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Prenatal ultrasound has been regularly used as the screening tool for agenesis of corpus callosum (ACC) of the fetuses, which were mainly suspected on the basis of indirect signs rather than the visualization of the CC. However, the diagnostic accuracy of prenatal ultrasound for ACC, compared to the gold standard of postmortem diagnosis or postnatal images, is still unknown. This meta-analysis was performed to comprehensively evaluate the efficacy of prenatal ultrasound for the diagnosis of ACC. Studies evaluating the diagnostic accuracy of prenatal ultrasound for ACC compared to postmortem diagnosis or postnatal images were retrieved by searching PubMed, Embase, and Web of Science databases. Pooled sensitivity and specificity were calculated with a random-effects model. The diagnostic accuracy was measured by summarized area under the receiver operating characteristic (AUC) curve. Twelve studies involving 544 fetuses with suspected anomalies of central nervous system were included, and 143 of them were with validated diagnosis of ACC. Pooled results showed that prenatal ultrasound has satisfying diagnostic efficacy for ACC, with the pooled sensitivity, specificity, positive and negative likelihood ratios of 0.72 (95% confidence interval [CI]: 0.39–0.91), 0.98 (95% CI: 0.79–1.00), 43.73 (95% CI: 3.42–558.74, and 0.29 (95% CI: 0.11–0.74), respectively. The pooled AUC was 0.94 (95% CI: 0.92–0.96), suggesting good diagnostic performance of prenatal ultrasound. Subgroup analysis according to the prenatal ultrasound procedures showed a better diagnostic efficacy of neurosonography than that of regular ultrasound screening (sensitivity: 0.84 versus 0.57, specificity: 0.98 versus 0.89, and AUC: 0.97 versus 0.78). Prenatal ultrasound, particularly for the neurosonography, confers satisfying efficacy for the diagnosis of ACC. [ABSTRACT FROM AUTHOR]

Little is known regarding the effects of a prenatal diagnosis of congenital heart disease (CHD) on the cost of antenatal and delivery care. We sought to compare the maternal costs of care in pregnancies where the fetus or child was diagnosed prenatally vs. postnatally. Costs of maternal care were determined for pregnancies in which the fetus or child was diagnosed with CHD between 1997 and 2012 in the state of Utah. Cases of CHD were identified via a statewide birth defect surveillance program which included data on the timing of diagnosis, maternal demographic and clinical data, and linked to statewide inpatient maternal hospital discharge records. Antenatal testing costs were determined using Medicaid fee estimates and total facility costs were determined for all hospitalizations including delivery. The association of timing of diagnosis of CHD with costs was analyzed using univariable and multivariable models. Of 2128 pregnancies included in the study, 36% had a fetus prenatally diagnosed with CHD. The prenatal diagnosis group was more likely to have a termination or stillbirth and were younger at delivery (gestational age 37.3 vs 38.0 weeks, p <.001). Labor induction and cesarean delivery rates were similar between groups. Antenatal testing and delivery hospitalization costs were higher in the prenatal diagnosis group: $5819 vs $4041 (p <.001) and $10,509 vs $7802 (p <.001), respectively. Patients in the prenatal diagnosis group had longer lengths of hospital stays (3.5 vs 2.4 d, p >.001). After controlling for significant differences between the groups, including lesion severity, the prenatal diagnosis remained directly associated with antenatal testing costs (+$1472), maternal hospitalization costs (+$2713), and maternal hospital length of stay (+1.0 d). A prenatal diagnosis of fetal CHD was associated with increased prenatal costs, hospitalization costs, and hospital length of stay for affected pregnant patients. [ABSTRACT FROM AUTHOR]

Since the first case of the hemolytic disease of the fetus and newborn (HDFN) caused by anti-K was reported in 1946, the fetal diagnosis of K-HDFN has made rapid progress from invasive immunological and biochemical tests to noninvasive Doppler ultrasound and molecular biology techniques. However, its treatment, especially prenatal intervention, has developed slowly compared with RhD-HDFN. This review attempts to clarify the current key points and explore the direction of the next phase by systematically reviewing the development of diagnosis and treatment of this disease, which involving multidisciplinary participation. [ABSTRACT FROM AUTHOR]

Objective: Premature rupture of the membranes (PROM) remains a leading cause of neonatal morbidity. The objectives of the present study were to analyze the outcomes of pregnancies complicated by PROM between 22 and 27+6 weeks of gestation (WG) and to study antepartum risk factors that might predict neonatal death.Patients and Methods: One hundred and seven pregnancies were analyzed over a 3-year period in a tertiary maternity hospital. The collected maternal and neonatal data were used to model and predict the outcome of PROM.Results: Prevalence of PROM (for live births) was 1.08%, and the overall survival rate was 59.8%. From preselected candidate variables, gestational age (GA) at PROM (p = .0002), a positive vaginal culture for pathogenic bacteria (p = .01), primiparity (p = .02), and the quantity of amniotic fluid (p = .03) were included in a multivariable logistic regression analysis. The corresponding adjusted odds ratios [95% confidence interval] were, respectively, 0.91 [0.87-0.96], 11.08 [1.65-74.42], 0.55 [0.33-0.91], and 0.97 [0.95-0.99]. These parameters were used to build a predictive score for neonatal death.Conclusions: The survival rate after PROM at 22-27+6 weeks of gestation was 59.8%. Our predictive model (built using multivariable logistic regression) may be of value for obstetricians and neonatologists counseling couples after PROM. [ABSTRACT FROM AUTHOR]

Background: Some studies have already investigated about the short-term favorable metabolic effects of breastfeeding in women with previous gestational diabetes mellitus (GDM).Aim: The aim of our study is to confirm whether the positive effects reported are maintained in the larger cohorts of patients with mild form of gestational diabetes mellitus (GDM) because recently diagnosed according to IADPSG criteria.Materials and Methods: This retrospective study includes 97 evaluable consecutive women with prior GDM who have the follow-up oral glucose tolerance test at least 3 months after delivery. Fasting and 2-h plasma glucose values, homeostasis model assessment (HOMA-IR), total cholesterol, and triglycerides were obtained in pregnancy and during the post-partum control.Results: These patients were divided in 81 (83.5%) who lactate until 3 months and 16 (16.5%) who did not lactate. During pregnancy, there are no significant differences between the two groups for age, BMI, fasting and 2-h plasma glucose values, HOMA-IR, total cholesterol and triglycerides. At the postpartum control, we have at univariate analysis significant differences for all these parameters except total cholesterol. After adjustment for confounders we still have, in the breastfeeding group, HOMA-IR reduction (OR 0.370; 95% CI 0.170-0.805; p < .01) as significant independent variable, whose improvement is the most acknowledged important factor for the prevention of abnormal glucose tolerance later in life.Conclusion: These encouraging results confirm our determination to warmly advice the women affected by GDM to breastfeeding at least for 3 months. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks' gestational age (GA) and to study the accuracy of prenatal counseling on postnatal prognosis.Methods: A retrospective cohort study based on 146 cases of these fetal brain anomalies before 24 weeks' GA. Counseling on prognosis was compared with postnatal outcome. Data on genetic testing was analyzed.Results: Out of 146 cases, 135 (92%) were diagnosed correctly before 24 weeks' GA. Accuracy was 98% (97/99) in cases with multiple anomalies and 81% (38/47) in cases with an isolated abnormality. Counseling on prognosis was correct in 143 out of 146 cases (98%). Prenatal genetic diagnostics detected an anomaly in 51/113 (45%) of cases. In 14/62 (23%) cases prenatal karyotyping was normal, but postnatal array-CGH detected a pathogenic anomaly.Conclusions: Despite the challenges of early gestation, accuracy in diagnosing and counseling fetal brain anomalies before 24 weeks' GA was high. Prenatal genetic testing is a valuable diagnostic tool and should be offered to all women with fetal brain anomalies. Considering the many different types of anomalies and diverse etiologies, a multidisciplinary approach is essential for counseling on postnatal outcome. [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]

Purpose: We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center.Methods: Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13 + 6 weeks of gestation. We assessed the crown to rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A, and free β-hCG in maternal serum. We evaluated additional first trimester ultrasound markers in most of the cases. The individual risk for aneuploidies was calculated using the FMF algorithm.Results: Pregnancy outcome is known for 6030 euploid fetuses and 42 aneuploid fetuses from our screening population. The detection rate for trisomy 21 of the combined test was 87.5% for a screen positive rate of 1.96%. All of the trisomy 18 and trisomy 13 cases were detected prenatally. Some of the trisomy 18 cases proved not to be symptomatic in the first trimester.Conclusions: Our results are similar to those of the main studies on the FMF method of first trimester screening for aneuploidies. Our numbers are small because of limited availability of the very specialized resources involved. [ABSTRACT FROM AUTHOR]

Introduction: Although single-suture craniosynostosis is diagnosed sporadically during pregnancy, timely referral is critical for its treatment. Additionally, craniosynostosis leads to increased maternofetal trauma during birth. In the Netherlands, 95% of pregnant women receive a standard ultrasound at around 20 weeks of gestation, potentially an ideal setting for detecting craniosynostosis prenatally. To enhance the prenatal detection of the metopic and the sagittal suture synostosis, we wished to identify new screening parameters.Materials and Methods: We retrospectively analyzed data of the 20-week anomaly scan in trigonocephaly patients (n = 41), scaphocephaly patients (n = 41), and matched controls (n = 82). We measured six different cranial dimensions, including head circumference, biparietal diameter, and occipito-frontal diameter, defining the cephalic index as the ratio between biparietal and occipito-frontal diameter.Results: Prenatal biometric measurements did not differ significantly between trigonocephaly patients and controls. Although significantly lower in scaphocephaly patients (0.76 versus 0.79; p = .000), the cephalic index by itself is not appropriate for screening at 20 weeks of gestation. Longitudinal analysis suggests that a deflection in BPD curve is found in scaphocephaly patients, starting at 20 weeks of gestation.Conclusions: Prenatal biometric measurements do not differ significantly between trigonocephaly patients and controls. The CI is lower in scaphocephaly patients. A deflection in BPD curve should be followed by 3 D imaging of the cranial sutures. [ABSTRACT FROM AUTHOR]

Aim: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period.Materials and Methods: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period.Results: We identified 123 cases. The median age at diagnosis was 25 GA (14-38 weeks GA). Eighty patients had 128 associated congenital anomalies. The congenital abnormalities most frequently associated with antenatal diagnosis of CPSS were congenital cardiac disease (30 cases), intrauterine growth restriction (21 cases), vascular anomalies (14 cases), and trisomy 21 (7 cases). Seventy-five complications were reported in the literature. The most frequent were antenatal hemodynamic abnormalities (27 cases), neonatal cholestasis (11 cases), and hyperammonemia (10 cases). Twenty-nine patients had no complications. The choice of treatment was conservative in 29/56 cases, interventional radiology in 15 cases and surgery in 15 cases (three of the latter after failure of embolization).Conclusion: From this review, we propose an algorithm for the perinatal management of this congenital abnormality. [ABSTRACT FROM AUTHOR]

Purpose: One of the greatest challenges with the finding of adducted thumbs in the prenatal setting is the determination of whether this finding is associated with an underlying genetic syndrome. The aim of the present study is to describe the characteristics and outcome of prenatal sonographic diagnosis of adducted thumbs.Methods: A retrospective study was conducted over a period of 17 years in a tertiary referral center. All fetuses diagnosed prenatally with adducted thumbs comprised the study group. Prenatal sonographic assessment and neonatal outcome are presented.Results: Six fetuses were evaluated for adducted thumbs over the 17-year period. In three cases, the parents elected termination of pregnancy for severe associated anomalies. In one case partial resolution was observed during the third trimester. Of the remaining two fetuses, one had a single umbilical artery and in the second the adducted thumbs were an isolated finding. Post-natal evaluation in both cases revealed bilateral adducted thumbs. Apart from orthopedic follow up no further interventions were needed.Conclusions: Prenatal diagnosis of adducted thumbs should be followed by a meticulous fetal ultrasound examination combined with genetic counseling. According to our cohort, if associated anomalies are excluded, isolated cases seem to have a favorable diagnosis. [ABSTRACT FROM AUTHOR]

Background: This study aims to assess the diagnostic and prognostic value of Swansea criteria in diagnosing acute fatty liver of pregnancy (AFLP) in a Chinese population.Methods: A retrospective study was conducted on 52 Chinese women diagnosed with AFLP. All selected cases were reassessed using the Swansea criteria with special focus on the noninvasive criteria, since performing a liver biopsy for this indication is rare in a Chinese population.Results: Ninety point four percent of patients fulfilled five or more of the Swansea criteria. Thirty-one cases were positive for six or more Swansea criteria, but there were no significance differences between patients when using a cutoff criteria <6 or >6. When patients were positive for less than seven criteria, frequency of stillbirth, continuous blood purification (CBP) treatment, hysterectomy, and postpartum hemorrhage were not increased. However, patients who were positive for seven or more criteria had a significantly higher risk of stillbirth and a higher rate of CBP treatment (p < 0.05). Areas under the receiver operating characteristic (ROC) curve of postpartum hemorrhage was 0.670, which reached a statistical significance (p = 0.040). We observed a significantly elevated postpartum hemorrhage along with positivity of the Swansea criteria (p = 0.040).Conclusions: Swansea criteria without liver biopsy are good screening tools for AFLP diagnosis, and may be useful for assessing disease severity. [ABSTRACT FROM AUTHOR]

Objective: We aimed to determine the potential value of maternal serum levels of acute phase reactants in the prediction of preterm delivery in women with threatened preterm labor (TPL).Methods: Ninety-one pregnant women diagnosed with TPL and 83 healthy pregnant women as a control group were included in this prospective controlled study. All the pregnant women were followed until delivery and obstetric data and the serum levels of acute phase reactants were recorded for each participant. The study group was further divided into two groups according to the gestational age at delivery, which include women delivering prematurely and the ones who gave birth at term.Results: Serum albumin levels were significantly lower and mean serum ferritin levels were significantly higher in the study groups when compared the control group.Conclusion: Although an association between decreased serum albumin level and TPL, also between increased serum ferritin levels and preterm birth and low birth weight were demonstrated, more extensive studies are needed to clarify the potential use of the acute phase reactants in the prediction of preterm birth. [ABSTRACT FROM AUTHOR]

Objective: Increasing maternal weight has been shown to predict adverse perinatal outcome, including increases in the relative risk of fetal death, stillbirth, neonatal death, perinatal death and infant death. In order to better understand the pathophysiological factors associated with obesity during pregnancy, the role of biomarkers associated with adverse outcomes in obese pregnant women is under investigation. The purpose of this review study was to examine potential biomarkers that could serve as effective screening strategies in obese pregnant women to reduce fetal and neonatal morbidity, as well as maternal morbidity.Methods: Electronic databases (Pubmed, Embase) were searched for previously published research studies that investigated biomarkers associated with perinatal outcomes in obese pregnant women and the putative mechanisms underlying biomarker effects on pregnancy outcomes.Results: It is evident that while several biomarkers predict perinatal complications in obese pregnant women, none fulfilled the criteria to be considered clinically useful.Conclusion: There is a critical need for reliable blood-based biomarkers associated with an increased risk of adverse perinatal outcomes in obese pregnant women. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs.Material and Methods: We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20,831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A (Combined test). On the basis of our data, we estimated the performance and cost of screening for trisomies using three different models at specific cutoffs: Combined test; Cell free DNA test and Contingent screening test.Results: Using Combined test, DR for major trisomies was estimated to be 94.92%, invasive test rate was 6.3%. cfDNA would result in a DR of 97.92%, with an invasive test rate of 3.64%. Contingent screening approach would result in an overall DR of 97.82, with a rate for invasive procedure of 1.36% and a final cost lower than other screening policies (2,338,433 euro vs 5,796,060 of cfDNA and 2,385,473 of Combined test).Conclusions: Contingent screening test could be a cost-efficient and feasible first trimester screening test for aneuploidies in public health system. [ABSTRACT FROM AUTHOR]

Objective: To assess the impact of prenatal diagnosis of transposition of the great arteries (TGA) on postnatal outcome.Methods: Hundred and fifty-four patients with either simple (n = 101) or complex forms (n = 53) of TGA, diagnosed prenatally (G1, n = 88) or postnatally (G2, n = 66), who were admitted and underwent surgical correction in our centre between 1998 and 2014, were analysed.Results: Prostaglandin E1 (PgE1) infusion and balloon atrial septostomy (BAS) were performed in the first 48 h after birth more commonly in G1. The hospital mortality rate for the whole group was 7.1%, higher for complex forms (13.2%) than for simple TGA (3.9%), (p = 0.034). The overall mortality rate was similar in G1 and G2. The mortality for simple TGA was higher when PgE1 infusion and BAS were implemented after the first 48 h (p = 0.001). All deaths in G2 occurred in patients first receiving PgE1 and BAS beyond 48 h. PgE1 was initiated in the first 48 h in most patients (83%) with simple TGA postnatally diagnosed.Conclusions: Adequate measures in the first 48 h after birth are essential to reduce the early mortality in TGA, especially in the simple form. This can be provided by prenatal diagnosis or by early neonatal clinical suspicion and prompt measures. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to assess longitudinal changes of bioimpedance analysis compared with anthropometric measurements in low-risk pregnant woman recruited in the first trimester and to observe possible differences in these indices in women who developed high-risk pregnancies.Materials and Methods: Bioimpedance indices for the three trimesters of pregnancies were calculated separately for uneventful pregnancies delivered of newborns > the 10th centile. These findings were compared with anthropometric measurements. Data of women who developed hypertensive disorders of pregnancy (HDP) or delivered SGA newborns were calculated and compared.Results: Significantly longitudinal increases were observed in these pregnancies for total body water (TBW), free fat mass, fat mass, and extra-cellular water. These increases were paralleled body mass index (BMI), skinfolds, and waist measurements. The correlations between these two sets of findings were poor. Women who developed HDP with AGA fetuses showed significantly different bioimpedance from normal cases. TBW indices were highly significantly different since the first trimester. In pregnancies delivered of SGA newborns, these indices were opposite of the values observed in patients with HDP-AGA, TBW in these patients was significantly reduced compared with normal pregnancies.Conclusions: The bioelectrical impedance is a fast, simple, noninvasive way to assess the TBW content in pregnancy. Our findings are in agreement with the hypothesis that bioimpedance might help to identify early in gestation patients at risk of developing different clinical phenotypes of hypertensive disease of pregnancy and SGA fetuses. [ABSTRACT FROM AUTHOR]

Purpose: The goal of this study was to gain a better understanding of the status of advanced maternal age among criteria for provision of amniocentesis in pregnant women in Taiwan.Materials and Method: Data of 315 670 second-trimester amniocenteses from 28 national certified cytogenetics laboratories were retrospectively analyzed from the Prenatal Genetic Diagnosis Declaring and Database System of the Health Promotion Administration, Ministry of Health and Welfare in Taiwan between 2006 and 2013.Results: The number of pregnant women undergoing amniocentesis in Taiwan between 2006 and 2013 increased, and the most common three indications for amniocentesis were advance maternal age (75.11%), abnormal second trimester maternal serum screening (13.22%) and abnormal sonographic finding (8.00%). Down syndrome was the most common autosomal abnormality identified (25.74%); Turner syndrome was the most common sex chromosome abnormality (7.04%). Of structural rearrangements, 26.93% were balanced translocations and 17.10% were unbalanced translocations. The greatest proportion of fetal chromosomal abnormalities was found in cases where parents were also affected (38.02%).Conclusions: Clinical workers should provide detailed genetic diagnostic information to pregnant women, especially those with the common amniocentesis indications, which will enable them to determine a birth plan. [ABSTRACT FROM AUTHOR]

Congenital upper limb differences are frequently associated with complex syndromes. Ultrasonography is considered as the first-line diagnostic modality, and fetal MRI can be useful to further evaluate ill-defined areas. Genetic and non-invasive prenatal testing help to identify the underlying genetic disorder. The diagnostic assessment is a multidisciplinary task that should involve early prenatal consultations with specialists involved in case management and treatment planning. Obstetricians, geneticists, radiologists, psychologists and dedicated surgeons are needed to provide good parental education, prenatal and postnatal care, and successful outcomes. The purpose of this review is to provide an overview of the clinicopathologic background, current diagnostic and imaging procedures in affected fetuses. [ABSTRACT FROM AUTHOR]

Purpose: To determine if sonographic variables, including fetal femur length to abdominal circumference (FL/AC) ratio, are associated with shoulder dystocia in women with gestational diabetes.Methods: This was a retrospective cohort study of women with gestational diabetes who delivered singleton infants at Parkland Hospital from 1997 to 2015. Diagnosis and treatment of gestational diabetes were uniform including sonography at 32-36 weeks. Biometric calculations were evaluated for correlation with shoulder dystocia.Results: During the study period, 6952 women with gestational diabetes underwent a sonogram at a mean gestation of 34.8 ± 1.8 weeks. Of 4183 vaginal deliveries, 66 experienced shoulder dystocia (16/1000). The FL/AC was associated with shoulder dystocia (p < 0.001) with an AUC of 0.70 (95% CI: 0.64-0.77). This was similar to age-adjusted AC and head circumference to AC ratio (HC/AC) (both with an AUC of 0.72). All other measurements, including estimated fetal weight, were inferior. When examining the 257 women with multiple sonograms after 32 weeks' gestation, FL/AC was stable with advancing gestational age (p = 0.54) whereas age-adjusted AC and HC/AC were not (p < 0.001).Conclusions: The FL/AC is associated with shoulder dystocia in women with gestational diabetes. Additionally, it is a simple ratio that is independent of the reference used and remains stable, unlike age-adjusted AC and HC/AC ratio. [ABSTRACT FROM AUTHOR]

Purpose: To determine the sonographic criteria for diagnosis of fetal intracranial hemorrhage (ICH), using both gray scale ultrasound, and tomographic ultrasound imaging (TUI).Materials and Methods: A prospective multicenter study, recruiting patients at risk of fetal ICH over four years. All cases with fetal ICH had serial ultrasound assessments, including TUI, fetal and postnatal MRIs.Results: Twenty-one patients were diagnosed with fetal ICH, two cases had extracerebral (subdural) hemorrhage, 16 cases had intracerebral (intraventricular) hemorrhage and three cases had combined hemorrhage. The mean gestational age at which they were diagnosed was 29.8 ± 5.2 weeks. Seventy-six percent of cases had no identifiable risk factors. IUGR was associated with 57.9% of cases. Using grey scale ultrasound, we demonstrated clear cut sonographic criteria for diagnosis of fetal ICH. TUI enabled us to detect some midline cerebral lesions not detected by grey scale 2D ultrasound alone. Fetal and postnatal MRI confirmed those findings.Conclusion: Ultrasonography can be used in the detection, classification and monitoring the progression of various types of ICH. TUI is an additional diagnostic tool that might help to detect the exact size, and extent of those lesions. Fetal MRI is not superior, but might aid in the diagnosis. [ABSTRACT FROM AUTHOR]

Purpose: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings.Methods: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed.Results: A total of 18 cases including the one we present were selected. Among the most frequent sonographic features, skull shape anomalies were evident in 72.2% of cases, nasal abnormalities in 50%, proptosis and hypertelorism in 44.4% and frontal bossing in 22.2%. Thumbs' anomalies were present in 33.3% of cases and toes' abnormalities in 38.9%. In all cases, postnatal or postmortem examination confirmed the prenatal diagnosis of PS.Conclusions: We provide a literature review of prenatal diagnosis of PS to identify ultrasound features that may be supportive in the diagnosis of this rare disease, helping in making a differential diagnosis with the other possible craniosynostosis syndromes and in suggesting gene molecular testing. [ABSTRACT FROM AUTHOR]

Background: Prenatal detection of congenital malformations gives an opportunity to positively influence prenatal and postnatal management, survival and morbidity, as well as to allow parental choice and psychological preparation.Objective: To examine the available evidence regarding the impact of detection and underdetection of fetal anomalies as well as that of fetal therapy on neonatal outcome, parental psychological wellness and neonatal care organization.Methods: Literature search of PubMed.Results and Conclusions: The impact of prenatal diagnosis on neonatal survival and morbidity is dependent upon the type and severity of the anomalies inasmuch as upon the evaluation criteria chosen. We discuss the various pitfalls in the design of trials explaining why only few studies, targeting selected anomalies, have shown improved outcomes associated with prenatal diagnosis of congenital malformations. Fetal therapy applies mainly to conditions that are lethal either in utero or at birth if untreated before birth. It has rarely been evaluated with the highest level of evidence; this may be explained by a poor acceptability of randomization between prenatal intervention and expectancy up until delivery. [ABSTRACT FROM AUTHOR]

Objective: Previous studies have reported that concentrations of squamous cell carcinoma (SCC) antigen in amniotic fluid are extremely higher than that in the maternal serum. The aim of this study was to assess the potential clinical utility of vaginal fluid SCC level as a marker for diagnosing premature rupture of membranes (PROM).Methods: A case-control study was performed using patients admitted to Nara Medical University Hospital, delivery ward, from January 2011 to December 2012. The discriminatory potential of SCC assay was determined using 54 PROM and 108 gestational age-matched control vaginal fluid samples, in a 1:2 ratio. Levels of vaginal fluid SCC in patients with PROM and control pregnant women were quantified by an enzyme-linked immunosorbent assay.Results: The statistical results showed no correlation between gestational age and vaginal fluid SCC levels. There was no significant difference in vaginal fluid SCC levels between patients with PROM and those with control pregnant women (16156.5 ± 10495.8 ng/mL versus 15471.9 ± 11362.2 ng/mL, p = 0.467).Conclusion: We conclude that SCC could not be regarded as a potential marker for diagnosis of PROM. SCC may be a physiologic constituent of the vaginal fluid during pregnancy. [ABSTRACT FROM AUTHOR]

Objective: Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis.Methods: We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis.Results: The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly.Conclusion: This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought. [ABSTRACT FROM AUTHOR]

Objectives: Respiratory morbidity in congenital diaphragmatic hernia (CDH) is associated with high mortality and adverse outcome. Accurate prenatal diagnosis is essential for prognosis and potential treatment in utero. The aim was to evaluate the prenatal ultrasound findings in assessing the respiratory prognosis in fetuses with isolated left-sided CDH.Methods: We retrospectively analyzed the medical records of 59 prenatally diagnosed left-sided CDH cases managed at a tertiary perinatal center.Results: Survival rate in the study group was 73% (43/59). We found no statistically significant relationship between survival and the presence of polyhydramnios, gestational age at diagnosis, lung-to-head ratio (LHR) and observed/expected LHR (O/E LHR) values, gestational age at birth and birth weight. Intrathoracic liver herniation was a statistically significant parameter adversely affecting survival (37.2% in survivors, 68.8% in non-survivors, p = 0.031) and logistic regression confirmed this relationship. The presence of pneumothorax and severe pulmonary hypertension were significantly associated with mortality (82% non-survivors versus 15% in survivors, p = 0.0001).Conclusion: Intrathoracic liver herniation seems to be a reliable parameter in the prediction of survival and neonatal respiratory morbidity in fetuses with isolated left-sided CDH. In contrast, we found no significant correlation between perinatal outcome and LHR, O/E LHR values, birth weight and gestational age. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the correlation between different degrees of bowel intraluminal echogenicity showed by prenatal ultrasounds and the anatomic level of intestinal atresia.Methods: We report three cases of intestinal atresia at different intestinal levels verified during the neonatal surgery with specific ultrasonographic prenatal features. Intensity of sonolucency was analyzed using the image-processing program ImageJ for quantitative measurements based on the gray-scale intensity values.Results: A total of three cases are reported, a jejunal, an ileal and a colonic atresia. All cases showed intestinal dilatation. Both, jejunal and ileal atresia, showed two degrees of hypoechoic intestinal content, while colonic atresia showed hyperechogenic content dilated loop at prenatal ultrasound scan.Conclusions: We propose the use of prenatal ultrasounds echogenicity of intestinal dilated loop fluid content to help in determining the level of obstruction in bowel atresia. These are initial results, to be confirmed by a multicentric research with more cases. [ABSTRACT FROM AUTHOR]

Objective: The prenatal detection rate of isolated fetal limb abnormalities ranges from 4 to 29.5%. Our aim was to determine the accuracy of a detailed ultrasound protocol in detecting isolated fetal limb abnormalities Methods: This is a retrospective study of infants born at our institution with isolated limb defects from 2009 to 2014. Antepartum and postpartum records were reviewed for genetic testing results. We routinely image both upper and lower extremities, including all long bones, hands, feet, fingers and toes. Posturing, muscular tone and movement are also noted.Results: During the study period, there were 52 neonates born with isolated fetal limb abnormalities who had received a fetal anatomic survey in our ultrasound unit and 15 930 sonograms performed with normal findings; 36 out of the 52 had been prenatally diagnosed (detection rate 69%). The specificity of the protocol was 100% as there were no false positive cases, the positive predictive value was 100% and negative predictive value 99.8%. Forty-three of 52 neonates had normal genetic testing either prenatally or postnatally; 9 neonates did not undergo genetic testing. The average additional time required for this detailed protocol was <5 min for second trimester sonogram.Conclusion: A minimal investment in time for detailed evaluation of fetal limbs more than doubles the previously reported prenatal detection rate. [ABSTRACT FROM AUTHOR]

Objective: To compare neonatal growth outcomes determined by birth weight (BW), placental assessment (Plac Assess) and individualized growth assessment (IGA).Methods: This retrospective analysis was carried out in 45 selected pregnancies at risk for fetal growth restriction. Serial fetal biometry was carried out in the 2nd and 3rd trimester. First and second trimester placental biomarkers, 2nd trimester uterine artery (Ut A) velocimetry and postnatal placental pathology were evaluated as indicators of placental insufficiency. At delivery, weight (WT), head circumference (HC) and crown-heel length (CHL) were measured. BWs were categorized as large-for-gestational-age (LGA), appropriate-for-gestational-age (AGA) and small-for-gestational age (SGA) (<10th, 10th-90th and >90th percentiles). In these categories, neonatal growth outcomes were classified as growth restricted (GR), normal (NORMAL) or macrosomic (MACRO) based on BW plus Plac Assess (Ut A velocimetry, biomarkers, pathology) or IGA [growth potential realization index profile (WT, HC and CHL)].Results: There were 6 LGA, 14 AGA and 25 SGA neonates in this sample. All 14 AGA neonates were considered NORMAL by both IGA and BW + Plac Assess. All six LGA neonates were classified as MACRO by BW + Plac Assess but only four by IGA (the remaining two were NORMAL and high NORMAL). The 25 SGA cases could be divided into five subgroups based on IGA and BW + Plac Assess. The largest subgroup (56%) was GR and the next largest (24%) was NORMAL by both classification methods. In the remaining 20%, there was some evidence of GR but IGA and BW + Plac Assess were not in complete agreement.Conclusions: Agreement was good for all three methods in the LGA and AGA groups. The SGA group was heterogeneous but agreement between IGA and BW + Plac Assess was 89%. These results, using more sophisticated growth assessment methods, confirm placental insufficiency as a primary cause of growth restriction. Most normal and GR SGA neonates can be identified with conventional anatomical measurements if IGA is used. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the association of short-term variation (STV) of the fetal heart rate in predicting fetal acidaemia at birth.Methods: The search strategy employed searching of electronic databases (MEDLINE, Web of Science, Scopus, and Google Scholar) and reference lists of relevant studies. Data were extracted from studies, adhering strictly to the following criteria: singleton pregnancy at ≥24 weeks' gestation, computerized CTG (index test) and calculation of STV before delivery. The outcome measure was arterial pH assessed in cord blood obtained at birth.Results: Meta-analysis showed moderate accuracy of STV in predicting fetal acidaemia with a sensitivity of 0.57 (95% CI: 0.45-0.68), specificity of 0.81 (95% CI: 0.69-0.89), positive likelihood ratio of 3.14 (95% CI: 2.13-4.63) and negative likelihood ratio of 0.58, (95% CI: 0.46-0.72). However, in intra-uterine growth restricted fetuses, a small improvement in detecting acidaemia was observed; with a sensitivity of 0.63 (95% CI: 0.49-0.75) and negative likelihood ratio of 0.50 (95% CI: 0.31-0.80).Conclusion: STV appears to be a moderate predictor for fetal acidaemia. However, its usefulness as a stand-alone test in predicting acidaemia in clinical setting remains to be determined. [ABSTRACT FROM AUTHOR]

Aim: Placenta previa (PP) is a potential life-threatening pregnancy complication. Pro-brain natriuretic peptide (ProBNP), creatine kinase (CK), cardiac form of CK (CK-MB) and Troponin I are circulatory biomarkers related to cardiac functions. We aimed to determine whether these biomarkers are related to PP and placenta accreta.Methods: In this case-control study, fifty-four pregnant women who attended our tertiary care center for perinatology with the diagnosis of PP totalis, and of them, 14 patients with placenta accreta were recruited as the study groups. Forty-six uncomplicated control patients who were matched for age, BMI were also included. Maternal venous ProBNP, CK, CK-MB and Troponin I levels were compared between the three groups.Results: Obstetric history characteristics were comparable among groups, generally. CK and CK-MB levels were similar among three groups. Troponin I levels in the previa and accreta groups were significantly higher than the controls. ProBNP levels in the accreta group were significantly higher than other two groups. The multivariate regression model revealed that ProBNP could predict placental adhesion anomalies.Conclusions: Troponin I and ProBNP levels in PP cases were higher than controls and ProBNP could predict placenta accreta. [ABSTRACT FROM AUTHOR]

Objectives: Gastroschisis is a common abdominal wall defect. While most neonates have an excellent prognosis, complications do occur. Several risk factors for adverse neonatal outcomes have been identified, however, the impact of intrauterine growth restriction (IUGR) and oligohydramnios on neonatal morbidity and mortality has not been fully elucidated.Methods: In this retrospective cohort study of pregnancies complicated by gastroschisis at two tertiary-care centers during an eight-year period, maternal, fetal and neonatal data were analyzed to estimate the impact of IUGR and oligohydramnios upon neonatal outcomes. Adverse outcomes were defined as five-minute Apgar score <7, umbilical cord pH <7.12, neonatal sepsis, prolonged ventilator support, prolonged total parenteral nutrition, extended NICU stay, death and a composite of the above.Results: Among the 179 cases of gastroschisis, there were no differences in maternal demographics between cases with and without IUGR or oligohydramnios. Fetuses with oligohydramnios demonstrated a trend toward lower birthweight (p = 0.06). Small for gestational age infants showed a trend toward prolonged ventilator support (p = 0.06). Oligohydramnios and IUGR were otherwise not associated with adverse neonatal outcomes.Conclusions: While risk factors for adverse neonatal outcomes have been identified in pregnancies complicated by gastroschisis, IUGR and oligohydramnios do not appear to be among them. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study is to disclose characteristics of birth defects in perinatal infants in Dalian and provide an epidemiological basis for controlling birth defects.Methods: Data used in this study were collected from surveillance hospitals in Dalian during 2006-2010. Comparison analysis and trend analysis were conducted by performing Chi-square tests.Results: The perinatal prevalence of birth defects from 2006 to 2010 was 101.14 per 10 000 live births and was decreased by about 29% from 115.49 per 10 000 live births in 2006 to 81.16 per 10 000 live births in 2010. The prevalence in urban was higher than that in rural areas significantly. The three leading birth defects were congenital heart disease, cleft lip and/or palate, and polydactyly or syndactyly. About 572 cases identified by antenatal diagnosis were terminated pregnancy before 28 weeks of gestation, so the prevalence of birth defects would decrease from 126.29/10 000 to 101.14/10 000.Conclusions: Dalian has experienced a decreasing temporal trend of birth defects' prevalence; however, it is still confronted with the challenge to reduce the prevalence of birth defects. Congenital heart diseases are the focus to prevent birth defects. It is necessary to keep the surveillance system function properly, provide preconception health care service extensively, and improve the ability of prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Objective: To describe the natural history of expectantly managed twin-twin transfusion syndrome (TTTS) specific to disease stage.Methods: This was a retrospective study of monochorionic diamniotic pregnancies diagnosed with TTTS and delivered between 1997 and 2013. Staging was based on Quintero's criteria, with sonogram images reviewed to confirm findings specific to stage. Progression and outcomes were evaluated in pregnancies that did not receive any form of therapy.Results: Thirty-eight pregnancies were diagnosed with TTTS and delivered at our institution, representing 1.6 per 10 000 births. Twenty were expectantly managed, of which 50% were stage I at presentation. Progression occurred in 45% of pregnancies, including 50% initially diagnosed with stage I TTTS. Seventy percent of pregnancies experienced survival of at least one twin, with no stillbirths or neonatal deaths if TTTS resolved. Pregnancies in which TTTS was either stable or improved had higher overall survival, compared with pregnancies that experienced progression, 86% versus 22%, p < 0.001, as well as more frequent survival of one or both twins, 91% versus 44%, p = 0.02.Conclusions: Among expectantly managed pregnancies with TTTS, most had early disease at diagnosis. Although 45% of cases progressed, which conferred poor prognosis, the majority experienced disease stabilization or improvement. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to describe the fetal/neonatal cytomegalovirus (CMV) status according to chorionicity and outcome in twin pregnancies diagnosed with CMV.Methods: An opportunistic diagnosis of CMV infection was performed in a tertiary referral center. All cases diagnosed in twin pregnancies (2006-2011) were included. Prenatal diagnosis was performed by CMV-DNA in the amniotic fluid (AF) of both fetuses only on the evidence of sonographic findings in either one or both twins. Neonatal screening was selectively assessed in symptomatic newborns, preterm, and infants born to HIV-infected mothers. Congenital infection was considered in the presence of CMV-DNA in AF, fetal tissues or newborn urine within the first 2 weeks of life, and symptomatic disease with clinical findings at birth or autopsy.Results: A total of six twin pregnancies with congenital CMV infection were diagnosed, five dichorionic and one monochorionic diamniotic. Only one sibling was infected among dichorionic pregnancies, two diagnosed prenatally, and three after birth. In the monochorionic pregnancy, the diagnosis was performed prenatally and the two fetuses were infected and severely damaged.Conclusions: Congenital CMV infection in twins might be related, among other factors, to chorionicity, and in DC twins a non-concordant infection can be expected. [ABSTRACT FROM AUTHOR]

Objective: To design and evaluate a noninvasive protocol for prenatal diagnosis (PND) of β-thalassemia, using cell free fetal DNA (cff-DNA) in maternal circulation. Traditional current PND which is mainly based on chorionic villous sampling (CVS), amplification refractory mutation system and sequencing holds as gold standard. Methods: Ten thalassemia trait couples with distinct mutations for the husband and wife were included in this study. The mutations in carrier fathers were IVSI-1, IVSI-5, FR8/9 and CD44. After maternal plasma isolation and free DNA extraction, all samples subjected to designed protocol including DNA size separation on agarose gel, elution of DNA from the gel slices using a simple and efficient manual purification method, with or without whole genome amplification and the detection method was allele-specific real-time PCR. Results: Presence or absence of the paternal mutant allele was correctly determined in all of cases and the accuracy of designed protocol was determined 100%. Conclusions: The protocol described here is very simple, inexpensive and easy to perform, but with satisfactory accuracy in detection of paternal mutations in cff-DNA. Due to the risk of fetal loss with current invasive sampling for PND, a noninvasive alternative is highly demanded in clinical setting. [ABSTRACT FROM AUTHOR]

Objective: The increased prevalence of adverse effects of altered thyroid functions in pregnancy inspired us to study the frequency of subclinical hypothyroidism (SCH) and the relationship with glycaemic control and foetal weight in pregnant females with and without gestational diabetes mellitus (GDM) in Pakistani population.Patients and Methods: Five hundred and eight pregnant females were enrolled and grouped as per the International Diabetes Association criteria into GDM (n = 208) and healthy control (n = 300). Random blood glucose (RBG), thyroid function tests, anthropometric analysis and foetal ultra sound scans were performed on all study subjects. Data were analysed using Mann-Whitney U test and Chi-square test wherever applicable. Spearman correlation and multiple regression analysis were performed. p values of <0.05 was considered significant.Results: A total of 61.5% GDM subjects depicted SCH with normal circulating T4 and T3 versus 6.0% healthy controls (p-value < 0.001). Moreover, TSH remained independently associated with RBG (r = 0.109; p < 0.05), poor glycaemic control (r = 0.227; p < 0.001) and negatively associated with foetal growth (r = -0.206; p < 0.001).Conclusion: The detection of high TSH with normal T3 and T4 in females with GDM strongly emphasises the need of thyroid screening as a routine in all antenatal clinics. [ABSTRACT FROM AUTHOR]

Objective: To compare characteristics and outcomes of women diagnosed with gestational diabetes mellitus (GDM) by the newer one-step glucose tolerance test and those diagnosed with the traditional two-step method. Research design and methods: This was a retrospective cohort study of women with GDM who delivered in 2010–2011. Data are reported as proportion or median (interquartile range) and were compared using a Chi-square, Fisher's exact or Wilcoxon rank sum test based on data type. Results: Of 235 women with GDM, 55.7% were diagnosed using the two-step method and 44.3% with the one-step method. The groups had similar demographics and GDM risk factors. The two-step method group was diagnosed with GDM one week later [27.0 (24.0–29.0) weeks versus 26.0 (24.0–28.0 weeks);p = 0.13]. The groups had similar median weight gain per week before diagnosis. After diagnosis, women in the one-step method group had significantly higher median weight gain per week [0.67 pounds/week (0.31–1.0) versus 0.56 pounds/week (0.15–0.89);p = 0.047]. In the one-step method group more women had suspected macrosomia (11.7% versus 5.3%,p = 0.07) and more neonates had a birth weight >4000 g (13.6% versus 7.5%,p = 0.13); however, these differences were not statistically significant. Other pregnancy and neonatal complications were similar. Conclusions: Women diagnosed with the one-step method gained more weight per week after GDM diagnosis and had a non-statistically significant increased risk for suspected macrosomia. Our data suggest the one-step method identifies women with at least equally high risk as the two-step method. [ABSTRACT FROM PUBLISHER]

Objective: To estimate the cost-effectiveness of fetal aneuploidy screening in the general pregnancy population using non-invasive prenatal testing (NIPT) as compared to first trimester combined screening (FTS) with serum markers and NT ultrasound.Methods: Using a decision-analytic model, we estimated the number of fetal T21, T18, and T13 cases identified prenatally, the number of invasive procedures performed, corresponding normal fetus losses, and costs of screening using FTS or NIPT with cell-free DNA (cfDNA). Modeling was based on a 4 million pregnant women cohort, which represents annual births in the U.S.Results: For the general pregnancy population, NIPT identified 15% more trisomy cases, reduced invasive procedures by 88%, and reduced iatrogenic fetal loss by 94% as compared to FTS. The cost per trisomy case identified with FTS was $497,909. At a NIPT unit, cost of $453 and below, there were cost savings as compared to FTS. Accounting for additional trisomy cases identified by NIPT, a NIPT unit cost of $665 provided the same per trisomy cost as that of FTS.Conclusions: NIPT in the general pregnancy population leads to more prenatal identification of fetal trisomy cases as compared to FTS and is more economical at a NIPT unit cost of $453. [ABSTRACT FROM AUTHOR]

Objectives: Our aim was to evaluate ultrasound findings and perinatal outcome after prenatal diagnosis of lymphangioma.Methods: This was a retrospective case series study. We searched the archives of our ultrasound database at our center for cases with the prenatal diagnosis of the lymphangioma in the period between January 2008 and November 2014. We described maternal, fetal and perinatal variables for all cases.Results: Nine fetuses with lymphangioma were identified. All cases were diagnosed during the second and third trimesters with the average gestational age of 22.6 ± 3.9 weeks. The average diameter of lymphangioma was 55.4 ± 20.1 mm at the time of diagnosis. Five fetuses (55.6%) had lymphangioma on the neck, and four fetuses (44.4%) had lymphangioma on other localizations. Normal fetal karyotype was detected in all cases. There were a total of six live births, one intrauterine death and two medical terminations of pregnancy following the diagnosis of lymphangioma. No abnormal Doppler finding or hydrops were detected in the antenatal follow-up of remaining six cases.Conclusion: The risk of chromosomal abnormalities is very low in pregnancies with isolated lymphangioma. The outcome of pregnancies with lymphangioma is generally favorable and prognosis depends on their locations and size. [ABSTRACT FROM AUTHOR]

Fetal malformations of the central nervous system are among the most common major birth defects encounter during prenatal ultrasound screening. Patients with fetal intracranial findings require further work-up for improving the accuracy of the sonographic diagnosis. We developed and advanced fetal neurosonography and related services to improve clinical care and to positively impact the fetal outcome. Currently, dedicated neurosonography in the prenatal period is not routinely offered across all prenatal diagnostic centers. We propose that dedicated neurosonography done in advanced prenatal diagnostic centers improves fetal outcomes. This is directly related to proper counseling, pediatric and neonatal involvement during the prenatal period. We present here our model of dedicated neurosonography adapted to our center in the last 4 years to improve diagnosis and better understand fetal CNS pathology. With commitment of resources and coordination of services, this model is easy to implement and benefits not only parents and babies but also provides the maternal fetal medicine fellows advanced training in fetal neurosonography. [ABSTRACT FROM PUBLISHER]

Objective: To assess the effectiveness of grey-scale and colour Doppler ultrasound (US) versus magnetic resonance imaging (MRI) for the prenatal diagnosis of placenta accreta.Methods: A prospective observational study including a total of 74 patients with placenta previa and previous uterine scar (n = 74). Grey-scale and colour Doppler US was done followed by MRI by different observers to diagnose adherent placenta. Test validity of US and MRI were calculated. Maternal morbidity and mortality were also assessed.Results: A total of 53 patients confirmed to have placenta accreta at operation. The overall sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of US was 94.34, 91.67, 96.15 and 88% compared to 96.08, 87.50, 94.23 and 91.3% for MRI, respectively. The most relevant US sign was turbulent blood flow by colour Doppler, while dark intra-placental band was the most sensitive MRI sign. Venous thromboembolism (1.3%), bladder injury (29.7%), ureteric injury (18.9%), postoperative fever (10.8%), admission to ICU (50%) and re-operation (31.1%).Conclusion: Placenta accreta can be successfully diagnosed by grey-scale and colour Doppler US. MRI would be more likely suggested for either posteriorly or laterally situated placenta previa in order to exclude placental invasion. [ABSTRACT FROM AUTHOR]

Fetal goiter is an extremely rare complication of pregnancy. Its incidence is 1 in 40 000 deliveries. Antithyroid maternal therapy is responsible for 10–15% of fetal congenital hypothyroidism and can be considered as the most frequent underlying cause for this condition. The frequency of fetal goiter that is associated with fetal hypothyroidism and normal maternal thyroid function, as in our case, is even less frequent. Fetal goiter is associated with increased rate of perinatal complications and long-term morbidity, due to peripartum complications including labor dystocia due to its mass effect, as well as neonatal airway obstruction that may lead to hypoxic-ischemic brain injury and death. We present, in this study, a case report of late antenatal fetal goiter in an euthyroid woman and a literature review of the diagnosis and treatment of these cases. [ABSTRACT FROM PUBLISHER]

Objective: To evaluate the prevalence and prenatal ultrasound detection of clubfoot in Tuscany during a period of 20 years.Methods: This is a descriptive analysis on data from the Tuscan register of congenital defects, covering a 20-year period from 1992 to 2011. The Tuscan registry of congenital defects is a population-based register for the epidemiologic surveillance of congenital anomalies. The study included all cases of pre- or postnatally diagnosed clubfoot (isolated clubfoot and cases associated with other congenital defects). Overall prevalence and pre-natal detection rates were calculated.Results: Among the 549,931 deliveries recorded in Tuscany between 1992 and 2011, 858 cases of clubfoot were registered, with a prevalence of 1.56/1000. Seventy-eight percent of cases were isolated. The detection rate was higher when the defect was associated with other anomalies compared to isolated forms. Over the study period, there was a substantial improvement in the prenatal detection of clubfoot (from 11 to 31% overall). For isolated forms, detection rate improved from 4 to 16%, and for cases associated with other congenital defects, it increased from 43 to 73%.Conclusion: Prevalence of clubfoot in Tuscany is 1.56 per 1000 births, in agreement with the incidence reported in epidemiological studies in Europe. Prenatal detection of clubfoot improved over time. The detection rate was higher in cases associated with other anomalies. [ABSTRACT FROM AUTHOR]

Umbilical arteriovenous malformation (AVM) is a rare congenital malformation. We report a case of umbilical AVM that was prenatally diagnosed by further color Doppler ultrasonography because of fetal cardiomegaly. At 35 weeks gestation, a male newborn was delivered by emergent cesarean section because of rapid progress of cardiomegaly and breech presentation. Three-dimensional reconstructed computed tomography after birth demonstrated the shunt was spontaneously closed. This is the first case report of umbilical AVM, which was prenatally diagnosed, and the boy was successfully delivered, suggesting that, when fetal cardiomegaly is identified, umbilical AVM must be taken into consideration. [ABSTRACT FROM AUTHOR]

Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal Diagnosis Center of AOU Federico II and we discuss the role of the screening for beta-thalassemia (BT), cystic fibrosis (CF) and for other rare genetic disorders. Materials and Methods: We analyzed retrospectively the indication for Prenatal Diagnosis (PD) of all the couples referred to our center from January 1993 to May 2013. We divided our sample into three groups: couples at high risk for BT, for CF and for other rare genetic disorders. Results: From January 1993 to May 2013, we performed 1269 PD for genetic disorders. There are still couples who discovered to be carriers of BT by screening after the birth of the affected child ( n = 51 (11,3%)); the majority of the people were screened for CF carrier after the birth of an affected child ( n = 155 (80,7%)) or through the cascade screening ( n = 28 (14,6%)). Large-scale screenings for rare genetic conditions are not available and people were screened only if they have a positive familial history. Conclusion: Parental screening is available for many severe and rare diseases whose genetic origin is known. The proportion of patients referred for very high-risk indications increased over time with an higher demand for rare disease. An adequate counseling is fundamental to identify women at risk for having affected child. Screening, counseling and PD of genetic diseases is a complex matter and needs for a continuous update. [ABSTRACT FROM AUTHOR]

Objective: To evaluate emotional distress, depression and quality of life in parents of infants with severe congenital heart disease (CHD) during their first hospitalization. Methods: A pilot study for 38 parental couples of infants with CHD hospitalized within the 3 months of life. Parents filled up three self-administered questionnaires. We compared differences in the variables measuring emotional distress, depression and quality of life between mothers and fathers, and between prenatal and postnatal diagnosis. Results: Stress and depression levels were significantly higher in mothers than in fathers (stress: 81.8% mothers versus 60.6% fathers; depression: 45.7% mothers versus 20.0% fathers). No difference were found between prenatal and postnatal groups in any field tested but, in percentage, mothers receiving prenatal diagnosis were more depressed, whereas those receiving postnatal diagnosis were more stressed. Fathers showed same tendency. Conclusions: Parents of newborns with severe CHD, especially mothers, need psychological support during their child's hospitalization. Parents of children diagnosed prenatally may need counseling throughout pregnancy to help them recover from the loss of the imagined healthy child. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the feasibility of live xPlane imaging visualizing the in-plane view of IVS in the screening of the fetal conotruncal anomalies. Method: One hundred and fifty-two consecutive normal singleton fetuses and forty-eight fetal cardiac defects (27 conotruncal and 21 non-conotruncal cases), were enrolled in this study. The in-plane view of IVS was firstly acquired with live xPlane imaging and then judged whether it is normal or not by one operator. The focus was put on observing the relationship of pulmonary artery and aorta. The comparison between conotruncal and non-conotruncal anomalies in demonstrating the relationship of pulmonary artery and aorta was performed. Result: There were 27 cases of conotruncal anomalies enrolled in this study and 19 cases (70.4%) had the abnormal relationship of aorta and pulmonary artery in the in-plane view of IVS. In 21 cases of non-conotruncal CHDs, however, there were only 5 cases (23.8%) had the abnormal relationship in the in-plane view of IVS ( p < 0.001). Conclusion: Live xPlane imaging of the in-plane view of IVS is feasible to detect the fetal conotruncal anomalies, which may potentially be a useful tool for the non-experienced operators to screen the fetal conotruncal anomalies. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by degeneration of α motor neurons in the spinal cord anterior horns. This degeneration can lead to progressive atrophy of proximal muscles, weakness, respiratory failure and death in severe cases. SMA is the most common neuromuscular disease of childhood and one of the main causes of infant death, with no cure in sight. This review highlights the impact of the disease in families, summarizes genetics and ultrasound advances, discusses how obstetricians can work towards its early detection and explores the options for reproductive planning. [ABSTRACT FROM AUTHOR]

Objective: To study whether pregnant women would like to be informed if sex chromosomal abnormalities (SCA) were suspected with the non-invasive prenatal diagnosis of fetal Down syndrome (the NIFTY) test. Methods: Two hundred and one patients carried a singleton pregnancy requesting the NIFTY test were invited to give their preferences if there was suspicion of SCA by the NIFTY test. Results: Over 93.5% were ethnic Chinese, with a mean age of 36. Prior Down screening was positive in 66 (32.8%). Over 50% of subjects considered SCA to be better in terms of disability compared to Down syndrome, and only 5.2% considered SCA to be worse. Yet, the majority (198, 98.5%) indicated that they wanted to be informed if there was suspicion of SCA. Of whom 34.8% would have an amniocentesis for confirmation, while 57.1% were not certain, indicating the possibility of accepting these conditions. Conclusion: Besides screening Down syndrome by NIFTY, most pregnant women would also like to be informed if there was suspicion of SCA. Those screened positive should be counseled by those with experience in genetics to avoid unnecessary pregnancy termination. [ABSTRACT FROM AUTHOR]