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Objectives. We designed this study to estimate the proportion of fetuses in pregnancies with positive second trimester serum screens for trisomy 18 who actually have trisomy 18, to estimate the proportion of women with trisomy 18 who have a negative serum screen, and to assess the role of ultrasound in the diagnosis of trisomy 18. Methods. Retrospective study of two cohorts of pregnant women in 2004 and 2005: (1) those with a second trimester serum screen positive for trisomy 18 and (2) those with fetuses having trisomy 18. Results. There were 93 women with positive serum screens for trisomy 18. Of these, only three had a fetus with trisomy 18. There were five other cases of trisomy 18, three of which had a negative second trimester serum screen for trisomy 18. All fetuses with trisomy 18 had multiple major structural abnormalities detected on targeted genetic sonography. Conclusions. A positive second trimester serum screen has a poor sensitivity and poor prediction for trisomy 18. Trisomy 18 is highly unlikely if a woman with a positive screen for trisomy 18 has no fetal abnormalities detected on targeted genetic sonography. Women with a positive second trimester serum screen for trisomy 18 should be offered genetic sonography, and the practice of routine amniocentesis for all women with a positive screen should be discouraged when targeted genetic sonography is available. [ABSTRACT FROM AUTHOR]

Objective . The purpose of this study was to determine whether C-reactive protein (CRP) concentrations in vaginal fluid can identify patients with intra-amniotic inflammation/infection (IAI) and predict adverse outcome in preterm premature rupture of membranes (PROM). Methods . The study population consisted of 121 singleton pregnant women with preterm PROM (⩽36 weeks of gestation) who had an amniocentesis and vaginal fluid collection. A Dacron polyester-tipped applicator was soaked with vaginal fluid for 10 seconds and diluted with 1 mL buffer solution. Amniotic fluid was cultured for aerobic and anaerobic bacteria, as well as mycoplasmas. Vaginal fluid CRP and amniotic fluid matrix metalloproteinase-8 (MMP-8) were determined by specific immunoassays. IAI was defined as an amniotic fluid MMP-8 concentration >23 ng/mL and/or a positive amniotic fluid culture. Nonparametric tests and survival techniques were used for statistical analysis. Results . Patients with IAI had a significantly higher median vaginal fluid CRP concentration than those without IAI (median (range), 7.8 (0.1–1310.1) ng/mL vs. 1.0 (0.1–319.4) ng/mL, p 10 ng/mL than in those with a lower concentration (median (range), 82.5 (0–8640) cells/mm 3 vs. 2 (0–>1000) cells/mm 3 , p 10 ng/mL had a significantly shorter sampling-to-delivery interval and higher rates of preterm delivery within five days, funisitis, and histologic chorioamnionitis than did those with a vaginal fluid CRP concentration below this cut-off. A vaginal fluid CRP cut-off of 10 ng/mL had a specificity of 89% and a sensitivity of 45% in the identification of IAI. Conclusion . An elevated CRP concentration in vaginal fluid collected by polyester-tipped applicator is a risk factor for intra-amniotic inflammation/infection and impending preterm delivery in preterm PROM. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the relation between umbilical cord diameter versus pregnancy associated plasma protein-A (PAPP-A) level in first trimester women. Method: Cord diameter were measured and patients were divided into two groups according to frequency distribution analysis as below or above 3.7 mm for free loop diameter (FCD) and below or above 3.4 mm for cord measurement at umbilicus (ACD). Groups were compared with each other. Results: Strong correlations were found between ACD versus PAPP-A. Conclusion: By using strong correlation between ACD versus PAPP-A, it may be possible to reduce unnecessary amniocentesis due to false positive screening results. [ABSTRACT FROM AUTHOR]

Introduction. We report on a prenatally diagnosed de novo small supernumerary marker chromosome (sSMC) derived form chromosome 18. Molecular cytogenetic studies led to information about the clinical relevance of the sSMC-induced chromosomal imbalance. As prenatal ultrasound was normal, detailed information with respect to prenatal counseling of the parents was necessary. In general, detection of an sSMC requires as much information on the exact genetic content with its possible impact on the phenotype as achievable. Material and methods. Amniocentesis was performed in a 37-year-old Gravida IV Para II with a history of an induced abortion due to a prenatally diagnosed trisomy 21. Fluorescence in situ hybridization quick test gave hint on a possible mosaic trisomy 18, whereas the conventional banding cytogenetic analysis revealed an sSMC. The amount of euchromatin was estimated to be less than 5 MB. Conclusions. sSMC are rare, being present in less than 0.08%% of all pregnancies. Going together with an abnormal ultrasound, counseling of the parents is relatively easy to perform. In cases of normal prenatal ultrasound, profound knowledge about the surplus genetic content is necessary for the estimation of the fetal outcome prognosis. In the present case, detailed molecular cytogenetics techniques led the parents to continue the pregnancy. [ABSTRACT FROM AUTHOR]