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13 (a) Posterior fossa in a fetus with open spina bifida at 12 +6 weeks: no typical intracranial translucency (IT) with clear borders is identifiable; the brain stem (BS) is thickened and the distance from the posterior border of the brain stem to the occipital bone (white line), is shorter than the brain stem diameter. (b) Midsagittal view of the spine showing a small lumbosacral myelomeningocele in the same fetus.
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The authors wish to make the following corrections to this paper [1]: [...]
Citations
... The so-called butterfly sign (absence of visualization of both choroid plexus in the axial plane) was present in all cases, strengthening previous studies' results that confirmed very high sensitivity and specificity of an early diagnosis [75,76]. Facial abnormalities such as facial asymmetry, hypotelorism, central clefts, and abnormal orbits can be associated in most cases [77]. We found facial anomalies in 33.3% of the cases: proboscis and extreme hypotelorism-synophthalmia. ...
Objective:
To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton pregnant women were examined using an extended first-trimester anomaly scan (FTAS) that included the CNS assessment: the calvaria shape, the septum (falx cerebri), the aspect of the lateral ventricles, the presence of the third ventricle and aqueduct of Sylvius (AS) and the posterior brain morphometry: the fourth ventricle, namely intracranial translucency (IT), brain stem/brain stem-occipital bone ratio (BS/BSOB) and cisterna magna (CM). The spine and underlying skin were also evaluated. The cases were also followed during the second and third trimesters of pregnancy and at delivery. FTAS efficiency to detect major CNS abnormalities was calculated.
Results:
We detected 17 cases with CNS major abnormalities in a population of 1943 first-trimester (FT) fetuses, including spina bifida with myelomeningocele, exencephaly-anencephaly, holoprosencephaly, hydrocephaly, cephalocele and Dandy-Walker malformation. The CNS features in the abnormal group are presented. In the second trimester (ST), we further diagnosed cases of corpus callosum agenesis, cerebellar hypoplasia, vein of Galen aneurysm and fetal infection features (ventriculomegaly, intraventricular bands, intraventricular cyst and hyperechoic foci), all declared normal at the FTAS. During the third trimester (TT) scan we identified a massive fetal cerebral haemorrhage absent at previous investigations. We report a detection rate of 72.7% of fetal brain anomalies in the FT using the proposed CNS parameters. The sensitivity of the examination protocol was 72.7%, and the specificity was 100%.
Conclusion:
A detailed FT CNS scan is feasible and efficient. The majority of cases of major CNS abnormalities can be detected early in pregnancy. The visualization rates of the CNS parameters in the FT are great with short, if any, additional investigation time. FT cerebral disorders such as haemorrhage or infections were missed in the FT even when an extended evaluation protocol was used.
... On the contrary, if the anorectal atresia is associated with an urorectal fistula, the amniotic fluid reduces. If polyhydramnios is noted in association with anorectal atresia, this can be due to associated anomalies of other organs 15 (Figure 2). ...
... 11 Polyhydramnios (in patients with esophageal atresia), growth restriction, vertebral anomalies such as hypoplastic sacrum, sacral hemivertebrae, caudal dysgenesis, tethered cord, 35 and ambiguous genitalia 36 are other abnormal findings. 15 A dilated cloaca results in a cystic pelvic structure (megacystis) in the first trimester. Persistent cloaca with the absence of anorectal defect is termed persistent urogenital sinus which has a better prognosis. ...
Ultrasound (US) and magnetic resonance imaging (MRI) are two modalities for diagnosing fetal gastrointestinal (GI) anomalies. Ultrasound (US) is the modality of choice. MRI can be used as a complementary method. Despite its expanding utilization in central nervous system (CNS) fetal malformation, MRI has not yet been established for evaluation of fetal GI abnormalities. Therefore, more attention should be paid to the clinical implications of MRI investigations following screening by US. Timely and precise prenatal diagnoses of fetal gastrointestinal and abdominal wall anomalies have great impacts on postnatal outcomes including better planning for delivery, surgical interventions, and avoiding postnatal complications. Ultrasound (US) continues to be the modality of choice in prenatal fetal screening 1 due to its high availability, lack of radiation , and excellent spatial resolution. Nonetheless, application of US is limited by some factors such as being operator dependent, low image contrast, and maternal and fetal complications (eg, obesity , oligohydramnios, fetal position). 2 Magnetic resonance imaging (MRI) can be utilized as a supplementary tool because it has better soft tissue contrast, wider field of view and software image processing, 1 providing multi-planar image reconstruction and more detailed anatomy. Specific advantages of MRI over US in alimentary tract and abdominal wall anomalies have also been described, including better depiction of fetal GI tract, localizing the level of obstruction, showing meconium, detection of microcolon, 3,4 and evaluation of the abdominopelvic and mural extension of masses 5 providing prognostic information and better therapeutic management. 6 There are a few studies which have compared MRI and US findings of fetal GI abnormalities. 7 In the second part of this narrative review, we compare and discuss findings of antenatal sonogra-phy and MRI findings of the common anorectal, hepatic, and abdominal wall anomalies.
... Foetal thoracic hypoplasia refers to severe narrowing of the rib cage in intrauterine life. It can develop primarily as a result of the developmental defect of the thoracic skeleton (sternum and ribs) or thoracic muscles (diaphragm and intercostal muscles) (Paladini and Volpe 2014). Although it is mostly accompanied by skeletal dysplasia, it may rarely develop as a result of foetal neuromuscular diseases and bilateral pulmonary hypoplasia. ...
The aim of the current study was to determine the frequency of concomitant anomalies in foetal thoracic hypoplasia and the neonatal outcomes of these pregnancies. This retrospective study included 49 cases of foetal thoracic hypoplasia. All of the cases had skeletal system anomalies. Head and face anomalies (36.7%) were the second most frequent accompanying foetal anomaly, and the least common anomaly was genital system anomalies (4.1%). During the follow-ups, 52.6% (n = 10) of the newborns died in the first 24 h of life, 10.5% (n = 2) in the neonatal period and 36.8% (n = 7) in the infantile period.
• IMPACT STATEMENT
• What is already known on this subject? Foetal thoracic hypoplasias are lethal anomalies due to inadequate pulmonary development. Data on the other system anomalies that accompany foetuses with thoracic hypoplasia are quite limited in the literature. Moreover, even if the lethal course of thoracic hypoplasia is known, the information on how long newborns will survive is unclear.
• What do the results of this study add? In this study, most of the cases have additional anomalies, especially skeletal system and head-face anomalies. Approximately half of the newborns with thoracic hypoplasia die within the first 24 h.
• What are the implications of these findings for clinical practice and/or further research? When we need to consult a family considering the outcome of thoracic hypoplasia, this study can be guiding and helpful. On the other hand, the effects of additional anomalies on the prognosis of foetal and neonatal period are not clear. More studies are needed to better understand the prognosis of thoracic hypoplasias.
... Two axial norm neurosonography planes (SANPs), transcerebellar (TC), and trans ventricular (TV)are designed to evaluate the anatomic integrity of the brain, enabling visualization of cerebral structures [3] [4] [5] [6] Ultrasound(US) has long tradition identification of fetus brain defects. The identification rate is primarily caused by physicians lack of familiarity with pathology and complicated brain anatomy [7] [8], position of fetal head unacceptable, late or early gestational ages, maternal obesity, and the out dated appliances .To be professionals, physicians need to train for a long time. However, certain abnormalities can be difficult to detect even in specialist hands in ultrasound [9]. ...
... Two axial norm neurosonography planes (SANPs), transcerebellar (TC), and trans ventricular (TV)are designed to evaluate the anatomic integrity of the brain, enabling visualization of cerebral structures [3] [4] [5] [6] Ultrasound(US) has long tradition identification of fetus brain defects. The identification rate is primarily caused by physicians lack of familiarity with pathology and complicated brain anatomy [7] [8], position of fetal head unacceptable, late or early gestational ages, maternal obesity, and the out dated appliances .To be professionals, physicians need to train for a long time. However, certain abnormalities can be difficult to detect even in specialist hands in ultrasound [9]. ...
With the development of technology and smart devices in the medical field, the computer system has become an essential part of this development to learn devices in the medical field. One of the learning methods is deep learning (DL), which is a branch of machine learning (ML). The deep learning approach has been used in this field because it is one of the modern methods of obtaining accurate results through its algorithms, and among these algorithms that are used in this field are convolutional neural networks (CNN) and recurrent neural networks (RNN). In this paper we reviewed what have researchers have done in their researches to solve fetal problems, then summarize and carefully discuss the applications in different tasks identified for segmentation and classification of ultrasound images. Finally, this study discussed the potential challenges and directions for applying deep learning in ultrasound image analysis.
... Different anomalies and chromosomal and non-chromosomal syndromes can be accompanied by CNS anomaly subgroups (10)(11)(12). Their frequency and prognostic effects differ according to the anomalies (13). We identified 28 fetuses with extra structural abnormalities outside the CNS in our series (out of the total number of patients, including those in both termination and delivery groups). ...
Objective:Our goal was to highlight the prenatal diagnosis and management of central nervous system (CNS) anomalies through sharing our clinic’s experience.Material and Methods:We evaluated prenatal findings and postnatal outcomes of neonates who had a CNS anomaly diagnosis in our clinic over a ten-year period. A total of 183 cases with various CNS anomalies were included in the study. Birth or termination preferences of mothers were recorded in all cases, and postnatal diagnosis concordance and prognosis after surgical procedures were evaluated in mothers who chose to continue the pregnancy.Results:The mean maternal age was 28.2±5.5 years, mean gravida was 2.2±1.3, and the mean gestational age at diagnosis was 30.5±5.5 weeks. Seventy-five out of 183 (41%) patients chose to terminate their pregnancy. Twenty babies (26.6%) in the termination of pregnancy group had additional anomalies. One hundred eight patients gave birth at our institution. The mean birth weight was 3060±647.5 g, the mean gestational week at delivery was 37.9±1.7 weeks, and mean APGAR score (5th minute) was 8.8±2.3. Four neonates died on the postpartum first day. The postnatal diagnosis of 60 of the 108 (55.5%) patients who gave birth was concordant with the prenatal diagnosis, and 32 of the 108 (29.6%) babies underwent surgical interventions.Conclusion:CNS anomalies have a broad spectrum and variable prognoses. This study highlights the limitations of prenatal diagnoses, and the need for parents to have this information in order to determine the course of their pregnancy and prepare themselves for the postnatal challenging treatment/rehabilitation process.
... [1] Despite the true incidence of CHAOS remains unknown, an incidence of 1 per 50,000 newborns is described. [2] The more common pathogenetic theory for this lesion involves a decreased blood supply during the embryogenetic period, what may affect the normal development of the trachea/larynx. ...
Congenital high airway obstruction syndrome (CHAOS) is a rare sequence due to a complete obstruction of the fetal airway that blocks the larynx or trachea, either intrinsic atresia or extrinsic compression (e.g., congenital neck mass). Despite the true incidence of CHAOS is unknown, an incidence of 1 per 50,000 newborns is described. If any obstruction occurs in the tracheobronchial airway, this secretion cannot be extricated. Because of this situation, a knock-on effect starts: the enlargement of the lungs squeezes the heart and great veins, what results in a replacement of the heart to the center of the chest becoming small and dysfunctional. Decreased venous return and the failure of cardiovascular system end in ascites and hydrops. The diaphragm planes or inverts according to the severity of the process. In case of unrecognized syndrome during the prenatal period, it usually results in stillbirth or death shortly after delivery. The overall prognosis remains fatal, and long-term medical and surgical challenges for survivors remain considerable even after overcoming fetal intervention. © 2018 Indian Journal of Radiology and Imaging | Published by Wolters Kluwer - Medknow.
... [2][3][4][5][6][7][8][9] According to Paladini differential diagnosis of intrahepatic cysts should be made with: choledocal cyst, gallbladder duplication, or biliary atresia. [11] Differential diagnosis plays a key role in ruling out other pathologies when performing fetal and infant abdominal ultrasound examinations. Depending on the dimensions of the cyst and the types of structure involved, management of the cyst may require urgent prenatal or neonatal treatment. ...
Rationale:
Antenatal diagnosis of a fetal hepatic cyst is rare. Since in most cases the lesion is treated after birth by surgery only a few reports present a complete spontaneous resolution of an antenatally diagnosed hepatic cyst.
Patient concerns:
A single hepatic cyst (1.34/1.47 cm) was diagnosed in a fetus at 36 weeks of pregnancy while mother was in labor. After an uneventful vaginal birth, a multidisciplinary evaluation of the newborn confirmed the presence of the cyst.
Diagnoses:
Single hepatic cyst INTERVENTIONS:: Passive approach; periodic ultrasound monitoring of the cyst OUTCOMES:: The latest ultrasound examination performed at 18 months of age confirmed complete resolution of the cyst. No other medical complications occurred before 18 months of age.
Lessons:
The management of such a case depends on the cyst dimensions, the types of involved structure and could require urgent prenatal or neonatal treatment. In our case a complete spontaneous resolution of the hepatic cyst was achieved before 18 months of age.
... Incidence: 1:700-1:1200 [2][3][4]. ...
... Ultrasound indings: ARPKD is characterized by kidney enlargement (>2SD above the mean for that gestational age) [4], increased echogenicity (resulting from the interference of the microcysts) [3], absent bladder, and oligoamnios (present from 16 weeks). ...
... Deinition: Multicystic dysplastic kidney (MCDK) presents with unilateral/bilateral enlarged kidneys with parenchyma replaced by multiple, noncommunicating cysts [3]. ...
... Placenta is almost completely formed by the 11 weeks of gestation, and the elementary components of the perfusion blood flow get in their position. [2,17] It should be considered that during the ultrasound imaging in the first few months, the embryo's heat dissipation mechanism is through distribution and not perfusion. [3,18] The acoustic effects of a diagnostic ultrasound imaging cause an increase in the temperature of the foetal tissue. ...
