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To estimate the number of pregnancies complicated by vasa previa annually in nine developed countries, and the potential preventable stillbirths associated with undiagnosed cases. We also assessed the potential impact of universal screening for vasa previa on reducing stillbirth rates.We utilized nationally-reported birth and stillbirth data from public databases in the United States, United Kingdom, Canada, Germany, Ireland, Greece, Sweden, Portugal, and Australia. Using the annual number of births and the number and rate of stillbirths in each country, and the published incidence of vasa previa and stillbirth rates associated with the condition, we estimated the expected annual number of cases of vasa previa, those that would result in a livebirth, and the potential preventable stillbirths with and without prenatal diagnosis.There were 6,099,118 total annual births with 32,550 stillbirths, corresponding to a summary stillbirth rate of 5.34 per 1,000 pregnancies. The total expected vasa previa cases was estimated to be 5,007 (95 % CI: 3,208–7,201). The estimated number of livebirths would be 4,937 (95 % CI: 3,163–7,100) and 3,610 (95 % CI: 2,313–5,192) in pregnancies with and without a prenatal diagnosis of VP. This implies that prenatal diagnosis would potentially prevent 1,327 (95 % CI: 850–1,908) stillbirths in these countries, corresponding to a potential reduction in stillbirth rate by 4.72 % (95 % CI: 3.80–5.74) if routine screening for vasa previa was performed.Our study highlights the importance of universal screening for vasa previa and suggests that prenatal diagnosis of prevention could potentially reduce 4–5 % of stillbirths. [ABSTRACT FROM AUTHOR]

To report the outcome of fetuses with a prenatal diagnosis of congenital lung malformation (CLM) diagnosed on ultrasound by performing a comprehensive assessment of these outcomes through a systematic review and meta-analysis. CLMs are a heterogeneous group of anomalies that involve the lung parenchyma and its bronchovascular structures. Their presentation and evolution are variable, from entirely asymptomatic lesions with sonographic regression in utero to hydropic fetuses requiring fetal therapy, intrauterine death or neonatal morbidity. A systematic review was conducted in Medline, Embase and Cochrane databases including studies on fetuses with CLM diagnosed prenatally in order to report the in-utero natural history of these lesions. Thirty-nine studies (2,638 fetuses) were included in the final review. Regression/reduction in size of the lung lesion during pregnancy was reported in 31 % of cases, while its increase in 8.5 % of cases. Intra-uterine death complicated 1.5 % of pregnancies with fetal CLM, while neonatal and perinatal death were 2.2 and 3 %, respectively. Neonatal morbidity occurred in 20.6 % of newborns with CLM; 46 % had surgery, mainly elective. In fetuses with CLM and hydrops, fetal/perinatal loss occurred in 42 %. Assessment of the role of fetal therapy in improving the outcomes of pregnancies complicated by CLM was hampered by the small number of included cases and heterogeneity of type of interventions. Fetuses with CLM prenatally diagnosed have a generally favorable outcome. Conversely, there is a low quality of evidence on the actual role of fetal therapy in improving the outcome of fetuses presenting with these anomalies. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the agreement between visual and automatic methods in assessing the adequacy of fetal cardiac views obtained during second trimester ultrasonographic examination. In a prospective observational study frames of the four-chamber view left and right outflow tracts, and three-vessel trachea view were obtained from 120 consecutive singleton low-risk women undergoing second trimester ultrasound at 19–23 weeks of gestation. For each frame, the quality assessment was performed by an expert sonographer and by an artificial intelligence software (Heartassist™). The Cohen's κ coefficient was used to evaluate the agreement rates between both techniques. The number and percentage of images considered adequate visually by the expert or with Heartassist™ were similar with a percentage >87 % for all the cardiac views considered. The Cohen's κ coefficient values were for the four-chamber view 0.827 (95 % CI 0.662–0.992), 0.814 (95 % CI 0.638–0.990) for left ventricle outflow tract, 0.838 (95 % CI 0.683–0.992) and three vessel trachea view 0.866 (95 % CI 0.717–0.999), indicating a good agreement between the two techniques. Heartassist™ allows to obtain the automatic evaluation of fetal cardiac views, reached the same accuracy of expert visual assessment and has the potential to be applied in the evaluation of fetal heart during second trimester ultrasonographic screening of fetal anomalies. [ABSTRACT FROM AUTHOR]

Ventriculomegaly (VM) is defined as an enlargement of the lateral ventricles of the developing fetal brain. The diagnosis is easily made by measuring the lateral ventricle width at the level of the atrium, which is normally <10 mm. VM is defined as mild when the atrial width is 10–12 mm, moderate 12–15 mm, severe >15 mm. VM is a non-specific sonographic sign which is common to different pathological entities and genetic conditions. When no associated anomaly can be found VM is defined as isolated. Since the prognosis of fetal VM mainly depends on the presence of associated anomalies, a careful diagnostic approach is necessary to rule out CNS and extra- CNS fetal anomalies. Magnetic Resonance Imaging can be a useful diagnostic tool complementary to ultrasound in order to recognize subtle brain anomalies, particularly cortical disorders. In this review the diagnostic approach to fetal VM will be discussed starting from ultrasound screening, moving to neurosonographic and MRI examination and genetic evaluation, in order to recognize the cause of VM and offer the appropriate counselling to the parents. [ABSTRACT FROM AUTHOR]

Background: Spina bifida affects 0.5–1 in 1000 pregnancies in the United States and is often diagnosed in the mid-second trimester. The objective of the study was to directly compare ultrasounds (US) and magnetic resonance imaging (MRI) obtained in the antenatal period in the diagnosis and localization of fetal myelomeningocele (MMC) and compare these with the postnatal outcomes of these infants Methods: A retrospective analysis of patients referred to the Fetal Care Center at the Cleveland Clinic from 2005 to 2017. US and MRIs were obtained from the Cleveland Clinic electronic medical record. Infants were followed-up at an interdisciplinary myelomeningocele pediatrics clinic. Results: MRI and US varied in correlation with physical exam at the time of birth and surgery. While no differences were detected in demographics, pregnancy outcomes or pediatric outcomes, it was noted that the majority of patients developed neurogenic bladders irrespective of the lesion level. Conclusion: MRI is not superior to US in the diagnosis of MMC. Pregnancies complicated by MMC do not vary in morbidity, and pediatric outcomes remain similar regardless of the lesion level. This data provides additional information for the counseling of patients when faced with this antenatal diagnosis. [ABSTRACT FROM AUTHOR]

Background: Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation: We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion: Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the detection rate of severe fetal anomalies at the first-trimester screening (FTS) and, vice versa, to evaluate the follow-up of pathological results at FTS at the time of mid-trimester screening (MTS) and throughout pregnancy and delivery in a partially selected population of low-risk pregnancies. Methods: We conducted a prospective study on the detection of severe fetal anomalies at routine FTS in 9891 pregnant women with 10,294 fetuses between 11 + 0 and 13 + 6 weeks of gestation. The findings of FTS were compared to the results of MTS and pregnancy and neonatal outcomes. Only cases with severe fetal anomalies were taken for statistical analysis in this study. Results: There were 232 cases of fetal anomaly altogether. At the time of FTS, sonographic anomalies were diagnosed in 113 cases and further ultrasound controls arranged. In four cases, fetal anomaly was not confirmed by MTS; in the remaining 109 cases, the sonographic anomaly seen at FTS was confirmed at MTS and in the course of pregnancy with a resulting sensitivity for fetal malformation at FTS of 47.8%, a specificity of 99.96%, a positive predictive value of 96.5% and a negative predictive value of 98.8%. Conclusion: FTS can detect almost half of all severe fetal anomalies at an early stage of pregnancy with positive predictive values of 90% and more. Sensitivities varied depending on the organ system and reached the highest figures for anomalies of the heart, the abdomen, the spine and the skeletal system. [ABSTRACT FROM AUTHOR]

Objective: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. Design: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. Results: All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001). Conclusions: Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings. [ABSTRACT FROM AUTHOR]

Zika virus (ZIKV), first discovered in 1947, is the most recent member of the TORCH family. It usually causes an asymptomatic or mildly symptomatic disease in infected adults but can lead to severe brain abnormalities in fetuses who are infected in utero by vertical transmission of the virus through the placenta. The constellation of these fetal/neonatal abnormalities is named as congenital Zika syndrome (CZS). Although horizontal transmission of ZIKV is largely dependent on the presence of the vector (i.e. Aedes mosquitoes), women residing in non-endemic areas are still at risk of acquiring the infection once they travel to an endemic region or have unprotected sexual contact with an infected male. Therefore, it is important for physicians practicing in non-endemic regions to be familiar with the clinical and neuroimaging manifestations of CZS and to consider this diagnosis as a potential etiology for congenital microcephaly and other fetal central nervous system abnormalities. [ABSTRACT FROM AUTHOR]

Objective: The aim of the study was to assess the cervical strain pattern by an ultrasound elastography cervix examination and to determine its association with preterm delivery. Methods: In this study, 30 cases resulting in preterm birth and 30 gestational age-matched controls were included. A vaginal ultrasound examination with cervical length and elastography measurement was performed. We calculated four strain ratios (SR1-SR4) of the regions of interest (ROIs) arranged in pairs in four different positions on the anterior cervical lip. The strain ratios were correlated to the outcome of spontaneous preterm delivery. The interobserver and intra-observer variability of the strain measurement was evaluated. Results: We observed an association between the value of the strain ratio that was calculated from the ROIs placed side by side in the middle of the anterior lip (SR4), and preterm delivery (P < 0.001). The predictive values of cervical length and SR4 were comparable (AUC 0.7394; AUC 0.8322, respectively). The combination of cervical length and SR4 was superior in predicting preterm delivery compared to both parameters alone (AUC 0.8789). The interobserver and intra-observer variability of data acquisition and measurement was excellent. Conclusions: Our study assesses the cervical elastography strain pattern and shows a correlation to a spontaneous preterm birth. [ABSTRACT FROM AUTHOR]

The article discusses the study that determined the applicability of the 1984 criteria for diagnosing fetal microcephaly to a population using modern ultrasound equipment and techniques. Topics discussed include no statistically significant difference between studied populations in gestational age-specific mean head circumference, validity of 1984 ultrasound criteria for microcephaly, and options like use of ≤ standard deviations cutoff endorsed by Society for Maternal-Fetal Medicine.

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There is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of "prenatal testing" and "prenatal screening" - along with their subsets of "ultrasound testing," "ultrasound screening," "non-invasive prenatal testing," "non-invasive prenatal screening," and "prenatal diagnosis" - has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: "fetal analysis with invasive method" (FA-I) and "fetal analysis with non-invasive method," (FANI) using various techniques. This new nomenclature is designed to be precise and therefore facilitate effective communication among physicians and with pregnant women. For ease of use the new nomenclature can be formulated as an abbreviation: FA-I and FA-NI. [ABSTRACT FROM AUTHOR]

Background: Cervicofacial tumors are rarely detected by prenatal ultrasound, and prenatal counseling is very difficult as not much information is available about this problem in the literature, other than cases reports. Objectives: The aim of this study was to know if fetal echocardiography examination is helpful in those cases. Material and methods: Forty-four fetuses with cervicofacial tumors detected in utero by ultrasonography and referred to our unit were assessed and the cardiovascular profile score (CVPS) based on echocardiography examinations was calculated. The data were analyzed by the standard statistical tests and Pearson's χ²-test (significance level P=0.05). Results: CVPS<8 was diagnosed in 10 fetuses (23%). Structural or functional cardiovascular anomalies were present in 17 fetuses (39%). The statistically significant correlation between the CVPS<8 and the poor outcome was confirmed (P<0.05). Conclusion: We recommend fetal echocardiography and CVPS evaluation before counseling in fetuses with cervicofacial tumors as cardiovascular dysfunction diagnosed prenatally may seriously affect survival of the fetus as well as prenatal counseling and need for cardiac treatment. [ABSTRACT FROM AUTHOR]

Recent development of three-dimensional (3D) high definition (HD) ultrasound has resulted in remarkable progress in visualization of early embryos and fetuses in sonoembryology. The new technology of HDlive assesses both structural and functional developments in the first trimester with greater reliably than two-dimensional (2D) ultrasound. The ability to visualize not only fetal face, hands, fingers, feet, and toes, but also amniotic membranes, is better with volumetric ultrasound than 2D ultrasound. In this article, detailed and comprehensive structures of normal and abnormal fetuses depicted by 3D HDlive are presented, including various faces of Down's syndrome and holoprosencephaly, as well as low-set ear and finger/toe abnormalities from the first trimester. Three-dimensional HDlive further "humanizes" the fetus, enables detailed observation of the fetal face in the first trimester as shown in this article, and reveals that a small fetus is not more a fetus but a "person" from the first trimester. There has been an immense acceleration in understanding of early human development. The anatomy and physiology of embryonic development is a field where medicine exerts greatest impact on early pregnancy at present, and it opens fascinating aspects of embryonic differentiation. Clinical assessment of those stages of growth relies heavily on 3D/four-dimensional (4D) HDlive, one of the most promising forms of noninvasive diagnostics and embryological phenomena, once matters for textbooks are now routinely recorded with outstanding clarity. New advances deserve the adjective "breathtaking", including 4D parallel study of the structural and functional early human development. [ABSTRACT FROM AUTHOR]

Objective: Analysis of prenatally diagnosed sex chromosome aneuploidies and disorders of sex development (DSDs). Methods: This study includes a retrospective data analysis of 46 prenatally detected sex chromosome aneuploidies and one case of 46,XY DSD diagnosed during an 11-year period (2002-2012) at our department. Results: Of the 46 sex chromosome aneuploidies, 29 cases (63.0%) were in the group of a selected population of women according to abnormal first-/second-trimester ultrasound and 17 (37.0%) cases in an unselected population of women who underwent fetal karyotyping because of advanced maternal age. The most common aneuploidy was Turner syndrome in full and mosaic form (50%). Complete androgen insensitivity syndrome was diagnosed in the case of 46,XY DSD. Conclusions: Sex chromosome aneuploidies must be taken into consideration if, in the first or second trimester, abnormalities are revealed on ultrasound, mainly Turner syndrome in full or mosaic form and 47,XYY. [ABSTRACT FROM AUTHOR]

Aim: To perform a systematic review to assess the accuracy of first-trimester ultrasound (US) in the diagnoses of major structural malformations in chromosomally normal fetuses. Methods: References were obtained from the MEDLINE database, without time range limitations. For each, the risk of bias was evaluated and the important data were extracted. Only studies that used first-trimester US to diagnose major structural malformations were included. We evaluated the sensitivity of US over a low-risk unselected population of pregnant women carrying euploid fetuses. Results: A total of 19 studies were included, contributing to 126,937 fetuses and 1399 major malformations. The prevalence of lethal and severe malformations obtained was 1.2% [95% confidence interval (CI), 1.0-1.4]. Both averaged and pooled sensitivity, 50.0% (95% CI 44.1-55.9) and 45.2%, respectively, presented a moderate value for first-trimester US in the detection of structural malformations. Conclusion: Based on our analysis of the data, the average sensitivity of first-trimester US to detect structural malformations was 50%. It is our conviction that US has the potential to evolve in this role by exploiting the natural history of malformations and the development of US techniques. [ABSTRACT FROM AUTHOR]

Objective: Placenta increta or percreta is an uncommon pathology, sometimes associated with high maternal morbidity. Its prevalence increases proportionally to the number of cesarean sections. This study analyzed the changes of our management strategy to devise treatment guidelines for this uncommon disorder. Materials and methodology: Between 2005 and 2011, 10 cases of placenta increta or percreta were managed at our university hospital maternity department. Results: Among the 10 cases, seven were diagnosed prenatally. Two patients were diagnosed early, at 14 and 17 weeks of gestational age, and their pregnancies were terminated. Five had hysterectomies during the intrapartum period, and despite attempted conservative treatment for the two others, hysterectomy proved necessary 2 months postpartum because of intrauterine infections. Seven of the 10 women had hysterectomies. Conclusion: Prenatal diagnosis of placenta increta or percreta is essential to plan the delivery in a competent tertiary care center. The decision to perform a cesarean hysterectomy or leave the placenta in situ for spontaneous delivery is based on the extent of infiltration, the patient's hemodynamic status, and her desire to remain fertile. The high-risk of infection and severe hemorrhage must not be overlooked should conservative treatment be chosen. This situation requires prolonged close monitoring. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the positive predictive value of the midsagittal view of the fetal brain in recognizing the cause of ventriculomegaly diagnosed with traditional axial scan. Methods: Fifty-eight pregnant women, referred to our Center following a generic diagnosis of ventriculomegaly have been evaluated: 38 had marked and 20 had borderline ventriculomegaly. The fetal brain was scanned by the midsagittal view using a transabdominal probe in fetuses in breech presentation or transverse lie and a transvaginal probe in fetuses in cephalic presentation. The possible cause of ventriculomegaly was postulated by combining the findings of the corpus callosum/cavum septi pellucidi complex with those of the posterior fossa. The prenatal diagnoses were compared with the anatomical specimens of aborted fetuses or with postnatal neuroimaging. Results: The prenatal diagnoses were confirmed in 54/58 cases (PPV 93.1%). In the marked ventriculomegaly group, one case of partial agenesis of the corpus callosum was mistaken for a complete agenesis. In the group of borderline ventriculomegaly, two cases of partial agenesis of the corpus callosum were confused with a complete agenesis, while one case of suspected isolated ventriculomegaly was diagnosed after birth as partial agenesis of the corpus callosum. Conclusions: The sagittal scan of the fetal brain is a useful source of information and allows the contemporary view of both corpus callosum and posterior fossa, where various typical sonographic findings are present in ventriculomegaly. [ABSTRACT FROM AUTHOR]

Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign common to several pathological entities carrying different prognoses. The main causes of fetal ventriculomegaly are aqueductal stenosis, Chiari II malformation, Dandy-Walker complex and agenesis of the corpus callosum. Ventriculomegaly is easily recognized by ultrasound by measuring the atrial width. This simple measure allows the recognition of mild forms of ventricular dilatation and is used as a screening method for ventriculomegaly. However, although the diagnosis of ventriculomegaly is easy, the prenatal identification of the cause of ventricular dilatation is a more difficult task. To this end, the evaluation of the posterior fossa in association with the visualization of the corpus callosum is a useful landmark. Research into the cause of ventriculomegaly is clinically useful, since the prognosis mainly depends on the etiology and on the presence of associated anomalies. In this article the role of prenatal sonography in recognizing the cause of ventriculomegaly and the prognostic value of the prenatal sonographic findings are discussed. [ABSTRACT FROM AUTHOR]

Congenital bilateral radius aplasion is a very rare fetal anomaly, which is often conjured with other anomalies such as haematolocigal, urogenital or skeletal. If found with pancitopenia its called Fanconi anaemia, but with isolated thrombocytopenia it makes TAR syndrome. Isolated bilateral radial aplasia is extremely rare (1 in 200000 cases). Etiology of this condition is still questionable. This is a case of 32-year old patient, primipara, 27 gestational weeks with no disease history, who was sent to our clinic for further examination. Pregnancy was regularly controlled with normal prenatal tests (Double test). The ultrasound examination showed the fetus with all heart and cerebral structures were normal. Nasal bone, facial structures and upper palate were also regular, both forearms had only one deformed bone (ulna) with hands in hyperreflexed position. Upper hand, legs and feet were normal structure. In order to confirm diagnosis and to decide on further treatment, patient was presented to the Consilium for Congenital Anomalies. Patient was advised, because of severe fetal anomaly which heavily aggaviates the quality of postnatal life, to terminate the pregnancy. Feticid was done, by the approval of Ethical Comitee, and fetal blood sample was taken for futher genetical and hematological examination. After administration of prostaglandins, death fetus of female sex was born, 920 grams in weight, with visibly deformed and short both forearms and crumpled hands. Billateral radial aplasion was confirmed by X ray examination upon the birth. Fetus afterwards was sent to autopsy. Karyotype was found normal for female sex (46, XX). The goal of this rare case presentation is to show the importance of its early detection, which is archiavable by ultrasound exam, and thus enables prevention of heavy postnatal disablement. [ABSTRACT FROM AUTHOR]