Confusion from prenatal diagnosis: Type C persistent fifth aortic arch or right-side ductus arteriosus.

We described a case of a double aortic arch (DAA) with a subaortic left brachiocephalic vein (LBCV) and right-side ductus arteriosus using high-definition (HD) flow render mode and spatiotemporal image correlation (STIC). We experienced uncertainty regarding this interesting case despite the diagnosis of right-sided ductus arteriosus. The ductus arteriosus originates from the right pulmonary artery (PA) and converges into the descending aorta (DAO), whereas the vessel originated from the PA and converged into the ascending aorta (AAO). Therefore, we assumed that the vessel connecting the PA to AAO may be a type-C persistent fifth aortic arch (PFAA).

Prenatal diagnosis of interrupted aortic arch using high-definition flow render mode and spatiotemporal image correlation.

OBJECTIVES: To evaluate the clinical utility of two dimensional (2D) ultrasound combined with spatiotemporal image correlation (STIC) in diagnosing interrupted aortic arch (IAA) in fetal life. METHODS: A total of 53 cases of fetal IAA were diagnosed using 2D ultrasound combined with STIC, and 53 normal fetuses of the same gestational week were selected. These cases were retrospectively analyzed to assess the utility of employing 2D ultrasound combined with STIC in the diagnosis of IAA. RESULTS: 2D ultrasound combined with STIC detected 22 cases of type A IAA, 24 cases of type B IAA, and seven cases of type C IAA. Furthermore, combining 2D ultrasound with STIC enabled dynamic visualization of the IAA, aiding in prenatal diagnosis. The diagnostic coincidence rate of IAA was found to be higher in the HD-flow combined with STIC than that in the 2D combined with HD-flow. CONCLUSION: HD-flow combined with STIC can assist in diagnosing fetal IAA, and this technique has important clinical value.

Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.

INTRODUCTION: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens. CASE PRESENTATION: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected. CONCLUSION: MPPH syndrome with PHPV can be diagnosed prenatally.

Prenatal diagnosis of double aortic arch with subaortic left brachiocephalic vein and right-side ductus arteriosus using high-definition flow render mode and spatiotemporal image correlation.

Double aortic arch (DAA) with subaortic left brachiocephalic vein (LBCV) and right-side ductus arteriosus (RDA) was not reported before delivery, only in adults with anatomy course findings. We present a case of fetal DAA with subaortic LBCV and RDA using high-definition (HD) flow render mode and spatiotemporal image correlation (STIC).

Prenatal diagnosis of fetal conotruncal defects by using 2D ultrasound and HD live flow combined with spatiotemporal image correlation.

INTRODUCTION: To explore the diagnostic value of spatiotemporal image correlation (STIC) for different types of fetal conotruncal defects (CTDs). METHODS: The clinical data and STIC images of 174 fetuses with CTDs diagnosed via prenatal ultrasound were analyzed retrospectively. RESULTS: Among the 174 cases of CTDs, 58 were tetralogy of Fallot (TOF); 30, transposition of great arteries (TGA) (D-TGA, 23 cases; cc-TGA, 7 cases); 26, double outlet of the right ventricle (DORV); 32, persistent arterial trunk (PTA) (type A1, 15 cases; type A2, 11 cases; type A3, 5 cases; type A4, 1 case); and 28, pulmonary atresia (PA) (ventricular septal defect, 24 cases; ventricular septal integrity, 4 cases). Among the cases, 156 were complicated with complex congenital intracardiac and extracardiac malformations. The abnormal display rate of the four-chamber view of two-dimensional echocardiography was low. The display rate of the permanent arterial trunk was the highest (90.6%) in STIC imaging. CONCLUSIONS: STIC imaging can be used in the diagnosis of different types of CTDs, especially in persistent arterial trunks, and thus has great value for the clinical treatment and prognosis of these defects.

Clinical value of prenatal ultrasound in diagnosis and classification of common arterial trunk.

OBJECTIVES: To investigate the clinical value of prenatal ultrasound in the diagnosis of the common arterial trunk (CAT) classification and associated malformations. MATERIALS AND METHODS: The 2D ultrasound images, spatiotemporal image correlations (STICs) and clinical data of 88 fetuses diagnosed with CAT malformations by prenatal ultrasound were retrospectively analyzed and classified. The correlation between different types, fetal malformation and pregnancy outcomes were analyzed. RESULTS: Among the 88 fetuses, there were 39 cases (44.32%) of type A1, 40 cases (45.45%) of type A2, 8 cases (9.09%) of type A3, and 1 case of type A4 (1.14%). There were 16 cases (18.18%) with isolated CAT, 48 cases (54.55%) with complex intra-cardiac structural abnormalities, and 24 cases (27.27%) with intra-cardiac and extra-cardiac structural abnormalities. In extra-cardiac structural malformations, 14 cases were associated with 1 other system abnormality, 4 cases with 2 other system abnormalities, 3 cases with 3 other system abnormalities, while 3 cases were combined with 4 other system abnormalities, among which the facial and physical abnormalities had the highest incidence (39.13%). The STIC images were completely displayed in all 88 cases. There was a statistical difference between isolated CAT and CAT combined with other abnormalities in fetal pregnancy outcomes. CONCLUSIONS: Prenatal ultrasound had a high clinical application value in CAT classification. Pregnancy outcomes were highly correlated with the classification and associated intra-cardiac and extra-cardiac structural malformations. The early evaluation of fetal prognosis before birth has important value for clinical intervention.

Placental micro blood perfusion for isolated single umbilical artery foetuses and VEGF protein expression in the placenta.

Microblood perfusion of isolated single umbilical artery (ISUA) foetus placenta was evaluated using three-dimensional power Doppler ultrasound (3D-PDU). Vascular endothelial growth factor (VEGF) protein expression in the placenta was also semi-quantitative and qualitatively analysed. Differences between ISUA and control groups were compared. 3D-PDU was used to detect placental blood flow parameters, including vascularity index (VI), flow index, and vascularity flow index (VFI), in 58 foetuses in the ISUA group and 77 normal foetuses in the control group. Immunohistochemistry and polymerase chain reaction were employed to analyse the VEGF expression in placental tissues of 26 foetuses in the ISUA group and 26 foetuses in the control group. The control group exhibited higher VI and VFI than the ISUA group (p < 0.05). Meanwhile, the ISUA group showed a higher positivity rate of VEGF protein expression than the control group (χ2=28.013, p˂0.001). The ISUA group also presented a higher VEGF mRNA protein expression than the control group (p˂0.001). 3D-PDU can be used to quantitatively analyse microblood perfusion of the placenta and provide an objective assessment of ISUA foetuses.Impact statementWhat is already known on this subject? Colour Doppler flow can be used to evaluate placental and maternal circulation and remains an ideal method for evaluating high-risk placental function. Three-dimensional power Doppler ultrasound (3D-PDU) can be used to quantify blood vessels and blood flow in placental parenchyma via the measurement of the amplitude of blood vessels and blood flow in normal foetuses, respectively.What do the results of this study add? 3D-PDU can be used to quantitatively analyse micro blood perfusion of the placenta and conduct an objective assessment of isolated single umbilical artery foetuses. The isolated single umbilical artery foetuses exhibited a higher positivity rate of vascular endothelial growth factor (VEGF) protein expression and higher VEGF mRNA protein expression than the normal foetuses.What are the implication of these findings for clinical practice and/or further research? The study provides a reliable basis for maternal-foetal monitoring during pregnancy in the isolated single umbilical artery foetuses. Objective assessment of the occurrence and development of foetuses with isolated single umbilical artery was performed.

Prenatal diagnosis of anomalous left brachiocephalic vein courses using high-definition flow render mode and spatiotemporal image correlation.

BACKGROUND: This study aimed to examine the clinical value of high-definition (HD) flow render mode and spatiotemporal image correlation (STIC) to diagnose anomalous left brachiocephalic vein (LBCV) courses in fetuses. METHODS AND RESULTS: Seventeen cases of anomalous LBCV courses were diagnosed using two-dimensional (2D), HD-flow, and HD-flow combined with STIC images and retrospectively analyzed to examine the significance of using HD-flow combined with STIC technology in the diagnosis of anomalous LBCV courses. CONCLUSIONS: HD-flow combined with STIC technology can help in the diagnosis of anomalous fetal LBCV courses, and this technique has important clinical value.

An unusual case of prenatal diagnosis of isolated subaortic left brachiocephalic vein with HDlive flow and spatiotemporal image correlation(STIC).

Subaortic left brachiocephalic vein (LBCV) is rare in prenatal diagnosis. Reported herein is a case of subaortic a LBCV diagnosed using the HDlive flow and spatiotemporal image correlation with postnatal outcomes evaluation in our hospital.

Prenatal diagnosis of fetal inferior vena cava malformation using HDlive flow combined with spatiotemporal image correlation.

OBJECTIVES: This study aimed to examine the application value of high-definition live (HDlive) flow combined with spatiotemporal image correlation (STIC) in the diagnosis of fetal inferior vena cava malformation (IVCM). METHODS: Twenty cases of IVCMs were diagnosed using two-dimensional HDlive flow and HDlive flow combined with STIC and retrospectively analyzed to examine the impact of using HDlive flow combined with STIC in the diagnosis of IVCM. RESULTS: HDlive flow combined with STIC detected one case of duplicated IVC, four cases of left IVC (two cases with complex malformations), and 15 cases of interrupted IVC (two cases of isolated IVC disconnection, five cases with left atrial heterogeneous syndrome, and eight cases with other complex malformations). CONCLUSION: HDlive flow combined with STIC can help in the diagnosis of IVCM, and this technique has important clinical value.

Prenatal diagnosis of total anomalous pulmonary venous connection using 2D and HDlive flow combined with spatiotemporal image correlation.

OBJECTIVES: The objective of this study is to examine the application value of two-dimensional (2D) and high-definition live (HDlive) flow combined with spatiotemporal image correlation (STIC) in diagnosing fetal total anomalous pulmonary venous connection (TAPVC). METHODS: Seventeen cases of fetal TAPVC were diagnosed using 2D and HDlive Flow combined with STIC. These cases were then retrospectively analyzed to examine the value of using 2D and HDlive Flow combined with STIC in the diagnosis of TAPVC. RESULTS: 2D and HDlive Flow combined with STIC detected 13 cases of supracardiac TAPVC (two isolated cases, seven cases with right atrial isomerism (RAI), four cases with other complex malformations), one case of isolated intra-cardiac TAPVC, and three cases of cardiac TAPVC (two isolated cases and one case with complex congenital heart anomaly). Small left atrium (LA), the absence of PVs drainage into the LA and the increased retroatrial distance between LA and the descending aorta (DAo) were significant signs that should raise the suspicion of fetal TAPVC. HDlive Flow combined with STIC can dynamically display the TAPVC which may assit the prenatal diagnosis of TAPVC. CONCLUSION: 2D and HDlive Flow combined with STIC can assit the diagnosis of fetal TAPVC abnormalities and has important clinical value.

Prenatal Ultrasound Diagnosis of Persistent Hyperplastic Primary Vitreous with Retinoblastoma.

INTRODUCTION: Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities characterized by the presence of a vascular membrane behind the lens. Retinoblastoma is a life-threatening intraocular malignancy that can cause blindness, eye loss, or even death. PHPV and retinoblastoma are extremely rare prenatal diseases. CASE PRESENTATION: Here, we present a case of fetal PHPV with retinoblastoma diagnosed using prenatal ultrasound. The unilateral lenses were hyperechoic, and irregular echogenic bands between the lenses and posterior eye walls were observed. In cases where the blood flow signal continues in the band-shaped hyperechoic area, PHPV with retinoblastoma should be suspected. CONCLUSION: PHPV with retinoblastoma can be prenatally diagnosed.

Comparative study of umbilical cord cross-sectional area in foetuses with isolated single umbilical artery and normal umbilical artery.

Single umbilical artery (SUA) is one of the most common prenatal diagnoses in cases of foetal abnormality. This prospective study evaluated 77 foetuses with isolated SUAs and 77 healthy foetuses, both at 22-39 gestational weeks. We categorised gestational age into the second and third trimesters, measured the umbilical arterial blood flow parameters and calculated the umbilical vein (UV) area, umbilical artery (UA) area and UV area/UA area ratio. In the second and third trimesters, a higher UA area was obtained in the isolated SUA group than in the control group (p < .01). Furthermore, the isolated SUA group had a lower UV area/UA area ratio than the control group (p < .01), and a positive linear correlation was found between gestational age and UV area in both groups (p < .01). The presence of isolated SUAs was associated with low birth weight and a high prevalence of small for gestational age.IMPACT STATEMENTWhat is already known on this subject? Single umbilical artery (SUA) is one of the most common prenatally diagnosed foetal abnormalities and approximately 80% foetuses with SUA have isolated SUA, which is a soft indicator of chromosome abnormalities, congenital malformations and premature birth. Umbilical cord cross-sectional area can be evaluated prenatally by ultrasound imaging. Normal values increase with gestational age and foetal size in single pregnancies. Changes in umbilical cord thickness have been associated with complications during pregnancy.What do the results of this study add? The correlation between gestational age and umbilical vein area in the isolated single umbilical artery (SUA) group and control group was better than that between gestational age and umbilical artery area. UA area increased significantly in both groups before 28 weeks but not after 28 weeks, particularly in the isolated SUA group.What are the implications of these findings for clinical practice and/or further research? The study provides a reliable basis for maternal foetal monitoring during pregnancy in the isolated SUA and control groups. Objective assessment of the occurrence and development of foetuses with isolated single umbilical artery was performed.

Prenatal diagnosis of complete vascular ring using high-definition flow render mode and spatiotemporal image correlation.

Vascular rings (VRs) are defined as congenital abnormalities of the aortic arch and its branches. VR can form a ring that may compress the esophagus and trachea, which likely result in feeding difficulties and respiratory distress. Physicians performing fetal echocardiography are knowledgeable about VRS and can provide this information to pediatric cardiothoracic surgeons. However, VRs are rare and can be missed. The three vessels and trachea (3VT) view used to diagnose VRs has been reported in the literature multiple times but in a small series. We diagnosed three cases of VRs using high-definition (HD) flow render mode and spatiotemporal image correlation (STIC). The composition of the VRs and vessel connections were shown more intuitively. This article reports our experience of the following related cases. In addition, postnatal imaging features of VRs were also evaluated.

Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare congenital genetic disorder caused by mutations in the ectodysplasin A gene, resulting in dysplasia or complete absence of teeth, hair, and sweat glands. XLHED is rarely diagnosed prenatally. We describe a case of XLHED diagnosed with prenatal sonography and umbilical cord blood gene testing.

Diagnosis of foetal vein of galen aneurysmal malformation by ultrasound combined with magnetic resonance imaging: a case series.

BACKGROUND: Foetal vein of Galen aneurysmal malformation (VGAM) is a very rare congenital malformation of the cerebral blood vessels. We sought to evaluate the diagnostic value of ultrasound in combination with magnetic resonance imaging (MRI) in foetal VGAM. CASE PRESENTATION: Prenatal ultrasound combined with MRI diagnosed five cases of VGAM. Two dimensional ultrasound images were used to find the echo-free cystic structure below the thalamus and above the cerebellum with five cases. Colour blood flow showed dilated VGAM in five cases, while the arteriovenous spectrum was explored in two cases and foetal heart failure was found in other three cases. MRI was manifested as a dilated VGAM found at the midline of the brain, demonstrating widening or dilation of the straight sinus in four cases, ventricular dilatation in one case, brain parenchyma bleeding in two cases, and grey matter softening in one case. One infant died on the day of its birth, while the other four infants died within one month to six months after birth. CONCLUSIONS: Ultrasound combined with MRI can more accurately and comprehensively observe the pathological characteristics of VGAM, diagnose related complications early and determine its prognosis.

An unusual case of prenatal diagnosis of right coronary artery to right ventricle fistula with HD-flow render mode and spatiotemporal image correlation (STIC).

Coronary artery fistula is rare in prenatal diagnosis. We have reported a case diagnosis of coronary artery fistula by using high-definition flow (HD-flow) render mode and spatiotemporal image correlation (STIC), and then evaluated the postnatal outcomes in our hospital.

Evaluation of right ventricular function in fetuses with isolated single umbilical artery using spatiotemporal image correlation M-mode.

BACKGROUND: Postnatal outcome of fetuses with isolated single umbilical artery (SUA) is determined mainly by right ventricular function. Our study examined whether there are differences in right ventricular function during the gestation period of fetuses with isolated SUA compared to healthy fetuses. METHODS: A prospective study was conducted on 77 fetuses with isolated SUA and 77 gestational age-matched controls from 22 to 39 weeks. For gestational age grouping, the isolated SUA fetuses and the control fetuses were divided into the second trimester group (22-27 weeks; 43 fetuses) and third trimester group (28-39 weeks; 34 fetuses). The fetal tricuspid annular plane systolic excursion (f-TAPSE) M-mode was applied to the tricuspid annulus, parallel to the ventricular septum, and the amplitude of the resulting wave was assessed using spatiotemporal image correlation (STIC) M-mode. We investigated the possible changes to the STIC M-mode indices during the course of pregnancy in both the isolated SUA and control groups. The relationship between f-TAPSE and gestational age was analyzed. Additionally, the correlations between f-TAPSE and birth weight was analyzed, and the birth weight differences between the isolated SUA and control groups in the third trimester were analyzed according to postpartum results. RESULTS: There was a significant difference in f-TAPSE between isolated SUA and control group in the third trimester (P < 0.05). There were significant correlations between gestational age (GA) and f-TAPSE among control fetuses (R2 = 0.9049; P < 0.01). A significant, positive correlation between GA and f-TAPSE was also found with isolated SUA fetuses (R2 = 0.8108; P < 0.01). The prevalence of small-for-gestational-age (SGA) fetuses and of discordant birth weight fetuses was significantly higher in the isolated SUA group than in the control group. In univariate analysis, the presence of an isolated SUA was associated with lower birth weight (2940 g compared with 3260 g) and with higher prevalence of SGA (13.0% compared with 3.9%; P < 0.01). The correlations between the birth weight and f-TAPSE in the two groups were analyzed in the third trimester, and the correlation in the isolated SUA group was better than that of the control group (R2 was 0.623 and 0.463 in the isolated SUA group and the control group, respectively). CONCLUSIONS: Right ventricular function in isolated SUA is altered as early as in fetal third trimester. STIC M-mode can measure the right heart function of the fetus and may predict isolated SUA with SGA.

Targeting iron-metabolism:a potential therapeutic strategy for pulmonary fibrosis.

Iron homeostasisis is integral to normal physiological and biochemical processes of lungs. The maintenance of iron homeostasis involves the process of intake, storage and output, dependening on iron-regulated protein/iron response element system to operate tightly metabolism-related genes, including TFR1, DMT1, Fth, and FPN. Dysregulation of iron can lead to iron overload, which increases the virulence of microbial colonisers and the occurrence of oxidative stress, causing alveolar epithelial cells to undergo necrosis and apoptosis, and form extracellular matrix. Accumulated iron drive iron-dependent ferroptosis to exacerbated pulmonary fibrosis. Notably, the iron chelator deferoxamine and the lipophilic antioxidant ferritin-1 have been shown to attenuate ferroptosis and inhibit lipid peroxidation in pulmonary fibrosis. The paper summarises the regulatory mechanisms of dysregulated iron metabolism and ferroptosis in the development of pulmonary fibrosis. Targeting iron metabolism may be a potential therapeutic strategy for the prevention and treatment of pulmonary fibrosis.