Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.

BACKGROUND: Uniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of different chromosomes remain unclear. OBJECTIVE: To assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and clinical outcomes. STUDY DESIGN: We retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and September 2022. The relationship between prenatal ultrasound findings, the involved chromosome(s), and clinical outcomes was evaluated. RESULTS: During the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (88.2%) had uniparental disomy occurring on a single chromosome, while four (11.8%) were identified with uniparental disomy on different chromosomes. The most frequently involved chromosomes were chromosomes 16, X and 2, which presented in 8 (23.5%), 5 (14.7%) and 4 (11.8%), respectively. Prenatal ultrasound abnormalities were detected in 21 fetuses, with the most common category being multiple abnormalities (12 (57.1%)). Fetal growth restriction was identified in 14 (41.2%) fetuses, all of which coexisted with other abnormal findings. The rate of adverse perinatal outcomes in patients with uniparental disomy and fetal abnormalities was significantly higher than those without abnormalities (76.2% versus 15.4%, P = 0.002). The incidence of fetal or neonatal death was significantly higher in fetuses with fetal growth restriction than those without (85.7% versus 30.0%, P = 0.004). CONCLUSIONS: The prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without.

Imaging features, clinical characteristics and neonatal outcomes of pregnancy luteoma: A case series and literature review.

INTRODUCTION: This study aimed to investigate the imaging features, clinical characteristics and neonatal outcomes of pregnancy luteoma. MATERIAL AND METHODS: We retrospectively analyzed patients with pregnancy luteoma admitted to the First Affiliated Hospital of Sun Yat-sen University between January 2003 and December 2022. We recorded their imaging features, clinical characteristics and neonatal outcomes. Additionally, we reviewed relevant studies in the field. RESULTS: In total, 127 cases were identified, including eight from our hospital and 119 from the literature. Most patients (93/127, 73.23%) were of reproductive age, 20-40 years old, and 66% were parous. Maternal hirsutism or virilization (such as deepening voice, acne, facial hair growth and clitoromegaly) was observed in 29.92% (38/127), whereas 59.06% of patients (75/127) were asymptomatic. Abdominal pain was reported in 13 patients due to compression, torsion or combined ectopic pregnancy. The pregnancy luteomas, primarily discovered during the third trimester (79/106, 74.53%), varied in size ranging from 10 mm to 20 cm in diameter. Seventy-five cases were incidentally detected during cesarean section or postpartum tubal ligation, and 39 were identified through imaging or physical examination during pregnancy. Approximately 26.61% of patients had bilateral lesions. The majority of pregnancy luteomas were solid and well-defined (94/107, 87.85%), with 43.06% (31/72) displaying multiple solid and well-circumscribed nodules. Elevated serum androgen levels (reaching values between 1.24 and 1529 times greater than normal values for term gestation) were observed in patients with hirsutism or virilization, with a larger lesion diameter (P < 0.001) and a higher prevalence of bilateral lesions (P < 0.001). Among the female infants born to masculinized mothers, 68.18% (15/22) were virilized. Information of imaging features was complete in 22 cases. Ultrasonography revealed well-demarcated hypoechoic solid masses with rich blood supply in 12 of 19 cases (63.16%). Nine patients underwent magnetic resonance imaging (MRI) or computed tomography (CT), and six exhibited solid masses, including three with multi-nodular solid masses. CONCLUSIONS: Pregnancy luteomas mainly manifest as well-defined, hypoechoic and hypervascular solid masses. MRI and CT are superior to ultrasonography in displaying the imaging features of multiple nodules. Maternal masculinization and solid masses with multiple nodules on imaging may help diagnose this rare disease.

Disproportion of Corpus Callosum in Fetuses With Malformations of Cortical Development.

OBJECTIVE: To evaluate corpus callosum (CC) size in fetuses with malformations of cortical development (MCD) and to explore the diagnostic value of three CC length (CCL) ratios in identifying cortical abnormalities. METHODS: This is a single-center retrospective study in singleton fetuses at 20-37 weeks of gestation between April 2017 and August 2022. The midsagittal plane of the fetal brain was obtained and evaluated for the following variables: length, height, area of the corpus callosum, and relevant markers, including the ratios of corpus callosum length to internal cranial occipitofrontal dimension (CCL/ICOFD), corpus callosum length to femur length (CCL/FL), and corpus callosum length to cerebellar vermian diameter (CCL/VD). Intra-class correlation coefficient (ICC) was used to evaluate measurement consistency. The accuracy of biometric measurements in prediction of MCD was assessed using the area under the receiver-operating-characteristics curves (AUC). RESULTS: Fetuses with MCD had a significantly decreased CCL, height (genu and splenium), and area as compared with those of normal fetuses (P < .05), but there was no significant difference in body height (P = .326). The CCL/ICOFD, CCL/FL, and CCL/VD ratios were significantly decreased in fetuses with MCD when compared with controls (P < .05). The CCL/ICOFD ratio offered the highest predictive accuracy for MCD, yielding an AUC of 0.856 (95% CI: 0.774-0.938, P < .001), followed by CCL/FL ratio (AUC, 0.780 (95% CI: 0.657-0.904), P < .001), CCL/VD ratio (AUC, 0.677 (95% CI: 0.559-0.795), P < .01). CONCLUSION: The corpus callosum biometric parameters in fetuses with MCD are reduced. The CCL/ICOFD ratio derived from sonographic measurements is considered a promising tool for the prenatal detection of cortical malformations. External validation of these findings and prospective studies are warranted.

Comparison of performance between O-RADS, IOTA simple rules risk assessment and ADNEX model in the discrimination of ovarian Brenner tumors.

PURPOSE: To describe the clinical and sonographic features of ovarian benign Brenner tumor (BBT) and malignant Brenner tumor (MBT), and to compare performance of four diagnostic models in differentiating them. METHODS: Fifteen patients with BBTs and nine patients with MBTs were retrospectively identified in our institution from January 2003 and December 2021. One ultrasound examiner categorized each mass according to ovarian-adnexal reporting and data system (O-RADS), international ovarian tumor analysis (IOTA) Simple Rules Risk (SR-Risk) assessment and assessment of different neoplasias in the adnexa (ADNEX) models with/without CA125. Receiver operating characteristic curves were generated to compare diagnostic performance. RESULTS: Patients with MBT had higher CA125 serum level (62.5% vs. 6.7%, P = 0.009) and larger maximum diameter of lesion (89 mm vs. 43 mm, P = 0.009) than did those with BBT. BBT tended to have higher prevalence of calcifications (100% vs. 55.6%, P = 0.012) and acoustic shadowing (93.3% vs. 33.3%, P = 0.004), and lower color scores manifesting none or minimal flow (100.0% vs. 22.2%, P < 0.001). Areas under curves of O-RADS, IOTA SR-Risk and ADNEX models with/without CA125 were 0.896, 0.913, 0.892 and 0.896, respectively. There were no significant differences between them. CONCLUSION: BBTs are often small solid tumors with sparse color Doppler signals, which contain calcifications with posterior acoustic shadowing. The most common pattern of MBT is a large multilocular-solid or solid mass with irregular tumor borders, and most were moderately or richly vascularized at color Doppler. These four models have excellent performance in distinguishing them.

Frontal lobe development in fetuses with growth restriction by using ultrasound: a case-control study.

BACKGROUND: Fetal growth restriction (FGR) occurs in up to 10% of pregnancies and is a leading cause of perinatal mortality and neonatal morbidity. Three-dimensional ultrasonography of intracranial structure volume revealed significant differences between fetuses with FGR and appropriate for gestational age (AGA) fetuses. We aimed to compare the frontal lobe development between fetuses with FGR and appropriately grown fetuses and evaluate the impact of fetal circulatory redistribution (FCR) on frontal lobe development in fetuses with FGR. METHODS: We performed a case-control study at our institution from August 2020 to April 2021. The frontal antero-posterior diameter (FAPD) and occipito-frontal diameter (OFD) were measured on the trans-ventricle view and we calculated the Z-scores for FAPD and OFD standardized for gestational age (GA) and transverse cerebellar diameter (TCD) by performing a standard regression analysis followed by weighted regression of absolute residual values in appropriately grown fetuses. We calculated the FAPD/OFD ratio as 100 × FAPD/OFD and FAPD/HC (head circumference) as 100 × FAPD/HC. To compare intracranial parameters, we randomly selected a control group of appropriately grown fetuses matched with the FGR group at the time of ultrasonography. We performed between-group comparisons of the FAPD Z-score, OFD Z-score, FAPD/OFD ratio and FAPD/HC. Similarly, we compared intracranial parameters between fetuses with FGR with and without FCR. RESULTS: FAPD/OFD ratio was curvilinear related to all the independent variables (GA, BPD, FL, and TCD). Compared with appropriately grown fetuses, fetuses with FGR showed a significantly lower FAPD/OFD ratio, FAPD Z-score, and FAPD/HC. There was no significant difference in the FAPD Z-score, FAPD/OFD ratio, and FAPD/HC between FGR fetuses with and without FCR. CONCLUSIONS: The FAPD/OFD ratio varied during pregnancy, with a mild reduction before and a mild increase after about 33 gestational weeks. Fetuses with FGR showed reduced frontal lobe growth; moreover, fetal frontal lobe development disorders were not significantly different in fetuses with FCR. TRIAL REGISTRATION: Date: 09-27-2017; Number: [2017]239.

Ultrasound in the prediction of birthweight discordance in dichorionic twins.

INTRODUCTION: Large birthweight discrepancy has been identified as a risk factor for perinatal morbidity and mortality in twin pregnancies. However, it remains unclear whether such discordance can be predicted by various biological indices with specific cut-off values, and how these depend on the gestational age. We aimed to determine the most effective way to predict large birthweight discordance at various gestational ages. MATERIAL AND METHODS: A retrospective cohort study of dichorionic twins, live-born between 2008 and 2018, was conducted. Discordances in biparietal diameter, head circumference, humerus and femur length, abdominal circumference, and estimated fetal weight were calculated-([larger twin - smaller twin] / larger twin) × 100%-and compared between those with and without a large birthweight discordance (≥20%). Receiver operating characteristic curves were constructed to analyze the predictive characteristics of each parameter. RESULTS: Of 598 dichorionic twin pregnancies included, 83 (13.9%) had a birthweight discordance ≥20%. Group differences in biparietal diameter and head circumference discordance were the earliest to emerge (before 20 weeks of gestation), but became insignificant after 36 weeks, followed by humerus and femur length, estimated fetal weight discordance (after 20 weeks), and abdominal circumference discordance (after 28 weeks). The best predictors (with cut-off values) were discordance in biparietal diameter ≥7.8% at <20 weeks, head circumference ≥4.5% at 20-23+6  weeks, humerus length ≥4.5% at 24-27+6  weeks, and estimated fetal weight discordance (≥11.6% at 28-31+6  weeks, ≥10.5% at 32-35+6  weeks, and ≥15.0% ≥36 weeks), with sensitivity and specificity of 52%-77% and 69%-82%, respectively. CONCLUSIONS: Different predictors and cut-off values may be useful for predicting large inter-twin birthweight discordance in dichorionic twins at different gestational ages. It is more accurate to use biparietal diameter and head circumference discordance in the early second trimester, humerus length discordance in the late second trimester, and estimated fetal weight discordance in the third trimester.

Prediction of cesarean hysterectomy in placenta previa complicated with prior cesarean: a retrospective study.

BACKGROUND: The prevalence of both placenta previa and cesarean are on the rise. Multiple adverse outcomes are critically increased when placenta previa is subsequent to prior cesarean. The purpose of the present study is to develop a pre-surgical method for predicting adverse outcomes in pregnancy complicated with both placenta previa and prior cesarean. METHODS: Clinical data was obtained from the medical history system at the First Affiliated Hospital of Sun Yat-sen University from February 2003 to December 2016. All cases with a final diagnosis of "placenta previa/low lying placenta (ICD:O44.001-105)" and "scarred uterus complicated with pregnancy (ICD: O34.200-202)" were collected and reviewed. Hysterectomy was taken as the primary outcome; and blood loss was taken as the secondary outcome. RESULTS: Of 219 pregnant women in the final analysis, 25 received a hysterectomy following delivery, and 48 had blood loss exceeding 1000 ml. Pre-surgical risk factors for hysterectomy are ultrasonic signs of vascular lacunae, central placenta previa, and loss of normal hypoechoic retroplacental zone. A pre-surgical predictive equation referred to as "Hysterectomy Index in Placenta Previa with Prior cesarean (HIPs)" was generated and each risk factor was weighted to create an 8-point scale. This index yielded an area under the curve of 0.972 for the prediction of hysterectomy. CONCLUSIONS: Application of the HIPs score may provide an effective pre-surgical prediction of cesarean hysterectomy in pregnant women complicated with both placenta previa and prior cesarean.

Evaluation of Cervical Elastography for Prediction of Spontaneous Preterm Birth in Low-Risk Women: A Prospective Study.

OBJECTIVES: The aim of this study was to determine whether cervical elastographic parameters in addition to cervical length (CL) during the 3 trimesters of pregnancy would be predictive of spontaneous preterm birth (sPTB) among low-risk women. METHODS: This work was a prospective nested case-control study evaluating cervical elastographic parameters and CL in low-risk women during the 3 trimesters of pregnancy. A binary logistic regression analysis was used to calculate significant covariates for prediction of sPTB. The area under the curve of the prediction model was calculated by using a receiver operating characteristic curve. RESULTS: There were 286 women (26 cases and 260 controls) included in the analysis. The parameters of cervical elasticity became softened and heterogeneous during the 3 trimesters of pregnancy in both women with and without sPTB. The differences in the mean strain value at the internal os of the cervix (IOS), ratio (strain ratio of the internal os to the external os) during the second trimester and the IOS during the third trimester between the groups had statistical significance (P < .01; P = .01; P < .01, respectively). The CL had no association with sPTB during the 3 trimesters. The IOS during the second trimester was a better predictor of sPTB, with an area under the curve of 0.730, and sensitivity was 72.73%. CONCLUSIONS: We observed multiple elastographic parameters and demonstrated the physiologic changes in the cervix during the 3 trimesters of pregnancy. Furthermore, we found that the IOS during the second trimester can be helpful in predicting sPTB. However, the CL had no association with sPTB during the 3 trimesters of pregnancy.

Quantitative elastography of cervical stiffness during the three trimesters of pregnancy with a semiautomatic measurement program: A longitudinal prospective pilot study.

AIM: To assess the reproducibility of a semiautomatic quantification tool for cervical stiffness and evaluate the normal changes in cervical elasticity during the three trimesters of pregnancy. METHODS: This longitudinal prospective pilot study evaluated cervical elasticity during the three trimesters of pregnancy (11-14, 20-24 and 28-32 weeks) in women with singleton pregnancies. Women with a history of conization, cerclage, cervical Naboth cysts (diameter > 10 mm), cervical tumors, or uterine malformation were excluded. A semiautomatic tool was used to evaluate the stiffness of the whole cervix and the internal and external cervical os with multiple quantitative elasticity parameters and the cervical length (CL) on the sagittal view via transvaginal elastography. Intraclass correlation coefficients (ICC) and Bland-Altman analysis were used to assess intra- and interobserver variability. E-Cervix parameters during the three trimesters were compared using the Friedman test. RESULTS: In total, 217 women with 651 strain examinations during the three trimesters were included. The intra- and interobserver ICC for the E-Cervix parameters ranged from 0.947 to 0.991 and 0.855 to 0.989, respectively. There were significant differences in all parameters among the three trimesters. Cervical elasticity showed significant softening and became heterogeneous during the three trimesters. The median CL was significantly shorter in the first trimester than in the second and third trimesters (P = 0.004, P < 0.001). CONCLUSION: E-Cervix provides a graphical tool for operators to easily define regions of interest and obtain multiple repeatable measures of elasticity. The normal references for E-Cervix parameters during the three trimesters reflect the physiological cervical changes during pregnancy.

Quantitative cervical elastography: a new approach of cervical insufficiency prediction.

OBJECTIVES: To establish methodological criteria for the clinical application of E-cervix technology in non-pregnant women, evaluate cervical differences between non-pregnant CI patients and normal women, and explore the predictive value of E-cervix for CI in non-pregnant women. METHODS: In all, 46 non-pregnant women with CI and 46 non-pregnant women with full-term pregnancy experience were included. Elastic parameters (HR, IOS, EOS, IOS/EOS, CL) of the cervix were measured by transvaginal examination with a mid-sagittal section as the ROI, followed by examination of the whole cervix. The pressure of the probe on the cervix was divided into three levels. The elastic data of three consecutive images were separately obtained by two doctors for three pressure levels. Image stability and the effects of pressure were evaluated and the repeatability of the measurements was tested. In the case and control groups, cervical elasticity images were selected by standardized operation methods. Differences in the parameters between the two groups were determined and the diagnostic efficiency of each parameter was analyzed. RESULTS: The HR, IOS, and EOS showed significant differences when measured on different sequential images obtained by continuous mapping (p < 0.05). The elastic parameters obtained from the first and last two images were significantly different (p < 0.05) and there were no significant differences between the elastic parameters obtained from the last two images (p > 0.05). The HR, IOS, EOS, and IOS/EOS showed significant differences among the pressure levels (p < 0.05), while the IOS showed a significant difference only between grades 0 and 2 (p < 0.05). E-cervix showed good repeatability within and among operators. The elastic parameters obtained by E-cervix in the CI group and control group were significantly different. ROC curve analysis showed that the HR was the most sensitive index for diagnosing CI. CONCLUSION: In E-cervix data acquisition, the first image should be excluded and the probe should not put pressure on the cervix. E-cervix has good retest and inter-observer reliability. Compared with normal women, CI patients showed a relatively softer and shorter cervix. E-cervix can be used as an important diagnostic tool for assessing cervical strain.

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

BACKGROUND: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncoding RNU4ATAC gene, in a Chinese family where two successive foetuses had been affected by severe microcephaly, is a case in point. These foetuses exhibited remarkably similar phenotypes in terms of their microcephaly and brain abnormalities; however, the paucity of other characteristic phenotypic features had made a precise diagnosis impossible. Given that no external causative factors had been reported/identified during the pregnancies, we sought a genetic cause for the phenotype in the proband, the second affected foetus. RESULTS: A search for chromosomal abnormalities and pathogenic copy number variants proved negative. WES was also negative. These initial failures prompted us to consider the potential role of RNU4ATAC, a noncoding gene implicated in microcephalic osteodysplastic primordial dwarfism type-1 (MOPD1), a severe autosomal recessive disease characterised by dwarfism, severe microcephaly and neurological abnormalities. Subsequent targeted sequencing of RNU4ATAC resulted in the identification of compound heterozygous variants, one being the most frequently reported MOPD1-causative mutation (51G>A), whereas the other was a novel 29T>A variant. Four distinct lines of evidence (allele frequency in normal populations, evolutionary conservation of the affected nucleotide, occurrence within a known mutational hotspot for MOPD1-causative variants and predicted effect on RNA secondary structure) allowed us to conclude that 29T>A is a new causative variant for MOPD1. CONCLUSIONS: Our findings highlight the limitations of WES in failing to detect variants within noncoding RNA genes and provide support for a role for whole-genome sequencing as a first-tier genetic test in paediatric medicine. Additionally, the identification of a novel RNU4ATAC variant within the mutational hotspot for MOPD1-causative variants further strengthens the critical role of the 5' stem-loop structure of U4atac in health and disease. Finally, this analysis enabled us to provide prenatal diagnosis and genetic counselling for the mother's third pregnancy, the first report of its kind in the context of inherited RNU4ATAC variants.

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis.

BACKGROUND: The etiology of TOF is complex and the genesis of TOF has been associated with environmental factors and genetic disorders, including chromosomal anomalies, aneuploidies, 22q11.2 deletion and single-gene disease. Previous literatures have shown that a chromosome alteration in about 30% patients with TOF and recently published articles reported that 22q11.2 deletion syndrome accounts for 16% cases with TOF diagnosed postnatally. CMA now is considered as gold standard for detecting genetic anomalies in fetuses with congenital malformations. CMA could detect a 6.6-25% incremental yield of CNVs in CHDs. The aim of this study was to assess the genetic anomalies in fetal tetralogy of Fallot (TOF) by using high-definition CMA. METHODS: This retrospective study reviewed all the fetuses diagnosed with TOF between 2013 and 2018. Prenatal ultrasongraphic findings, including cardiac angle, and the findings of CMA using Affymetrix CytoScan HD array were collected. RESULTS: Ninety-six fetuses with TOF and known genetic results were enrolled. Right aortic arch was the most common associated anomalies (22.9%). One fetus with trisomy 18, one with 46, XX, t (7;10)(q36;q22), one with 47, XYY and five with trisomy 21 were identified. Clinically significant CNVs occurred in 6.8% and uncertain significant CNVs in 3.4% fetal TOF with normal karyotype. A total of four cases with 22q11.2 microdeletion and two fetuses with Yq11.223q11.23 microduplication have been identified. Genetic anomalies, including chromosomal aberrations and pathogenic CNVs, were significantly higher in the TOF with extracardiac anomaly group than in the TOF without extracardiac anomaly group (P = 0.005). Abnormal cardiac angle was noticed in 24.0% fetal TOF. Genetic anomalies were more common in the TOF with abnormal cardiac angle than with normal cardiac angle (P = 0.001). On the other hand, abnormal cardiac angle was noticed in 64.3% fetal TOF with genetic anomalies while abnormal cardiac angle occurred in 17.1% fetal TOF with normal genetic results (P = 0.001). CONCLUSIONS: Genetic testing should be offered, specially using microarray analysis, for the fetal TOF with abnormal cardiac angle or extracardiac defects.

The ratio of cavum septi pellucidi width to anteroposterior cerebellar diameter: A novel index as a diagnostic adjunct for prenatal diagnosis of trisomy 18.

AIM: To explore the effectiveness of cavum septi pellucidi (CSP) width to anteroposterior cerebellar diameter (APCD) ratio as a diagnostic adjunct for prenatal diagnosis of trisomy 18. METHODS: Images of normal fetal brain within 15 and 35 weeks were stored in our center from 2016 to 2017. Images of aneuploid fetuses were retrospectively collected from 2004 to 2017. The transverse cerebellar diameter, APCD and CSP width were measured. CSP/APCD and APCD/transverse cerebellar diameter ratios were calculated and compared between euploid and aneuploid fetuses. RESULTS: One thousand and forty one fetuses were analyzed, including 817 euploid fetuses and 224 aneuploid fetuses (trisomy 21 117 cases, trisomy 18 82 cases, trisomy 13 9 cases, sex-linked 16 cases). No correlation had been found between both ratios and gestational weeks (P > 0.05). In aneuploid groups, means of ratios were both significantly different just between trisomy 18 group and euploid group (P < 0.05). The best area under the curve was shown by the CSP/APCD ratio. The cutoff value of CSP/APCD was 0.46 (sensitivity 87.0%, specificity 85.0%). CONCLUSION: A wide CSP or cerebellar hypoplasia warrants a more detailed ultrasound screening and genetic counseling. A larger CSP/APCD ratio alerts us to trisomy 18 syndrome, especially in cases with subtle anomalies.

Systemic Venous Drainage Is Associated with an Unfavorable Prenatal Behavior in Fetal Bronchopulmonary Sequestration.

OBJECTIVE: This study aimed to determine the significance of the venous drainage pattern of bronchopulmonary sequestration (BPS) in the prenatal course. METHODS: The venous drainage pattern of fetuses with BPS was determined with high-definition flow and confirmed by postnatal three-dimensional computed tomography angiography scan or autopsy. The volume of BPS lesions during gestation was recorded by the three-dimensional ultrasonographic Virtual Organ Computer-Aided Analysis software. The relationship between venous drainage pattern and prenatal characteristics was determined. RESULTS: Seventy-one fetuses were enrolled: 35 with systemic venous drainage (SVD) and 36 with pulmonary venous drainage (PVD). The volumes of BPS lesions significantly increased from the middle second trimester to the later second trimester in the SVD group. A marked decrease from the later second trimester to the third trimester was observed in the PVD group. The incidences of associated anomalies, hydrops, and polyhydramnios in the SVD group were 14.2, 23.3, and 33.3%, respectively, significantly higher than those in the PVD group (0, 0, and 5.6%, respectively). CONCLUSIONS: Our data indicate that SVD is correlated with a higher risk of associated anomalies and an unfavorable prenatal course in fetal BPS. Identification of the venous drainage pattern is of clinical significance in predicting the prenatal behavior of fetal BPS.

Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome.

OBJECTIVES: The aim of the study was to assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases, and genetic data were not available for 26 cases. Tetralogy of the Fallot was the most frequently associated anomaly. Among the 60 fetuses with known karyotype, one was 46, X, Yqh+, der(13)t(8;13)(q22.3;q33.2), one was 47, XYY and the remaining were normal. Our study showed that CMA could detect uncertain significant copy number variants in 5.2% of fetal RAA and pathogenic copy number variants in 5.2%, all of which were microdeletion in chromosome 22q11.21. The genetic anomalies, gestational age at delivery and postnatal death were not significantly different between RAA-no intracardiac anomalies and RAA-intracardiac anomalies group. One infant with aberrant left subclavian artery needed to perform a surgery for respiratory symptom. CONCLUSIONS: A right aortic arch is associated with 22q11.2 deletion syndrome in approximately 5% of cases, and, therefore, prenatal testing, preferably using CMA, should be offered. © 2017 John Wiley & Sons, Ltd.

Chromosomal and subchromosomal anomalies associated to small for gestational age fetuses with no additional structural anomalies.

OBJECTIVES: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. METHODS: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no), and umbilical artery Doppler flow (normal or abnormal). RESULTS: Chromosomal anomalies were identified in 6 (4.7%) SGA fetuses and pathogenic subchromosomal anomalies in 4 (3.1%) by microarray analysis. Chromosomal and subchromosomal anomalies were more frequently observed in cases with oligohydraminos (P = .017) and with early-onset SGA (P = .042). No differences were observed in relation to the existence of maternal risk factors and abnormal umbilical artery Doppler flow. Overall survival rate was 75.0% with different rates in the early and the late onset group (P < .001). CONCLUSIONS: There is a 3.3% incremental yield of subchromosomal anomalies in CMA above karyotyping in SGA fetuses. Chromosomal microarray analysis is recommended in SGA fetuses with no additional structural anomalies, especially coexisting with oligohydraminos and being early onset.

Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.

OBJECTIVE: To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS: This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. RESULTS: Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia. The rates of nonbenign chromosomal aberrations (including chromosomal aneuploidies, pathogenic CNVs, and variants of unknown significance) were 2/8 (25.0%), 2/7 (28.5%), 8/11 (72.7%), 7/32 (21.9%), and 6/16 (37.5%), respectively. Cases were also classified as isolated PFAs (30/74), PFAs with other central nervous system (CNS) abnormalities (13/74), or PFAs with extra-CNS structural abnormalities (31/74). No fetuses with isolated PFAs or PFAs accompanied by other CNS abnormalities exhibited chromosomal aneuploidies or pathogenic CNVs. The rate of pathogenic chromosomal aberrations in the remaining fetuses was 17/31 (22.9%). CONCLUSION: The combined use of chromosomal microarray analysis and karyotype analysis might assist the prenatal diagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ultrasonography.

Spectrums and Outcomes of Adnexal Torsion at Different Ages.

OBJECTIVES: To investigate the role of ultrasound in the preoperative diagnosis of adnexal torsion and describe its histological spectrum and outcomes at different ages. METHODS: This study comprised a retrospective investigation of a data set that included 195 female patients with clinically suspected adnexal torsion between January 2010 and July 2015. Each patient received a detailed pelvic ultrasound examination by an experienced ultrasound examiner, and a definitive diagnosis was achieved via surgery. The accuracy of an ultrasonic diagnosis of adnexal torsion was assessed. The patients were divided into three groups: female children and adolescents, fertile women, and postmenopausal women. The size, type, histological spectrum, and outcome of adnexal torsion in the different groups were also described. RESULTS: The sensitivity, specificity, and accuracy of ultrasound were 0.84, 0.77, and 0.81, respectively. There were significant differences in the presence of ultrasonic hallmarks among the true positive, false positive, and false negative cases of adnexal torsion. Ovarian torsion was identified in 94 cases, and isolated tubal torsion was identified in 15 cases. The most common histologic diagnoses of the pediatric group and the other two groups were a normal ovary and teratoma, respectively. The most common histologic diagnoses in the cases of isolated tubal torsion were mesosalpinx cyst and oviduct inflammation. CONCLUSIONS: Ultrasonography plays an important role in the preoperative diagnosis of adnexal torsion. Despite ovarian involvement in most of the cases, isolated oviduct torsion was not uncommon. The spectrum of histological diagnoses varied among the age groups.

Prenatal diagnosis of four-vessel umbilical cord with supernumerary vein varix: A case report and literature review.

Four-vessel umbilical cord with two arteries and two veins, and fetal intra-abdominal umbilical vein varix are rare fetal vascular pathologies, associated with congenital anomalies and an adverse perinatal outcome, respectively. We report a case of a healthy male neonate born at a gestational age of 38 weeks, five days, after prenatal sonographic diagnosis of a four-vessel umbilical cord with a supernumerary vein varix. To the best of our knowledge, this is the first case with this combination.

Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22+1 and 31+4 gestational weeks, but at 36+5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.