Umbilical-portal-systemic venous shunt and intrauterine growth restriction: an inquiry from a prospective study.

BACKGROUND: The investigation of the fetal umbilical-portal venous system is based on the premise that congenital anomalies of this system may be related to adverse perinatal outcomes. Several small retrospective studies have reported an association between umbilical-portal-systemic venous shunts and intrauterine growth restriction. However, the prevalence of portosystemic shunts in the fetal growth restricted population is yet to be determined. OBJECTIVE: The aims of this study were (1) to determine the prevalence of fetal umbilical-portal-systemic venous shunts in pregnancies complicated by intrauterine growth restriction and (2) to compare the perinatal and neonatal outcomes of pregnancies with intrauterine growth restriction with and without umbilical-portal-systemic venous shunts. STUDY DESIGN: This was a prospective, cross-sectional study of pregnancies diagnosed with intrauterine growth restriction, as defined by the Society for Maternal-Fetal Medicine intrauterine growth restriction guidelines. All participants underwent a detailed anomaly scan, supplemented with a targeted scan of the fetal portal system. Venous shunts were diagnosed using color Doppler mode. The perinatal outcomes of pregnancies with intrauterine growth restriction with and without umbilical-portal-systemic venous shunts were compared. RESULTS: A total of 150 cases with intrauterine growth restriction were recruited. The prevalence of umbilical-portal-systemic venous shunts in our cohort was 9.3% (n=14). When compared with the control group (intrauterine growth restriction without umbilical-portal-systemic venous shunts, n=136), the study group had a significantly lower mean gestational age at the time of intrauterine growth restriction diagnosis (29.7±5.6 vs 32.47±4.6 weeks of gestation; P=.036) and an earlier gestational age at delivery (33.50±6.0 vs 36.13±2.8; P=.005). The study group had a higher rate of fetal death (21.4% vs 0.7%; P<.001) and, accordingly, a lower rate of live births (71.4% vs 95.6%; P=.001). Additional associated fetal vascular anomalies were significantly more prevalent in the study group than in the control group (35.7% vs 4.4%; P≤.001). The rate of other associated anomalies was similar. The study group had a significantly lower rate of abnormal uterine artery Doppler indices (0% vs 40.4%; P=.011) and a higher rate of abnormal ductus venosus Doppler indices (64.3% vs 23%; P=.001). There were no cases of hypertensive disorders of pregnancy in the study group, whereas the control group had an incidence of 12.5% (P=.16). Other perinatal and neonatal outcomes were comparable. CONCLUSION: Umbilical-portal-systemic venous shunt is a relatively common finding among fetuses with growth restriction. When compared with pregnancies with intrauterine growth restriction with a normal portal system, these pregnancies complicated by intrauterine growth restriction and an umbilical-portal-systemic venous shunt are associated with a different Doppler flow pattern, an increased risk for fetal death, earlier presentation of intrauterine growth restriction, a lower gestational age at delivery, additional congenital vascular anomalies, and a lower rate of pregnancy-induced hypertensive disorders. Meticulous sonographic evaluation of the portal system should be considered in the prenatal workup of intrauterine growth restriction, as umbilical-portal-systemic venous shunts may affect perinatal outcomes.

The Fetal Liver Afferent Venous Flow Volumes in Fetuses With Appropriate for Gestational Age Birth Weight.

OBJECTIVES: The present study aimed: 1) to simultaneously investigate the relationship between blood flow volumes of the two fetal liver afferent venous systems of normally appropriate for gestational age newborns. 2) to establish the normal reference range centiles values that will serve as a basis for future investigations. METHODS: A cross-sectional, prospective study of singleton low obstetric risk pregnancies. Doppler examination included the measurement of the umbilical and the main portal vein vessels' diameters and time-averaged maximum velocity. The absolute and per kilogram of estimated fetal weight flow volumes and the ratio between the placental and portal blood volume flow were calculated from these data. RESULTS: Three hundred and sixty-three pregnant women were included in the study. The umbilical and portal flow volumes' capacity to provide blood flow per kilogram of fetal weight, in the period of maximum fetal growth, was diverse. The placental flow decreased continuously from a mean of 121.2 mL/min/kg at the 20th week of gestation to 64.1 mL/min/kg at the 38th week of gestation. Meanwhile, the portal flow volume per kilogram of fetal weight increased from 9.6 mL/min/kg at 32 weeks of gestation to 10.3 at the 38th week of gestation. This resulted in a decrease in the umbilical to portal flow volume ratio from 13.3 to 9.6 during this period. CONCLUSION: Our results indicate that in the period of maximum fetal growth, the placental/portal ratio diminishes emphasizing the portal flow's predominance with low oxygen and nutrient supply to the liver.

Fetal Micro and Macroglossia: Defining Normal Fetal Tongue Size.

OBJECTIVES: Abnormal fetal tongue size is a phenotypic feature of various syndromes including Beckwith-Wiedemann, Pierre-Robin, oromandibular limb hypoplasia, chromosomal aberrations, etc. Current data regarding normal fetal tongue size are limited. Hence, micro/macroglossia are subjectively determined. The aim of the study was to construct a contemporary fetal tongue nomogram and to assess its clinical contribution. METHODS: A prospective cross-sectional study was performed in well dated, low risk, singleton pregnancies. Fetal tongues were measured by 5 trained sonographers. Highest quality images were selected. Intra- and interobserver variability was assessed. Tongue length, width, area, and circumference 1st to 99th centiles were calculated for each gestational week. Based on the normal tongue size charts, we created a Tongue Centile Calculator. RESULTS: Over 18 months, 664 tongue measurements were performed. A cubic polynomial regression model best described the correlation between tongue size and gestational age. The correlation coefficient (r2 ) was 0.934, 0.932, 0.925, and 0.953 for tongue length, width, area, and circumference, respectively (P < .001). Intra- and interobserver variability had high interclass correlation coefficients (>0.9). Using the new charts, we were able to identify 2 cases of macroglossia, subsequently diagnosed with Beckwith-Wiedemann, and 4 cases of microglossia, 3 associated with Pierre-Robin sequence, and 1 associated with persistent buccopharyngeal membrane. CONCLUSIONS: We present novel fetal tongue size charts from 13 to 40 weeks of gestation. Clinical application of these nomograms may be beneficial in the prenatal diagnosis of syndromes or malformations associated with abnormal fetal tongue size.

Sonographic risk assessment for an unplanned operative delivery: a prospective study.

PURPOSE: To assess the value of pre-labor maternal and fetal sonographic variables to predict an unplanned operative delivery. METHODS: In this prospective study, nulliparous women were recruited at 37.0-42.0 weeks of gestation. Sonographic measurements included estimated fetal weight, maternal pubic arch angle, and the angle of progression. We performed a descriptive and comparative analysis between two outcome groups: spontaneous vaginal delivery (SVD) and unplanned operative delivery (UOD) (vacuum-assisted, forceps-assisted and cesarean deliveries). Multivariate logistic regression with ROC analysis was used to create discriminatory models for UOD. RESULTS: Among 234 patients in the study group, 175 had a spontaneous vaginal delivery and 59 an unplanned operative delivery. Maternal height and pubic arch angle (PAA) significantly correlated with UOD. Analysis of Maximum Likelihood Estimates revealed a multivariate model for the prediction of UOD, including the parameters of maternal age, maternal height, sonographic PAA, angle of progression (AOP), and estimated fetal weight, with an area under the curve of 0.7118. CONCLUSION: Sonographic parameters representing maternal pelvic configuration (PAA) and maternal-fetal interface (AOP) improve the prediction ability of pre-labor models for a UOD. These data may aid the obstetrician in the counseling process before delivery.

Congenital Aortic Vascular Ring: In-Utero Sonographic Assessment of Tracheal Patency and Postnatal Outcome.

OBJECTIVE: Congenital aortic vascular ring may present after birth with variable degrees of respiratory distress due to tracheal compression. The aim of this study was to prospectively evaluate in utero tracheal patency in correlation with postnatal outcome. METHODS: During an eight-year period, fetuses with aortic arch abnormality encircling the trachea and forming a complete ring were recruited for the study. Tracheal patency was classified as: no compression, partial compression, or complete compression. Postnatal MRI/CTangio studies were performed and outcome data was retrospectively analyzed from the medical records. RESULTS: Among the 46 fetuses recruited to the study, 38 had right aortic arch (RAA), and 8 presented with double aortic arch (DAA). In the RAA group 35 (92.1 %) of the fetuses presented no compression and 34 (97.1 %) of them were asymptomatic in the long-term follow-up. Three fetuses (7.9 %) in this group presented in utero compression: one was terminated at 16 weeks of gestation due to associated ominous findings, and the other two had mild respiratory symptoms around 12 months of age and underwent surgery with a good outcome. In the DAA group, all fetuses presented in utero with tracheal compression. Seven showed partial and one complete compression. Among the seven with partial compression, six were symptomatic and underwent surgery. The case with severe airway occlusion had emergency tube insertion in the delivery room and underwent surgery at 7 days but died from severe respiratory complications. CONCLUSION: This is the first study to evaluate in utero tracheal patency in cases with vascular ring. It allows better prenatal and postnatal workup and follow-up including potentially life-threatening respiratory failure.

The intra-hepatic umbilical-Porto-systemic venous shunt and fetal growth.

OBJECTIVE: The fetal liver circulation has an important role in fetal growth. The intra-hepatic Umbilical-Porto-Systemic Venous Shunt (IHUPSVS) causes a reduction of the umbilical blood flow to the liver and has been reported to have a restrictive effect on fetal growth. The aim of this study was to evaluate the effect of IHUPSVS on fetal growth. METHODS: We conducted a retrospective cohort study of IHUPSVS diagnosed between 2001 and 2019. IHUPSVS was defined as any abnormal communication between any branch of the portal vein and hepatic vein. Pre- and postnatal characteristics were collected from medical files and compared between cases with fetal growth restriction (FGR) and those appropriate for gestational age (AGA). RESULTS: Twenty-five fetuses were included in the study. Eighteen (72%) had last estimated fetal weight and birth weight below the 10th centile, four (16%) of them between the third and fifth centile, and 11 (44%) below the third centile. Median gestational age at delivery was lower for FGR than AGA fetuses (37 vs. 38 weeks, p = 0.034) and rate of preterm delivery was higher (38.9 vs. 14.3, P = 0.24). Four cases had associated structural anomalies (2 in each group), and two had minor genetic aberrations (1 in each group). CONCLUSIONS: Growth restriction is prevalent in fetuses with IHUPSVS, suggesting that fetal growth should be monitored. In equal measure, in cases with growth restriction, especially without other apparent cause, an intrahepatic shunt should be looked for.

The diagnostic potential of targeted imaging of the fetal pancreas.

OBJECTIVE: To report our experience with targeted scans of the fetal pancreas. METHODS: Targeted scans were performed in 16 cases referred for anatomical or genetic conditions associated with structural pancreatic malformations. RESULTS: Four fetuses were evaluated for nephromegaly and macroglossia. In three of them, the pancreas circumference was >90th percentile. Genetic testing revealed Beckwith-Wiedemann syndrome. In the fourth case, the pancreas circumference was normal; exome sequencing revealed two heterozygous ETFDH gene mutations consistent with glutaric acidemia type II. In a case referred for non-visualization of the gallbladder, the fetal pancreas was not visualized and genetic analysis revealed a mutation in the ONECUT1 gene encoding for HNF6. Targeted scan for heterotaxia revealed three cases with variable degrees of agenesis of the pancreas, one case with a normally structured right sided pancreas and one case with a normal pancreas. Cases referred following a genetic diagnosis included a case of maternal nesidioblastosis with an extremely large fetal pancreas; and five fetuses diagnosed with a TCF2 deletion all with a normal pancreas. CONCLUSIONS: Prenatal assessment of the fetal pancreas may be a significant factor in prenatal diagnosis and counselling in cases presenting with anatomical and genetic conditions reported post-natally to be associated with pancreatic structural and functional abnormalities.

Imaging of the Fetal Zygomatic Bone: A Key Role in Prenatal Diagnosis of First Branchial Arch Syndrome.

OBJECTIVES: First arch syndromes are congenital defects caused by failure of neural crest cells to migrate into the first branchial arch. First arch syndrome is classified into 2 main clinical manifestations: Treacher Collins syndrome, characterized by bilateral underdevelopment of the zygomatic bones; and Pierre Robin sequence. The aim of this study was to describe the feasibility of visualization of the fetal zygomatic bone and assess its application in cases referred for features suggestive of first arch syndrome. METHODS: A prospective cohort study was conducted. The feasibility of visualization of the zygomatic bone was performed in 50 sequential fetuses with a normal anatomic scan between 12 and 24 weeks' gestation using 3-dimensional sonography. Following this, cases referred for targeted scans for suspected first branchial arch syndrome were assessed for the presence or absence of the zygomatic bones. RESULTS: Visualization of the fetal zygomatic bone was feasible in all low-risk cases. Cases referred for targeted scans included 11 isolated cases of micrognathia or retrognathia, 3 cases of microtia, and 3 cases of auricular or facial vestiges. Within this group, the zygomatic bones were visualized in all but 2 cases. No associated extrafacial malformations were detected; therefore, this phenotype was consistent with Treacher Collins syndrome. CONCLUSIONS: Prenatal imaging of the zygomatic bones offers a clinically based sonographic approach to cases referred for features suggestive of first arch syndrome and enables differentiation between the 2 main clinical manifestations: Treacher Collins syndrome and Pierre Robin sequence.

Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcome.

OBJECTIVE: The aim of this study was to focus on fetuses diagnosed with severe hydronephrosis and correlate prenatal sonographic characteristics with postnatal outcome. METHODS: Cases presenting prenatally with severe hydronephrosis (anterior-posterior renal pelvic diameter >15 mm) were collected retrospectively over a period of 11 years and divided into 2 groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT). RESULTS: A total of 83 fetuses comprised the study group: 35 fetuses had isolated severe hydronephrosis and 48 had associated CAKUT. The mean anterior-posterior renal pelvic diameter was 22.6 ± 8.5 mm (range 15.0-66.0 mm). The CAKUT group was associated with a significantly increased incidence of postnatal need for surgery (17.6% vs 44.2%, P = .014), dysplastic kidney (0% vs 14%, P = .023), and total abnormal outcome (52.9% vs 86%, P = .001) in comparison with isolated severe prenatal hydronephrosis. CONCLUSIONS: Severe fetal hydronephrosis has a wide postnatal clinical spectrum, which is mainly influenced by the presence of associated sonographic CAKUT findings. These clinical data have biological relevance: a genetic or environmental defect that influences multiple renal developmental processes leads to hydronephrosis but also to concomitant malformations (CAKUT) and critically influences renal prognosis. A more selective abnormal developmental process that results in isolated enlarged pelvis even to a severe extent has less influence on renal prognosis.

The added value of detailed early anomaly scan in fetuses with increased nuchal translucency.

OBJECTIVE: This study aims to assess the utility of a detailed early fetal anatomy scan prior to karyotyping in the management of pregnancies with an increased nuchal translucency (NT). METHODS: The study included fetuses with NT above the 99th centile. These women were offered the option of an early detailed fetal anatomy scan prior to genetic evaluation. The presence or absence of major sonographic findings was analyzed for its predictive value for fetal aneuploidy. RESULTS: An increased NT >99th centile was detected in 43 fetuses (1.8%). Mean NT was 4.5 mm (range 3.4-9.0), and gestational age at the early fetal anatomy survey was 12.4 weeks (12-13.6). Major sonographic findings were present in 30 fetuses (69.8%); 24 of them underwent karyotyping, and it was abnormal in 14. Among the 13 fetuses without major sonographic findings, 12 had normal karyotype results, and 1 had aneuploidy, yielding a positive predictive value of 58.3% of early fetal anatomy scan for abnormal karyotype results. Multivariate logistic regression analysis showed that the presence of major sonographic findings was as an independent predictor of fetal aneuploidy (adjusted odds ratio 8.15). CONCLUSION: A detailed early anatomy scan upon detection of increased NT has an important value in the prediction of fetal aneuploidy. © 2016 John Wiley & Sons, Ltd.

The Normal Fetal Pancreas.

OBJECTIVES: The aim of the study was to assess the sonographic feasibility of measuring the fetal pancreas and its normal development throughout pregnancy. METHODS: We conducted a cross-sectional prospective study between 19 and 36 weeks' gestation. The study included singleton pregnancies with normal pregnancy follow-up. The pancreas circumference was measured. The first 90 cases were tested to assess feasibility. RESULTS: Two hundred ninety-seven fetuses of nondiabetic mothers were recruited during a 3-year period. The overall satisfactory visualization rate was 61.6%. The intraobserver and interobserver variability had high interclass correlation coefficients of of 0.964 and 0.967, respectively. A cubic polynomial regression described best the correlation of pancreas circumference with gestational age (r = 0.744; P < .001) and significant correlations also with abdominal circumference and estimated fetal weight (Pearson r = 0.829 and 0.812, respectively; P < .001). Modeled pancreas circumference percentiles for each week of gestation were calculated. During the study period, we detected 2 cases with overgrowth syndrome and 1 case with an annular pancreas. CONCLUSIONS: In this study, we assessed the feasibility of sonography for measuring the fetal pancreas and established a normal reference range for the fetal pancreas circumference throughout pregnancy. This database can be helpful when investigating fetomaternal disorders that can involve its normal development.

Prenatal Anogenital Distance Is Shorter in Fetuses With Hypospadias.

OBJECTIVES: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies. METHODS: Anogenital distance was prospectively measured in all cases referred for suspected isolated abnormal male genitalia. Final diagnoses, confirmed by a pediatric urologist, were compared with anogenital distance prenatal measurements. RESULTS: Fifty-two cases were referred for evaluation because of suspected male external genital malformation during a 12-month period. Cases with normal-appearing genitalia, associated major malformations, and early severe fetal growth restriction were excluded from the study. Postnatal examination revealed 14 cases of hypospadias in varying severity and 8 cases of a buried penis. All fetuses with hypospadias had an anogenital distance measurement below the fifth percentile. Statistical analysis revealed a significant difference between the normal mean anogenital distance for gestational age versus those with hypospadias (mean ± SD, 16.90 ± 4.08 and 11.68 ± 3.31 mm, respectively; P = .001). No significant difference was found between the normal mean anogenital distance for gestational age versus those with a buried penis (18.85 ± 2.76 and 19.46 ± 3.41 mm; P = .700). CONCLUSIONS: Fetuses with hypospadias have a statistically significant shorter anogenital distance compared with the general population. Therefore, anogenital distance may serve as a complementary objective sonographic parameter in the prenatal assessment and counseling of male external genital anomalies.

Early Diagnosis of Bladder Exstrophy: Quantitative Assessment of a Low-Inserted Umbilical Cord.

OBJECTIVES: Bladder exstrophy is a rare severe congenital malformation. Early prenatal diagnosis is scarcely described in the literature. Low insertion of the umbilical cord is a constant anatomic feature of bladder exstrophy. The aim of our study was to assess whether early measurements of the umbilical cord insertion-to-genital tubercle length may serve as quantitative measurements for a low-inserted umbilical cord in cases of bladder exstrophy. METHODS: The umbilical cord insertion-to-genital tubercle length was prospectively measured in all cases referred for a nonvisualized urinary bladder before 18 weeks' gestation. Final diagnoses were compared with prenatal measurements. RESULTS: Fifteen fetuses were evaluated for a nonvisualized bladder at a mean gestational age of 15.7 weeks (range, 14-17 weeks). Of them, 6 cases were diagnosed with bladder exstrophy, and 9 cases had a normal urinary bladder. All cases with bladder exstrophy had an umbilical cord insertion-to-genital tubercle length below the fifth percentile for gestational age, whereas cases with a normal bladder had a normal measurement. CONCLUSIONS: Fetuses with bladder exstrophy have an umbilical cord insertion-to-genital tubercle length below the fifth percentile of the general population. This measurement may serve as a complementary objective sonographic parameter in the prenatal assessment and counseling of cases suspected of having bladder exstrophy during early pregnancy.

Primary Fetal Lung Hypoplasia (PFLH): Imaging and Clinical Characteristics.

Purpose To describe in utero and postnatal imaging and clinical characteristics of primary fetal lung hypoplasia (PFLH). Methods A retrospective review of fetuses and neonates diagnosed in one academic tertiary center during an eleven-year period. Results 12 cases of PFLH were identified. 4 were bilateral and 8 had unilateral involvement. Prenatal sonographic characteristics, postnatal magnetic resonance imaging (MRI), computerized tomographic angiography (CTA), and histologic findings are described. 3 of the 4 bilateral cases were evaluated during fetal live. 2 were terminated and 2 died shortly after delivery. Among the 8 cases with unilateral PFLH, 7 involved the right lung and 1 the left lung. In fetuses with right hypoplasia, 5 showed characteristic features of Scimitar syndrome, while associated gastrointestinal tract (GIT) anomalies were presented in 2 cases. In this group 3 were born alive and the other 5 were terminated. Conclusion Primary PFLH is a rare anomaly that lethal in its bilateral form and with variable prognosis in its unilateral variant. Targeted evaluation of lung vascularity and exclusion of associated anomalies, especially of the GIT, are important prognostic factors.

Prenatal compensatory renal growth in unilateral renal agenesis.

OBJECTIVE: To create nomograms of fetal renal compensatory growth in cases of unilateral renal agenesis (URA). METHODS: A retrospective study of fetuses with isolated URA diagnosed prenatally, and confirmed postnatal was performed. RESULTS: Seventy-four fetuses with isolated solitary kidney were included in the study. A total of 134 measurements of the kidney's length were performed. Ninety five of them were studied longitudinally (2-6 measurements each). The raw values of the compensatory kidney demonstrated a significant correlation with gestational age (Pearson correlation coefficient 0.901, p < 0.001). A quadratic/cubic regression curve, both, described best this relationship, -26.400 + 3.004*GA, -0.026*GA2 (r2 = 0.819). The Z score between the mean predicted compensatory kidney's length, per week of gestation, and the mean predicted values of normal kidney length as previously published in the literature, progressively increased during pregnancy (cubic r2 = 0.946 and 0.260). CONCLUSION: Cases of URA show a unique growth pattern of the single kidney from second trimester to term. Postnatal renal function is dependent on adequate intra-uterine compensatory growth; the presented nomograms provide insight into renal prognosis and add paramount information to the multidisciplinary prenatal counseling of the future parents. © 2016 John Wiley & Sons, Ltd.

Sonographic Evaluation of the Fetal Thymus Using the Thy-Box Technique Between 13 and 16 Weeks' Gestation.

OBJECTIVES: The purposes of this study were to assess the feasibility of fetal thymus measurement between 13 and 16 weeks' gestation, to evaluate the potential difference using color Doppler sonography with the thy-box technique, and to construct normal percentile ranges. METHODS: This retrospective study included 287 healthy singleton pregnancies. The fetal thymus was shown in an axial plane of the upper mediastinum. Color Doppler imaging was applied to outline the thy-box: ie, the area between the brachiocephalic artery posteriorly and internal mammary arteries laterally. Measurements of the lateral and anteroposterior diameters of the thymus with and without color Doppler imaging were compared. RESULTS: The thymus was shown in 95% of the cases (273 of 287) between 13 and 16 weeks' gestation. The mean lateral thymus diameter ± SD with color Doppler imaging (5.30 ± 0.7 mm) was significantly longer in comparison to the measurement without color Doppler imaging (5.06 ± 0.8 mm; P < .001), whereas the anteroposterior diameter was significantly shorter (3.19 ± 0.9 versus 3.26 ± 0.8 mm; P = .044). Normal percentiles of thymus measurements for gestational age were constructed. CONCLUSIONS: The fetal thymus can be clearly and accurately shown as early as 13 weeks' gestation by using the thy-box. Measurements with color Doppler imaging were significantly different from those without and hence are preferable, as color Doppler imaging can delineate the thymus borders more accurately.

Anogenital distance in male and female fetuses at 20 to 35 weeks of gestation: centile charts and reference ranges.

OBJECTIVES: In pediatrics, anogenital distance (AGD) serves as a bioassay of normal phenotypic androgen action on the external genitalia. Recently, hypospadias and cryptorchidism were reported to be associated with reduced AGD. No normal reference ranges exist for fetuses throughout gestation. This study defines the normal centile chart of the AGD, in male and female fetuses, between 20 and 35 weeks of gestation. METHODS: Participants were low-risk pregnant women, 20 to 35 weeks of gestation. All fetuses were singleton, with normal anatomic scan and appropriate fetal biometry for gestational age. Fetal AGD was measured by transabdominal ultrasound. The perineum was assessed in the axial plane. The distance was measured from the center of the anus to the posterior convergence of the fourchette in female fetuses and to the posterior base of the scrotum in male fetuses. Statistical analysis included the construction of the normal, modeled, centile, and standard deviation range, for each gestational age. Intraobserver and interobserver variability was assessed by the interclass correlation and Bland-Altman plot. RESULTS: Adequate measurements were obtained for 218 female and 206 male fetuses. For 17 cases, measurements were not possible because of fetal lie. AGD increased linearly throughout gestational age (GA) (r(2) = 0.808) for both sexes and was expressed by the following regression equation: for male fetuses, -12.348 + 1.075*GA, and for female fetuses, -3.179 + 0.513*GA, where GA is gestational age. The normal centiles, means, and standard deviations, per week, are presented. CONCLUSION: AGD measurement in utero is feasible. These measurements assess the normality of the perineal region and may assist in the detection of genital anomalies.

Fetal isolated prominent left brachiocepalic vein: in utero natural history and neonatal outcome.

The objectives of this series were to describe the prenatal sonographic findings of a fetal isolated prominent left brachiocephalic vein with its in utero natural history and neonatal outcome and to discuss the differential diagnosis, especially with a total or partial anomalous pulmonary venous return malformation. We reviewed all cases referred to 2 tertiary medical centers with the presenting finding of a prominent, upper thorax transverse vein entering the superior vena cava. The primary suspicion of a subjective dilated left brachiocephalic vein, as a part of a supracardiac anomalous pulmonary venous return malformation, was investigated by a systematic anatomic evaluation. After exclusion of other cardiac and structural anomalies, we followed the pregnancies and their outcomes. Eight cases were recruited during a 7 year period. The mean maternal age was 31 years, and the mean gestational age at the time of diagnosis was 17 weeks. In 7 cases, the dilatation was not evident during 6 weeks of follow up. In 1 case, the dilatation was evident until delivery at 39 weeks and was not apparent on postnatal echocardiography or spiral computed tomography. All neonates developed without any heart or other complications. We conclude that after exclusion other malformations, a prominent left brachiocephalic vein is a benign transient phenomenon that does not persist post-partum in the neonate.

Caput succedaneum thickness in prolonged second stage of labour: a clinical evaluation.

BACKGROUND: Data are scarce regarding the association between the presence of caput succedaneum and the mode of delivery. AIMS: To evaluate the presence and clinical significance of caput succedaneum thickness in prolonged second stage of labour. MATERIALS AND METHODS: We conducted a prospective study of women, beyond 37 weeks of gestation, during prolonged second stage of labour. Transperineal ultrasound was performed to assess the caput succedaneum thickness. The relationships between caput succedaneum thickness, feto-maternal characteristics, delivery mode and immediate post-natal outcomes were analysed. RESULTS: Fifty-eight women, of whom 47 were nulliparas, in prolonged second stage of labour, were included in the study. The caput succedaneum thickness could be measured in all cases. Overall mean thickness was 21.9 (±4.9) mm (range 14-40 mm). No significant difference or correlation was found between caput succedaneum thickness, fetal head positions, modes of delivery, duration of second stage, head circumference or neonatal outcomes. CONCLUSIONS: Caput succedaneum is measurable in all cases at prolonged second stage using transperineal sonography. Its presence and dimensions presented in our pilot study seem to have no implication on delivery mode and neonatal outcome.

Pathologic whole exome sequencing analysis in fetuses with minor sonographic abnormal findings and normal chromosomal microarray analysis: case series.

BACKGROUND: No current data exists regarding the occurrence of pathological results when using Whole Exome Sequencing (WES) analysis in a subgroup of fetuses with minor abnormalities and normal Chromosomal Microarray Analysis (CMA) results. OBJECTIVE: Our study aimed to report our experience with in-utero WES abnormal results, found in fetuses with minor anomalies after a normal CMA result. METHODS: A retrospective study conducted in a single tertiary center, during four years, included collating data regarding fetuses with minor structural abnormalities, normal CMA results, and abnormal triple WES test results. RESULTS: Eleven fetuses were included in the study. Eight were with cardiovascular and lymphatic drainage alterations. Two fetuses developed late third-trimester macrocephaly (head circumference ≥ +2 standard deviations), and one fetus had unilateral mildly short and bowed femur bone. In seven cases (63.6%) the parents opted to terminate the pregnancy as a result of the WES analysis results. CONCLUSION: Our case series raises the possibility that fetuses with even minor structural alterations and normal CMA results can have genetic variants revealable only by WES analysis which can provide critical information regarding pregnancy management.