher risk (1:380) for DS diagnosed at birth. All these fetuses were karyotyped and 8 had chromosomal abnormalities. 2 fetuses with normal NT were diagnosed later as having DS, 1 by the mid-gestation triple test and 1 by amniocentesis because of advanced maternal age. Thus sonographic screening identified 8 out of 10 fetuses found to have chromosomal abnormalities at birth. Neonates not karyotyped before birth had no traits at birth that justified chromosomal analysis. Results of this study suggest that NT measurement, combined with maternal age, is an effective 1st trimester screening method for DS in an unselected obstetric population.

Adolescent↗
PubMed1999

[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. 25 fetuses (2%) with increased TNT (> 3 mm) were identified. 8 (30%) had an abnormal karyotype. Of these, 5 pregnancies were aborted, 3 ended in spontaneous abortions before karyotyping, and 2 were terminated, all before detailed cardiac scanning. There was a high association between increased TNT and karyotype abnormalities. The total incidence of favorable outcome in fetuses with normal chromosomal and cardiac features but enlarged TNT was 56%.

Abortion, Induced↗
PubMed1999

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. Nuchal translucency measurements were compared with a matched control of 120 singleton pregnancies with a similar (+/-2 years) maternal age and fetal crown-rump length (CRL) (+/-3 mm). In both analyses, a risk of 1:380, or higher, of having a DS newborn was considered screen positive. Both mean maternal age (31+/-3 years) and CRL (62+/-11 mm) were similar in the study and control groups. The median NT measurement expressed as multiples of the median (MOM) for CRL was similar in the study and control groups (0.85 and 0.88, respectively). Based on NT measurements, 5 per cent of the pregnancies in the study group and 2.5 per cent in the control group were defined as screen positive (p =N. S). Mid-gestation serum screening was associated with 15 per cent and 6 per cent screen-positive rate in study and control groups, respectively (p<0. 05). There was a ratio of 1:3 screen-positive rate between first and second-trimester screening tests within the study group. This high false-positive rate results led to 18.3 per cent amniocentesis rate in the study group compared with 7.5 per cent of the control group (p<0.03). Only one co-twin which was picked up by the NT screen was further diagnosed as trisomy 21, and one co-twin with cardiac and neural tube defect was missed by the two screening tests and was later picked up in an anomaly scan. Although the current series is too small to provoke any changes in screening practice, when twin pregnancies are diagnosed, it seems very reasonable to offer them NT measurement. A larger group may be needed to clarify which approach is the most beneficial screening policy for this highly selected group of pregnant women.

Adult↗
PubMed1999

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. METHODS: Each of the retrospective, intermediate and prospective time periods included blind scoring of 105 images. The effect of the ongoing audit was examined by comparing the distribution of the quality groups and the mean final score between the time periods, for all cases and for each examiner separately. Improvement of the criteria was assessed by comparing the rate of scans meeting the demands between the time periods. RESULTS: The quality of the images improved significantly as the mean final score changed from 4.62 +/- 0.21 to 6.19 +/- 0.19 and to 6.91 +/- 0.16 (p < 0.0001) and the rate of obtaining acceptable scans rose from 72% to 88% and to 92% (p < 0.001), respective to the three time periods. Whereas the three major criteria improved significantly before and after implementation of the audit (mid-sagittal section from 48% to 94%, caliper placement from 60% to 75% and skin line from 19% to 77%), the minor criteria remained unchanged (image size 90%, amnion demonstration 25% and head position 77%). The average scores of two examiners, for whom improvement was more pronounced, were used to determine the basic standards required from examiners subjected to the audit as follows: unacceptable, none; intermediate, 5%; reasonable, 65%; excellent, 30%; with a mean final score of 7.25. CONCLUSIONS: Implementation of an ongoing audit, using the image-scoring method, proved to be an efficient method for surveillance and improving the quality of nuchal translucency images. We recommended centers or individuals practicing first-trimester ultrasound screening to consider its routine utilization, in an unbiased and strict manner.

Analysis of Variance↗
PubMed1999

Can nuchal cord cause transient increased nuchal translucency thickness?

When detected in a first trimester scan, an increased thickness of nuchal translucency (NT) may be associated with chromosomal, cardiac or genetic disorders. However, less attention has been devoted to the outcome of those fetuses who have confirmed normal anatomies and karyotyping, but have abnormal first trimester scans. Thus, a challenging new issue is how to counsel such cases of transient increased NT in which the translucency rapidly vanishes with no evidence of other underlying abnormalities. Two cases of transient increased thickness of NT are reported. In both, a nuchal cord was ultrasonographically demonstrated and a thorough work-up revealed chromosomally and anatomically normal fetuses. The pathophysiological theories behind these observations and their significance are discussed. Based on these observations, we suggest that transvaginal sonography combined with Doppler flow studies should be utilized for the presize detection of cord patterns to accomplish the work-up in cases of increased NT.

Adult↗
PubMed1999

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. Each fetus was ultrasonographically assessed, a NT measurement was obtained, and the findings were used for counselling prior to any invasive procedure. In all, 24 pregnant patients, initially carrying 79 fetuses aged 10-14 weeks of gestation, were compared with 79 consecutively matched, singleton controls, naturally conceived, having similar crown-rump lengths (+/- 3 mm). NT measurements were feasible for both study and control fetuses, which exhibited similar NT measurements for 5th, 50th and 95th centiles. Also, mean NT thicknesses [measurements in mm or multiple of the medians (MOM)] were similar for both groups (1.41 +/- 0.41 and 1.35 +/- 0.39 mm respectively and 0.87 +/- 0.23 and 0.83 +/- 0.25 MOM respectively). Prenatally no chromosomal abnormalities were detected in either group, and, of those infants who had no karyotyping, no traits were observed that warranted chromosomal analysis. NT measurements are feasible in higher order multiple gestations. Since there is no other effective screening modality for these pregnancies, it seems reasonable to recommend NT measurement for antenatal screening services for higher order multiple gestations.

Chromosome Aberrations↗
PubMed1999

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. They were compared with matched controls for gestation and maternal ages. A risk of 1:380 or higher or having a fetus with Down syndrome was considered as screen-positive in both tests. The mean maternal age (30+/-3 years) and crown-rump length (61+/-9 mm) were similar, and there was no difference in NT thickness distribution between the groups. Based on NT measurement, 4 (5 per cent) women in the study and 2 (3 per cent) in the control groups, were defined as screen positive (p=NS). However, 11 (15 per cent) women in the study group and 4 (5 per cent) in the control group were found screen-positive by the triple test (p<0.05). A significantly higher amniocentesis rate of 20 per cent was noted in the study group compared with 8 per cent in the controls (p<0.05). All karyotypes were normal and no miscarriages or structural malformation were diagnosed in either group. We confirm the observation that assisted reproduction may adversely affect second-trimester screening results, which did not affect the NT screening test. Since these series are relatively small, larger series may be needed to clarify the most beneficial screening policy for this highly selected group of pregnant women.

Adult↗
PubMed1998

Image magnification does not contribute to the repeatability of caliper placement in measuring nuchal translucency thickness.

The objective of this study was to assess whether nuchal translucency image magnification contributes to the repeatability of caliper placement. Twenty-seven women undergoing first-trimester ultrasound screening at 11-14 weeks were examined by two qualified examiners. Fetal nuchal translucency thickness was measured twice by each examiner on a regular-sized image and subsequently on the same still image magnified. Intraobserver repeatability coefficients of the regular-sized images were 0.28 mm and 0.34 mm for examiners A and B, respectively. Identical intraobserver repeatability coefficients of 0.28 mm were attained for both examiners on the magnified images. Interobserver repeatability of regular-sized image measurements showed a significant difference (p < 0.01) but the mean difference (+/- standard deviation) of 0.10 (0.18) mm was negligible. Similarly, interobserver repeatability of the magnified-image measurements yielded a significant difference (p < 0.02), but again with a small mean difference of 0.13 (0.26) mm. There were also significant differences when regular-sized images and magnified images were compared for both examiners: 0.08 (0.16) mm for examiner A (p < 0.02) and 0.10 (0.17) mm for examiner B (p < 0.01). Our results demonstrate that nuchal translucency image magnification does not contribute to the reproducibility of the measurement. Despite significantly smaller mean values obtained from the magnified images, compared to the regular-sized measurements, those differences do not justify modification of the criteria for caliper placement on magnified images. Blind repeated measurements on a regular-sized and/or magnified image are recommended as a tool for self-assessment, quality control and training.

Female↗