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1.
J Imaging ; 10(8)2024 Aug 09.
Article in English | MEDLINE | ID: mdl-39194983

ABSTRACT

Asynclitism, a misalignment of the fetal head with respect to the plane of passage through the birth canal, represents a significant obstetric challenge. High degrees of asynclitism are associated with labor dystocia, difficult operative delivery, and cesarean delivery. Despite its clinical relevance, the diagnosis of asynclitism and its influence on the outcome of labor remain matters of debate. This study analyzes the role of the degree of asynclitism (AD) in assessing labor progress and predicting labor outcome, focusing on its ability to predict intrapartum cesarean delivery (ICD) versus non-cesarean delivery. The study also aims to assess the performance of the AIDA (Artificial Intelligence Dystocia Algorithm) algorithm in integrating AD with other ultrasound parameters for predicting labor outcome. This retrospective study involved 135 full-term nulliparous patients with singleton fetuses in cephalic presentation undergoing neuraxial analgesia. Data were collected at three Italian hospitals between January 2014 and December 2020. In addition to routine digital vaginal examination, all patients underwent intrapartum ultrasound (IU) during protracted second stage of labor (greater than three hours). Four geometric parameters were measured using standard 3.5 MHz transabdominal ultrasound probes: head-to-symphysis distance (HSD), degree of asynclitism (AD), angle of progression (AoP), and midline angle (MLA). The AIDA algorithm, a machine learning-based decision support system, was used to classify patients into five classes (from 0 to 4) based on the values of the four geometric parameters and to predict labor outcome (ICD or non-ICD). Six machine learning algorithms were used: MLP (multi-layer perceptron), RF (random forest), SVM (support vector machine), XGBoost, LR (logistic regression), and DT (decision tree). Pearson's correlation was used to investigate the relationship between AD and the other parameters. A degree of asynclitism greater than 70 mm was found to be significantly associated with an increased rate of cesarean deliveries. Pearson's correlation analysis showed a weak to very weak correlation between AD and AoP (PC = 0.36, p < 0.001), AD and HSD (PC = 0.18, p < 0.05), and AD and MLA (PC = 0.14). The AIDA algorithm demonstrated high accuracy in predicting labor outcome, particularly for AIDA classes 0 and 4, with 100% agreement with physician-practiced labor outcome in two cases (RF and SVM algorithms) and slightly lower agreement with MLP. For AIDA class 3, the RF algorithm performed best, with an accuracy of 92%. AD, in combination with HSD, MLA, and AoP, plays a significant role in predicting labor dystocia and labor outcome. The AIDA algorithm, based on these four geometric parameters, has proven to be a promising decision support tool for predicting labor outcome and may help reduce the need for unnecessary cesarean deliveries, while improving maternal-fetal outcomes. Future studies with larger cohorts are needed to further validate these findings and refine the cut-off thresholds for AD and other parameters in the AIDA algorithm.

2.
Prenat Diagn ; 44(1): 68-76, 2024 01.
Article in English | MEDLINE | ID: mdl-38172082

ABSTRACT

OBJECTIVE: The aim of this study was to describe the anatomy of the portal system in fetuses with persistent right umbilical vein (PRUV). METHODS: Prospective observational study of fetuses diagnosed with PRUV. All patients underwent a comprehensive portal system anatomy scan supplemented by two-dimensional (2D) and three-dimensional (3D) color doppler modalities. RESULTS: 29 fetuses with PRUV were studied. We perceived an identical anatomical pattern in 28 fetuses. The right umbilical vein drains to the portal sinus (future right portal vein, RPV), which has a configuration of a left portal vein (LPV) in the normal left portal system, with three emerging branches: inferior (RPVi), medial (RPVm) and superior (RPVs). The RPV then courses to the left, towards the stomach to the point of the bifurcation of the main portal vein (MPV) to become the left portal vein. The LPV has an RPV configuration in a normal portal system with anterior (LPVa) and posterior (RPVp) branches. This anatomical layout mimics a mirror image of the normal anatomy of left portal system. CONCLUSION: PRUV has unique umbilical portal venous anatomy, which is a mirror image of the normal left portal system. It can be demonstrated prenatally and serve as an additional tool for prenatal diagnosis of PRUV.


Subject(s)
Abdomen , Fumarates , Stearates , Ultrasonography, Prenatal , Pregnancy , Female , Humans , Umbilical Veins/diagnostic imaging , Ultrasonography, Prenatal/methods , Prenatal Diagnosis , Portal Vein/diagnostic imaging
3.
Am J Obstet Gynecol ; 231(3): 340.e1-340.e16, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38218510

ABSTRACT

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.


Subject(s)
Fetal Growth Retardation , Portal Vein , Ultrasonography, Prenatal , Umbilical Veins , Humans , Fetal Growth Retardation/epidemiology , Fetal Growth Retardation/diagnostic imaging , Female , Pregnancy , Prospective Studies , Cross-Sectional Studies , Adult , Umbilical Veins/diagnostic imaging , Umbilical Veins/abnormalities , Portal Vein/abnormalities , Portal Vein/diagnostic imaging , Infant, Newborn , Prevalence , Ultrasonography, Doppler, Color , Gestational Age
4.
Nat Rev Dis Primers ; 9(1): 60, 2023 Nov 02.
Article in English | MEDLINE | ID: mdl-37919294

ABSTRACT

Congenital lung malformations (CLMs) are rare developmental anomalies of the lung, including congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst and isolated congenital bronchial atresia. CLMs occur in 4 out of 10,000 live births. Postnatal presentation ranges from an asymptomatic infant to respiratory failure. CLMs are typically diagnosed with antenatal ultrasonography and confirmed by chest CT angiography in the first few months of life. Although surgical treatment is the gold standard for symptomatic CLMs, a consensus on asymptomatic cases has not been reached. Resection, either thoracoscopically or through thoracotomy, minimizes the risk of local morbidity, including recurrent infections and pneumothorax, and avoids the risk of malignancies that have been associated with CPAM, bronchopulmonary sequestration and bronchogenic cyst. However, some surgeons suggest expectant management as the incidence of adverse outcomes, including malignancy, remains unknown. In either case, a planned follow-up and a proper transition to adult care are needed. The biological mechanisms through which some CLMs may trigger malignant transformation are under investigation. KRAS has already been confirmed to be somatically mutated in CPAM and other genetic susceptibilities linked to tumour development have been explored. By summarizing current progress in CLM diagnosis, management and molecular understanding we hope to highlight open questions that require urgent attention.


Subject(s)
Bronchogenic Cyst , Bronchopulmonary Sequestration , Cystic Adenomatoid Malformation of Lung, Congenital , Lung Diseases , Infant , Female , Humans , Pregnancy , Bronchogenic Cyst/diagnosis , Bronchogenic Cyst/surgery , Bronchopulmonary Sequestration/diagnosis , Bronchopulmonary Sequestration/surgery , Lung/diagnostic imaging , Lung/abnormalities , Cystic Adenomatoid Malformation of Lung, Congenital/therapy , Cystic Adenomatoid Malformation of Lung, Congenital/surgery
5.
Eur J Obstet Gynecol Reprod Biol X ; 20: 100246, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37876768

ABSTRACT

Introduction: Intrapartum ultrasound (IU) is used in the delivery ward; even if IU monitors the labouring women, it could be perceived as a discomfort and even as an" obstetric violence", because it is a young technique, not often well "accepted". A group of clinicians aimed at obtain an informed consent from patients, prior to perform a translabial ultrasound (TU). The aim of this study was to evaluate the acceptance of both translabial and transabdominal IU. Methods: In this study, performed at the University Hospital of Bari (Unit of Obstetrics and Gynecology), were enrolled 103 patients in the first or second stage of labor in singleton cephalic presentation. A statistical frequency and an association analysis were performed. As a significant result, we consider the peace of mind/satisfaction and the" obstetric violence". IU was performed both transabdominal and translabial to determine the presentation, head positions, angle of progression and head perineum distance. During the first and second stage of labor, the ASIUG questionnaires (Apulia study intrapartum ultrasonography group) were administered. Results: 74 (71, 84%) patients underwent IU and 29 had a vaginal examination (28, 15%). Significant less "violence" has been experienced with a IU (73 out 74/98, 65%) and only one person (1 /1, 35%) recorded that. On the contrary, 10 patients (10/29) perceived that "violence" (34, 48%) while 19 (65, 52%) did not respond on a similar way, after a vaginal examination (VE). More patients felt satisfaction (71 out 74/95, 95%) with the use of IU and only 3 (3/4, 05%) felt unease. A different picture was evident in the vaginal examination group. Only 17 patients (17 out 29/58, 62%) felt comfort while 12 (41, 38%) felt unease. Conclusions: In our study, IU use is well accepted by most of patients, because it could reassure women about their fetal condition. Moreover, they can see the fetus on the screen, while the obstetrician is performing the US and this is important for a visual feedback, in comparison with the classical VE.

6.
Arch Dis Child ; 108(11): 910-915, 2023 11.
Article in English | MEDLINE | ID: mdl-37474281

ABSTRACT

OBJECTIVE: Congenital intrahepatic portosystemic shunts (IHPSS) are rare vascular malformations resulting in blood bypassing the liver to the systemic circulation. Previous studies included symptomatic patients diagnosed postnatally, but the outcome of IHPSS diagnosed prenatally is rarely reported. We present a cohort of children prenatally diagnosed with IHPSS and report their natural course and outcome. METHODS AND DESIGN: This was a retrospective study of all fetal cases diagnosed by ultrasound with IHPSS between 2006 and 2019 at a single tertiary centre which were prospectively followed up at the paediatric gastroenterology unit. The postnatal outcome was compared between patients with a single versus multiple intrahepatic shunts. RESULTS: Twenty-six patients (70.3% boys) were included in the study, of them, eight (30.8%) patients had multiple intrahepatic shunts. The median gestational age at diagnosis was 29.5 weeks. Growth restriction affected 77% of the cohort. Postnatally, spontaneous shunt closure occurred in 96% of patients at a median age of 7.5 months (IQR 2.2-20 months). Failure to thrive (FTT) and mild developmental delay were observed in eight (30.8%) and seven (26.9%) patients, respectively. FTT was significantly more prevalent in patients with multiple shunts compared with patients with a single shunt (62.5% vs 16.7%, p=0.02); however, the rate of shunt closure and age at time of closure were similar between these groups. All patients survived with limited to no sequelae. CONCLUSIONS: IHPSS usually close spontaneously by 2 years of age. Children with prenatally detected IHPSS may develop FTT and mild developmental delay. Close surveillance at a paediatric gastroenterology unit may be beneficial.


Subject(s)
Portasystemic Shunt, Transjugular Intrahepatic , Vascular Malformations , Male , Child , Pregnancy , Female , Humans , Infant , Retrospective Studies , Prenatal Diagnosis , Vascular Malformations/diagnostic imaging , Prenatal Care
7.
J Ultrasound Med ; 42(10): 2377-2390, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37269243

ABSTRACT

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.


Subject(s)
Fetal Weight , Placenta , Pregnancy , Female , Infant, Newborn , Humans , Gestational Age , Birth Weight , Cross-Sectional Studies , Prospective Studies , Placenta/diagnostic imaging , Blood Flow Velocity/physiology , Fetus/diagnostic imaging , Liver/blood supply , Ultrasonography, Prenatal/methods , Fetal Growth Retardation
8.
J Ultrasound Med ; 42(1): 59-70, 2023 Jan.
Article in English | MEDLINE | ID: mdl-35396717

ABSTRACT

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.


Subject(s)
Beckwith-Wiedemann Syndrome , Macroglossia , Pregnancy , Female , Humans , Macroglossia/complications , Beckwith-Wiedemann Syndrome/complications , Cross-Sectional Studies , Prospective Studies , Tongue/abnormalities
9.
Am J Obstet Gynecol ; 227(6): 897.e1-897.e9, 2022 12.
Article in English | MEDLINE | ID: mdl-35940225

ABSTRACT

BACKGROUND: Esophageal atresia is a major anomaly of varying severity. The complexity of surgical correction depends on the presence of a distal fistula. OBJECTIVE: This study aimed to determine the feasibility and accuracy of prenatal ultrasound detection of the distal fistula in fetuses diagnosed with esophageal atresia. STUDY DESIGN: This was an observational study conducted at a single tertiary care center between 2019 and 2021. Included were pregnant patients carrying a fetus prenatally diagnosed with esophageal atresia that was confirmed postnatally during corrective surgery or at postmortem autopsy. During the scan, the performing investigator determined the presence or absence of a distal fistula by scanning the location of the lower esophagus during fetal breathing. Cases in which the lower esophagus was observed distending with amniotic fluid during breathing were deemed "fistula present," and the remaining cases "fistula absent." Test feasibility and performance indices, including sensitivity, specificity, and positive and negative predictive value were calculated. The offline clips and images were reviewed by 2 investigators for the assessment of interoperator agreement using Cohen's Kappa formula. RESULTS: Included were 16 fetuses with esophageal atresia scanned between 2019 and 2021. All fetuses were successfully scanned with sufficient resolution of the area of interest during at least 3 cycles of breathing. It took a median of 8.5 minutes to determine the presence or absence of a distal fistula. The feasibility of the test was 100% (16/16). The test's sensitivity, specificity, and positive and negative predictive values were 80% (95% confidence interval, 55-100), 100% (95% confidence interval, 60-100), 100% (95% confidence interval, 65-100), and 75% (95% confidence interval, 45-100), respectively. The Cohen's Kappa for interoperator agreement was calculated to be 1, P<.001, corresponding to a "perfect" level of agreement. CONCLUSION: Distal fistulas in esophageal atresia can be demonstrated prenatally by targeted scanning using appropriate technique. The method provided is feasible, reproducible, and has excellent performance indices. This novel technique and observations may improve the prenatal diagnosis and counseling of esophageal atresia.


Subject(s)
Esophageal Atresia , Tracheoesophageal Fistula , Pregnancy , Female , Humans , Esophageal Atresia/diagnostic imaging , Esophageal Atresia/surgery , Tracheoesophageal Fistula/diagnostic imaging , Tracheoesophageal Fistula/surgery , Prenatal Diagnosis/methods , Amniotic Fluid
10.
Eur J Obstet Gynecol Reprod Biol ; 276: 179-184, 2022 Sep.
Article in English | MEDLINE | ID: mdl-35930812

ABSTRACT

OBJECTIVE: Congenital intrahepatic shunts divert highly oxygen and nutrients rich placental blood flow from the liver into the systemic flow having a negative influence on normal fetal growth and postnatal development. The ability to recognize this anomaly helps assess the possible clinical impact, counseling, and management of pregnancy. The present study aimed to propose in utero classification for the Intrahepatic Umbilical-Porto-Systemic Venous Shunt (IHUPSVS) based on our experience. STUDY DESIGN: A prospective study. Grayscale ultrasound with two and three-dimensional high-definition Doppler modalities was used. IHUPSVS was defined as a diversion of blood from the liver tissue by abnormal communication between a branch of the intrahepatic Umbilical vein or the Portal veins with the systemic circulation (the Hepatic veins or the Sub-Diaphragmatic Vestibulum). RESULTS: Twenty-five fetuses were diagnosed with IHUPSVS. We identified three main anatomic types: I) Porto-hepatic shunt which was divided into Ia) regular single shunt (15/25, 60%) and Ib) regular multiple shunts, (6/25, 24%) II) Umbilical-Porto-Hepatic shunt divided into a) Umbilical or b) Umbilical combined with Portal hepatic shunt (2/25, 8%) and III) Cavernous- aneurysmatic shunt (2/25, 8%). All the shunts were verified by postnatal targeted sonography. CONCLUSIONS: This study creates the anatomic basis for common nomenclature and future probable updating for this anomaly.


Subject(s)
Fistula , Placenta , Female , Hepatic Veins/abnormalities , Hepatic Veins/diagnostic imaging , Humans , Portal Vein/abnormalities , Portal Vein/diagnostic imaging , Pregnancy , Prospective Studies , Umbilical Veins/diagnostic imaging
11.
J Perinat Med ; 50(8): 1007-1029, 2022 Oct 26.
Article in English | MEDLINE | ID: mdl-35618672

ABSTRACT

This recommendation document follows the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation. We aim to bring together groups and individuals throughout the world for standardization to implement the ultrasound evaluation in labor ward and improve the clinical management of labor. Ultrasound in labor can be performed using a transabdominal or a transperineal approach depending upon which parameters are being assessed. During transabdominal imaging, fetal anatomy, presentation, liquor volume, and placental localization can be determined. The transperineal images depict images of the fetal head in which calculations to determine a proposed fetal head station can be made.


Subject(s)
Delivery, Obstetric , Labor Presentation , Delivery, Obstetric/methods , Female , Head/diagnostic imaging , Humans , Placenta , Pregnancy , Prospective Studies , Ultrasonography, Prenatal/methods
12.
Arch Med Sci ; 18(2): 382-387, 2022.
Article in English | MEDLINE | ID: mdl-35316899

ABSTRACT

Introduction: Maternal glycemic state is positively correlated with fetal insulin secretion. Randomized control studies have shown that treatment during pregnancy inhibits to some degree this glycemic effect. Our study aimed to assess fetal pancreas size in a population of treated mothers with gestational diabetes. Material and methods: A cross-sectional, prospective observational study was conducted. Pregnant women at 19-36 weeks of gestation with pre-gestational diabetes receiving insulin therapy or with gestational diabetes receiving either insulin or oral hypoglycemic therapy were recruited. The fetal pancreas circumference was measured and compared to the normal reference range. The Z score of the difference between measured and normal predicted mean pancreas circumference, the regression analysis throughout pregnancy, and the correlation between estimated fetal weight centile and pancreas circumference were calculated. Results: Ninety-one women who had gestational diabetes and thirty-four women who had pre-gestational diabetes were included in the study. For both groups, fetal pancreas circumference correlated significantly with abdominal circumference, estimated fetal weight and gestational age. The mean Z score between the predicted pancreas circumference in the group of women diagnosed with gestational diabetes and the predicted pancreas circumference in a normal population peaked at around 24 weeks of gestation (1.1) and decreased gradually afterward to a value of zero at 37 weeks. The mean Z score between the predicted pancreas circumference in the group of women with pre-gestational diabetes and the predicted pancreas circumference in a normal population constantly decreased with duration of pregnancy. It was positive until the 25th week of gestation and then presented negative values towards the term. Conclusions: The presented preliminary data suggest a possible correlation between glycemic control treatment, pancreas size, and gestational age.

13.
J Matern Fetal Neonatal Med ; 35(25): 9730-9735, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35282760

ABSTRACT

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.


Subject(s)
Fetus , Prenatal Diagnosis , Pregnancy , Female , Humans , Exome Sequencing/methods , Retrospective Studies , Fetus/diagnostic imaging , Fetus/abnormalities , Microarray Analysis/methods , Pregnancy Trimester, Third , Prenatal Diagnosis/methods
14.
Arch Gynecol Obstet ; 306(5): 1469-1475, 2022 11.
Article in English | MEDLINE | ID: mdl-35107615

ABSTRACT

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.


Subject(s)
Delivery, Obstetric , Fetal Weight , Cesarean Section , Female , Humans , Pregnancy , Prospective Studies , Risk Assessment , Ultrasonography, Prenatal
15.
Psychol Trauma ; 14(6): 1057-1065, 2022 Sep.
Article in English | MEDLINE | ID: mdl-32105133

ABSTRACT

OBJECTIVE: Mounting evidence indicates the detrimental impact of posttraumatic stress following childbirth (PTS-FC). Nevertheless, research on preventive strategies is scarce. We recently reported that ultrasound visual biofeedback during second stage of labor was associated with immediate beneficial medical outcomes (increased pushing efficacy, decreased perineal tearing), as well as greater feelings of maternal connectedness toward her newborn immediately postlabor. The current study assessed the potential longer-term psychological benefits of these outcomes in buffering risk for PTS-FC. The study follows up the previously reported sample to examine the longitudinal clinical effect of the visual biofeedback intervention on symptoms of acute stress at 2 days postpartum and subsequent symptoms of PTS-FC at 1 month postpartum. METHOD: A sample of 26 nulliparous women received visual biofeedback and was compared to a group of women receiving standard obstetrical coaching. Maternal feelings of connectedness and acute stress symptoms were assessed 2 days postpartum and PTS-FC was assessed 1 month postpartum. RESULTS: Double-mediation analyses revealed a significant indirect relation between visual biofeedback and decreased PTS-FC symptoms 1 month postpartum. The relation was significantly mediated by increased feelings of maternal connectedness immediately postpartum, which in turn was associated with decreased symptoms of acute stress 2 days postpartum. CONCLUSIONS: These results suggest that the visual biofeedback intervention during childbirth may decrease risk for PTS-FC. Importantly, findings suggest the preventive potential of fostering feelings of maternal connectedness toward her newborn to reduce symptoms of PTS-FC. (PsycInfo Database Record (c) 2022 APA, all rights reserved).


Subject(s)
Depression, Postpartum , Stress Disorders, Post-Traumatic , Biofeedback, Psychology , Delivery, Obstetric/psychology , Depression, Postpartum/psychology , Female , Humans , Infant, Newborn , Parturition/psychology , Postpartum Period/psychology , Pregnancy , Stress Disorders, Post-Traumatic/prevention & control , Stress Disorders, Post-Traumatic/psychology
17.
J Matern Fetal Neonatal Med ; 35(21): 4056-4059, 2022 Nov.
Article in English | MEDLINE | ID: mdl-33179565

ABSTRACT

OBJECTIVES: Placenta accreta spectrum constitutes one of the most complicated challenges in modern obstetrics. Given the conflicting data regarding the added value of MRI in the diagnosis of invasive placentation, we aim to assess individual and combined ability of multiple sonographic and MRI signs to diagnose placenta accreta spectrum in suspected cases. METHODS: We assessed 28 cases of suspected placenta accreta spectrum in the third trimester. All cases underwent ultrasound assessment as well as MRI scan. Diagnosis was confirmed during surgery. The value of sonographic and MRI signs in the detection of placenta accreta spectrum was assessed. RESULTS: A total of 23 cases were diagnosed with placenta accreta spectrum during cesarean delivery. Overall, ultrasound was found to be more sensitive and specific compared to MRI (sensitivity of 0.96 and specificity of 0.6 in ultrasound vs. sensitivity of 0.83 and specificity of 0.4 in MRI). However, the use of a post-hoc structured model improved MRI performance to a similar level of ultrasound (sensitivity of 0.96 and specificity of 0.6). CONCLUSIONS: Ultrasound is superior to MRI in the detection of placenta accreta spectrum. However, MRI performance can be greatly improved by the use of a structured scoring system.


Subject(s)
Placenta Accreta , Female , Humans , Magnetic Resonance Imaging , Placenta , Placentation , Pregnancy , Retrospective Studies , Ultrasonography , Ultrasonography, Prenatal
18.
Ultraschall Med ; 43(3): 298-303, 2022 06.
Article in English | MEDLINE | ID: mdl-32674187

ABSTRACT

BACKGROUND: Umbilical cord knot (UCK) is associated with increased risk of fetal death, but is usually diagnosed only after delivery. Our objective was to examine the accuracy of prenatal ultrasound in the diagnosis of UCK and the outcomes of these pregnancies. METHODS: A prospective study was performed on 56 patients in which UCK was suspected during a routine level-II anatomical scan (study group). Data included demographics, pregnancy outcome, and short-term neonatal follow-up. The control group included pregnant women with normal pregnancy without UCK in a 4:1 ratio matched for gestational age at delivery. RESULTS: True knot was observed postnatally in 54 out of 56 fetuses (detection rate of 96.4 %). Gestational age at diagnosis of UCK was 22.1 ±â€Š3.1 weeks. The female to male ratio was 1:1 in both groups. Maternal age and parity were significantly higher in pregnancies with UCK compared to controls. The mean gestational age at delivery was 37.1 weeks of gestation in the UCK group. There was no difference in the birthweight percentile. 47 patients (87 %) underwent induction of labor. There were no differences in the rate of cesarean section or Apgar scores. No neonate with UCK needed ventilation. None suffered from seizures and none needed brain imaging. There were no cases of fetal or neonatal death in the pregnancies with UCK. CONCLUSION: There is a high detection rate of UCK during targeted scan of the umbilical cord performed during the level-II anatomical scan. Careful pregnancy follow-up and early term delivery may result in excellent obstetrical outcomes.


Subject(s)
Cesarean Section , Umbilical Cord , Apgar Score , Female , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Outcome , Prospective Studies , Ultrasonography, Prenatal/methods , Umbilical Cord/diagnostic imaging
19.
Ultraschall Med ; 43(6): e112-e117, 2022 Dec.
Article in English | MEDLINE | ID: mdl-33091939

ABSTRACT

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.


Subject(s)
Lung Diseases , Vascular Ring , Pregnancy , Female , Humans , Vascular Ring/diagnostic imaging , Vascular Ring/surgery , Trachea/diagnostic imaging , Trachea/surgery , Retrospective Studies , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/surgery , Ultrasonography, Prenatal
20.
J Matern Fetal Neonatal Med ; 35(25): 5400-5408, 2022 Dec.
Article in English | MEDLINE | ID: mdl-33525939

ABSTRACT

OBJECTIVE: The aim of this study was to describe the prenatal diagnosis of Major Aortopulmonary Collateral Arteries (MAPCAs), and to present a systematic ultrasound method for evaluating lung vascularity in fetuses with pulmonary atresia with ventricular septal defect (PAVSD) and agenesis of ductus arteriosus (DA). METHOD: This retrospective study evaluated fetuses diagnosed with PAVSD with agenesis of DA, for the presence of the MAPCAs anomaly. Fetal pulmonary vasculature was investigated by 2D and 4D Spatio Temporal Image Correlation (STIC) technology using High Definition Color Doppler. RESULTS: Over a 10 year period, six fetuses were diagnosed with MAPCAs. Prenatal diagnosis was made between 17 w 6 d and 28 w 4 d in five fetuses, with the sixth diagnosed at 37 w 6 d. All six had PAVSD with agenesis DA, four exhibited pulmonic atresia without any arterial outflow, while two fetuses presented with absent left pulmonary artery, and a miniscule right pulmonary artery. In five cases, the parents elected to terminate the pregnancy and the last, although born alive, did not survive an attempt at restorative surgery and died at the age of 5 months. Postnatal CT angiography imaging of this case revealed the subclavian origin of the MAPCAs. Chromosomal micro array analysis of the amniotic fluid revealed that five of the six fetuses were normal and one was lost to follow up. CONCLUSION: MAPCAs should be investigated in cases of PAVSD with agenesis DA. A meticulous ultrasound evaluation using 2D and 4D STIC can permit the prenatal diagnosis of this anomaly and provide the parents with the opportunity for prenatal consultation.


Subject(s)
Ductus Arteriosus, Patent , Ductus Arteriosus , Heart Defects, Congenital , Heart Septal Defects, Ventricular , Respiratory System Abnormalities , Pregnancy , Female , Humans , Infant , Retrospective Studies , Prenatal Diagnosis , Pulmonary Artery/diagnostic imaging , Pulmonary Artery/abnormalities
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