T.M. Helfer

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.

The Importance of IgG Avidity and the Polymerase Chain Reaction in Treating Toxoplasmosis during Pregnancy: Current Knowledge

A brief report on the nature and epidemiology of T. gondii infection is firstly presented. The importance of the specific IgG avidity test and polymerase chain reaction (PCR) for toxoplasmosis is discussed, along with their significance and importance as auxiliary methods for determining the most likely time for the initial infection by this coccidian and for defining the therapeutic strategy. Lastly, practical comments are made in relation to the classical therapeutic regimens, with special attention to the indications for fetal treatment, when this is necessary.

Reference ranges of fetal adrenal gland and fetal zone volumes between 24 and 37 + 6 weeks of gestation by three-dimensional ultrasound

Abstract Objective: To establish reference ranges of the fetal adrenal gland (AG) and fetal zone (FZ) volumes using three-dimensional ultrasound (3DUS). Methods: We performed a prospective cross-sectional study with 204 normal singleton pregnancies between 24 and 37 + 6 weeks of gestation. The fetal AG and FZ volumes were obtained using the virtual organ computer-aided analysis method with a 30° rotation. To establish reference ranges as the function of gestational age (GA), quantile regression was performed with the adjusted coefficient of determination (R2). Intra- and inter-observer repeatability was performed using the intraclass correlation coefficient (ICC). Results: The mean results of fetal AG and FZ values were 0.42 cm3 (0.04–1.22) and 0.10 cm3 (0.02–0.47), respectively. The best-fit quantile regression models for fetal AG and FZ volumes as the function of GA were in first-degree models: AG = −0.937 + 0.041 × GA (R2 = 0.124) and FZ = −0.201 + 0.009 × GA (R2 = 0.127), respectively. We observed good intra-observer repeatability of fetal AG and FZ volumes, with an ICC of 0.996 and 0.989, respectively. We also observed good inter-observer repeatability, with an ICC of 0.972 and 0.966 for AG and FZ, respectively. Conclusion: The reference ranges of AG and FZ volumes using 3DUS between 24 and 37 + 6 weeks of gestation were established and exhibited good repeatability.

Postnatal outcomes of infants with gastroschisis: a 5-year follow-up in a tertiary referral center in Brazil.

Abstract Objective: The aim of this study was to evaluate postnatal outcomes in fetuses with gastroschisis. Methods: This is a retrospective study (2009–2013) of patients with gastroschisis at the Hospital São Paulo (Federal University of São Paulo, Brazil). Results: A total of 44 infants with gastroschisis were examined. The mean maternal age was 21.1 years and mean gestational age at delivery was 36.1 weeks. Delivery occurred before 34 weeks in 13.6%, between 34 and 36 weeks and 6 d in 40.9%, and after 37 weeks in 45.5%. The mean birth weight was 2349 g, with 37.2% small-for-gestational age infants. The mean umbilical cord blood pH was 7.32. Bowel resection and delayed fascial closure was performed in 14.6% and 19.5%, respectively. The mean hospitalization time in the neonatal intensive care unit was 52.7 d. Neonatal infection was detected in 52.4%, with a positive blood culture; 77.3% of those cases were coagulase negative staphylococci. The overall rate of mortality was 25%; 18.2% before birth, 45.4% during the neonatal period, and 36.4% in infants. The main cause of postnatal death was septicemia (55.5%). Conclusions: Despite advances in perinatal care and surgical techniques, infants with gastroschisis still present high rates of complications and death.

Assessment of maternal Doppler parameters of ophthalmic artery in fetuses with growth restriction in the third trimester of pregnancy: A case–control study

The aim of this study was to assess the Doppler parameters of the ophthalmic artery of pregnant women carrying fetuses with growth restriction (FGR) compared with normal fetuses.

Fetal thigh and upper-arm volumes by three-dimensional ultrasound to predict low postnatal body mass index

Abstract Objective: To assess the usefulness of estimating fetal upper arm and thigh volumes as predictors of low postnatal body mass index (BMI) using three-dimensional ultrasonography (3DUS) with extended imaging virtual organ computer-aided analysis (XI VOCAL). Methods: This prospective cross-sectional study analyzed 300 singleton pregnancies between 33 and 41 weeks of gestation. The Hadlock 4 formula was used to estimate fetal weight. The XI VOCAL 10 planes method was used to assess fetal upper arm and thigh volumes. After delivery, the newborns’ BMI was evaluated and considered low (≤10th percentile) or normal (>10th percentile). We determined receiver operating characteristics (ROC) curves and respective areas under the curves for the percentiles of fetal weight and fetal thigh and upper arm volumes. Results: Of the 300 newborns, BMI was ≤10th percentile for 21 and >10th percentile for 279 newborns. The area under the ROC curve for fetal weight, obtained using the Hadlock formula, and fetal upper arm and thigh volumes, obtained by 3DUS, were 0.801, 0.930 and 0.924, respectively. We determined the sensitivity and specificity of the three parameters for predicting low postnatal BMI and found values of 85.70% and 65.60%, respectively, for fetal weight, 90.48% and 88.17%, respectively, for fetal thigh volume, and 76.19% and 92.47%, respectively, for fetal upper arm volume. Conclusion: Fetal upper arm and thigh volumes estimated using 3DUS with XI VOCAL were effective predictors of low postnatal BMI.