Fetal Diagnosis and Therapy最新文献

Introduction: Neonates with congenital diaphragmatic hernia (CDH) who undergo repair while on extracorporeal membrane oxygenation (ECMO) are at risk of developing post-operative bleeding complications. Balanced anticoagulation is critical to maintain ECMO flow and avoid bleeding. Heparin has historically been our first-line anticoagulant; however, recently, we transitioned to bivalirudin, a direct thrombin inhibitor. The objective of this pilot study was to compare post-operative surgical bleeding complications between the two groups.

Methods: We performed a single center retrospective cohort study of patients who underwent CDH repair while on ECMO between 2008 and 2023. Neonates were stratified based on the type of anticoagulant initiated after CDH repair. Outcomes included bleeding requiring surgical re-operation, intracranial hemorrhage, volume of blood products transfused, number of circuit changes, days on ECMO, and overall survival.

Results: Among 62 neonates with CDH who underwent repair on ECMO, 44 (71%) were managed post-CDH repair with heparin and 18 (29%) with bivalirudin. One (5.6%) neonate managed with bivalirudin underwent re-operation following CDH repair for a bleeding complication compared to 17 (38.6%) managed with heparin (p = 0.022). In addition, the bivalirudin cohort utilized half of the total blood product volume compared to the heparin cohort (p = 0.020). Despite these benefits, there were no significant differences between groups for incidence of intracranial hemorrhage, number of circuit changes, days on ECMO, and overall survival.

Conclusion: Anticoagulation with bivalirudin in neonates who underwent CDH repair while on ECMO was associated with decreased surgical bleeding complications and less total blood product transfused. This pilot analysis is the first to compare heparin to bivalirudin and stresses the importance of a multicenter study.

Introduction: The study investigated whether the disclosure of the chromosomal anomaly causing early pregnancy loss (EPL) favors the grief process and reduces psychological distress.

Methods: Women experiencing EPL were invited to participate in the study at the time they were offered chorionic villi sampling (CVS) and karyotyping before uterine evacuation. They completed two online surveys: one a week after EPL and another a month later, after receiving cytogenetic results. The surveys measured anxiety (Hospital Anxiety and Depression Scale [HADS]), Beck Depression Inventory (BDI-II) cognitive depression factor items, post-traumatic stress disorder (Impact of the Event Scale-Revised [IES-R]), and rumination (Ruminative Responses Scale [RRS-10]). Participants were divided into groups based on the chromosomal anomaly found at CVS: A1 (autosomal trisomy), A2 (other anomalies), and B (no anomalies).

Results: A significant score decline was observed in the four studied psychological scales assessing anxiety, depression, post-traumatic stress, and rumination, between the first and second survey. The proportion of women with a clinical score also demonstrated a significant decline, except for anxiety. When these changes were assessed after karyotypic group stratification, the group with other chromosomal anomalies (A2) showed the highest drop. This group also demonstrated a significantly higher depression score decline at multivariate regression analysis of the median.

Conclusion: EPL significantly impacts women's mental health, with 19%-51% experiencing manifestations. Disclosing chromosomal anomalies may aid in psychological recovery, particularly in reducing clinical scores for depression.

Introduction: This study aimed to evaluate whether the presence of microbial invasion of the amniotic cavity (MIAC) and/or acute histological chorioamnionitis (HCA), as well as their subtypes, in pregnancies complicated by preterm prelabor rupture of membranes (PPROM) is related to the subsequent development of necrotizing enterocolitis (NEC) in newborns from these pregnancies.

Methods: This retrospective study included 295 women with singleton pregnancies complicated by PPROM between gestational ages 24+0 and 31+6 weeks who underwent transabdominal amniocentesis. MIAC was detected using a combination of cultivated and noncultivated methods. HCA was revealed by histopathological examination of the placenta. Only neonates with stage IIa of the modified Bell's criteria were considered to have NEC.

Results: NEC developed in 3% (10/295) of newborns. There were no differences in the rates of MIAC (p = 0.33), HCA with the absence (p = 1.00) or presence of fetal inflammatory response (p = 0.52), and HCA with acute inflammation of the amnion (p = 0.20) between those who developed and did not develop NEC.

Conclusion: Neither MIAC nor HCA was associated with the development of NEC in newborns from singleton pregnancies complicated by PPROM between 24+0 and 31+6 weeks of gestation.

Introduction: Prenatally diagnosed large fetal neck mass requires multidisciplinary consultation and evaluation of perinatal treatment options. The decision to perform ex utero intrapartum treatment (EXIT) is based on risk-benefit assessment for both the infant and mother. Though fetal ultrasound and MRI assist with operative planning, a three-dimensional anatomic model offers improved anatomic visualization and prenatal patient counseling.

Case presentation: Multiple surveillance ultrasound exams between gestational weeks 16 and 32 plus fetal MRI at 29/3 weeks were performed for fetal evaluation. A 3-dimensional model was printed (Form 3 and 3L, clear resin, Formlabs) incorporating fetal MRI (Ax SSFSE TE 100 DL and Cor SSFSE Brain DL) and using Mimics Medical and 3-matic Medical software (Materialise). A left fetal multicystic neck mass measuring 2.1 × 1.8 × 1.5 cm was diagnosed at 16/6 weeks gestation in a G8P2416. Fetal MRI performed at 29/3 weeks showed a large exophytic mixed solid-cystic cervicofacial mass, 10.3 × 9.4 × 10.6 cm arising from the left mandible, concerning for a teratoma. Prior to delivery, the model was used to educate and counsel the family regarding the complex clinical situation and the reasoning for delivery via EXIT followed by mass resection. Additionally, the model demonstrated tracheal narrowing and oropharyngeal compression, supporting airway intervention planning. The fetus was delivered at 32/3 weeks via EXIT to intubation using rigid bronchoscopy. Duration of time on placental support was 12 min. On day of life 5, the patient underwent resection of the cervical mass. Pathology revealed an immature teratoma, histologic grade 3 without yolk sac elements, and negative regional lymph nodes.

Conclusion: Three-dimensional fetal modeling facilitates perinatal airway needs assessment, patient counseling, delivery, and postnatal management.

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.