Fetal Diagnosis and Therapy最新文献

Introduction: Arhinencephaly have been identified as a significant feature in CHARGE syndrome. This study aimed to evaluate the diagnostic role of olfactory sulci (OS) in identifying CHARGE syndrome among fetuses with major congenital heart defects (CHDs).

Methods: We prospectively evaluated OS development in fetuses diagnosed with CHDs from 2017 to 2021. Neurosonography was performed using transabdominal and transvaginal approaches after 30 weeks of gestation. OS assessment was conducted in the trans-frontal coronal plane, classifying their appearance as fully developed, hypoplastic, or absent. Abnormal OS cases underwent MRI and trio-based clinical exome sequencing (CES).

Results: The study included 147 fetuses with CHD. Abnormal OS were found in 4 fetuses (2.7%) which also exhibited other additional anomalies. OS were absent in cases 1-3 and hypoplastic in case 4. MRI confirmed OS abnormalities in all cases, and trio-based CES identified a CHD7 gene mutation in cases 1, 2, and 4, supporting the diagnosis of CHARGE syndrome. Case 3 had normal trio-based CES results. No other CHARGE syndrome cases were diagnosed postnatally among the cases with normal OS.

Conclusions: Systematic evaluation of OS in fetuses with major CHD might contribute to the diagnosis of CHARGE syndrome. Our findings support the inclusion of OS assessment in the prenatal evaluation of fetuses with major CHDs.

Introduction: This study evaluated the surgical details and outcomes of fetal myelomeningocele (MMC) repair using a minimally invasive fetoscopic approach with uterine exposure.

Methods: This retrospective case series study examines consecutive fetuses who underwent fetoscopic spina bifida repair performed by a single team. The pregnant women's demographic data, surgical technical aspects, complications, and neonatal surgical outcomes were analyzed.

Results: From 2019 to 2022, 32 fetuses underwent the fetoscopic repair of MMC at an average gestational age of 25.2 ± 0.9 weeks (range 23.2-26.6). Dura mater collagen substitutes were used for duraplasty in all cases, and in three, an additional myofascial flap was used. There were no significant maternal complications. Overall perinatal complication rate was 18% (6/32), including a perinatal mortality rate of 12.5% (4/32) and two cases of skin suture dehiscence. No cases of cerebrospinal fluid (CSF) leakage were observed. The mean gestational age at birth was 34.6 ± 3.6 weeks, and 31% of deliveries were vaginal. Among the 28 neonates followed for at least 12 months, and only 14% required CSF diversion.

Conclusion: Exteriorized uterus fetoscopic repair of MMC proved safe for the mother and effective in closing the neural tube defect. It also reduced the necessity for CSF diversion and preserved uterine function for future pregnancies. These findings endorse the potential of minimally invasive techniques in fetal MMC repair.

Background: This review of genomic perinatal opportunities and uses will provide counseling and personal genetic knowledge for improved patient care.

Summary: This focused systematic analysis and review has used PubMed keywords to identify genomic testing for ultrasound-identified fetal anomaly(ies) that require diagnostic testing after an informed consent process. Multiple fetal anomalies, using TRIO sequencing processes, have a better diagnostic yield, with certain cohorts >50%. For the single anatomic categories, skeletal system, central nervous system, and renal system, using WES fetal sequencing (most commonly) for a diagnostic result, have the larger incremental diagnostic yield over the chromosome micro-array.

Key messages: The phenotype-genotype (fetal-genomic result) consideration and use of the prenatal exome sequencing technology can be summarized using a SWOT analysis: strength (enhanced evaluation of fetal-neonatal genomic abnormalities not identified by standard chromosomal microarray and improved ethical care decisions); weakness (the understanding and complexity of genomic pathology and testing/the fiscal cost for professional time and the health system services); opportunity (an increased recognition of fetal genetic risk pathology [de novo or inherited carrier mutations] with improved understanding and knowledge translation of counseling for recurrence risk); threat (inability to provide a genetic diagnosis or interpret a variant of unknown significance or the discovery of incidental findings or unanticipated parental genomic diagnoses).

Introduction: Delivery room (DR) interventions for infants with congenital diaphragmatic hernia (CDH) are not well described. This study sought to describe timing and order of DR interventions and identify system factors impacting CDH DR resuscitations using a human factors framework.

Methods: This was a single-center observational study of video-recorded CDH DR resuscitations documenting timing and order of interventions. The team used the Systems Engineering Initiative for Patient Safety (SEIPS) model to identify system factors impacting DR resuscitations and time to invasive ventilation.

Results: We analyzed 31 video-recorded CDH resuscitations. We observed variability in timing and order of resuscitation tasks. The "Internal Environment" and "Tasks" components of the SEIPS model were prominent factors affecting resuscitation efficiency; significant room and bed spatial constraints exist, and nurses have a significant task burden. Additionally, endotracheal tube preparation was a prominent barrier to timely invasive ventilation.

Conclusion: Video review revealed variation in event timing and order during CDH resuscitations. Standardization of the room setup, equipment, and event order and reallocation of tasks facilitate more efficient intubation and ventilation, representing targets for CDH DR improvement initiatives. This work emphasizes the utility of rigorous human factors review to identify areas for improvement during DR resuscitation.

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.