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The author discusses non-invasive prenatal testing (NIPT) for fetal aneuploidy with the use of maternal plasma DA sequencing. He mentions the study by G. Ashoor and colleagues, published in the January 2013 issue of the journal, which uses their chromosome-selective technique to trisomy 13. He adds that NIPT can replace ultrasound and maternal serum testing as a basic screening test for all pregnancies.

Objective:In 2009, the California Genetic Disease Branch introduced an aneuploidy screening program allowing Medi-Cal (state insured) patients access to state-sponsored first-trimester screening. The objective of this study was to assess the effect of greater access to prenatal screening on available resources at a single center.Study Design:Data of prenatal screening and diagnostic procedures performed 4 months before the introduction of the program were compared with those of 12 months following the introduction.Result:Between December 2008 and March 2010, 7689 women underwent first trimester screening, 1286 underwent amniocentesis and 398 underwent chorionic villus sampling. When a comparison was made between the 4 months before and the 12 months after the program's introduction, a greater number of nuchal translucency (NT) examinations was seen to have been performed (384 per month vs 513 per month, P=0.001). Prenatal diagnostic procedures did not increase, but a greater proportion was performed for positive screen results.Conclusion:Introduction of the California screening program was associated with increased NT procedures and fewer invasive procedures for advanced maternal age. [ABSTRACT FROM AUTHOR]

The author discusses the diagnosis of spina bifida at the 11-13-week scan by assessing intracranial translucency and the posterior brain region. He examines the rationale for using the mid-sagittal and axial plane for the examination of the posterior brain in early screening for aneuploidies. In addition, he concludes that screening for such an uncommon condition can only be achieved with a simple sign which can be visualized without excessive additional effort.

Background and aims: The obstetric care of a pregnancy, as it is practiced today, includes non-invasive screening approaches as well as invasive procedures for the definitive prenatal diagnosis of fetal disorders correlations between indications for prenatal cytogenetic diagnosis and results of the chromosomal analysis made upon fetal cells. The aim of our study was to evaluate the correlations between the screening test results and results of chromosomal analysis on fetal cells. Methods: Amniotic fluid samples from 1159 pregnant women were studied with the rapid FISH method and the cytogenetic analysis (karyotype). The results from both methods were compared. Results: The indications to perform prenatal cytogenetic diagnosis for numerical chromosomal abnormalities were: abnormal results of double or triple test, advanced maternal age, fetal abnormality detected through ultrasound examination, and positive family history for chromosomal anomalies. In our study we identified 30 cases with abnormal numeric chromosomes (18 cases of trisomy 21, 4 cases of trisomy 18, 3 cases of trisomy X, 1 case of monosomy, 2 cases of trisomy XYY, 1 case of trisomy XXY and 1 case of triploidy). Conclusions: This report confirms the importance of screening and the cytogenetic diagnosis in the identification of the numerical chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

One of the ongoing challenges for the accurate diagnosis and treatment of children with fetal alcohol spectrum disorders (FASD) is the difficulty of confirming whether a mother drank during her pregnancy. Commonly used screening questionnaires often are unreliable, and current established biomarkers of alcohol consumption are not sensitive enough for use with many pregnant women. These limitations underscore the critical need to develop novel biomarkers with greater sensitivity for detecting moderate levels of drinking during pregnancy for longer periods of time after the last drinking episode. In addition, developing reliable biomarkers of fetal alcohol effects that can identify children at risk for adverse neurobehavioral outcomes could lead to behavioral interventions earlier in development. The use of animal models of FASD in biomarker development could accelerate progress in this challenging field of research. [ABSTRACT FROM AUTHOR]

The spectrum of hemolytic disease of the newborn has changed over the last few decades. With the implementation of Rhesus D immunoprophylaxis, hemolytic disease due to ABO incompatibility and other alloantibodies has now emerged as major causes of this condition. Though in developing countries, anti D is still a common antibody in pregnant women, many Asian countries have identified alloantibodies other than anti D as a cause of moderate-severe hemolytic disease. The most concerned fact is that, some of these have been described in Rh D positive women. It appears that universal antenatal screening in all pregnant women needs to be initiated, since Rh D positive women are just as likely as D negative women to form alloantibodies. Many developed nations have national screening programs for pregnant women. This is necessary to ensure timely availability of antigen negative blood and reduce effects on the newborn. Although universal screening seems justified, the cost and infrastructure required would be immense. Developing countries and under resourced nations need to consider universal antenatal screening and frame guidelines accordingly. [ABSTRACT FROM AUTHOR]

Gestational diabetes mellitus (GDM) is defined as any degree of glucose intolerance with onset or first recognition during pregnancy. Women with GDM and their offspring have an increased risk of developing type 2 diabetes mellitus in the future. The global incidence of GDM is difficult to estimate, due to lack of uniform diagnostic criteria. Various diagnostic criteria have been proposed. The benefit of treating GDM has also been controversial. The clinical significance of treating maternal hyperglycemia was made evident in the Hyperglycemia and Adverse Pregnancy Outcomes (HAPO) study. The HAPO study demonstrated that there is a continuous association of maternal glucose levels with adverse pregnancy outcomes and served as the basis for a new set of diagnostic criteria, proposed in 2010 by the International Association of Diabetes and Pregnancy Groups (IADPSG). According to these criteria the diagnosis of GDM is made if there is at least one abnormal value (≥92, 180 and 153 mg/dl for fasting, one-hour and two-hour plasma glucose concentration respectively), after a 75 g oral glucose tolerance test (OGTT). [ABSTRACT FROM AUTHOR]

Objective Our aim was to clarify and categorize information and decision support needs of pregnant women deciding about amniocentesis. Background Prenatal screening for Down’s syndrome (implemented in routine practice) generates a quantifiable risk of chromosome abnormality. To increase certainty, chromosomal material needs to be obtained through amniocentesis or other diagnostic test. Amniocentesis carries risks of pregnancy loss. Methods Semi-structured interviews were conducted with health professionals and pregnant women who had considered amniocentesis. The data were qualitatively analysed using a two-step thematic content analysis. Results A sample of 17 health professionals and 17 pregnant women were interviewed. Professionals demonstrated little consensus regarding the miscarriage rate, the potential consequences of amniocentesis testing and the uncertainty associated with the tests. Furthermore, methods employed to communicate risks varied between professionals. Pregnant women reported heightened stress and anxiety. Twelve out of 17 women described the decision as complex and difficult to make while five participants were satisfied with the information and support provided. Women would have liked more information about the risks involved, the results, the consequences of an amniocentesis and associated emotional difficulties. Women highlighted the need for personalized information, presented in multiple ways, while remaining simple and unbiased. Conclusions There is variation in the provision of information related to amniocentesis testing. The majority of pregnant women reported difficulties making a decision and identified dimensions of information and decision support where improvements were needed. [ABSTRACT FROM AUTHOR]

Objectives A mixture model of crown-rump length (CRL)-dependent and CRL-independent nuchal translucency (NT) measurements has been proposed for antenatal screening for Down's syndrome. We here compare the efficacy of the mixture model method with the standard method, which uses NT multiple of the median (MoM) values in a single distribution. Settings A routine antenatal screening programme for Down's syndrome comprising 104 affected and 22,284 unaffected pregnancies. Methods The ability of NT to distinguish between affected and unaffected pregnancies was compared using the mixture model method and the standard MoM method by using published distribution parameters for the mixture model of NT and parameters derived from these for the standard MoM method. The accuracy of the two methods was compared for NT and maternal age by comparing the median estimated risk with the prevalence of Down's syndrome in different categories of estimated risk. Results Using NT alone observed estimates of discrimination using the two methods are similar; at a 70% detection rate the false-positive rates were 12% using the mixture model method and 10% using the MoM method. Risk estimation was marginally (but not statistically significantly) more accurate using the standard MoM method. Conclusions The mixture model method offers no advantage over the standard MoM method in antenatal screening for Down's syndrome, is more complicated and less generalizable to other data-sets. The standard MoM method remains the method of choice. [ABSTRACT FROM AUTHOR]

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 22,640 unaffected pregnancies. Methods NT measurements were converted into multiple of the median (MoM) values and standard deviations of log10 MoM values were calculated in affected and unaffected pregnancies. The screening performance of the Combined and Integrated tests (that include NT measurement) were compared using previous and revised estimates of the standard deviation. Results The standard deviation of NT in unaffected pregnancies has reduced over time (from 1998 to 2008) (e.g. from 0.1329 to 0.1105 [log10 MoM] at 12-13 completed weeks of pregnancy, reducing the variance by about 30%). This was not observed in affected pregnancies. Compared with results from the serum, urine and ultrasound screening study (SURUSS), use of the revised NT standard deviations in unaffected pregnancies resulted in an approximate 20% decrease in the false-positive rate for a given detection rate; for example, from 2.1% to 1.7% (a 19% reduction) at a 90% detection rate using the Integrated test with first trimester markers measured at 11 completed weeks' gestation and from 4.4% to 3.5% (a 20% reduction) at an 85% detection rate using the Combined test at 11 completed weeks. Conclusions The standard deviation of NT has declined over time and using the revised estimates improves the screening performance of tests that incorporate an NT measurement. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: The present study aims to investigate the presence of common submicroscopic chromosomal rearrangements in fetuses with ultrasound abnormalities or positive screening in the first trimester and normal karyotype. We used the multiplex ligation-dependent probe amplification (MLPA) technique with subtelomeric (SALSA P036B) and microdeletion syndrome (SALSA P064B/P096) probe mixes as a screening method to measure copy number changes on the tested probes in chorionic villus sampling. MLPA with P036B and P064/P096 probe mixes was performed on 49 chorionic villi DNA samples obtained between the 11th and 13th week of gestation. Results: The MLPA analyses did not detect any diminished or increased intensity for all the tested probes in the samples. Conclusions: Our results suggest that the common submicroscopic “genomic disorders” (microdeletion and microduplication syndromes) would not be frequently detected in the first trimester anomalies screening. [Copyright &y& Elsevier]

AIMS: To describe the experience of the Toxoplasmosis Laboratory of Infectious Disease Department University of Pavia, IRCCS Foundation, San Matteo Polyclinic Pavia, a reference laboratory for diagnosis of toxoplasmosis, in the investigation of women with suspected acute toxoplasmosis. METHODS: All sera were tested with LIAISON® Toxo IgM and IgG II, Toxo IgG Avidity II kits (DiaSorin, Saluggia, Italy), VIDAS Toxo IgG II and Toxo IgG Avidity (bioMérieux, Marcy l'Etoile, France ), IgM ISAGA (bioMérieux, Marcy l'Etoile, France) and ETI-TOXOK-A reverse PLUS (DiaSorin, Saluggia, Italy). When required (IgG negative/IgM positive women), IgG/IgM Western Blot II (LDBio, Lyon, France) was also performed. Prenatal diagnosis on amniotic fluid was done by nested PCR. All newborns were followed up to one year of age in order to exclude or confirm the diagnosis of congenital toxoplasmosis. All pregnant women with acute or undetermined stages of infection were treated. RESULTS: In the course of 2007, 236 women with suspected acute (IgM-positive) Toxoplasma infection were followed up. In the reference laboratory, 91 women had test results indicating acute toxoplasmosis, and 10 had undetermined status of infection. These 101 patients represented 42.8% of the 236 women referred. Acute toxoplasmosis could be excluded in the remaining 135 patients, of whom 53 were non-immune. Three infected newborns were observed, all from mothers tested for the first time during the third trimester of pregnancy. CONCLUSIONS: The role of a reference laboratory in suspected toxoplasmosis acquired during pregnancy is crucial to date the infection and discriminate between seroconversion and false positive anti-Toxoplasma IgM antibodies. This avoids unnecessary anxiety in immune women, provides correct counseling about primary prevention and periodic testing for seronegative ones, and allows early treatment and follow-up of pregnant women with acute infection and their newborns. [ABSTRACT FROM AUTHOR]

Objectives To assess the value of ductus venosus blood flow (expressed as pulsatility index, DVPI) in antenatal Down's syndrome screening when used with the Combined and Integrated tests. Methods DVPI measurements between 10 and 13 weeks' gestation in 66 Down's syndrome and 7184 unaffected pregnancies were collected from women attending the Hospital Clinic, Barcelona, for antenatal care from 1999 to 2007 and combined with the Serum Urine and Ultrasound Screening Study (SURUSS) data to model screening performance, safety and costeffectiveness of the screening tests with and without DVPI. Results The median DVPI multiple of the normal median in Down's syndrome pregnancies was 1.55 (95% CI 1.36-1.73). As a single screening marker without using maternal age, DVPI has a 62% detection rate for a 5% false-positive rate. At a 90% detection rate (first trimester measurements at 11 weeks' gestation) the addition of DVPI reduced the false-positive rate of the Combined test from 8.5% to 4.6% and the Integrated test from 2.0% to 1.1%, with a corresponding reduction in fetal losses from diagnostic procedures. There was no material loss of cost-effectiveness. Conclusion Addition of DVPI measurements to the Combined and Integrated tests substantially improves the efficacy and safety of antenatal Down's syndrome screening. [ABSTRACT FROM AUTHOR]

The article presents a prospective study that combines maternal age, fetal nuchal translucency (NT) and maternal serum freeβ-human chorionic gonadotropin (β-hCG) , and pregnancy-associated plasma protein-A (PAPP-A) in screening for trisomy 21. It presents the characteristics of 19, 614 pregnancies with normal delivery and 122 cases of trisomy 21, which comprise the study population. It reveals that the capability of the combine method to detect 90% for trisomy 21.

A national carrier screening program targeted at communities in which severe genetic diseases are present with a frequency higher than 1/1000 live births, has been in existence in Israel since 2002. Within the communities at risk, carrier screening is voluntary whereas genetic counseling and testing is provided free of charge. During the first 5 years of the program more than 13 000 tests were performed, and at the end of 2007 it was offered in 35 different localities/communities for a total of 36 diseases. Many of the couples identified to be at risk opted for prenatal diagnosis and in two cases an affected pregnancy was terminated. In some cases the couples declined prenatal diagnosis and two of those families gave birth to an affected child. Based on the experience learnt from this targeted screening program it appears that a knowledge-based, voluntary screening program operated within the community is an effective way to provide genetic services and test referrals. The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level.European Journal of Human Genetics (2009) 17, 591–597; doi:10.1038/ejhg.2008.241; published online 24 December 2008 [ABSTRACT FROM AUTHOR]

To evaluate the efficacy of non-invasive prenatal screening (NIPT) for detecting fetal sex chromosome abnormalities, a total of 639 women carrying sex chromosome abnormalities were selected from 222,107 pregnant women who participated in free NIPT from April 2018 to December 2020. The clinical data, prenatal diagnosis results, and follow-up pregnancy outcomes of participants were collected. The positive predictive value (PPV) was used to analyze the performance of NIPT. Around 235 cases were confirmed with sex chromosome abnormalities, including 229 cases with sex chromosome aneuploidy (45, X (n = 37), 47, XXX (n = 37), 47, XXY (n = 110), 47, XYY (n = 42)) and 6 cases with structural abnormalities. The total incidence rate was 0.11% (235/222,107). The PPV of NIPT was 45.37% (235/518). NIPT accuracy for detecting sex chromosome polysomes was higher than that for sex chromosome monomers. The termination of pregnancy rate for fetal diagnosis of 45, X, and 47, XXY was higher than that of 47, XXX, and 47, XYY. The detection rate of fetal sex chromosome abnormalities was higher in 2018–2020 than in 2010–2012 (χ2 = 69.708, P < 2.2 × 10−16), indicating that NIPT is greatly efficient to detect fetal sex chromosome abnormalities. [ABSTRACT FROM AUTHOR]

The article offers tips for selecting laboratory for Cell-free DNA (cfDNA) testing. Suggestions include looking for a laboratory that have publicly available validation data and significant existing experience; clear description of test methodology; and availability of laboratories screening for trisomy 21, trisomy 18 and trisomy 13. It also mentions two different methods of cfDNA testing including massively parallel shotgun sequencing (MPSS) and chromosome-selective sequence analysis. [ABSTRACT FROM AUTHOR]

Congenital heart diseases (CHD) are the most common congenital anomalies, and most cases occur in the low-risk population. The majority of babies with congenital heart disease are born to mothers with no identifiable high-risk factors and so will not be detected unless there is widespread screening of the low-risk population. Congenital heart disease is eight times more common than trisomy 21 and four times more common than neural tube defects, the two conditions for which universal screening programs are in place. But, most of the countries in Europe do not perform routine fetal cardiac screening. Staff performing routine obstetric ultrasound scans should learn a simple technique for examining the fetal heart and to use this in all patients. The aim of this review is to discuss the diagnostic efficacy of the first-trimester and second trimester fetal cardiac screening as a routine measure in an unselected 'low-risk' population. [ABSTRACT FROM AUTHOR]

Objectives Antenatal screening for Down's syndrome relies on the use of multiple markers in combination. Markers that are highly correlated can cause statistical instability. We used the maximum variance inflation factor (VIFmax) to determine whether a screening test using multiple markers was robust to imprecision in the estimation of the marker distribution parameters. Methods The VIFmax for a specified screening test was calculated from the correlations between markers in Down's syndrome pregnancies for six tests: integrated and serum integrated tests without repeat measurements, both tests with repeat measurements across trimesters analysed in the standard way, and both tests with repeat measurements analysed as cross-trimester (CT) marker ratios. The screening performance of each test using published parameter values, in terms of the false-negative rates for a 3% false-positive rate (FN3), were calculated for simulated populations with medians 0.2 standard deviations (SD) higher or lower than the published values (to reflect imprecision in parameter estimation) for pregnancy-associated plasma protein A and unconjugated oestriol in affected pregnancies. For each test, the VIFmax value was compared with the coefficient of variation of the FN3 (FN3 CV). An independent set of 27 Down's syndrome pregnancies was used to determine how many had meaningless low risks (,1 in 10,000) with each test. Results Tests with VIFmax values greater than 5 had FN3CV values over 50%, but those with VIFmax values less than 5 had FN3 CV values less than 21%. The numbers of Down's syndrome pregnancies with meaningless low risk estimates in the independent set were 18 (64%) in tests with VIFmax values ≥5 and none for those with values >5. Conclusion VIFmax values of 5 or more suggest instability. The tests using CT marker ratios were stable (VIFmax < 3), but the tests using repeat measurements in the standard manner were not (VIFmax > 5). [ABSTRACT FROM AUTHOR]

The lipid storage diseases are a family of inherited disorders that result from the deficiency of a specific enzyme activity and the accumulation of complex lipid substrates in the lysosome, resulting in physiologic and morphologic alterations that lead to characteristic clinical manifestations. The molecular bases of the lipid storage diseases have been characterized, including the delineation of the underlying specific gene defects, which has led to improved diagnosis, prenatal diagnosis and carrier identification. This review will focus on advances in the delineation of the genetic basis of Gaucher, Fabry and NiemannPick diseases and the current status of treatment for these disorders. Newborn screening strategies for the lipid storage diseases, focusing on Krabbe disease as a prototype, and future strategies for treatment, such as substrate reduction, chaperone and gene therapy approaches, will also be discussed. [ABSTRACT FROM AUTHOR]

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Objective: To investigate the relationship between maternal serum screening markers and pregnancy outcome in fetuses with cystic hygroma at 15–18 weeks of gestation. Study design: We retrospectively reviewed case-notes of 34 consecutive singleton fetuses with cystic hygroma referred at 15–18 weeks of gestation. All cases had maternal blood sampled for triple screening at the time of the ultrasound scan. Results In total, 62% of fetuses with cystic hygroma had abnormal chromosome complements and 80% had a poor outcome. Six fetuses presenting normal values of human chorionic gonadotropin (0.5–2.5 MoM [multiples of the median]), serum alpha-fetoprotein (0.5–2.5 MoM) and unconjugated estriol (>0.5 MoM), normal karyotype and absence of associated structural anomalies had an uneventful outcome. Conclusions Our data demonstrated that cystic hygroma at 15–18 weeks has a strong association with chromosomal abnormalities. In euploid fetuses, maternal serum screening results may have a role in the diagnostic work-up of the pregnancy. [ABSTRACT FROM AUTHOR]

Objectives: It is widely thought that correlations between screening markers will tend to degrade screening performance. We performed a computer simulation study to investigate the quantitative effect of correlations between two markers on screening performance, using prenatal screening for Down's syndrome as an example, although the results apply generally. Methods: Monte Carlo simulation was used to generate values of two hypothetical markers, A and B, in 1000 affected and 1000 unaffected pregnancies. The means, standard deviations and correlations of A and B were varied in five different examples. Results: If markers A and B are, on average, higher in affected than unaffected pregnancies and each marker, individually, has the same detection rate for a given false-positive rate (i.e. the same screening performance), then the screening performance of A and B together tends to decrease as A and B become more positively correlated with each other (within affected or unaffected categories) and tends to increase as A and B become more negatively correlated. If A is, on average, higher in affected pregnancies and B is, on average, lower in affected pregnancies (but again each marker has the same screening performance), the opposite pattern is observed; screening performance increases as A and B become more positively correlated and screening performance decreases as they become more negatively correlated. If A and B have unequal screening performances, modest correlations between A and B have little effect on the screening performance of A and B together, but when the correlations are strong whether positive or negative (with r values greater than about 0.45 or less than -0.45) screening performance progressively increases. Conclusion: Correlations between screening markers considered separately in affected and unaffected pregnancies can either decrease or increase screening performance. In practice, these effects are usually modest, because most screening markers are not highly correlated with each other and the effects become important only with strong correlations, whether positive or negative. [ABSTRACT FROM AUTHOR]

Objectives: To determine the prevalence of pregnancies with a neural tube defect (NTD) in England and Wales between 1964 and 2004 and to estimate the relative impact of antenatal screening and a change in the incidence of these defects on the prevalence of births with NTDs. Settings: Use of data published by the Office for National Statistics (ONS) on terminations of pregnancies with an NTD and births with an NTD from 1964 to 2004. Methods: Estimates were made of the total number of terminations of pregnancies and births with an NTD by taking account of the under-reporting of these terminations and births using a previously described method. In 1995 ONS started to report the number of terminations with an NTD rather than the total numbers of terminations with a central nervous system (CNS) malformation that had previously been used to estimate the number of NTD terminations. Adjustment was made for this and new estimates of the total number of NTD pregnancies were produced to 2004. Results: There were an estimated 969 pregnancies with NTDs (168 (17%) births and 801(83%) terminations) in England and Wales in 2004. An estimated 44% of NTD terminations and 32% of births were not reported as such. The birth prevalence per 1000 decreased fallen 93% from 3.6 in 1964 to 0.3 in 2004, 59% due to an underlying decrease in the prevalence of NTDs and 34% due to screening diagnosis and subsequent termination of affected pregnancies. Conclusion: The prevalence of NTD pregnancies decreased by around two per 1000 from 1964 to 1990 and thereafter remained fairly constant. The prevalence of NTD pregnancies is substantially underestimated if it is based only on reported NTD births (by 88%) and also if it is based on reported NTD births and terminations (by 52%), because most NTD pregnancies in England and Wales are terminated following antenatal screening and most of these terminations are not reported. [ABSTRACT FROM AUTHOR]

Objectives Ultrasound-based screening is widely employed for the detection of congenital malformations in utero including congenital heart disease (CHD), but there is widespread variability in the efficacy of screening programs. We aimed to evaluate current antenatal detection rates of selected congenital heart defects in Victoria. Methods Data were collected from the Victorian Perinatal Data Collection Unit and Birth Defects Registry. There were 631 209 births in Victoria (1993-2002), of which 4897 cases had CHD. Cases included live births, still-births and termination of pregnancies because of CHD. We reviewed all cases from 1999 to 2002 with atrioventricular septal defect, simple coarctation of the aorta, double-inlet or -outlet ventricle, hypo plastic left heart syndrome, simple transposition of the great arteries (TGA), tetralogy of Fallot and truncus arteriosus. Outcome measures were antenatal diagnosis, pregnancy outcome and associated malformations. Results The overall birth prevalence of CHD from 1993 to 2002 in Victoria was 7.8/1000. The antenatal detection rate for the seven selected defects from 1999 to 2002 was 52.8%. All but 4.8% of the cases had an ultrasound examination at > 13 weeks' gestation. Antenatal detection was highest for hypo plastic left heart syndrome (84.6%) and lowest for simple TGA (17.0%). Conclusions This study shows wide variation in the antenatal detection rate of CHD in Victoria. The low antenatal detection rate of TGA, a defect that should be detected easily, demonstrates suboptimal routine obstetric anomaly scanning. [ABSTRACT FROM AUTHOR]

Objective: To validate empirically the accuracy of antenatal Down's syndrome screening using the Integrated test, to compare this with other screening tests (including the Integrated test with the addition of cross trimester [CT] marker ratios) and to suggest how such validation analyses should be presented and interpreted. Methods: Using data from 7809 unaffected and 27 Down's syndrome pregnancies that had had an Integrated test, risk estimates for various screening tests (maternal age, Double, Triple, Quadruple, Combined, Integrated and serum Integrated tests) that use Integrated test markers were categorized according to quintile categories of risk estimates of the 27 affected pregnancies. For each screening test, the median risk estimate for each category was plotted against the observed prevalence within each category. Such validation plots were also produced for the Integrated test with CT marker ratios by measuring the level of the serum markers in the trimester of pregnancy not already measured in stored samples of all affected and a one-in-five sample of unaffected pregnancies. The robustness of the method was assessed by repeating the analysis for the Integrated test after re-classifying affected pregnancies with low risk estimates as unaffected, simulating the underascertainment of cases. Results: The validation plots (i) confirmed the accuracy of risk estimation for the different tests (by how close the points lay to the line of identity between predicted risk and observed prevalence), (ii) demonstrated the differences in screening performance of the different tests (by the range of risk spanned by the points and, in particular, the separation between the points representing the lowest risk and the next point), and (iii) are robust to underascertainment of affected pregnancies (by having little influence on the closeness of the points to the line of identity). Conclusion: The validation plot is a useful, simple and robust way to assess the validity of new screening methods, to assess the accuracy of risk estimation and to audit the performance of screening programmes. [ABSTRACT FROM AUTHOR]

In the developing world, laboratory services for sexually transmitted infections (STIs) are either not available, or where limited services are available, patients may not be able to pay for or physically access those services. Despite the existence of national policy for antenatal screening to prevent congenital syphilis and substantial evidence that antenatal screening is cost-effective, implementation of syphilis screening programmes remains unacceptably low because of lack of screening tools that can be used in primary health care settings. The World Health Organization Sexually Transmitted Diseases Diagnostics Initiative (SDI) has developed the ASSURED criteria as a benchmark to decide if tests address disease control needs: Affordable, Sensitive, Specific, User-friendly, Rapid and robust, Equipment-free and Deliverable to end-users. Rapid syphilis tests that can be used with whole blood approach the ASSURED criteria and can now be deployed in areas where no previous screening has been possible. Although rapid tests for chlamydia and gonorrhoea lack sensitivity, more tests are in development. The way forward for STI diagnostics requires a continuing quest for ASSURED tests, the development of a road map for test introduction, sustainable programmes for quality assurance, and the creation of a robust infrastructure linked to HIV prevention that ensures sustainability of STI control efforts that includes viral STIs. [ABSTRACT FROM AUTHOR]

Objectives: A study found screening (with rapid plasma reagin (RPR)) pregnant women for maternal syphilis was cost-effective in Mwanza, Tanzania. Recently, four rapid point-of-care (POC) syphilis tests were evaluated in Mwanza, and found to have reasonable sensitivity/specificity. This analysis estimates the relative cost-effectiveness of using these POC tests in the Mwanza syphilis screening intervention.Methods: Empirical cost and epidemiological data were used to model the potential benefit of using POC tests instead of RPR. Reductions in costs relating to training, supplies, and equipment were estimated, and any changes in impact due to test sensitivity were included. Additional modelling explored how the results vary with prevalence of past infection, misclassified RPR results, and if not all women return for treatment.Results: The cost-effectiveness of using POC tests is mainly dependent on their cost and sensitivity for high titre active syphilis (HTAS). Savings due to reductions in training and equipment are small. Current POC tests may save more disability-adjusted life years (DALYs) than the RPR test in Mwanza, but the test cost needs to be <0.63 US dollars to be as cost-effective as RPR. However, the cost-effectiveness of the RPR test worsens by 15% if its HTAS sensitivity had been 75% instead of 86%, and by 25-65% if 20-40% of women had not returned for treatment. In such settings, POC tests could improve cost-effectiveness. Lastly, the cost-effectiveness of POC tests is affected little by the prevalence of syphilis, false RPR-positives, and past infections.Discussion: Although the price of most POC tests needs to be reduced to make them as cost-effective as RPR, their simplicity and limited requirements for electricity/equipment suggest their use could improve the coverage of antenatal syphilis screening in developing countries. [ABSTRACT FROM AUTHOR]

Objective Congenital heart diseases (CHD) are the most common congenital anomalies, and most cases occur in the low-risk population. Prenatal ultrasound screening based on combination of the four-chamber view has had disappointing results in detecting these anomalies thus far. The aim of this study was to evaluate the diagnostic accuracy of ultrasound screening based on the combination of the four-chamber and outflow-tract views. Methods We conducted a multicenter prospective observational study in 15 obstetric units in the Piedmont Region, Italy. All operators received specific training. Data were recorded regarding visualization of the four-chamber view and the outflow tracts at each routine scan in pregnancies without any risk factor. When an anomaly was suspected, the patient was sent to the referral center. We obtained the follow-up data of the newborns until discharge from hospital and calculated the diagnostic accuracy of the test. Results 9074 ultrasound scans were performed on 7041 women and complete follow-tip information was available for 6368 of them. Fifty-eight cases of CHD were observed at birth or postmortem (prevalence 9.10⁄00); 38 of them were diagnosed in utero. The sensitivity of the test was 65.5%, the specificity 99.7%, the positive predictive value 70.4% and the negative predictive value 99.7%. The sensitivity of the four-chamber view alone was 60.3%. Conclusions The sensitivity was significantly higher than that in a similar study performed in 1997 in the same setting. This improvement can be attributed in part to extension of the examination to the outflow-tract view, but also to technological developments and better training of the operators. [ABSTRACT FROM AUTHOR]

Objective To assess the effects of sociodemographic and health-provider factors of women's understanding of abnormal results on measurement of nuchal translucency (NT) and maternal serum screening (MSS), 18 months after the implementation of a policy aimed at increasing women's awareness regarding MSS. Methods A representative sample of women (n = 734) who gave birth in Parisian maternity units in 1999 were asked about their understanding o fan abnormal result on MSS and NT. We assessed the effects of sociodemographic and health-provider factors on the probability, of women interpreting an abnormal result correctly, misinterpreting it as a definitive diagnosis, or declaring that they did not know how to interpret the result. Response rate was 92 % and the analyses included multinomial models. Results For both MSS and NT measurement, the majority of women interpreted an abnormal result correctly. However, there were substantial sociodemographic differences in the probability of women interpreting an abnormal result correctly, and more so in the probability of their declaring not to know how to interpret the result. The probability of correct interpretations was substantially higher, and that of declaring not to know how to interpret the result substantially lower, for MSS than NT measurement. However, for several sociodemographic groups, the proportion of women who misinterpreted an abnormal result on screening as indicative of a definitive diagnosis was also higher for MSS as compared with NT measurement. Conclusions These findings underscore the need for additional efforts, along with alternative strategies, to inform women about the implications of prenatal screening, particularly in the case of measurement of NT. [ABSTRACT FROM AUTHOR]

Background A policy for routine antenatal HIV testing was introduced in England in 1999, with uptake targets for 2000 and 2002; similar policies were subsequently introduced throughout the UK. [ABSTRACT FROM PUBLISHER]

Objective: To analyze the most relevant anomalies, seen in a sequential segmental transverse views approach to imaging the fetal heart, that provide clues to the diagnosis of complete transposition of the great arteries (TGA). Methods: We reviewed retrospectively all the cases of isolated TGA diagnosed in our center or submitted for a second opinion through the spatio-temporal image correlation (STIC) telemedicine (TELE-STIC) program. Only transverse cardiac sweeps were obtained. Digital video clips and STIC volumes were reviewed. The abnormal features on four-chamber, five-chamber, three-vessel (3V) and three vessels and trachea (3VT) views were analyzed. Results: The study population consisted of eight fetuses with TGA with normal extracardiac anatomy. The gestational age ranged from 13 to 32 (mean, 23) weeks. The maternal age ranged from 25 to 42 (mean, 32) years. A normal four-chamber view was seen in seven cases. Only one case demonstrated a significant ventricular septal defect. At the level of the five-chamber view a straight course arterial vessel arose from the left ventricle with lateral branches in all fetuses. In the 3V view, the ascending aorta was seen reaching more anteriorly than was the pulmonary artery in six cases. At the level of the 3VT view, two vessels (transverse aortic arch and superior vena cava) rather than three were seen in all cases. Conclusion: Our proposed sequential segmental approach to imaging the fetal heart apparently allows, in five-chamber and 3VT views, clear and confident signs to be detected that aid diagnosis of TGA. [ABSTRACT FROM AUTHOR]

Objectives: To determine whether training and experience in performing ultrasound examinations are factors that influence the prenatal detection of congenital heart defects (CHDs) in a non-selected population, in order to evaluate and improve the current training program. Methods: All pregnant women who received a routine second-trimester ultrasound scan by a sonographer/midwife and delivered at our hospital between February 1991 and December 2001 were registered prospectively. Less experienced sonographer/midwives who had performed between 200 and 2000 routine examinations were compared with experienced sonographer/midwives who had carried out more than 2000 examinations. During the first 5 years of the study the heart structures obtained were registered in detail. Results: Of 29,035 fetuses, 35/82 (43%) major CHDs were prenatally detected at the routine examination. The experienced sonographer/midwives obtained both the four-chamber view and the great arteries in 75%; the figure for the less experienced sonographer/midwives was 36% (P < 0.001). The differences in detecting major heart defects were 22/42 (52%) and 13/40 (32.5%), isolated CHDs 8/18 (44%) and 6/22 (27%) and CHDs with associated malformations 14/24 (58%) and 7/18 (39%), respectively. In both groups some CHDs with an abnormal four-chamber view were missed, although the experienced sonographer/midwives recognized significantly more of the abnormal views than did the less experienced sonographer/midwives (P = 0.002). Conclusions: Experience has a significant impact on the examination of the fetal heart and the prenatal detection rate of major CHDs. To avoid a relatively long learning curve, ultrasound education needs to intensify the teaching of the basic four-chamber view. The great arteries should be included after additional training. Those basic views of the fetal heart must be mastered before new views and advanced technology are added to the fetal heart examination. [ABSTRACT FROM AUTHOR]

Objective To determine the performance of nuchal translucency thickness (NT) measurement as a screening method for congenital heart defects (CHD) among fetuses with normal karyotype. Methods An NT measurement was made in 16383 consecutive euploid fetuses derived from an unselected pregnant population. The cut-offs for increased risk of heart defects, chosen a priori and tested prospectively, were: NT ⩾ 95th centile for crown-rump length, NT ⩾ 3 mm, and NT ⩾ 3.5 mm. The sensitivity and false-positive rate (FPR; 1 minus specificity) of the risk cut-offs and their positive and negative likelihood ratios (+ LR and -LR) with regard to CHD were calculated. Results Among the 16 383 fetuses with an NT measurement there were 127 cases with a diagnosis of heart defect confirmed by cardiac investigations after birth or at autopsy. Of these, 55 defects were defined as major, of which 52 were isolated (no other defects or chromosomal aberrations), corresponding to a prevalence of major heart defects in chromosomally normal fetuses/newborns of 3.3/1000. The sensitivity, FPR, + LR and - LR for NT ⩾ 95th centile with regard to an isolated major heart defect were: 13.5%, 2.6%, 5.2 and 0.9, respectively. For NT ⩾ 3.0 mm these values were: 9.6%, 0.8%, 12.0 and 0.9, and for NT ⩾ 3.5 mm they were: 5.8%, 0.3%, 19.3 and 0.9. Conclusions NT measurement is a poor screening method for isolated major CHD. A method with a much higher detection rate and with a reasonably low FPR is needed. However, increased NT indicates increased risk of fetal heart defect, and women carrying fetuses with increased NT should be offered fetal echocardiography in the second trimester. [ABSTRACT FROM AUTHOR]

The article measures the coverage of antenatal syphilis screening in Ulaanbaatar, Mongolia. It identifies the factors related to women not being screened. The article shows that the coverage of antenatal syphilis screening is still low, with poor contact tracing. It suggests that more efforts are needed to promote early antenatal care visit and improve syphilis screening systems.

Objectives To compare levels of anxiety and depression during pregnancy and puerperium between women who are offered nuchal translucency (NT) screening routinely and those who are not, and to compare levels between women accepting and those declining screening. Methods In 12 midwife practices in three different health districts an experimental NT screening program was offered to pregnant women between 1 June 1999 and 1 January 2001. As part of this implementation study, questionnaires including the Hospital Anxiety and Depression Scale (HADS) were completed: after the patient was informed but before screening (T1), at 20 weeks of gestation (T2), and 6 weeks after delivery (T3). A control group of women receiving routine prenatal care (i.e. no screening offered) also completed the HADS questionnaire at 12 and 20 weeks and after delivery. Results Five hundred and twenty-seven questionnaires were analyzed. There was a screening uptake of 87% in the intervention group (i.e. those offered screening). Women in this group differed significantly in the percentage of previous miscarriages and religious background compared with the control group. We adjusted for these differences in the analysis. There were no significant differences in HADS scores between the intervention and the control groups at T1, suggesting that women receiving information on screening were not more anxious compared with women who were not informed. Women who were offered screening (acceptors as well as decliners) had significantly lower HADS levels at 20 weeks and after delivery. There were no demographic differences between women accepting and those declining screening. Conclusion Informing women and offering them NT screening for Down syndrome does not increase anxiety or depression levels in pregnancy. In fact, women undergoing or declining screening seem less anxious compared with those who are not offered screening. It is possible that informing women and offering them the chance to decide autonomously whether to participate in screening reduces anxiety levels. [ABSTRACT FROM AUTHOR]

Objective: To determine the accuracy of prenatal and postnatal echocardiography in delineating the degree of cardiac fusion, intracardiac anatomy (ICA), and ventricular function of 23 sets of conjoined twins with thoracic level fusion presenting to a single centre over a 20 year period. Methods: 13 thoracopagus, 5 thoraco-omphalopagus, and 5 parapagus pairs presenting to the authors' institution between 1985 and 2004 inclusive were assessed. Echocardiographic data were analysed together with operative intervention and outcome. Twins were classified according to the degree of cardiac fusion: separate hearts and pericardium (group A, n = 5), separate hearts and common pericardium (group B, n = 7), fused atria and separate ventricles (group C, n = 2), and fused atria and ventricles (group D, n = 9). Results: The degree of cardiac fusion was correctly diagnosed in all but one set. ICA was correctly diagnosed in all cases, although the antenatal diagnosis was revised postnatally in three cases. Abnormal ICA was found in one twin only in two group A pairs, one group B pair, and both group C pairs. All group D twins had abnormal anatomy. Ventricular function was good in all twins scanned prenatally, and postnatally function correlated well with clinical condition. Thirteen sets of twins in groups A–C were surgically separated; 16 of 26 survived. None from groups C or D survived. Conclusions: Prenatal and postnatal echocardiography accurately delineates cardiac fusion, ICA, and ventricular function in the majority of twins with thoracic level fusion. It is integral in assessing feasibility of separation. The outcome in twins with fused hearts remains dismal. [ABSTRACT FROM AUTHOR]

Background: Intimate partner violence (IPV) has consistently been found to afflict one in twenty pregnant women and is therefore considered a leading cause of physical injury, mental illness and adverse pregnancy outcome. A general antenatal screening policy has been advocated, though compliance with such guidelines tends to be low. We therefore attempted to identify potential barriers to IPV screening in a context where no guidelines have been instigated yet. Methods: Questionnaire-based Knowledge, Attitude, and Practice survey among obstetrician-gynaecologists in Flanders, Belgium (n = 478). Results: The response rate was 52.1% (249/478). Gynaecologists prove rather unfamiliar with IPV and therefore largely underestimate the extent of the problem. Merely 6.8% (17/249) of the respondents ever received or pursued any kind of education on IPV. Accordingly they do feel insufficiently skilled to deal with IPV, yet sufficiently capable of recognizing IPV among their patients. Survey participants largely refute the incentive of universal screening in favour of opportunistic screening and do not consider pregnancy as a window of opportunity for routine screening. They do consider screening for IPV as an issue of medical liability and therefore do not suffer from a lack of motivation to screen. In addition, obstetrician-gynaecologists do believe that screening for IPV may be an effective means to counteract abusive behaviours. Yet, their outcome expectancy is weighed down by their perceived lack of self-efficacy in dealing with IPV, by lack of familiarity with referral procedures and by their perceived lack of available referral services. Major external or patient-related barriers to IPV screening included a perceived lack of time and fear of offending or insulting patients. Overall, merely 8.4 % (21/245) of gynaecologists in this survey performed some kind of IPV questioning on a regular basis. Finally, physician education was found to be the strongest predictor of a positive attitude towards screening and of current screening practices. Conclusion: Endorsement of physician training on IPV is an important first step towards successful implementation of screening guidelines for IPV. Additional introduction of enabling and reinforcement strategies such as screening tools, patient leaflets, formal referral pathways, and physician feedback may further enhance compliance with screening recommendations and guidelines. [ABSTRACT FROM AUTHOR]

Objectives To synthesise data from four recent studies in Tanzania examining maternal syphilis screening and its operational implementation in routine antenatal clinics (ANC), drawing lessons for strengthened antenatal services for the prevention of mother-to-child transmission (PMTCT) of HIV. Methods The impact of untreated maternal syphilis was examined in a retrospective cohort of 380 Tanzanian women. Effectiveness and cost-effectiveness of screening and single dose benzathine penicillin treatment were prospectively examined in 1688 pregnant women. Observation, interviews and facility audits were carried out in health facilities within nine districts to determine the operational reality of syphilis screening. Results Overall, 49% of women with untreated high titre syphilis experienced an adverse pregnancy outcome compared with 11% of uninfected women. Stillbirth and low birthweight rates among those treated for high- or low-titre syphilis were reduced to rates similar to those for uninfected women. The economic cost was $1.44 per woman screened and $10.56 per disability-adjusted life year saved. In the operational study, only 43% of 2256 ANC attenders observed were screened and only 61% of seroreactive women and 37% of their partners were treated. Adequate training, continuity of supplies, supervision and quality control are critical elements for strengthened antenatal services, but are frequently overlooked. Conclusions Maternal syphilis has a severe impact on pregnancy outcome. Same-day screening and treatment strategies are clinically effective and highly cost-effective, but there are significant challenges to implementing syphilis screening programmes in sub-Saharan Africa. Current PMTCT interventions present an opportunity to reinforce and improve syphilis screening. Increasing PMTCT coverage will involve similar operational challenges to those faced by syphilis screening programmes. [ABSTRACT FROM AUTHOR]

Studies the cost-effectiveness of alternative HIV screening strategies for incarcerated pregnant women. Effectiveness of antiretroviral therapy (ART) that is initiated on a prenatal basis in HIV-infected pregnant women for preventing mother-to-child HIV transmission; Development of a decision analytic model to project the clinical and economic outcomes of alternative HIV screening strategies that included voluntary prenatal screening, routine prenatal screening and mandatory newborn screening for a high-risk population of incarcerated pregnant women.

Background. The economics of universal antenatal human immunodeficiency virus (HIV) screening should be explored if mother-to-child transmission of HIV occurs, the health-service infrastructure for universal screening exists, and optimal risk-reducing treatments can be supplied. Methods. We evaluated a hypothetical cohort of the antenatal population of Australia during 2001-2002, to examine whether universal antenatal HIV screening is cost-effective in this setting. A quasi-societal perspective was adopted, secondary data sources were used, and sensitivity analyses were undertaken. Costs and benefits incurred in the future were discounted to their present value. Results. The intervention would be cost-effective if the prevalence of undiagnosed HIV in the currently unscreened Australian antenatal population was≥0.004372%.We predict 6.95 new diagnoses of HIV, 1.73 infections avoided, and 46.97 discounted-life-years gained. Applying favorable and unfavorable values for key variables suggests that the prevalence at which the intervention would be cost-effective is 0.0016%-0.0106%. Conclusions. Universal antenatal HIV screening would be cost-effective at a very low prevalence and would generate net benefits under many scenarios; accurate statistics on the true prevalence of HIV in the currently unscreened antenatal population are required. [ABSTRACT FROM AUTHOR]

Background: The development of suppressive therapy and type specific tests for herpes infections allow for screening to reduce the risk of neonatal herpes.Objectives: To assess the potential effectiveness, cost effectiveness, and benefit of suppressive therapy among herpes simplex virus serodiscordant sex partners during pregnancy.Methods: Decision and economic analyses are used to compare the incidence and costs of neonatal herpes in California (2000) for three interventions: (1) no management; (2) current guidelines (caesarean delivery for women with lesions); (3) screening for women at risk and use of suppressive treatment in sex partners.Results: Screening and suppressive therapy are the most effective interventions, while current guidelines have limited effectiveness, but the latter provide the most cost effective results.Conclusions: While current guidelines are cost saving, they forgo a potential 82% decrease in neonatal herpes incidence that would be possible with screening and suppressive therapy if society were willing to pay the necessary US$363 000 per case prevented. To evaluate HSV screening and drug therapy completely, clinical trials and an economic assessment of infant mortality "value" to society are required. [ABSTRACT FROM AUTHOR]

Discusses the practice of prenatal testing among general practitioners. Medical aims of prenatal ultrasound screening; Likelihood of giving birth to a child with Down's syndrome; Development of a screening test called '11-14 week scan'; Test characteristics of nuchal translucency screening.

Objective To develop a measure of informed choice. Conceptualization and measurement The measure is based on the following definition of an informed choice: one that is based on relevant knowledge, consistent with the decision-maker’s values and behaviourally implemented. The measure comprises an eight-item scale of knowledge, a four-item scale assessing attitudes towards undergoing the screening test and a record of test uptake. Participants Sixty-six women awaiting their first antenatal clinic appointments. Measure development In women offered a screening test in pregnancy, the internal reliability of both the knowledge and the attitude scales was acceptable (alpha coefficients 0.82 and 0.83, respectively). Of the 42 women completing both scales, 18 were classified as having made an informed choice, and 24 were classified as having made an uninformed choice. Conclusion The results of this preliminary study provide some evidence to support the feasibility of conceptualizing and measuring informed choices regarding screening using a brief measure assessing knowledge and attitudes. The validity and utility of this approach awaits further studies, involving larger numbers of participants, offered different screening tests. [ABSTRACT FROM AUTHOR]

The author reflects on the importance of medical screening of cystic fibrosis on newborn infants. She said that neonatal screenings were done for affected families but ignored the importance of antenatal screening which is more effective in avoiding the birth of an affected child. However, she added that newborn screening poses scientific uncertainty to whether it can improve the survival of cystic fibrosis patients.

Presents a study that evaluated the cost effectiveness of voluntary prenatal and routine post natal HIV screening in pregnant women and newborns in the U.S. Health benefits of early identification oh HIV; Estimation of the probability of vertical HIV transmission with and without antiretroviral therapy and with and without breastfeeding; Annual costs and savings of enhanced prenatal screening and routine newborn screening.

The authors examined the impact of universal screening on the diagnosis of gestational diabetes and its complications. All mothers and newborns registered by the Canadian Institute for Health Information from 1984 to 1996 (even-numbered fiscal years only) were included in the analysis. Over this time period, the proportion of women with gestational diabetes increased ninefold (from 0.3% to 2.7%) while the proportion with prepregnancy diabetes fell from 0.7% to 0.4%. As rates of gestational diabetes increased, a corresponding reduction in the risks of complications (polyhydramnios, amniotic cavity infection, cesarean delivery, and preeclampsia) occurred for women with gestational diabetes. The incidence of gestational diabetes fell in Metro-Hamilton (where screening was discontinued in 1989) but remained high in the rest of Ontario (where screening continued in most areas). No related temporal trends for fetal macrosomia, cesarean delivery, or other diabetes-related complications were observed, regardless of screening policy. The authors concluded that the substantial increase in gestational diabetes in Canada is an artifact caused by universal screening, with no evidence of beneficial effects on pregnancy outcomes. [ABSTRACT FROM PUBLISHER]

Objectives To assess the impact of current serum α fetoprotein (AFP) assays on the performance of screening for open neural tube defects and Down's syndrome. Methods Maternal serum samples, collected between weeks 15 and 22 from 470 singleton pregnancies without neural tube defects or Down's syndrome, were assayed for AFP using an automated fluorometric immunoassay. The samples had been assayed for AFP using an in house radioimmunoassay with a lower precision ten years before. The variance of AFP using the radioimmunoassay was compared with that using the current fluorometric assay and then used to estimate the detection rates and false positive rates for neural tube defect and Down's syndrome screening. Results Current serum AFP assays are more precise. Using a cut off level of 2.5 multiples of the median, the false positive rate in screening for anencephaly and open spina bifida was 0.8% with the new assay compared with 2% using the previous assay. When screening for Down's syndrome, the false positive rate is reduced by about one percentage point without loss of detection. Conclusion Improvements in the precision of maternal serum AFP measurement have led to small but useful improvements in screening for open neural tube defects and Down's syndrome. Published estimates of screening performance using such modern assays can be revised accordingly. [ABSTRACT FROM AUTHOR]

A systematic review of recent economic evaluations of antenatal screening was conducted. Relevant studies were identified from a number of sources including computerised databases, bibliographies of economic evaluations, and searches of unpublished manuscripts. Each study identified by the literature searches was categorised on the basis of its title and abstract. Studies considered relevant to the systematic review were obtained from libraries. The methodology, results, and policy implications of studies categorised as economic evaluations upon full review were documented.A total of 566 studies were identified by the literature searches, 41 of which were categorised as economic evaluations upon full review. The economic evaluations covered a range of antenatal screening practices, aimed mainly at the prevention of infectious diseases and fetal anomalies. The review highlighted the poor methodological quality of the bulk of economic evaluations of antenatal screening. The study design, data collection methods, and analysis and interpretation of results frequently violated methodological guidelines adopted by health economists. The review also highlighted the narrow definition of benefits adopted by this body of literature, with most studies reporting outcomes in terms of cases detected, cases of particular disorders prevented or, most often, costs averted.The conclusions arrived at differed by area of antenatal screening. There appeared to be clear economic arguments in favour of some forms of antenatal screening, for example, triple test screening for Down's syndrome. Other economic evaluations pertained to specific locations, which suggests that the results may not necessarily be generalisable to different settings. For all areas of antenatal screening, an updating of published economic evaluations may be required to account for evolving economic, epidemiological, and clinical effectiveness evidence. [ABSTRACT FROM AUTHOR]

Objectives: To assess the impact of a syphilis control programme of pregnant women on pregnancy outcome in Kenya.Method: Women who came to deliver to Pumwani Maternity Hospital (PMH) between April 1997 and March 1998 were tested for syphilis. Reactive rapid plasma reagin (RPR) tests were titrated and confirmed with treponema haemagglutination test (TPHA). Equal numbers of RPR and TPHA negative women were enrolled. Antenatal syphilis screening and treatment history were examined from the antenatal cards.Results: Of 22,466 women giving birth, 12,414 (55%) were tested for syphilis. Out of these, 377 (3%) were RPR reactive of whom 296 were confirmed by TPHA. Syphilis sero-reactive women had a more risky sexual behaviour and coexistent HIV antibody positivity; 26% were HIV seropositive compared with 11% among syphilis negative mothers. The incidence of adverse obstetric outcome defined as low birth weight and stillbirth, was 9.5%. Syphilis seropositive women had a higher risk for adverse obstetric outcome (OR 4.1, 95% CI 2.4-7.2). Antenatal treatment of RPR reactive women significantly improved pregnancy outcome but the risk of adverse outcome remained 2.5-fold higher than the risk observed in uninfected mothers.Conclusions: These data confirm the adverse effect of syphilis on pregnancy outcome. This study also shows the efficacy of antenatal testing and prompt treatment of RPR reactive mothers on pregnancy outcome. [ABSTRACT FROM AUTHOR]