The Journal of Maternal-Fetal & Neonatal Medicine
BACKGROUND No current data exists regarding the occurrence of pathological results when using Who... more 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.
Archives of Disease in Childhood - Fetal and Neonatal Edition
ObjectiveOesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgi... more ObjectiveOesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgical correction highly depends on the gap length of missing oesophagus and the presence of a distal fistula. The aim of this study was to identify antenatal sonographic findings associated with presence of a distal fistula and type of surgical repairMethodsPrenatal medical records of neonates postnatally diagnosed with OA were reviewed. Sonographic signs of OA (small/absent stomach, polyhydramnios, oesophageal pouch) and the trimester at sign detection were recorded and compared between (1) OA with and without a distal fistula and (2) early one-step versus delayed two-step anastomosis. Multivariate analysis was performed.ResultsOverall, 80 cases of OA were included. Absence of a distal fistula was significantly associated with higher rates of small/absent stomach (100% vs 28.6%, P<0.0001), oesophageal pouch (100% vs 24.3%, P<0.0001) and severe polyhydramnios (66.7% vs 22.9%, P=0.006...
OBJECTIVES Abnormal fetal tongue size is a phenotypic feature of various syndromes including Beck... more 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.
Anogenital distance (AGD) is a biomarker for the prenatal hormonal environment. Androgen excess i... more Anogenital distance (AGD) is a biomarker for the prenatal hormonal environment. Androgen excess is a key element in polycystic ovary syndrome (PCOS). The aim of this study was to assess the sonographic foetal AGD in a population of PCOS mothers in comparison to the general population. Foetal AGD was measured prospectively by 2D ultrasound in PCOS mothers and compared to prenatal AGD nomograms. The results were interpreted regarding maternal and foetal characteristics. The mean sonographic foetal AGD centile measurement in PCOS mothers was significantly longer in comparison to the general population (86.04% ± 18.22; p < 0.001). Estimated foetal weight and birthweight were appropriate for gestational age and did not correlate with AGD. Sonographic foetal AGD was significantly longer in PCOS diabetic mothers and in those who conceived following assisted reproduction treatments when compared to the general population (p < 0.001). Our results support the role of AGD as a biomarker ...
The fetal liver circulation has an important role in fetal growth. The intra‐hepatic Umbilical‐Po... more 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.
Purpose: To assess the value of pre-labor maternal and fetal sonographic variables to predict an ... more 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 materna...
IntroductionMaternal glycemic state is positively correlated with fetal insulin secretion. Random... more IntroductionMaternal 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 methodsA 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.ResultsNinety-one women who had gestational diabetes and thirty-...
Ultraschall in der Medizin - European Journal of Ultrasound
Objective Congenital aortic vascular ring may present after birth with variable degrees of respir... more 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...
The Journal of Maternal-Fetal & Neonatal Medicine
BACKGROUND No current data exists regarding the occurrence of pathological results when using Who... more 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.
Archives of Disease in Childhood - Fetal and Neonatal Edition
ObjectiveOesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgi... more ObjectiveOesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgical correction highly depends on the gap length of missing oesophagus and the presence of a distal fistula. The aim of this study was to identify antenatal sonographic findings associated with presence of a distal fistula and type of surgical repairMethodsPrenatal medical records of neonates postnatally diagnosed with OA were reviewed. Sonographic signs of OA (small/absent stomach, polyhydramnios, oesophageal pouch) and the trimester at sign detection were recorded and compared between (1) OA with and without a distal fistula and (2) early one-step versus delayed two-step anastomosis. Multivariate analysis was performed.ResultsOverall, 80 cases of OA were included. Absence of a distal fistula was significantly associated with higher rates of small/absent stomach (100% vs 28.6%, P<0.0001), oesophageal pouch (100% vs 24.3%, P<0.0001) and severe polyhydramnios (66.7% vs 22.9%, P=0.006...
OBJECTIVES Abnormal fetal tongue size is a phenotypic feature of various syndromes including Beck... more 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.
Anogenital distance (AGD) is a biomarker for the prenatal hormonal environment. Androgen excess i... more Anogenital distance (AGD) is a biomarker for the prenatal hormonal environment. Androgen excess is a key element in polycystic ovary syndrome (PCOS). The aim of this study was to assess the sonographic foetal AGD in a population of PCOS mothers in comparison to the general population. Foetal AGD was measured prospectively by 2D ultrasound in PCOS mothers and compared to prenatal AGD nomograms. The results were interpreted regarding maternal and foetal characteristics. The mean sonographic foetal AGD centile measurement in PCOS mothers was significantly longer in comparison to the general population (86.04% ± 18.22; p < 0.001). Estimated foetal weight and birthweight were appropriate for gestational age and did not correlate with AGD. Sonographic foetal AGD was significantly longer in PCOS diabetic mothers and in those who conceived following assisted reproduction treatments when compared to the general population (p < 0.001). Our results support the role of AGD as a biomarker ...
The fetal liver circulation has an important role in fetal growth. The intra‐hepatic Umbilical‐Po... more 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.
Purpose: To assess the value of pre-labor maternal and fetal sonographic variables to predict an ... more 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 materna...
IntroductionMaternal glycemic state is positively correlated with fetal insulin secretion. Random... more IntroductionMaternal 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 methodsA 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.ResultsNinety-one women who had gestational diabetes and thirty-...
Ultraschall in der Medizin - European Journal of Ultrasound
Objective Congenital aortic vascular ring may present after birth with variable degrees of respir... more 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...
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