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Objective: To describe a new first-trimester sonographic landmark the maxillo-occipital line which may be useful for early screening of open spina bifida.Methods: Maxillo-occipital line was prospectively evaluated in 100 low-risk pregnancies at the time of first-trimester sonographic screening examination between 11 and 13 + 6 weeks' gestation. All the pregnant women subsequently had a normal second-trimester scan and normal outcomes. Midsagittal brain images of 14 fetuses with known diagnosis of open spina bifida were evaluated retrospectively to review the maxillo-occipital line.Results: None of the 100 fetuses evaluated prospectively with the maxillo-occipital line below the junction of the midbrain and brain stem were affected by open spina bifida. The aqueduct of Silvius to occiput distance measurement was not obtained in five cases. In all, 14 cases with a diagnosis of open spina bifida, the junction between the midbrain and brain stem, were below the maxilla-occipital line.Conclusion: Maxillo-occipital line is an easy addition to the evaluation of first-trimester screening of open spina bifida. Further studies are needed to determine the false-positive and false-negative rates of this technique. [ABSTRACT FROM AUTHOR]

Objective: We examined whether first trimester aneuploidy and pre-eclampsia screening markers predict gestational diabetes mellitus (GDM) in a large multi-ethnic cohort and the influence of local population characteristics on markers.Methods: Clinical and first trimester markers (mean arterial pressure (MAP), uterine artery pulsatility index (UtA PI), pregnancy associated plasma protein A (PAPP-A), free-β human chorionic gonadotropin (free-hCGβ)) were measured in a case-control study of 980 women (248 with GDM, 732 controls) at 11 to 13 + 6 weeks' gestation. Clinical parameters, MAP-, UtA PI-, PAPP-A-, and free-hCGβ-multiples-of-the-median (MoM) were compared between GDM and controls; stratified by ethnicity, parity, and GDM diagnosis <24 versus ≥24 weeks' gestation. GDM model screening performance was evaluated using AUROC.Results: PAPP-A- and UtA PI-MoM were significantly lower in GDM versus controls (median ((IQR) PAPP-A-MoM 0.81 (0.58-1.20) versus 1.00 (0.70-1.46); UtA PI-MoM 1.01 (0.82-1.21) versus 1.05 (0.84-1.29); p < .05). Previous GDM, family history of diabetes, south/east Asian ethnicity, parity, BMI, MAP, UtA PI, and PAPP-A were significant predictors in multivariate analysis (p < .05). The AUC for a model based on clinical parameters was 0.88 (95%CI 0.85-0.92), increasing to 0.90 (95%CI 0.87-0.92) with first trimester markers combined. The combined model best predicted GDM <24 weeks' gestation (AUC 0.96 (95%CI 0.94-0.98)).Conclusions: Addition of aneuploidy and pre-eclampsia markers is cost-effective and enhances early GDM detection, accurately identifying early GDM, a high-risk cohort requiring early detection, and intervention. Ethnicity and parity modified marker association with GDM, suggesting differences in pathophysiology and vascular risk. [ABSTRACT FROM AUTHOR]

Objective: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age. Methods: A retrospective study was conducted on patients aged ≥35 divided in two groups: patients who requested first trimester combined test and only in case of screen-positive result underwent invasive testing (group A); patients undergoing chorionic villous sampling or amniocentesis as first investigation (group B). The following outcome variables were compared: antenatal detection of trisomy 21, occurrence of trisomy 21 at birth, miscarriage rate, hospitals' costs. Results: 4527 women were included. Of these, 534 (11.80%) underwent T21 screening whereas 3993 (88.20%) requested primary invasive testing. In group A, 64 combined test were positive (11.99%) and 8 trisomy 21 cases were diagnosed (1.50%); the loss of euploid fetuses after invasive procedure was 4.55% (2/44). No false-negative case was observed. In group B 57 cases of trisomy 21 were diagnosed (1.43%), and pregnancy loss rate of chromosomally normal fetuses was 0.45% (17/3806). The estimated cost was, respectively, 67.720€ for the primary screening versus 1.996.500€ for direct prenatal diagnosis. Conclusion: First trimester screening of trisomy 21 is highly accurate and cost saving among women ≥35. [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]