Fetal Diagnosis and Therapy最新文献

Introduction: The USA has the poorest health statistics of any high-income country. Political polarization has risen dramatically; newer safety net programs (the Affordable Care Act [ACA]) are unevenly provided because many Republican-leaning states refused expanded Federal coverage. Democratic programs have reduced physician leadership of medicine. Both have been deleterious. Here, we investigated associations among four key health measures two of which directly impact pregnancy outcomes and two that affect all patients by percentage of each state that voted for the Republican versus Democratic candidate in the 2020 presidential election.

Methods: For each state, we used public, non-partisan databases to assess the incidence of COVID, maternal, and infant mortality per 100,000 population and average life expectancy. Correlations among these four outcome variables and percentage Republican vote were calculated (r), contextualized by measuring associations with related variables including COVID vaccination rates, access to medical care, and incidences of heart disease, obesity, diabetes, gunshot deaths, and automotive fatalities.

Results: COVID mortality, maternal and infant mortality, and life expectancy were highly correlated with percentage Republican ("red") vote per state. If "red" states had vaccination rates equivalent to Democratic-leaning ("blue") states, 72,000 deaths could have been avoided. Overall, "red" states have lower health metrics, reduced access to care, and higher comorbidities.

Conclusion: The percent Republican vote was strongly associated, but not the whole answer, with worse health outcomes for multiple key measures of public health including mortality, access to care, and various comorbidities. Overall, the ACA has improved patient access to care but has also led to "maternity care deserts" disproportionately in rural areas in "red" states. Translating insurance coverage into improved care and outcomes requires further analysis and will require multi-pronged approaches including expanding coverage and incentivizing quality care.

Introduction: The objective of this study was to determine the impact of the stage-based classification of fetal growth restriction (FGR) on the magnitude of FGR, preterm births (PTBs), and birthweight (BW) in a rural population of Madhya Pradesh in Central India.

Methods: The program covered 168 public sector centers for pregnant women and infants that provided services to nearly 220,000 people. The third-trimester assessments included fetal biometry, growth and environment assessments, and Doppler assessments. Fetal growth was staged using the Barcelona protocol as stages 1-4 FGR, small for gestational age, and no FGR. The data from the last ultrasound assessment before childbirth were considered. Regular training programs covering preconception care, antenatal and postnatal care were organized in the local language for the public sector community health workers of the program district. Childbirth outcomes were collected from the obstetric service of the local public sector hospital.

Results: The analysis included 1,229 pregnancies from 2019 to 2023. The overall magnitude of FGR using estimated fetal weight <10th centile was 19.61% and reduced to 13.34% with the stage-based classification. The magnitude of FGR using the stage-based classification reduced from 27.59% in 2019 to 8.95% in 2023. The PTB in the stage-based FGR subgroup declined from 35.0% in 2019 to 3.45% in 2023 and 96.55% of the stage 1 FGR babies in 2023 were delivered at term. The overall mean BW in the program area improved from 2,772.41 (357.11) g in 2019 to 2,819.68 (377.31) g in 2023. The perinatal mortality rate (8.95 per 1,000 pregnancies) in the program area for 2019-2023 was much lower than the 31.9 per 1,000 pregnancies reported for Madhya Pradesh.

Conclusion: The change to a stage-based classification of FGR integrated with low-dose aspirin and fetal Doppler studies reduced the incidence of FGR and PTB and perinatal mortality and increased BW in this rural community.

Background: Foetal megacystis is the enlargement of the foetal bladder seen on prenatal ultrasound. Diagnosing the underlying cause of foetal megacystis in the antenatal period is often challenging due to the many possible underlying aetiologies, including various obstructive and non-obstructive causes.

Summary: The detection of foetal megacystis leads to an extensive diagnostic conundrum. Counselling, prognostication, and prenatal management may prove challenging. Prenatal intervention has been trialled with limited success.

Key messages: This review article aims to be a practical guide to assist with the diagnosis, management and counselling for foetal megacystis in each trimester. It summarizes the evidence for each differential diagnosis and how to distinguish between them.

Introduction: Among the fetal brain anomalies described in cases of congenital infection, callosal insults are rarely cited in medical literature. The aim of this study was to describe the rate and pattern of callosal injury in cytomegalovirus (CMV) fetopathy.

Methods: This retrospective study included fetuses with confirmed CMV-PCR, assessed in a single center. Demographic data including maternal seroconversion info were collected. Dedicated US including neurosonography was performed, with high frequency probes, using TV route whenever feasible. Fetal brain biometry including callosal length and the corpus callosum (CC)/OFD ratio was performed. Length below the 5th centile or morphological abnormalities were considered abnormal. Brain and body morphology were thoroughly assessed, and any abnormal finding reported.

Results: Seventy-two patients were included in our cohort. In 76% infection occurred in the 1st T or periconceptional. In 12 patients, the exact time of infection was inconclusive, including two cases of secondary infection. In 34.7%, a callosal anomaly was observed and it was never isolated. CNS abnormalities included: periventricular hyperechogenicity (PVHE) 55.5%, calcifications 52%, ventriculomegaly 33%, periventricular pseudocysts 31.4%, occipital cysts 22.2%, echogenic ganglionic eminence 30.5%, lentostriatal vasculopathy 26.4%, sulcation abnormalities 22.2%, cerebellar findings 18% and HC below -2 SD 18%. In 19 cases, the CC was short with calcifications in four. In one case, the insult was severe and in another the CC was absent. The most common association with CC insult was PVHE (56%) and calcifications (52%).

Conclusion: Although not referred as a classic brain structure affected by CMV infection, the CC was injured in one-third of our patients, including cases of late infection. The mechanism of disease and the prenatal patterns of callosal involvement in these cases appear to be different from the postnatal patterns and are not reversible. The presence of a callosal injury would imply a worse prognosis and significant increment to the risk of neurodevelopmental impairment.

Introduction: This study aimed to describe the prevalence and risk factors for respiratory complications in monochorionic twins with twin anaemia polycythaemia sequence (TAPS).

Methods: All neonates diagnosed with postnatal TAPS at our center between 2002 and 2023 were included in this retrospective study. The primary outcome was the prevalence of respiratory complications, including respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), and persistent pulmonary hypertension of the newborn (PPHN). Secondary outcomes included need of respiratory support during admission and a risk factor analysis for adverse respiratory outcome.

Results: In our study of 100 postnatally diagnosed TAPS pregnancies, 32% (62/199) experienced RDS and 13% (25/199) had BPD, with no difference between donors and recipients. PPHN occurred in 7% of cases, more frequently in donors (11%, 11/100) than in recipients (3%, 3/100) (OR = 1.3, 95% CI: 0.2-2.6). Lower gestational age at birth and severe foetal anaemia were found to be significant independent risk factors associated with PPHN in TAPS twins (OR = 0.3, 95% CI: 0.1-0.5), respectively (OR = 1.9, 95% CI: 0.8-3.1).

Conclusion: TAPS donor twins have a fourfold increased risk of PPHN due to anaemia compared to recipient twins. Given the life-threatening nature of PPHN, TAPS twins should be born in hospitals equipped to treat it.

Introduction: Cystic fibrosis (CF) is a severe genetic disorder with a carrier frequency of 1 in 30. In Denmark, prenatal testing is offered when there is a family history of CF or ultrasound anomalies suggest an increased risk of the disease. This study evaluates indications for prenatal CF testing and their outcomes.

Methods: Clinical indications and genetic results were analyzed for pregnancies undergoing CF testing in the Central Denmark Region between August 2012 and 2023. The data were categorized according to clinical indication.

Results: Among 302 prenatal CF tests, echogenic bowel (EB) was the most frequent (44.7%, N = 135), leading to identification of one CF-affected fetus (0.7%). The second most common indication was EB together with non-CF-associated ultrasound findings (29.5%, N = 89), with no CF-affected fetuses. Known CF predisposition due to family history (15.6%, N = 47) identified five affected fetuses (10.6%) and 25 carriers (53.2%). No CF cases were detected in other included groups (N = 31).

Conclusion: These data show that EB has a low positive predictive value for cystic fibrosis in the fetus (1:230) in a country with combined first-trimester screening but no systematic preconception or prenatal screening program for cystic fibrosis. Although the relative risk is increased compared to the general population (1:2,500), EB appears to be a marker of limited clinical utility. In settings without dedicated CF screening strategies, this underscores the importance of considering the most effective allocation of diagnostic resources.

Introduction: Twin pregnancies are associated with an increased risk of perinatal morbidity and mortality. Pregnancy complications related to twins, such as fetal growth restriction, and twin-to-twin transfusion syndrome (TTTS), are associated with hemodynamic changes in the fetal heart. Two-dimensional speckle tracking echocardiography (2D STE) is a tool to evaluate fetal cardiac function. This paper aims to review the literature regarding global longitudinal strain (rate) and peak systolic strain (rate) assessed with 2D STE in twin pregnancies. Feasibility, frame rate, and angle of the fetal heart at the time of measurement were selected as secondary outcomes.

Methods: The databases Medline, Embase, Scopus, and Web of Science were searched.

Results: Seven articles met the inclusion criteria and selected all monochorionic diamniotic (MCDA) twins with TTTS as the study population. The global longitudinal strain in the right and left ventricle and the peak systolic strain in the right ventricle of the recipient MCDA twin are significantly decreased compared to the donor MCDA twin. 2D STE assessment was shown feasible and reproducible in MCDA pregnancies. Large heterogeneity in technical characteristics between the articles induces inconsistent results.

Conclusion: Although feasible, the knowledge of 2D STE is very limited in twin pregnancy. Prospective studies are needed to evaluate the 2D STE assessment in uncomplicated twin pregnancies considering its possible additive value in the diagnostics of pregnancy-related pathologies.

Introduction: Accurate assessment of fetal supraventricular tachycardia (SVT) frequency is critical for deciding treatment strategies. In this study, we evaluated the potential of prolonged non-invasive fetal electrocardiography (fECG) monitoring for assessing SVT and guiding therapy.

Case presentation: A 37-year-old woman at 28 weeks of gestation was referred to our hospital for fetal tachycardia. The patient was diagnosed with fetal arrhythmia, including occasional premature atrial contractions and SVT. Fetal heart rate monitoring using Doppler-based cardiotocography (CTG) with external transducers was insufficient for accurate frequency evaluation; moreover, brief fetal echocardiography was inadequate due to marked diurnal variation in SVT frequency. Prolonged fECG monitoring at 29 and 31 weeks of gestation revealed that SVT did not persist for 12 or more hours or for more than 50% of the monitoring period, indicating a low risk for fetal hydrops. The pregnancy proceeded normally, and the infant was born healthy at 38 weeks.

Conclusion: This report suggests that prolonged fECG monitoring is a more reliable and less invasive method for assessing fetal SVT frequency compared with traditional CTG or fetal echocardiography. Furthermore, it provides a non-invasive and accurate approach for evaluating the need for fetal therapy, especially in arrhythmia cases where frequency assessment is essential.

Introduction: Twin reversed arterial perfusion (TRAP) sequence is a rare condition complicating monozygotic multiple gestations. Prenatal management via umbilical cord occlusion (UCO) of the anomalous twin has been shown to improve pump twin survival. We compared outcomes of gestations with high-risk TRAP sequence treated with mid-trimester UCO using laser photocoagulation versus radiofrequency ablation (RFA).

Methods: This is a retrospective, single-center, cohort study of all patients with high-risk TRAP sequence who underwent UCO from 2006-2023. High-risk criteria were defined as follows: larger abdominal circumference of the anomalous twin, polyhydramnios, critically abnormal Doppler waveforms in the pump twin, hydrops in the pump twin, and/or monoamniotic twins. The primary outcome was 30-day survival of the pump twin.

Results: The 74 patients were divided equally between the laser and RFA groups. For the 2 groups, mean gestational age (GA) at UCO (20.5 ± 2.3 vs. 20.7 ± 3.1 weeks, p = 0.987) and mean GA at delivery (35.2 ± 4.6 vs. 34.5 ± 5.7 weeks, p = 0.812) were similar. The 30-day neonatal survival rate did not differ (91.9% [34/37] vs. 89.2% [33/37], OR: 1.37 [0.29-6.61], p = 0.692).

Conclusion: No difference in 30-day neonatal survival was identified in patients with high-risk TRAP sequence who underwent mid-trimester UCO by laser versus RFA.

Introduction: Selective fetal growth restriction (sFGR) complicates 10-15% of monochorionic twin gestations. Prior studies reported neonatal cardiac hypertrophy present in 25% of twins impacted by sFGR, most commonly the larger twin (80%). Our primary objective was to characterize fetal cardiac structural and functional echocardiogram findings in sFGR twins.

Methods: A retrospective cohort analysis was performed of monochorionic twin pregnancies complicated by type II or type III sFGR managed and delivered at a single tertiary center from 2015 to 2023. Patients diagnosed with twin to twin transfusion syndrome, twin anemia-polycythemia sequence, or undergoing laser treatment for any indication were excluded. All twin pairs underwent fetal echocardiogram by board-certified pediatric cardiologists at our center. In cases of abnormal fetal echocardiograms, a pediatric echocardiogram was performed after birth. Clinically relevant data were obtained from electronic medical records. Right and left myocardial performance index (MPI) were calculated incorporating ejection, isovolumetric contraction, and isovolumetric relaxation times as well as combined cardiac output, cardiac hypertrophy, and tricuspid regurgitation.

Results: During the study period, 35 pregnancies complicated by type II or type III sFGR were managed by our team. Two patients were excluded as they did not undergo fetal echocardiograms as planned. The remaining 33 twin pairs underwent echocardiogram analysis at 20 weeks ± 6 days on average. Compared to the sFGR fetuses, appropriate for gestational age (AGA) fetuses were more likely to have tricuspid regurgitation (TR, 37 vs. 9%, p = 0.02), right ventricular hypertrophy (RVH, 42 vs. 9%, p = 0.003), left ventricular hypertrophy (31 vs. 3%, p = 0.006), elevated right MPI (0.36 [0.26, 0.49] vs. 0.29 [0.24, 0.35], p = 0.03), and elevated left MPI (0.32 [0.29, 0.47] vs. 0.29 [0.25, 0.35], p = 0.02). No difference was noted in combined cardiac output (534 [483, 596] vs. 522 [447, 596], p = 0.41). At birth, 55% (6/11) of AGA fetuses with abnormal fetal echocardiograms had RVH and TR compared to 25% (1/4) of sFGR fetuses.

Conclusion: In this cohort of expectantly managed monochorionic twins complicated by type II and type III sFGR, larger twins were noted to have several findings consistent with hemodynamic changes which could reflect cardiac overload in the prenatal period. In addition, these may persist during neonatal life. Further assessment of neonatal and pediatric outcomes is needed to determine the long-term implications of these sonographic findings.