Fetal Diagnosis and Therapy最新文献

Introduction: Data on near- and long-term clinical outcomes are critical for the care of all maternal-fetal patients presenting to a fetal center. This is especially important since physiologic and neurodevelopmental attributes do not manifest until later childhood when multilevel (e.g., individual, family, policy) factors have a direct influence on health outcomes. Electronic health records (EHRs) create opportunity for efficient data collection. However, documentation structures are not designed for acquisition of key attributes, and changes over time and between-clinician differences can affect resultant output. Therefore, EHR derived datasets have limited ability to accurately characterize the clinical presentation and care trajectory of patients with congenital anomalies. In addition, in most systems, the fetus lacks a digital identity and requires relinking fetal attributes documented in the maternal chart to those from the pediatric EHR. This conundrum amplifies in the setting of multiple gestation, returning maternal patients, and pregnancies with fetal demise. Moreover, current data capture systems result in incomplete abstraction of variables that may confound, mediate, or moderate critical associations. Our objective was to develop and implement a prospective data capture platform to transform EHR data into an analytic-grade database for multipurpose use.

Methods: A unified platform for longitudinal follow-up of maternal-child dyads cared for at our fetal center, named the Clinical Outcomes Data Archive (CODA), was constructed. CODA was designed using a data dictionary based on multidisciplinary and interprofessional expert input, a relational identity for each patient, fetus, and pregnancy, and a process by which EHR-sourced and chart-abstracted data are validated by a well-trained team. Descriptive analyses were performed for data acquired between July 2022 and July 2023, and a comparison of studies before and after implementation of CODA is presented.

Conclusion: 5,394,106 data points were validated for 7,662 patients across 12 conditions. 2% of data points were found to be unreliable or undocumented. 91% of data points were sourced from the EHR. Eighty-five percent of condition-specific variables required manual chart abstraction. The study conducted with CODA was able to contribute to 18 other studies. CODA successfully merges EHR-sourced and manually abstracted documentation for longitudinal study of the maternal-child dyad.

Introduction - This study aimed to describe the rate and pattern of callosal injury in CMV fetopathy. Methods - This retrospective study included fetuses with confirmed CMV-PCR. Dedicated US including neurosonography was performed. Callosal Length below the 5th centile or morphological abnormalities were considered abnormal. Any additional abnormal findings were reported. Results - Seventy-two patients were included. In 76% infection occurred in the 1stT or periconceptional. 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 precaudate germinal matrix 30.5%, LSV 26.4%, sulcation abnormalities 22.2%, cerebellar findings 18% and HC below -2SD 18%. The most common association with CC insult was PVHE (56%) and calcifications (52%). Conclusion - Although not referred to 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 a significant increment in the risk of neurodevelopmental impairment.

Introduction: Double outlet left ventricle (DOLV) is a rare congenital heart anomaly, and cases of DOLV with an intact ventricular septum are uncommon. To date, only four such cases have been reported in the medical literature.

Case presentation: This report presents a case of prenatally diagnosed DOLV. A fetal echocardiogram at 21 weeks of gestation demonstrated both great arteries, aorta and pulmonary artery, arising from the left ventricle with severely dysplastic tricuspid valve and severe hypoplasia of the right ventricle. Subsequent echocardiograms demonstrated no ventricular septal defect. The patient required balloon atrial septostomy in the first week of life, underwent pulmonary artery banding at 5 weeks of life, and is currently status post-bidirectional Glenn, and is awaiting final Fontan palliation.

Conclusion: Prenatal diagnosis aided in predicting and guiding postnatal management.

Introduction: Twin pregnancy is associated with higher rates of maternal morbidities including gestational diabetes and hypertension. Dichorionic twins are believed to have greater placental mass. Our objective was to study the incidence of two placenta-related disorders: gestational diabetes and hypertension, in dichorionic versus monochorionic twin pregnancies.

Methods: Patients' data of all consecutive twin pregnancies over a period of 12 years were collected from medical records. Data on chorionicity were retrieved from 1st trimester ultrasound reports. Maternal complications including gestational hypertension and diabetes were collected, and incidence was compared between dichorionic and monochorionic twin pregnancies. Records lacking chorionicity data and cases with pregestational diabetes were excluded.

Results: A total of 960 twin pregnancies, 121 monochorionic and 839 dichorionic, were included. Average maternal age did not differ significantly between the groups. The median gestational age at delivery was 36.0 weeks in monochorionic and 36.7 in dichorionic twins. Primiparity (40.4% vs. 23.1%, p < 0.001) and the rate of infertility treatments (51.5% vs. 7.4%, p < 0.001) were both more common in the dichorionic group. The incidence of gestational hypertension disorders was 14% in monochorionic versus 11% in dichorionic twins (p = 0.36). Gestational diabetes was more common in dichorionic compared to monochorionic twins (9.4% and 2.5%, respectively); however, logistic multivariate analysis showed that gestational diabetes was highly correlated with maternal age (p < 0.001) and infertility treatments (p < 0.001) but not with chorionicity (p = 0.136).

Conclusion: Our results may imply that greater placental mass does not increase the risk for gestational hypertension and diabetes. This might support the role of additional multiple maternal factors associated with these complications.

Introduction: To compare the blood volume transfused for fetal anemia in cases of placental chorioangioma versus red blood cell (RBC) alloimmunization in patients matched for gestational age (GA) and hydrops.

Methods: Study patients had intrauterine transfusions and were obtained from 3 sources: group (1) placental chorioangioma patients treated at our center (2016-2023); group (2) placental chorioangioma patients reported in the medical literature; and group (3) RBC alloimmunization patients treated for fetal anemia at our center (2016-2023) matched (2:1) to patients in groups 1 and 2 by GA at procedure and presence of hydrops. The expected volume (cc) of transfusion was calculated for all patients based on a formula commonly used for fetal anemia in cases of RBC alloimmunization that includes the GA at procedure, pre-transfusion hemoglobin, donor hemoglobin, and target hemoglobin. The ratio of the volume actually transfused to the expected volume was calculated for each group and for groups 1 and 2 combined; comparisons were made using nonparametric testing.

Results: By group, the patients studied included: (1) 7 treated chorioangioma patients, (2) 8 chorioangioma patients described in the literature, and (3) 30 matched RBC alloimmunization patients. The median (range) GA at procedure for groups 1, 2, and 3 was 29.6 (22.7-32.7), 27.0 (24.0-30.0), 28.4 (22.7-34.3) weeks. The median pre-procedure hemoglobin for each group was 8.5 (5.8-12.5), 6.7 (5.6-12.0), and 5.3 (2.2-10.7) g/dL, and the median post-procedure hemoglobin for each group was 12.9 (11.5-14.0), 12.7 (9.6-14.7), and 13.6 (8.0-15.7) g/dL. The median (range) ratio of the actual to the expected volume transfused for each group was 2.50 (1.79-8.33), 1.64 (1.11-3.85), and 1.10 (0.69-1.86) (p < 0.001). When groups 1 and 2 were combined, the median ratio was 1.89 (1.11-8.33), which remained statistically significant when compared to group 3 (p < 0.001).

Conclusion: Intrauterine transfusion for fetal anemia in cases of large placental chorioangiomas appeared to require nearly twice the blood volume that was normally anticipated for cases of RBC alloimmunization, although the actual amount transfused varied widely.

Introduction: Congenital pulmonary airway malformations (CPAM), intra- and extralobar bronchopulmonary sequestrations (iBPS/eBPS), CPAM-BPS hybrid lesions (HL), congenital lobar emphysema (CLE), bronchial atresia (BA), and foregut duplication cysts (FDC), collectively referred to as congenital thoracic lesions (CTL), are mostly solitary. Patients with multiple CTL are rare, and reports on such cases are scarce. To address this dearth, we analyzed a large multifocal CTL patient cohort.

Methods: Retrospective chart review of patients born between September 1, 2013, and March 31, 2023, who underwent surgery for a CTL at our tertiary center. Patients with radiological and surgical diagnosis of multifocal CTL, defined as ≥2 CTL present in more than one lobe were included to record pre-, peri-, and postnatal patient characteristics.

Results: Among 701 CTL patients, 74 (10.5%) had multiple CTL. CTL multifocality was prenatally recognized correctly in 8 (12.9%) patients. Most multiple CTL were right-sided, unilateral multilobar lesions (n = 33, 44%). Bilateral CTL were found in 9 (12.1%) patients. CPAM-CPAM lesions were the most prevalent CTL types (n = 36, 49%). Genetic syndromes were confirmed in 3 (4%) and additional congenital anomalies in 9 (12.9%) patients, 5 of those had multiple congenital anomalies. Of 49 (65%) patients with multilobar CTL, 25 (51%) underwent bilobectomy and 24 (49%) lung-sparing surgery. Length of stay was similar. Mortality was 5.4%.

Conclusion: We report on the largest patient cohort with multiple CTL to date. Multiple CTL occurred in 1/10 patients with CTL, and only 12.9% were recognized prenatally. Lung-sparing surgery can be considered. Multiple additional congenital anomalies and genetic syndromes may be more common and genetic testing should be considered. Overall, outcomes in this patient population are favorable.