Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies.

AIM: To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. METHOD: A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies. MRI-Trio concordance was defined as at least one abnormal brain feature identified with similarity in the fetus and the parents. The live-born children were assessed postnatally through either neurodevelopmental evaluations or telephone interviews. RESULTS: Sixty pregnancies were included (41.7% with concordant and 58.3% with discordant MRI-Trio). Forty-two children were born (70%) and 17 pregnancies were terminated (28.3%). One case of in utero fetal death (1.7%) was reported. The most common brain findings were multiple anomalies (n = 26, 43.3%), isolated disorders of the corpus callosum (n = 17, 28.3%), atypical periventricular pseudocysts (n = 6, 10%), and anomalies of the anterior complex (n = 4, 6.7%). MRI-Trio enabled better prognostication. When MRI-Trio was concordant, counselling was more favourable (n = 22, 36.6%) and the majority of live-born children exhibited typical development (p < 0.001). INTERPRETATION: MRI-Trio is a valuable tool for identifying dominantly inherited brain anomalies that may not hold developmental significance or are associated with favourable outcomes, acknowledging the potential for variable penetrance, which may result in more severe presentations. Concordant MRI-Trio findings can enhance the accuracy of prenatal counselling, potentially reducing the incidence of termination of pregnancy.

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Hydrocephalus is rarely described in Joubert-Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medical literature for the association of ventriculomegaly/hydrocephalus (VM/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6 years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis. WHAT THIS PAPER ADDS: The association of fetal hydrocephalus with Joubert-Boltshauser syndrome (JBTS) is very rare but not a chance association. This association represents a new phenotypic subtype of JBTS possibly linked to specific genes or variants.

Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.

OBJECTIVE: To develop novel fetal reference ranges for the characterization of the normal appearance of the Sylvian fissures (SF) along gestation and to apply them to fetuses with cortical abnormalities affecting the SF. METHODS: In this cross-sectional study, we used three-dimensional sonographic multiplanar reformatting (3D-MPR) to examine the fetal SF. Normal development was assessed in the second and third trimesters. SF parameters were evaluated in predefined axial and coronal planes: insular height and length, SF depth, and the extent of the coverage of the insula by the frontal and temporal lobes. Intra-observer variability and inter-rater reliability for the studied parameters were evaluated. The new reference charts were applied to 19 fetuses with cortical abnormalities involving the SF who had appropriate sonographic volumes for 3D-MPR analysis. Their diagnoses were confirmed by autopsy, fetal or postnatal MRI, genetic findings related to cortical malformations, or an abnormal cortical imaging pattern with similar MRI findings in an affected sibling. We applied the two previously published references for the evaluation of fetal SF development to these cases and compared the ability of the references to correctly detect SF abnormalities. RESULTS: The study included 189 fetuses of low-risk singleton pregnancies between 24 and 34 gestational weeks. The insular length or height increased with gestational age in the axial and coronal planes with adjusted R2  = 0.621, p < 0.0001 and R2  = 0.384, p < 0.0001, respectively. The SF depth also increased with gestational age in the axial and coronal planes with adjusted R2  = 0.695, p < 0.0001 and R2  = 0.219, p = 0.008, respectively. The extent of the coverage of the insula by the frontal and temporal lobes in the coronal plane increased with gestational age (adjusted R2  = 0.627, p < 0.0001 and R2  = 0.589, p < 0.0001, respectively). The interclass correlation coefficients of the intra- and inter-rater reliability of the studied parameters ranged between 0.71 and 0.97. The cortical anomalies in the 19 fetuses were polymicrogyria (7), simplified gyral pattern (3), dysgyria (3), lissencephaly (2), cortical malformation related to tubulinopathy (1), brain atrophy (1), cortical dysplasia (1), and cobblestone malformation (1). Three of the fetuses had multiple cortical anomalies. In 17 of 19 (89%) cases, at least one of our 6 SF parameters was found to be out of the normal range. In the coronal plane, SF height and depth were measured below 2SD in 9 (47%) and 4 (21%) cases, respectively. In the axial plane, SF length and depth were out of the normal ranges in six (31.5%) and four (21%), correspondingly. In the coronal plane, the opercular coverage by the frontal and temporal lobes was below 2 SD in 10 (52%) and 11 (57%), respectively. The scoring of the SF operculization by Quarello et al. was abnormal in 8 cases (42%). The measurement of the SF angle according to Poon et al. was abnormal in 14 cases (74%). CONCLUSIONS: The fetal SF is a complex developing structure that can be reliably characterized by sonographic parameters. One abnormal parameter is sufficient to raise the suspicion of SF malformation. Our new SF parameters might facilitate the detection of prenatal cortical abnormalities affecting the SF.

The effect of watching an informational video prior amniocentesis on maternal anxiety: a randomized controlled trail.

PURPOSE: This randomized controlled trial aimed to ascertain the effect of a pre-procedure informational video on anxiety, pain perception, and satisfaction levels in patients undergoing amniocentesis. METHODS: Patients were randomized into two groups: a video group who watched an informational video prior to the procedure, and a control group who received standard care. Anxiety was gauged both pre- and post-procedure via the State-Trait Anxiety Inventory (STAI) score. Post-procedure, patients' perceived pain, anxiety, and satisfaction levels were evaluated using the Visual Analog Scale questionnaire (VAS). RESULTS: Of 110 randomized patients, 100 completed the study and were included in the final analysis. No significant difference was noted in overall anxiety levels between the study and control groups. However, in-procedure anxiety was significantly lower in the video group compared to the control group (p = 0.04). Among patients undergoing amniocentesis for the first time, the subgroup analysis revealed reduced levels of anxiety during the procedure and diminished pain 10 min after the procedure in the video group compared to the control group. (p = 0.041 and p = 0.025, respectively). CONCLUSION: A pre-procedural informational video could help in alleviating anxiety and mitigating pain during amniocentesis. CLINICAL TRIAL REGISTRATION: The study was registered at 27.3.2022 in clinical-trials.gov (identifier NCT05463549).

Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors.

OBJECTIVE: The purpose of this study was to establish prognostic factors in fetuses diagnosed with periventricular pseudocysts (PVPCs) without known congenital infection, between 28 and 37 weeks of gestation. METHODS: This retrospective study included cases of fetal PVPC from 2008 to 2018. PVPCs were classified according to location, number, extension, morphology, and size. Additional findings, MRI and genetic studies were recorded. Pregnancy outcome, postnatal, or postmortem results were obtained. Images from patients with normal (Group 1) and abnormal postnatal development (Group 2) were compared for analysis of factors predictive of outcome. RESULTS: One-hundred and fifteen pseudocysts were observed in 59 patients. In 34 fetuses (57%), the PVPC was an isolated finding. Thirty-nine patients delivered live newborns, 27% opted for termination of pregnancy, and 4 patients were lost to follow-up. Eighty-four percent of the liveborns had normal development. When assessing for the influence of pseudocyst characteristics, a wide CSP, or large head circumference, neither of these affected the outcome. The presence of additional anomalies was the only positive predictor for abnormal development regradless of specific PVPC characteristics (P = .002). CONCLUSIONS: In fetuses with PVPCs, the presence of additional anomalies was the only predictor for adverse postnatal outcome. No association between cystic characteristics and adverse outcome was observed.

Bovine aortic arch: Prevalence in human fetuses.

OBJECTIVE: "Bovine aortic arch" is the second most common variant of aortic arch branching, in which only two branches originate directly from the aorta. The prevalence of this condition has been reported in different studies to be around 6% in human fetuses and 11-27% in the adult population. In this study, we describe the prevalence of bovine aortic arch in fetuses, and assess the prevalence of concomitant fetal anomalies. METHODS: A retrospective analysis of 417 fetuses between 15-40 weeks of gestation. Data regarding branching of the fetal aortic arch and other fetal anomalies were collected by fetal echocardiography and/or fetal ultrasonography. RESULTS: A bovine arch was found in 20/413 fetuses (4.8%, 95CI 3.1-7.3%), of whom 14/310 (4.5%) had no fetal anomalies, and 6/77 (7.8%) exhibited minor changes (P = .241). None of the 26 fetuses with major anomalies had a bovine arch. CONCLUSION: Fetuses in this study had a lower prevalence of bovine aortic arch than that previously reported in adults, most probably due to differences in the population examined. This study was underpowered to determine that bovine arch is a common anatomic variant, and is not associated with fetal anomalies.

The association between severe fetal congenital heart defects and placental vascular malperfusion lesions.

OBJECTIVE: Studies have shown an association between infant with congenital heart defects (CHD) and the risk of preeclampsia. We aimed to characterize placental histopathology from pregnancies who underwent termination of pregnancy (TOP) because of severe CHD. METHODS: This was a case control study. The medical files of all TOPs due to fetal congenital malformations were reviewed. Cases with CHD included hypoplastic left heart, transposition of great arteries, AV canal, tetralogy of Fallot, double outlet RV, and coractation of aorta. The controls included TOPs due to congenital central nervous system defects (CNS group) that were matched in a 1:1 ratio, by gestational age and maternal age. Placental lesions were classified to maternal and fetal vascular malperfusion (MVM and FVM) and inflammatory lesions. RESULTS: Higher rates of any MVM or FVM lesion were observed in placentas from the CHD group (n = 32) as compared with the CNS group (n = 32), 40.6% versus 12.5% respectively, p = .02. As compared with the CNS group, the CHD group had more abnormal coiling of umbilical cord (p = .01). CONCLUSION: Placental vascular malperfusion lesions are more common in pregnancies complicated with CHD as compared with CNS malformations. These findings support the hypothesis of similar etiopathogenetic factors, contributing to the development of preeclampsia and CHD.

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter.

OBJECTIVE: To construct prenatal age-specific reference intervals for sonographic measurements of the optic nerve sheath diameter (ONSD) during gestation in normal fetuses. MATERIALS AND METHODS: Prospective cross-sectional study of fetuses assessed in antenatal ultrasound units between 2010 and 2014. The examination was based on a technique for the sonographic assessment of ONSD previously published by our group. The mean values and SDs of the ONSD were modeled as a function of the gestational week by curve estimation analysis based on the highest adjusted R2 coefficient. Repeatability tests were performed to assess intraobserver variability and interobserver agreement. RESULTS: During the study period 364 healthy fetuses were enrolled. The mean values for the ONSD varied from 0.6 mm at 15-16 weeks to 2.8 mm at 37-38 weeks. The ONSD grows in a linear fashion throughout gestation, with a quadratic equation providing an optimal fit to the data (adjusted R2 = 0.957). CONCLUSION: Sonographic age-specific references for the fetal ONSD are presented. This data may assist in the decision-making process in fetuses with a suspected increase in intracranial pressure, or anomalies affecting the development of optic stalks, such as optic hypoplasia and septo-optic dysplasia.

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.

OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal. CONCLUSIONS: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis.

Short-Term Perinatal Outcome among Term Infants with Prenatal Diagnosis of Large Abdominal Circumference.

Background Measuring fetal abdominal circumference (AC) prenatally is an effective tool for predicting neonatal weight and macrosomia. Data are lacking regarding the outcome of newborn infants with prenatal diagnosis of large AC. Aim The aim of this study was to evaluate early short-term neonatal outcome among term singleton newborn infants with prenatal diagnosis of large AC. Methods Retrospective data were collected on 501 term infants with prenatal diagnosis of large AC (≥ 360 mm) and on matched controls, including information on maternal condition and on infant perinatal complications. Results In compare with controls, the study group had higher incidence of macrosomia (188 [37.5%] vs. 18 [3.6%], p < 0.001), hypoglycemia (48 (9.6%) vs. 25 [5%], p = 0.007), and significant morbidity (49 [9.8%] vs. 28 [5.6%], p = 0.017) but without increased incidence of congenital malformations or other perinatal complications. Only among the macrosomic, study subgroup and their controls differences were recorded including hypoglycemia (17.6 vs. 4.8%, p < 0.001), need for oral glucose (11.2 vs. 2.7%, p = 0.002), significant morbidity (10.1 vs. 3.7%, p = 0.024), and hospitalization in special care unit (11.7 vs. 4.3%, p = 0.012). Conclusion Prelabor diagnosis of large AC mostly reflects the infant's high birth weight and macrosomia with the associated perinatal complications. Large AC by itself was not predictive of any congenital malformations or perinatal and postnatal complications.

Familial Brain Periventricular Pseudocysts.

INTRODUCTION: We report the rare finding of recurrent periventricular pseudocysts (PVPC) in consecutive pregnancies in 4 families and their postnatal outcome. MATERIALS AND METHODS: We reviewed the databases of 3 large ultrasound units searching for the diagnosis of PVPC in 2 pregnancies of the same patient. RESULTS: The first case of recurrent PVPC was diagnosed in 2011 and since then 3 additional families were diagnosed (8 cases of PVPC all in all). All fetuses underwent fetal MRI that confirmed the presence of frontal or frontocaudal PVPC. Amniocentesis, when performed, demonstrated a normal karyotype. Termination of pregnancy was carried out in 2 pregnancies in 2 of 4 families. The remaining 6 pregnancies ended with a term delivery, and to date all babies are developing normally. CONCLUSION: The rare finding of recurrent brain PVPC in consecutive pregnancies raises the possibility of a hereditary etiology as opposed to a sporadic event. As in isolated PVPC, frontocaudal 'familial PVPC' appears to carry a favorable prognosis.

Three-dimensional ultrasonographic depiction of fetal brain blood vessels.

OBJECTIVE: The objective of this study is to evaluate the fetal cerebral vasculature by three-dimensional (3D) ultrasonography and Doppler technologies in normal fetuses and to describe a systematic method for analysis of volume data sets. METHODS: 3D volumes of the fetal brain were acquired prospectively in 25 patients between 12.3 and 36.3 weeks' gestation. Volumes were acquired with high-definition Doppler flow. The feasibility of identifying the fetal cerebral blood vessels and venous sinuses was analyzed. RESULTS: A step-by-step systematic approach to identify the cerebral vasculature from ultrasonographic volume data sets was developed. The volumes were rotated into a standard anatomic orientation in the multiplanar display, and then, by systematic navigation, the vessels were demonstrated. Arteries of the circle of Willis, basilar artery, pericallosal artery, and internal carotid arteries were demonstrated in more than half of the fetuses. Tiny vessels such as those that supply the cerebellum and those that branch from the pericallosal artery were demonstrated in less than 50% of the volumes. CONCLUSIONS: The essential fetal cerebral vessels can be visualized by 3D volume analysis. Systematic analysis enables identification of the fetal brain arteries, veins, and sinuses and provides knowledge about anatomical variations and the diversity of human anatomy. © 2016 John Wiley & Sons, Ltd.

The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.

INTRODUCTION: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the 'brain shadowing sign' (BSS) as a novel sonographic marker for craniosynostosis. SUBJECTS AND METHODS: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings. RESULTS: The BSS was clearly depicted in all 24 cases on the first analysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations. DISCUSSION: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted.

Measuring the perimeter and area of the Sylvian fissure in fetal brain during normal pregnancies using 3-dimensional ultrasound.

OBJECTIVES: The purpose of this study was to demonstrate the normal perimeter and area of the three orthogonal planes (axial, sagittal and coronal) of the fetal Sylvian fissure along pregnancy using 3-dimensional (3D) ultrasound. METHODS: Ultrasound volumes of fetal head were acquired prospectively in 55 fetuses between 12 and 33 gestational weeks. All volumes were analyzed offline by two examiners separately. The largest axial, sagittal and coronal planes of the Sylvian fissure were identified, and the area and perimeter were measured. RESULTS: Measurements of the Sylvian fissure were demonstrated in 54 out of 55 volumes (98%). In all three planes, a linear growth was demonstrated along gestation. All measurements significantly correlated to gestational age and head circumference (p < 0.01). The Sylvian fissure was found to grow asymmetrically, more at the anterior-posterior direction than laterally or to the inferior-superior directions. CONCLUSIONS: The Sylvian fissure grows linearly and has a distinct form in each developmental stage. The fissure is identifiable and measurable as early as 12 weeks gestation.

Retrospective analysis of prenatal ultrasound of children with Hirschsprung disease.

OBJECTIVE: Hirschsprung disease (HD) is a rare gastrointestinal disorder. Our aim was to study the prenatal ultrasound findings of children who were diagnosed with HD after birth. METHODS: The study population included children who suffered from HD between 1990 and 2008. Data of anomaly scan findings in prenatal ultrasound, demographic and post-natal physical abnormalities and treatment were retrieved from medical files and interviews with the parents. RESULTS: Twenty-two patients confirmed histopathological diagnosis of HD at age of 1 day to 15 months. Nineteen fetuses had anomaly scan during pregnancy, which revealed minor sonographic abnormalities in three fetuses; two of them had hyperechogenic bowel. One fetus with hyperechogenic bowel had polyhydramnion, and another had a family history of three brothers with HD. A third fetus had dilated pelvic kidney. None of them had sonographic evidence of bowel dilatation. After birth, six patients (31%) were found to have other structural anomalies: ventriculoseptal defect, atriseptal defect, atrio-ventricular septal defect, and pyloric stenosis. CONCLUSIONS: Abnormal sonographic findings of fetal bowel are absent in the vast majority of fetuses who are diagnosed with HD after birth. In women with a family history of HD, a third trimester anomaly scan may be warranted.

Fetal thymus volume estimation by virtual organ computer-aided analysis in normal pregnancies.

OBJECTIVES: The thymus has a pyramidal shape, which is best shown in coronal planes. The aim of this study was to evaluate the potential of virtual organ computer-aided analysis to estimate fetal thymus volume in normal pregnancies. METHODS: Three-dimensional volume data sets from the axial upper mediastinal section were acquired from 37 normal pregnancies between 12 and 35 weeks' gestation. Thymus volume was calculated by virtual organ computer-aided analysis by 2 separate examiners. In 12 cases, volumes were also acquired with 4-dimensional sonography and spatiotemporal image correlation software to assess the variability in thymus size between the systolic and diastolic periods of fetal heart motion. Linear regression analysis was used to assess the relationship between the fetal thymus volume and gestational age. Paired Student t tests were used to evaluate both the level of agreement for interobserver and intraobserver variability and the difference between diastolic and systolic thymus volumes. RESULTS: Identification of the borders of the thymus and calculation of its volume were successful in 28 patients (77.7%). Statistically significant linear growth of the thymus during pregnancy, from 12 to 35 weeks, was found. The growth coefficient for each gestational age was 0.43 (95% confidence interval, 0.355 to 0.504; P < .001). The difference in thymus size between systole and diastole was minor (0.0798 cm(3); 95% confidence interval, -0.044 to 0.203 cm(3)). Interobserver and intraobserver variability was not statistically significant. CONCLUSIONS: Although the thymus has a complex shape, it was possible to determine its borders and to calculate its volume by virtual organ computer-aided analysis in 77.7% of cases. Linear growth during pregnancy was found, and the minor changes during systole and diastole could be explained by condensation of the soft tissue of the thymus secondary to cardiac activity.

Feasibility of detection of the 3-vessel and trachea view using 3-dimensional sonographic volumes.

OBJECTIVES: The purpose of this study was to investigate the ability to depict the 4-chamber and 3-vessel and trachea views of the fetal heart using 3-dimensional sonography. METHODS: Three-dimensional color Doppler volumes of the fetal heart were acquired prospectively in 31 fetuses between 19 and 25 gestational weeks. The initial plane consisted of the 4-chamber view. Postprocessing included navigation within the volume solely in plane A in the caudal direction to visualize the stomach and in the cephalic direction to the plane of the 3-vessel and trachea view to visualize the pulmonary artery, the aorta, the V shape and color of the arches, the superior vena cava, and the trachea. The feasibility of showing these organs was evaluated. RESULTS: The estimated time for volume acquisition and manipulation was about 60 seconds. The detection rates for the 4-chamber view, stomach, 3-vessel view, trachea, and V sign were 100%, 93.5%, 92.0%, 77.4%, and 83.9%, respectively, with interobserver agreement of 0.76 to 1.0. CONCLUSIONS: We describe a simple technique in which a single sweep on 3-dimensional sonography starting at the level of the 4-chamber view can visualize the situs, stomach, 4-chamber view, and transverse view of the outflow tracts of the heart.

Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly.

Microcephaly is a sign, not a diagnosis. Its incidence varies widely due to the differences in the definition and the population being studied. It is strongly related to neurodevelopmental disorders. Differences in definitions and measurement techniques between fetuses and newborns pose a great challenge for the diagnosis and prognostication of fetal microcephaly. A false positive diagnosis can result (in countries where it is legal) in erroneous termination of pregnancy, where a false negative diagnosis might lead to the birth of a microcephalic newborn. Microcephaly in growth restricted fetuses deserves special attention and separate evaluation as it is an important prognostic factor, and not necessarily part of the general growth retardation. Several genetic syndromes incorporating microcephaly and intrauterine growth retardation (IUGR) are discussed. Deceleration of the head circumference (HC) growth rate even when the HC is still within normal limits might be the only clue for developing microcephaly and should be considered during fetal head growth follow up. Combining additional parameters such as a positive family history, associated anomalies, and new measurement parameters can improve prediction in about 50% of cases, and thus should be part of the prenatal workup. Advances in imaging modalities and in prenatal genetic investigation along with the emergence of new growth charts can also improve diagnostic accuracy. In this article, we review the different definitions and etiologies of fetal microcephaly, discuss difficulties in diagnosis, investigate the reasons for the low yield of prenatal diagnosis, and provide improvement suggestions. Finally, we suggest an updated algorithm that will aid in the diagnosis and management of fetal microcephaly.

Obstetric and neonatal outcomes in pregnancies complicated by placental abruption with vs. without supporting sonographic findings- A retrospective cohort study.

INTRODUCTION: Placental abruption (PA) is a major obstetric complication associated with worse maternal and neonatal outcomes. Though ultrasound findings may support the diagnosis of PA, the association of such findings to the severity of PA and maternal and neonatal outcomes is not yet clear. We aimed to assess the maternal and neonatal outcomes of PA cases with vs. without related sonographic findings. METHODS: In this retrospective cohort study, all deliveries complicated by PA between 2009 and 2022 were included. Placental histopathology, obstetric, and neonatal outcomes were compared between cases of PA with vs. without supporting sonographic findings. A composite of severe neonatal morbidity was compared between the groups, including ≥1 of the following: seizures, intraventricular hemorrhage, hypoxic-ischemic encephalopathy, periventricular leukomalacia, respiratory-distress syndrome, sepsis, anemia, blood transfusion or death. RESULTS: Of the 420 cases with PA eligible for the study, 50 patients (12 %) were in the PA with sonographic features group and 370 (88 %) were in the PA without sonographic features group. The PA with sonographic features group was characterized by significantly higher rates of prematurity (p < 0.001), severe composite adverse neonatal outcome (p < 0.01), and a composite maternal vascular malperfusion lesions in placental histopathology (p = 0.001) In multivariable regression analyses, preterm birth was independently associated with the presence of sonographic features (aOR = 8.79, 95 % CI 2.41-31.93, p < 0.001). DISCUSSION: PA with supporting sonographic features is associated with higher rates of adverse obstetric and neonatal outcomes and placental lesions. These findings emphasize the importance of sonographic evaluation for every case of PA before deciding upon management.

Sonographic assessment of fetal secondary palate between 12 and 16 weeks of gestation using three-dimensional ultrasound.

OBJECTIVE: To evaluate fetal secondary palate in fetuses at 12 to 16 weeks' gestation by three-dimensional ultrasound. METHODS: Between June 2006 and July 2008, volumes of palate were prospectively acquired in fetuses at gestational age of 12 to 16 weeks. Acquisition was performed when the fetus was facing the transducer with head extended at an angle of 30° to 40° to the ultrasound beam. Secondary palate was assessed off-line. RESULTS: Secondary palate was assessed in 45 fetuses with normal face anatomy and 4 fetuses with malformations of the face (one with retrognathia, one with retrognathia and micrognathia, one with cleft lip and one with cleft lip and primary palate). The secondary palate was visualized in 19/49 (38.7%) fetuses: in 2/49, only hard palate was demonstrated; in 6/49, only soft palate and in 11/49, both hard and soft palate were fully demonstrated. CONCLUSION: Information concerning evenness of secondary palate may be provided by three-dimensional ultrasound in 38.7% of examined fetuses at 12 to 16 weeks of gestation. This examination should be offered in pregnancies at high risk for cleft palate.