•Subcortical segmentation is performed in 3D fetal brain US with a 3D CNN.•High performance can be achieved using only nine manually annotated US volumes.•Pre-alignment increases segmentation ...performance but is not essential.•Subcortical growth curves during the second trimester of gestation are presented.•The cerebellar volume trajectories are in line with previous publications
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The quantification of subcortical volume development from 3D fetal ultrasound can provide important diagnostic information during pregnancy monitoring. However, manual segmentation of subcortical structures in ultrasound volumes is time-consuming and challenging due to low soft tissue contrast, speckle and shadowing artifacts. For this reason, we developed a convolutional neural network (CNN) for the automated segmentation of the choroid plexus (CP), lateral posterior ventricle horns (LPVH), cavum septum pellucidum et vergae (CSPV), and cerebellum (CB) from 3D ultrasound. As ground-truth labels are scarce and expensive to obtain, we applied few-shot learning, in which only a small number of manual annotations (n = 9) are used to train a CNN. We compared training a CNN with only a few individually annotated volumes versus many weakly labelled volumes obtained from atlas-based segmentations. This showed that segmentation performance close to intra-observer variability can be obtained with only a handful of manual annotations. Finally, the trained models were applied to a large number (n = 278) of ultrasound image volumes of a diverse, healthy population, obtaining novel US-specific growth curves of the respective structures during the second trimester of gestation.
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 ...study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)—96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13—were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.
Impaired placentation is an important contributing factor to intra-uterine growth restriction and pre-eclampsia in fetuses with congenital heart defects (CHD). These pregnancy complications occur ...more frequently in pregnancies with fetal CHD. One of the most important factors influencing the life of children with CHD is neurodevelopmental delay, which seems to start already in utero. Delayed neurodevelopment in utero may be correlated or even (partly) explained by impaired placentation in CHD cases. This systematic review provides an overview of published literature on placental development in pregnancies with fetal CHD. A systematic search was performed and the Newcastle-Ottawa scale was used to access data quality. Primary outcomes were placenta size and weight, vascular and villous architecture, immunohistochemistry, angiogenic biomarkers and/or placental gene expression. A total of 1161 articles were reviewed and 21 studies were included. Studies including CHD with a genetic disorder or syndrome and/or multiple pregnancies were excluded. Lower placental weight and elevated rates of abnormal umbilical cord insertions were found in CHD. Cases with CHD more frequently showed microscopic placental abnormalities (i.e. abnormal villous maturation and increased maternal vascular malperfusion lesions), reduced levels of angiogenic biomarkers and increased levels of anti-angiogenic biomarkers in maternal serum and umbilical cord blood. Altered gene expression involved in placental development and fetal growth were found in maternal serum and CHD placentas. In conclusion, abnormal placentation is found in CHD. More extensive studies are needed to elucidate the contribution of impaired placentation to delayed neurodevelopment in CHD cases.
•Growth restriction and pre-eclampsia are common in fetal congenital heart disease.•Congenital heart disease is associated with delayed fetal brain development.•Macroscopic, microscopic and (angio)genic alterations are found in these placentas.•Impaired placenta might contribute to the delayed brain development.
Monochorionic twins share a single placenta and are connected with each other through vascular anastomoses. Unbalanced inter-twin blood transfusion may lead to various complications, including ...twin-to-twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS). TAPS was first described less than a decade ago, and the pathogenesis of TAPS results from slow blood transfusion from donor to recipient through a few minuscule vascular anastomoses. This gradually leads to anemia in the donor and polycythemia in the recipient, in the absence of twin oligo-polyhydramnios sequence (TOPS). TAPS may occur spontaneously in 3-5% of monochorionic twins or after laser surgery for TTTS. The prevalence of post-laser TAPS varies from 2% to 16% of TTTS cases, depending on the rate of residual anastomoses. Pre-natal diagnosis of TAPS is currently based on discordant measurements of the middle cerebral artery peak systolic velocity (MCA-PSV; >1.5 multiples of the median MoM in donors and 8 g/dL), and at least one of the following: reticulocyte count ratio >1.7 or minuscule placental anastomoses. Management includes expectant management, and intra-uterine blood transfusion (IUT) with or without partial exchange transfusion (PET) or fetoscopic laser surgery. Post-laser TAPS can be prevented by using the Solomon laser surgery technique. Short-term neonatal outcome ranges from isolated inter-twin Hb differences to severe neonatal morbidity and neonatal death. Long-term neonatal outcome in post-laser TAPS is comparable with long-term outcome after treated TTTS. This review summarizes the current knowledge after 10 years of research on the pathogenesis, diagnosis, management, and outcome in TAPS.
Background
Birthweight (BW) is an important prognostic factor in newborns with congenital heart defects (CHD).
Objectives
To give an overview of the literature on BW z‐score in children with isolated ...CHD.
Search strategy
A systematic search was performed on isolated CHD and BW in PubMed, Embase, Web of Science, COCHRANE Library and Emcare.
Selection criteria
Neonates with isolated CHD were included if a BW percentile, BW z‐score or % small‐or‐gestational age (SGA) was reported.
Data collection and analysis
BW z‐score and percentage SGA were pooled with random‐effect meta‐analysis. Quality and risk of bias were assessed using the modified Newcastle Ottawa Scale.
Main results
Twenty‐three articles (27 893 cases) were included. BW z‐scores were retrieved from 11 articles, resulting in a pooled z‐score of −0.20 (95% CI −0.50 to 0.11). The overall pooled prevalence of SGA <10th percentile was 16.0% (95% CI 11.4–20.5; 14 studies). Subgroup analysis of major CHD showed similar results (BW z‐score −0.23 and percentage SGA 16.2%).
Conclusions
Overall BW in isolated CHD is within range of normality but impaired, with a 1.6‐fold higher risk of SGA, irrespective of the type of CHD (major CHD vs all CHD combined). Our findings underline the association between CHD and BW. The use of BW z‐scores provides insight into growth of all fetuses with CHD.
Tweetable
Infants with a congenital heart defect (CHD) have a lower birthweight z‐score and a higher incidence of small‐for‐gestational age (<10th percentile). This was encountered both in the major CHD‐group as well as in all‐CHD combined group analysis. Future research on the association between birthweight and CHD should include all types of CHDs (including mild cardiac defects) and placental‐related disease, such as pre‐eclampsia. We advocate the use of international standardised fetal growth and birthweight charts in CHD research.
Tweetable
Infants with a congenital heart defect (CHD) have a lower birthweight z‐score and a higher incidence of small‐for‐gestational age (<10th percentile). This was encountered both in the major CHD‐group as well as in all‐CHD combined group analysis. Future research on the association between birthweight and CHD should include all types of CHDs (including mild cardiac defects) and placental‐related disease, such as pre‐eclampsia. We advocate the use of international standardised fetal growth and birthweight charts in CHD research.
OBJECTIVE:To estimate the performance of combining cervical length measurement with fetal fibronectin testing in predicting delivery in women with symptoms of preterm labor.
METHODS:We conducted a ...prospective nationwide cohort study in all 10 perinatal centers in The Netherlands. Women with symptoms of preterm labor between 24 and 34 weeks of gestation with intact membranes were included. In all women, qualitative fibronectin testing (0.050-microgram/mL cutoff) and cervical length measurement were performed. Logistic regression was used to predict spontaneous preterm delivery within 7 days after testing. A risk less than 5%, corresponding to the risk for women with a cervical length of at least 25 mm, was considered as low risk.
RESULTS:Between December 2009 and August 2012, 714 women were enrolled. Fibronectin results and cervical length were available for 665 women, of whom 80 (12%) delivered within 7 days. Women with a cervical length of at least 30 mm or with a cervical length between 15 and 30 mm with a negative fibronectin result were at low risk (less than 5%) of spontaneous delivery within 7 days. Fibronectin testing in case of a cervical length between 15 and 30 mm additionally classified 103 women (15% of the cohort) as low risk and 36 women (5% of the cohort) as high risk.
CONCLUSION:Cervical length measurement, combined with fetal fibronectin testing in case of a cervical length between 15 and 30 mm, improves identification of women with a low risk to deliver spontaneously within 7 days.
LEVEL OF EVIDENCE:II
Objectives
This systematic review explores cardiac adaptation in monochorionic (MC) twins with twin–twin transfusion syndrome (TTTS) or selective fetal growth restriction (sFGR) and assesses the risk ...of congenital heart defects (CHDs).
Methods
Adhering to PRISMA guidelines, 63 studies were reviewed (49 on cardiac adaptation, 13 on CHD, one on both). A narrative synthesis of cardiac adaptation patterns was performed. Additionally, a meta‐analysis compared the livebirth prevalence of CHD in TTTS and sFGR against uncomplicated MC twins.
Results
In TTTS recipients, cardiac function may be impaired for diastolic, systolic, as well as global functions, while in donors, cardiac function is generally preserved. In sFGR, large twins may show hypertrophic cardiomyopathy, and small twins may show impaired systolic function. Co‐occurrence of TTTS and sFGR magnifies cardiac impact but is often underreported. Meta‐analysis for CHD prevalence revealed a relative risk ratio of 3.5 (95% CI: 2.5–4.9) for TTTS and 2.2 (95%CI: 1.3–3.5) for sFGR compared with uncomplicated MC twins.
Conclusions
This study highlights the well‐documented cardiac adaptation in TTTS, contrasting with limited understanding in sFGR. Elevated CHD risks were observed in both conditions. Enhanced cardiovascular surveillance is warranted in complicated MC twin pregnancies. Future research should explore cardiac adaptation in sFGR and its long‐term consequences.
Key points
What is already known about this topic?
Existing literature extensively documents that the hemodynamic imbalance in twin–twin transfusion syndrome (TTTS) induces distinct cardiac adaptation in both the recipient and the donor.
TTTS twins are more prone to congenital heart disease (CHD) than singletons and uncomplicated monochorionic (MC) twins.
What does this review add?
Cardiac adaptation also applies to selective fetal growth restricted (sFGR) twins, affecting both the larger and smaller twins, highlighting a crucial, yet underexplored aspect for future studies.
TTTS twins are 3.5 times and sFGR twins are 2.2 times more likely to develop structural heart defects than uncomplicated MC twins.
Objective
Congenital heart disease (CHD) is associated with decreased birthweight (BW) compared to population‐based references. The aim of this study was to compare the BW of isolated CHD cases to ...their siblings, thus controlling for unknown and unmeasured confounders within the family.
Methods
All isolated CHD cases in the Leiden University Medical Center were included (2002–2019). Generalized estimated equation models were constructed to compare BW z scores of CHD neonates with their siblings. Cases were clustered to minor or severe CHD and stratified according to the aortic flow and oxygenation to the brain.
Results
The overall BW z score of siblings was 0.032 (n = 471). The BW z score was significantly lower in CHD cases (n = 291) compared to their siblings (−0.20, p = 0.005). The results were consistent in the subgroup analysis of severe and minor CHD (BW z score difference −0.20 and −0.10), but did not differ significantly (p = 0.63). Stratified analysis regarding flow and oxygenation showed no BW difference between the groups (p = 0.1).
Conclusion
Isolated CHD cases display a significantly lower BW z score compared to their siblings. As the siblings of these CHD cases show a BW distribution similar to the general population, this suggests that shared environmental and maternal influences between siblings do not explain the difference in BW.
Key points
What is already known about this topic?
Congenital heart disease (CHD) is associated with decreased birthweight (BW) compared to population‐based reference charts.
As both CHD and fetal growth have a multifactorial etiology, the contribution of environmental and maternal factors on impaired BW in CHD is not elucidated.
What does this review add?
Neonates with CHD have a lower BW z score compared to their siblings, while the siblings display a BW distribution similar to the general population.
Environmental or maternal factors may be less important in the pathogenesis of diminished BW in CHD. These findings support the hypothesis of an underlying (epi)genetic factor both influencing cardiac and placental development in CHD.
Three-dimensional (3D) ultrasound imaging has contributed to our understanding of fetal developmental processes by providing rich contextual information of the inherently 3D anatomies. However, its ...use is limited in clinical settings, due to the high purchasing costs and limited diagnostic practicality. Freehand 2D ultrasound imaging, in contrast, is routinely used in standard obstetric exams, but inherently lacks a 3D representation of the anatomies, which limits its potential for more advanced assessment. Such full representations are challenging to recover even with external tracking devices due to internal fetal movement which is independent from the operator-led trajectory of the probe. Capitalizing on the flexibility offered by freehand 2D ultrasound acquisition, we propose ImplicitVol to reconstruct 3D volumes from non-sensor-tracked 2D ultrasound sweeps. Conventionally, reconstructions are performed on a discrete voxel grid. We, however, employ a deep neural network to represent, for the first time, the reconstructed volume as an implicit function. Specifically, ImplicitVol takes a set of 2D images as input, predicts their locations in 3D space, jointly refines the inferred locations, and learns a full volumetric reconstruction. When testing natively-acquired and volume-sampled 2D ultrasound video sequences collected from different manufacturers, the 3D volumes reconstructed by ImplicitVol show significantly better visual and semantic quality than the existing interpolation-based reconstruction approaches. The inherent continuity of implicit representation also enables ImplicitVol to reconstruct the volume to arbitrarily high resolutions. As formulated, ImplicitVol has the potential to integrate seamlessly into the clinical workflow, while providing richer information for diagnosis and evaluation of the developing brain.
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•We propose a framework for sensorless 3D reconstruction from freehand 2D ultrasound.•External positional sensor is impractical due to uncorrelated fetal and probe motion.•Our framework uses implicit neural representation for the 2D-to-3D reconstruction.•It outperforms the baselines on natively-acquired and volume-sampled 2D scans.•Have better visual and semantic quality than existing methods (interpolation-based).
Postprocedural amniotic band disruption sequence is a condition that is associated with intrauterine interventions, and it is characterized by a constriction of the limbs or umbilical cord by fibrous ...strands, leading to edema, amputation, and/or fetal demise.
To evaluate the prevalence of, risk factors for, and the outcome of postprocedural amniotic band disruption sequence after fetoscopic laser surgery in twin-twin transfusion syndrome cases.
: All consecutive cases of twin-twin transfusion syndrome treated with fetoscopic laser coagulation of the vascular anastomoses at our center between January 2002 and March 2019 were included in the study. The occurrence of postprocedural amniotic band disruption sequence in these cases was recorded, and the potential risk factors were analyzed.
Postprocedural amniotic band disruption sequence was detected, at birth, in 2.2% (15/672) of twin-twin transfusion syndrome cases treated with fetoscopic laser surgery, in both the recipients (10/15, 67%) and the donors (5/15, 33%). Postprocedural amniotic band disruption sequence primarily affected the lower extremities (11/15, 73%) and, less frequently, the upper extremities (2/15, 13%), both the upper and lower extremities (1/15, 7%), or the umbilical cord (1/15, 7%). Postprocedural amniotic band disruption sequence led to the amputation of toes in 5 of 15 cases (33%) and resulted in fetal demise because of constriction of the umbilical cord in 1 case (7%). The independent risk factors identified for postprocedural amniotic band disruption sequence were lower gestational age at laser surgery (odds ratio per week, 1.43; 95% confidence interval, 1.12–1.79; P=.003) and the presence of postprocedural chorioamniotic membrane separation on antenatal ultrasound examination (odds ratio, 41.66; 95% confidence interval, 5.44–319.25; P<.001).
The prevalence of postprocedural amniotic band disruption sequence is low, but, when present, it may lead to severe consequences, with amputation of extremities or fetal demise occurring in more than one-third of the cases. Lower gestational age at the time of laser therapy and chorioamniotic membrane separation are independent risk factors for the postprocedural amniotic band disruption sequence.
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