Agenesis of the ductus venosus and fetal growth restriction: Is there a relation? A tertiary care center experience and systematic review of the literature.

An update on the antenatal diagnosis of agenesis of ductus venosus (ADV) by differentiating the various possible types of shunts, focusing on the associated fetal anomalies, and predicting neonatal outcomes. This study reviewed the experience of two tertiary referral centers and literature. An unfavorable outcome was detected in preterm fetuses (p = 0.017), fetuses with a genetic anomaly (p = 0.046) or other associated malformations (p < 0.001). 71% of ADVs with other anomalies had an extrahepatic ADV (p = 0.002). 76% of fetuses with Fetal Growth Restriction (FGR) had an extrahepatic ADV (p = 0.025). ADV may negatively influence fetal growth in cases with extrahepatic vein drainage.

Simulator, machine learning, and artificial intelligence: Time has come to assist prenatal ultrasound diagnosis.

In this Commentary authors investigated and extended the role of simulator in assisting obstetric sonographers in training program. The interconnection of different digitalized technologies such as digital data, artificial neuronal and convolutional networks, machine and deep learning, telemedicine, and output are discussed and contribute to the generation of artificial intelligence.

3D ultrasound angioscan with MV-Flow™: Enhancing fetal brain low-flow microvascular neuroimaging.

MVFlow™ is a 3D algorithm that enhances the study of the microvasculature, useful in the study of tumoral lesions or in assessing the slow-flow of the placenta vessels and the developing fetal brain. It may improve the study of the corpus callosum in normal fetuses and be applied in the characterization of brain pathologies.

Basic sonographic examination of the fetal brain at 11-13 weeks' gestation: Rationale for a simple and reliable four-step technique.

The widespread incorporation of first-trimester scanning between 11 and 13 weeks' gestation has shifted from the screening of chromosomal abnormalities, mainly by measuring nuchal translucency thickness and visualization of the nasal bone, to a more detailed study of the fetal anatomy leading to early detection of several structural congenital anomalies. This goal can be improved by the routine and focused sonographic assessment of specific anatomic planes and the identification of distinctive landmarks that can help disclosing a particular, non-evident condition. In this article we present the basis for a basic, early examination of the fetal brain during screening using a four-step technique, which can be readily incorporated during the first-trimester scan. The technique includes the focused visualization of the cranial contour, choroid plexuses of the lateral ventricles and midline, aqueduct of Sylvius, brainstem, fourth ventricle, and the choroid plexus of the fourth ventricle. The rationale for this approach is presented and discussed.

Ultrasound and fetal magnetic resonance imaging: Clinical performance in the prenatal diagnosis of orofacial clefts and mandibular abnormalities.

Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at-risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second-line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.

Heterotaxy Syndrome with Increased Nuchal Translucency and Normal Karyotype Associated with Complex Systemic Venous Return. Ultrasound Diagnosis with Autopsy Correlation.

Background: Prenatal ultrasound (US) detection of heterotaxy syndrome can be challenging, especially in identifying cardiovascular and associated anomalies. We present a new case of heterotaxy syndrome with anomalous systemic venous return (ASVR) fully displayed at autopsy. Case report: Left heterotaxy syndrome was diagnosed in a 19 weeks' of gestation fetus with right-sided stomach. The heart showed both ventricles with left morphology, a large ventricular septal defect, persistent left superior vena cava draining into the coronary sinus, ASVR with interrupted inferior vena cava (IVC) and azygous continuation. Autopsy dissection further identified the azygous draining into the left lower pulmonary vein (LLPV). Prenatal a-CGH on villous sampling showed 22q13.1 microduplication inherited from the father, not contributory to the phenotype. Conclusion/discussion: Heterotaxy syndrome requires US accuracy for anomaly identification, as they allow legal termination of pregnancy. Our case is unusual as IVC drained into the azygous vein and then into the LLPV.

Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology.

Background Apert syndrome is characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly. Case report: A 36-year-old mother, G2P1 underwent an ultrasound scan at 19 week's gestation. There was craniosynostosis, brachi-turricephaly and bilateral hand syndactyly. Genomic DNA from amniocentesis revealed the mutation C758C>Gp. (Pro to Arg substitution) at 252 of the exon 8 of the FGFR2 encoding for Apert syndrome. The pregnancy was terminated. Femoral chondral plate histology showed an increased interstitial matrix between bony trabeculae. Compared with normal, the trabeculae were thinner, more irregular with numerous osteoclasts suggesting abnormal bone remodeling. Hands and feet had an abrupt transition between resting and proliferating cartilage. Conclusion: Apert syndrome has increased intertrabecular matrix, thin trabeculae, increased remodeling, and irregular transition between the maturing and mineralization zones in the femur, and abnormal abrupt transition between the resting and proliferating cartilage in the fingers and toes.

Early Prenatal Diagnosis of Blakes' Pouch Cyst by 2D/3D Ultrasound with Cristal and Realistic Vue Application.

INTRODUCTION: Blake's pouch cyst (BPC) represents an abnormal development of the posterior membranous area of the fetal brain. MATERIAL AND METHODS: Two- and three-dimensional ultrasound with Cristal and Realistic Vue were used to characterized the early prenatal diagnosis. RESULTS: At 9 weeks and 5 days a ballooning in the posterior fossa and resulting in an enlarged intracranial translucency (IT) was detected by 3D ultrasound using Cristal Vue in "inversion" mode and Cristal plus Realistic Vue. In addition, an increased nuchal translucency (7 mm) due to septated cystic hygroma (SCHy) was an associated finding. Hydrops fetalis ensued and a chorionic villus sampling at 12 weeks revealed a 45,X monosomy with persisting BPC. Follow up scan were planned fortnightly. A spontaneous miscarriage occurred at 16 weeks. CONCLUSION: Three-dimensional ultrasound with Cristal and Realistic Vue aided the prenatal diagnosis of BPC in the first trimester.

TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery.

INTRODUCTION: Ablation of the acardiac twin umbilical cord in the TRAP protects the normal donor twin. MATERIALS AND METHODS: Two case descriptions, one of interstitial laser photocoagulation and one of laser umbilical cord occlusion (L-UCO) of the acardiac twin in monochorionic monoamniotic pregnancies are reported. RESULTS: L-UCO in two pregnancies with TRAP syndrome in the second trimester resulted in intrauterine fetal death in both cases after 1 month. Case 1 had no detectable cause of fetal death. Case 2 had rupture of the amniotic sac causing anhydramnios and acute chorioamnionitis. A groove on the umbilical cord of the normal twin indicated a cord stricture due to cord entanglement. CONCLUSION: Our experience confirms that the best timing and optimal treatment of MC/MA twins complicated by TRAP sequence still remains a controversial clinical issue. Cord entanglement may continue be a potential clinical risk factor for adverse perinatal outcome even after ablation therapy.

Second trimester fetal neurosonography: reconstructing cerebral midline anatomy and anomalies using a novel three-dimensional ultrasound technique.

OBJECTIVE: To describe the application of a novel 3D ultrasound reconstructing technique (OMNIVIEW) that may facilitate the evaluation of cerebral midline structures at the second trimester anatomy scan. METHODS: Fetal cerebral midline structures from 300 consecutive normal low-risk pregnant women were studied prospectively by 2D and 3D ultrasound between 19-23 weeks of gestation. All the newborn infants underwent pediatric follow-up and were considered normal up to 2 years of life. In addition, five confirmed pathologic cases were evaluated and the abnormal features using this technique are described in this clinical series. RESULTS: Off-line volume data sets displaying the corpus callosum and the cerebellar vermis anatomy were accurately reconstructed in 98.5% and 96% of cases from sagittal and axial planes, respectively. For pathological cases, an agreement rate of 0.96 and 0.91 for midsagittal and axial planes, respectively, was observed. CONCLUSIONS: This study demonstrates the feasibility of including 3D ultrasound as an adjunct technique for the evaluation of cerebral midline structures in the second trimester fetus. Future prospective studies will be necessary to evaluate if the application of this novel 3D reconstructing technique as a step forward following 2D second trimester screening scan will improve the prenatal detection of cerebral midline anomalies in the low-risk pregnant population.

A rare immature teratoma of the tela chorioidea of the third ventricle: late-onset, intrapartum ultrasound diagnosis and postnatal outcome.

We describe a previously unreported case of immature teratoma originating from the tela chorioidea of the third ventricle diagnosed during labor at term of pregnancy. Postnatal MR imaging and pediatric neurosurgery with postnatal outcome at 6 months of age are reported.

Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus.

PURPOSE: Sirenomelia is caused by atrophy of the lower extremities that is commonly associated with gastrointestinal and urogenital malformations. METHODS: Embryogenic environmental theories and systematic review of the literature are reported. RESULTS: Genetic basis of the condition has been demonstrated in the animal model. In humans, association with de novo balanced translocation has only recently been documented. CONCLUSIONS: A case of triploidy mosaic fetus with sirenomelia and posterior fossa anomaly diagnosed at first trimester using novel three-dimensional ultrasound imaging techniques is presented.

Early prenatal diagnosis of orofacial clefts: evaluation of the retronasal triangle using a new three-dimensional reslicing technique.

BACKGROUND: The role of three-dimensional ultrasound in the prenatal diagnosis of orofacial clefts is increasing in recent time. MATERIALS AND METHODS: We obtained three-dimensional data sets of the fetal face from 100 low-risk and 50 high-risk first-trimester fetuses to evaluate the offline reformatting accuracy of the retronasal triangle (RNT) using a novel reslicing technique. RESULTS: Adequate volume data sets for offline analysis were captured in 98% of cases. The RNT view was reformatted in 96% of cases by offline analysis. The secondary palate could be assessed in 93% by offline analysis and an abnormal RNT in the coronal plane was detected in 2 cases of lethal aneuploidy. The false-positive rate was 1.33% in the two studied groups. CONCLUSION: Abnormal RNT seems to be a valuable ultrasound marker for the early diagnosis of facial clefting. This novel reslicing technique has proven to be easy, fast and accurate, which suggest that this technology could be included in daily practice and integrated with other applications such as multiplanar mode and volume NT. Prospective studies are needed to confirm these promising results and to demonstrate if these diagnostic armamentarium tools will lead to a diagnostic enhancement of cleft lip and palate in early pregnancy.

Fetal Hands: A Comprehensive Review of Prenatal Assessment and Diagnosis Over the Past 40 Years.

Fetal skeletal dysplasias involving limbs and hands are rare congenital malformations. Prenatal two-dimensional ultrasound diagnosis of fetal limb defects has a sensitivity of about 30%; however, an increased detection rate may be obtained using three-dimensional (3-D) ultrasound in the rendering mode. 3-D ultrasound may be used as a complementary method providing additional information. Currently, magnetic resonance imaging (MRI), with the emergence of ultrafast imaging techniques and new sequences, allows for better diagnosis of several fetal skeletal dysplasias such as limb reduction defects and neuromuscular disorders. 3-D volumetric images from ultrasound or MRI scan data allow 3-D ultrasound reconstructions of virtual/physical models, and virtual reality can help researchers to improve our understanding of both normal and abnormal fetal limb/hand anatomy. In this article, we review the embryological development of fetal hands and their main anomalies including prenatal diagnostic methods, genetic counseling, the role of orthopedic and plastic surgery reconstruction, and new perspectives in fetal surgery.

Congenital Syphilis Presenting with Brain Abnormalities at Neuroscan: A Case Report and a Brief Literature Review.

A case of vertical transmission in a 35-year-old pregnant woman, gravida 4, para 2 with an unknown medical history of carrying primary syphilis is described. A routine 3rd trimester scan was performed at 30 + 5 weeks of pregnancy, which revealed fetal growth restriction (FGR) associated with absent fetal movement, a pathologic neuroscan characterized by cortical calcifications and ominous Doppler waveform analysis of the umbilical artery and ductus venosus. Computerized electronic fetal monitoring (EFM) showed a Class III tracing, according to the American College of Obstetricians and Gynecologists (ACOG) guidelines. An emergency C-section was performed and a female newborn weighing 1470 g was delivered. The Apgar scores were 5 and 8 at the first and fifth min, respectively. Besides the prompted obstetrical and neonatal interventions, the neonate died after 7 days. A histologic examination of the placenta revealed a chorioamnionitis at stage 1/2 and grade 2/3. The parenchyma showed diffuse delayed villous maturation, focal infarcts, and intraparenchymal hemorrhages. The decidua presented with chronic deciduitis with plasma cells. The parents declined the autopsy. Congenital syphilis is an emerging worldwide phenomenon and the multidisciplinary management of the mother and the fetus should be mandatory.