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Congenital infection with cytomegalovirus is a major cause of morbidity in neonates. In this phase 2, placebo-controlled trial, hyperimmune globulin given to mothers with primary CMV infection at 5 to 26 weeks of gestation did not significantly alter the course of infection. Every year, approximately 0.6% of all newborns in the United States and the European Union are congenitally infected with human cytomegalovirus (CMV). 1 , 2 Approximately 20% of these infected newborns are symptomatic at birth or will have sequelae such as sensorineural hearing loss, cognitive defects, and motor defects. 3 Primary CMV infection that develops in a woman during pregnancy confers the highest risk of congenital infection and disease. 4 Identification of pregnant women with primary CMV infection is feasible by means of detection of virus-specific IgM and low IgG avidity. However, the unavailability of a therapeutic intervention of proven efficacy in the case . . .

Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma. In a hope to reduce the numerous surgical procedures, medical complications, and lifelong disabilities associated with MMC, the proposal of prenatal closure was put forth more than two decades ago. After promising results in animal models and some clinical series, a randomized controlled trial, the Management of Myelomeningocele Study (MOMS), was conducted. The MOMS trial demonstrated that closure during the prenatal period could be performed relatively safely and can result in significant benefit to the child. Specifically, prenatal closure results in improved motor function, reduced hindbrain herniation, and reduced need for a cerebral spinal fluid diversion. Long-term outcomes of the patients in the MOMS trial continues in the MOMS 2 study as these children grow. Additionally, investigations are underway on modifications to the open fetal MMC closure techniques.

Background and aim Prenatal diagnosis of fetal abnormalities is a critical and stressful event for women. Most pregnant women are concerned about fetal abnormalities and screening tests. Due to the importance of anxiety reduction in pregnant women, this study was conducted to determine the effect of short-term psychological intervention on the anxiety of pregnant women with positive screening results for chromosomal disorders. Methods A randomized clinical trial was performed on women referred to Akbarabadi Hospital in Tehran, Iran, who had positive screening results for chromosomal abnormalities. Participants were selected from eligible individuals by a continuous method and were assigned to two groups of cognitive-behavioral training ( n  = 46) and control ( n  = 46), using the block balanced randomization method. Participants in the cognitive-behavioral training group received 4 sessions of individual counseling. The control group received routine pregnancy visits. The Spielberger State-Trait Anxiety Inventory was completed before the intervention and immediately at the end of the intervention (before receiving the amniocentesis result). The analysis of intervention effects was performed as intention-to-treat and per-protocol analysis. Results There was a statistically significant difference in post-intervention state anxiety scores and trait anxiety scores ( p  <  0.001) between the intervention and control groups, when their means were adjusted for pre-intervention scores for both intention-to-treat and per-protocol analysis. Also, there was a large effect size between the groups in terms of state (ITT: η p 2  = 0.63, PP: η p 2  = 0.71) and trait (ITT: η p 2  = 0.72, PP: η p 2  = 0.75) anxiety scores clinically for both intention-to-treat and per-protocol analysis. The intervention group had a statistically significant and large decrease in state and trait anxiety scores from pretrial to post-trial. In contrast, the control group had a statistically significant and medium increase in state and trait anxiety scores from pretrial to post-trial. Conclusion The results showed that cognitive-behavioral training reduced the anxiety of pregnant women with positive screening results for chromosomal disorders. According to the results, it is recommended to hold cognitive-behavioral training classes to reduce the anxiety of pregnant women with a positive screening result for chromosomal disorders. Trial registration IRCT.ir: IRCT20180427039436N7 ; date of registration: 24/08/2020 2020-08-24.

In this randomized trial of fetal pulse oximetry, there were no significant differences in the rates of cesarean delivery (overall or for the indication of a nonreassuring fetal heart rate) or in the conditions of infants at birth between women whose clinicians were made aware of the oximetry results and women whose clinicians were not. These findings do not support the use of fetal pulse oximetry in women in labor. In this randomized trial of fetal pulse oximetry, there were no significant differences in the rates of cesarean delivery or in the conditions of infants at birth between women whose clinicians were made aware of the oximetry results and women whose clinicians were not. In 2003, electronic fetal monitoring was used during approximately 3.2 million labors in the United States, accounting for 85% of all live births and making it the most common obstetrical procedure performed in this country. 1 Despite its widespread use, there is controversy about the interpretation and efficacy of electronic fetal monitoring. 2 For example, some people believe that the use of electronic fetal monitoring to detect a nonreassuring fetal heart rate is one of the many factors contributing to the escalating rate of cesarean delivery in the United States, which by 2004 had reached nearly 30%. 3 In May 2000, the Food . . .

Objective: Pregnancies at risk of fetal and neonatal alloimmune thrombocytopenia (FNAIT) are commonly treated using weekly intravenous immunoglobulin (IVIG) at 1 g/kg maternal weight. IVIG is an expensive multidonor human blood product with dose-related side effects. Our aim was to evaluate the effectiveness of IVIG at a lower dose, i.e. 0.5 g/kg. Methods: This was a randomized controlled multicenter trial conducted in Sweden, the Netherlands and Australia. Pregnant women with human platelet antigen alloantibodies and an affected previous child without intracranial hemorrhage (ICH) were enrolled. The participants were randomized to IVIG at 0.5 or 1 g/kg per week. The analyses were per intention to treat. The primary outcome was fetal or neonatal ICH. Secondary outcomes were platelet count at birth, maternal and neonatal IgG levels, neonatal treatment and bleeding other than ICH. Results: A total of 23 women were randomized into two groups (low dose: n = 12; standard dose: n = 11). The trial was stopped early due to poor recruitment. No ICH occurred. The median newborn platelet count was 81 × 10 9 /l (range 8-269) in the 0.5 g/kg group versus 110 × 10 9 /l (range 11-279) in the 1 g/kg group (p = 0.644). Conclusion: The risk of adverse outcomes in FNAIT pregnancies treated with IVIG at 0.5 g/kg is very low, similar to that using 1 g/kg, although our uncompleted trial lacked the power to conclusively prove the noninferiority of using the low dose.

Acute fatty liver of pregnancy (AFLP) is an obstetric emergency characterized by maternal liver failure and may have complications for the mother and fetus, including death. This review examines recent literature on the epidemiology, pathogenesis, diagnosis, and treatment of acute fatty liver of pregnancy. Pathogenesis of this disease has been linked to defects in fatty acid metabolism during pregnancy, especially in the setting of fetal genetic defects in fatty acid oxidation. The value of screening all patients for these genetic defects remains to be determined. Distinguishing AFLP from other high-risk liver diseases of pregnancy that have overlap features, such as HELLP and preeclampsia, can be challenging. Although sensitive diagnostic tools such as the Swansea criteria have been developed, further work is needed to diagnose AFLP more quickly. Although survival rates have improved in the past 30 years, delay in diagnosis and treatment of AFLP has life-threatening consequences; an algorithmic approach to AFLP may be a valuable resource for clinicians. Future epidemiological and long-term studies will improve our prediction of women at risk for developing AFLP and determine the long-term consequences of this condition.

Background Fetal heart rate (FHR) monitoring is a screening tool used by obstetricians to evaluate the fetal state. Because of the complexity and non-linearity, a visual interpretation of FHR signals using common guidelines usually results in significant subjective inter-observer and intra-observer variability. Objective: Therefore, computer aided diagnosis (CAD) systems based on advanced artificial intelligence (AI) technology have recently been developed to assist obstetricians in making objective medical decisions. Methods In this work, we present an 8-layer deep convolutional neural network (CNN) framework to automatically predict fetal acidemia. After signal preprocessing, the input 2-dimensional (2D) images are obtained using the continuous wavelet transform (CWT), which provides a better way to observe and capture the hidden characteristic information of the FHR signals in both the time and frequency domains. Unlike the conventional machine learning (ML) approaches, this work does not require the execution of complex feature engineering, i.e., feature extraction and selection. In fact, 2D CNN model can self-learn useful features from the input data with the prerequisite of not losing informative features, representing the tremendous advantage of deep learning (DL) over ML. Results Based on the test open-access database (CTU-UHB), after comprehensive experimentation, we achieved better classification performance using the optimal CNN configuration compared to other state-of-the-art methods: the averaged ten-fold cross-validation of the accuracy, sensitivity, specificity, quality index defined as the geometric mean of the sensitivity and specificity, and the area under the curve yielded results of 98.34, 98.22, 94.87, 96.53 and 97.82%, respectively Conclusions Once the proposed CNN model is successfully trained, the corresponding CAD system can be served as an effective tool to predict fetal asphyxia objectively and accurately.

Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched area. The current generation of tests using massively parallel sequencing is based on counting plasma DNA sequences originating from different genomic regions. In this study, we explored a different approach that is based on the use of DNA fragment size as a diagnostic parameter. This approach is dependent on the fact that circulating fetal DNA molecules are generally shorter than the corresponding maternal DNA molecules. First, we performed plasma DNA size analysis using pairedend massively parallel sequencing and microchip-based capillary electrophoresis. We demonstrated that the fetal DNA fraction in maternal plasma could be deduced from the overall size distribution of maternal plasma DNA. The fetal DNA fraction is a critical parameter affecting the accuracy of noninvasive prenatal testing using maternal plasma DNA. Second, we showed that fetal chromosomal aneuploidy could be detected by observing an aberrant proportion of short fragments from an aneuploid chromosome in the paired-end sequencing data. Using this approach, we detected fetal trisomy 21 and trisomy 18 with 100% sensitivity (T21: 36/36; T18: 27/27) and 100% specificity (non-T21: 88/88; non-T18: 97/97). For trisomy 13, the sensitivity and specificity were 95.2% (20/21) and 99% (102/103), respectively. For monosomy X, the sensitivity and specificity were both 100% (10/10 and 8/8). Thus, this study establishes the principle of size-based molecular diagnostics using plasma DNA. This approach has potential applications beyond noninvasive prenatal testing to areas such as oncology and transplantation monitoring.

This large, systematic study of prenatal diagnosis shows that chromosomal microarray analysis provided additional, clinically significant cytogenetic information as compared with karyotyping but did not identify triploidies and balanced translocations. The development of array-based molecular cytogenetic techniques has improved the detection of small genomic deletions and duplications (called copy-number variants) that are not routinely seen on karyotyping, the standard cytogenetic analysis performed. Copy-number variants result in a variation from the expected number of copies of a segment of DNA (i.e., the number in a normal genome). Copy-number variants can be either benign or pathogenic, depending on their location and genetic content. They are identified with the use of chromosomal microarray analysis in which a test sample of DNA from the patient is compared directly or indirectly with a reference (normal) . . .

Purpose We investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal gene-specific sequencing. Methods Exome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Parents provided consent to be informed of diagnostic results in the fetus, medically actionable findings in the parents, and their identification as carrier couples for significant autosomal recessive conditions. We assessed the perceptions and understanding of exome sequencing using mixed methods in 15 mother−father dyads. Results In seven (47%) of 15 fetuses, exome sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: COL1A1 , MUSK , KCTD1 , RTTN , TMEM67 , PIEZO1 and DYNC2H1 . One additional case revealed a de novo nonsense mutation in a novel candidate gene ( MAP4K4 ). The perceived likelihood that exome sequencing would explain the results (5.2 on a 10-point scale) was higher than the approximately 30% diagnostic yield discussed in pretest counseling. Conclusion Exome sequencing had diagnostic utility in a highly select population of fetuses where a genetic diagnosis was highly suspected. Challenges related to genetics literacy and variant interpretation must be addressed by highly tailored pre- and posttest genetic counseling.