George Makrydimas

Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis

OBJECTIVE The purpose of this study was to evaluate the screening performance of increased first-trimester nuchal translucency for the detection of major congenital heart defects. STUDY DESIGN A meta-analysis based on MEDLINE and EMBASE searches (up to June 2002) that assessed the diagnostic performance of increased nuchal translucency for congenital heart defect detection. Weighted sensitivity and specificity estimates (random effects) and summary receiver-operating characteristic curves were obtained. RESULTS Eight independent studies with 58,492 pregnant women were analyzed. There was significant heterogeneity among the studies. Nuchal translucency above the 99th percentile had a sensitivity of 31% and specificity of 98.7% (random effects calculations), with a positive likelihood ratio of 24. Summary receiver-operating characteristic estimates were consistent with these values. The ability of nuchal translucency measurements above this threshold to detect cardiac malformations varied nonsignificantly (P=.64) for different congenital heart defects types (sensitivity range, 25%-55%). CONCLUSION Nuchal translucency screening is a modestly efficient strategy for congenital heart defect detection; the use of the 99th percentile threshold may capture approximately 30% of congenital heart defects.

Expectant, medical, or surgical management of first-trimester miscarriage: a meta-analysis.

OBJECTIVE: To quantify the relative benefits and harms of different management options for first-trimester miscarriage. DATA SOURCES: MEDLINE, EMBASE, and Cochrane Controlled Trials Register searches (1966 to July 2004), including references of retrieved articles. METHODS OF STUDY SELECTION: Randomized trials assigning women with first-trimester missed or incomplete miscarriage to surgical, medical, or expectant management were included. Primary outcomes were successful treatment and patient satisfaction. Secondary outcomes included moderate or severe bleeding, blood transfusion, emergency curettage, pelvic inflammatory disease, nausea, vomiting, and diarrhea. Comparisons used the risk difference. Between-study heterogeneity and random effects summary estimates were calculated. TABULATION, INTEGRATION, AND RESULTS: Complete evacuation of the uterus was significantly more common with surgical than medical management (risk difference 32.8%, number needed to treat 3, success rate of medical management 62%) and with medical than expectant management (risk difference 49.7%, number needed to treat 2). Success rate with expectant management was spuriously low (39%) in the latter comparison. Analysis of cases with incomplete miscarriage only showed that medical management still had two thirds the chance to induce complete evacuation compared with surgical management, but it was better than expectant management. Data from studies that evaluated outcome at 48 hours or more after allocation indicated again that medical management had a better success rate than expectant management but a worse success rate than surgical management; expectant management probably had much lower success rates than surgical evacuation, but data were very sparse. Patient satisfaction data were sparse. Moderate or severe bleeding was less common with medical than expectant management (risk difference 3.2%) and possibly surgical management (risk difference 2.1%). There was a considerable amount of missing information, in particular for secondary outcomes. CONCLUSION: One additional success can be achieved among 3 women treated surgically rather than medically. Expectant management has had remarkably variable success rates across these studies, depending probably on the type of miscarriage. Greater standardization of outcomes should be a goal of future research.

Transvaginal cervical length measurement for prediction of preterm birth in women with threatened preterm labor: a meta-analysis

To integrate data on the performance of cervical length measurement for the prediction of preterm birth in symptomatic women.

Diagnostic performance of intracardiac echogenic foci for Down syndrome: a meta-analysis.

OBJECTIVE To synthesize the accumulated data on the diagnostic performance of intracardiac echogenic foci for Down syndrome, a meta-analysis was performed. DATA SOURCES We conducted MEDLINE and EMBASE searches (1985 to August 2002) using the key words “intracardiac (echogenic) focus/foci,” “golfballs,” “trisomy 21,” and “Down syndrome.” Bibliographies of retrieved articles were also screened, and experts were contacted. METHODS OF STUDY SELECTION Both single and multiple intracardiac echogenic foci qualified, regardless of cardiac location. Eligible studies included and described both chromosomally normal and abnormal fetuses; the fetal karyotype was unknown at the time of sonographic examination; and chromosomal status was confirmed by karyotype or postnatal clinical examination. TABULATION, INTEGRATION, AND RESULTS Sensitivity and specificity were recorded for intracardiac echogenic foci in a “combined” setting (regardless of the presence of other sonographic markers) and “isolated” setting (in the absence of other markers). Weighted estimates and summary receiver operating characteristic curves were calculated. Across 11 studies (51,831 pregnancies, 333 Down syndrome cases), random effects sensitivity and specificity were 26% (95% confidence interval 19, 34) and 95.8% (95% confidence interval 92.2, 97.8), respectively, with a positive likelihood ratio of 6.2 (“combined” setting, likelihood ratio 7.0; “isolated” setting, likelihood ratio 5.4). Summary receiver operating characteristic curves were also consistent with these values. With a 0.8% risk of amniocentesis-induced fetal loss, one fetus is lost per Down case detected when the background Down risk is 1:770. CONCLUSION Intracardiac echogenic foci increase the risk of Down syndrome five- to seven-fold. This information should be considered in the decision making for amniocentesis in conjunction with the womans background risk

Interaction between the polymorphisms of the renin-angiotensin system in preeclampsia.

Preeclampsia is considered to be a multifactorial and multisystemic disorder with a genetic predisposition. Alterations in the renin-angiotensin system are considered to play a significant role in the pathogenesis of the disease. In order to investigate the possible association of the three most common polymorphisms of the renin-angiotensin system genes with preeclampsia we have examined 41 women with preeclampsia and 102 normotensive pregnant women. DNA samples were genotyped for the M235T polymorphism of the angiotensinogen gene (AGT), the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene (ACE) and the A1166C polymorphism of the angiotensin II type 1 receptor gene (AT1R) by PCR. Allele and genotype frequencies of the AGT gene polymorphism differed between the two study groups. The TT genotype of the M235T polymorphism was significantly increased in women who developed preeclampsia (P<0.02). In addition, women with preeclampsia and TT genotype had more frequently the DD genotype or the 1166C allele than the control group showing a significant interaction between the genes. In conclusion, we found an association between the angiotensinogen variant 235T and preeclampsia as well as an interaction between the variant 235T and the two other genes studied.

Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review

OBJECTIVE To systematically review published data on the neurodevelopment of children that were diagnosed prenatally with isolated agenesis of the corpus callosum. STUDY DESIGN Medline and Scopus searches (1960-July 2011); cross-referencing of retrieved articles. RESULTS Sixteen reports (132 cases of apparently isolated agenesis of the corpus callosum) were included in the analysis. The rates of normal outcome, borderline or moderate disability and severe disability were 94/132 (71.2%; 95% confidence interval [CI], 63.0-78.3), 18/132 (13.6%; 95% CI, 8.8-20.5), and 22/132 (15.2%; 95% CI, 10.0-22.2), respectively. Magnetic resonance imaging detected additional cerebral abnormalities in 22.5% (95% CI, 12.3-37.5) of apparently isolated agenesis of the corpus callosum cases. In truly isolated agenesis of the corpus callosum (confirmed by magnetic resonance imaging), the rates of normal neurodevelopment and severe disability were 52/69 (75.4%; 95% CI, 64.0-84.0) and 8/69 (11.6%; 95% CI, 6.0-21.2), respectively. CONCLUSION Prenatally diagnosed, isolated agenesis of the corpus callosum is usually associated with a favorable outcome. Larger, prospective series are required, as current data are limited, inconsistent, and prevent subgroup analyses (eg, complete vs partial agenesis of the corpus callosum).

Threatened miscarriage: evaluation and management.

Threatened miscarriage—vaginal bleeding before 20 gestational weeks—is the commonest complication in pregnancy, occurring in about a fifth of cases.w1 Miscarriage is 2.6 times as likely,1 and 17% of cases are expected to present complications later in pregnancy.2 Although general practitioners and gynaecologists often see this condition, management of threatened miscarriage is mostly empirical. Bed rest is routinely recommended, and about a third of women presenting with threatened miscarriage are prescribed drugs.w2 However, two thirds of the general practitioners recommending this do not believe it affects outcome.3 In this review, we present available evidence on the initial evaluation and management of threatened miscarriage, focusing mainly on the first trimester of pregnancy and primary healthcare settings. We searched literature in English with Medline (January 1965 to April 2004), Embase (January 1980 to April 2004), and the Cochrane database using the keywords “threatened” and “abortion” or “miscarriage” and “pregnancy” and “first trimester” or “early” and “bleeding”. We scanned abstracts and got the full text of relevant articles. We also scanned the references of retrieved articles. The more recent or randomised, prospective, or large studies focusing on women with symptoms of threatened miscarriage were primarily cited; we excluded studies on recurrent pregnancy loss or women without symptoms, unless otherwise stated. ### Evaluation Bleeding in the first trimester can originate from the uterus, cervix, or vagina, or it can be extragenital. Thorough physical examination is essential to differentiate between genital and extragenital causes. After exclusion of extragenital causes, several parameters have been associated with prognosis (table 1). View this table: Table 1. Prognostic factors in cases of threatened abortion #### History Older women are at increased risk of miscarriage in the general population.w3 A prospective study on women with threatened abortion reported that women older than 34 years had an odds ratio of 2.3 for miscarriage, however, …

Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester

We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency.

Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

To pool published data regarding the sensitivity and specificity of nuchal translucency (NT) in the diagnosis of major congenital heart defects (CHDs) in fetuses with normal karyotype.

First-trimester ductus venosus screening for cardiac defects: a meta-analysis

Please cite this paper as: Papatheodorou S, Evangelou E, Makrydimas G, Ioannidis J. First‐trimester ductus venosus screening for cardiac defects: a meta‐analysis. BJOG 2011;118:1438–1445.