Fetal Diagnosis and Therapy最新文献

Introduction: Fetal care centers (FCCs) in the USA lack a standardized instrument to measure person-centered care. This study aimed to develop and validate the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale.

Methods: Initial items were developed based on literature and input from clinicians and former patients. A Delphi study involving 16 experts was conducted to validate the content and construct. Through three rounds of online questionnaires using open-ended questions and Likert scales, consensus on item clarity and relevancy was established. The resulting items were then piloted with former fetal care center patients via a web-based survey. The instrument's reliability and validity were validated using Cronbach's α and exploratory factor analysis, respectively. Concurrent validity was assessed by comparing scores with the Revised Patient Perception of Patient-Centeredness (PPPC-R) Questionnaire.

Results: 258 participants completed the 48-item pilot PCC-FCC survey, categorized into six domains. Factor analysis yielded a 2-factor, 28-item scale. Internal consistency of the final scale had good reliability (α = 0.969). Data supported content, construct, and concurrent validity.

Conclusion: The PCC-FCC Scale is a reliable and valid measure of person-centered care in U.S. FCCs. It can be used to enhance services and begin connecting person-centered care to maternal-child health outcomes.

Introduction: The aim of the study was to explore patients' perspectives on diagnosis and treatment options for complicated monochorionic multiple gestations, and experiences with fetoscopic laser photocoagulation.

Methods: This is a prospective cohort study of patients undergoing laser photocoagulation. Participants were interviewed during pregnancy and the postpartum period. Qualitative analysis was performed.

Result: Twenty-seven patients who were candidates for laser photocoagulation were included. All elected to have laser photocoagulation. Patients chose surgery with goals of improving survival, decreasing the risk of preterm delivery, and improving the long-term health of their fetuses. They demonstrated accurate knowledge of the risks and benefits of treatment. Most (74%) felt that laser photocoagulation represented their only viable clinical option. Few seriously considered pregnancy termination or selective reduction (7% and 11% respectively). Postpartum, patients expressed no regrets about their decisions for surgery, but many felt unprepared for the challenges of preterm delivery.

Conclusion: Participants weighed treatment options similarly to fetal specialists. They acknowledged but did not seriously consider treatments other than fetoscopic laser photocoagulation and were highly motivated to do whatever they could to improve outcomes for their fetuses.

Introduction: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens.

Case presentation: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected.

Conclusion: MPPH syndrome with PHPV can be diagnosed prenatally.

Introduction: The aim of this systematic review and meta-analysis was to evaluate fetal cardiac function in fetuses of mothers with diabetes compared to those of mothers without diabetes using 2D-STE.

Methods: Embase, MEDLINE, and CENTRAL were searched for observational studies on 2D-STE fetal left and right ventricular global longitudinal strain and strain rate that included singleton, non-anomalous pregnancies complicated by pregestational or gestational diabetes mellitus compared to uncomplicated pregnancies. The strain values were pooled per 4 weeks of gestation for meta-analysis using random-effects models.

Results: Fifteen studies met the criteria, including 990 fetuses of diabetic mothers and 1,645 control fetuses. The study design was cross-sectional in fourteen studies and longitudinal in one study. Gestational age, type of diabetes, ultrasound device, and 2D-STE software varied between the studies. Glycemic control and type of treatment were often lacking. In fetuses of diabetic mothers versus healthy mothers, left ventricular strain was significantly decreased (7 studies), increased (1 study), or not significantly different (7 studies). Right ventricular strain was decreased (7 studies), increased (1 study), or not different (2 studies). Left ventricular strain rate was decreased (3 studies), increased (1 study), or not different (2 studies). Right ventricular strain rate was increased (1 study) or not different (2 studies).

Conclusion: Fetuses of mothers with diabetes show evidence of systolic dysfunction, which is more visible in the right ventricle. Contradictory results are probably due to suboptimal study designs and variation in gestational age, diabetes severity, image acquisition, and software. Large prospective longitudinal studies are needed to assess fetal myocardial function with 2D-STE in pregestational diabetes mellitus type 1 and 2 and gestational diabetes mellitus pregnancies. The influence of glycemic control, BMI, and treatment should be evaluated.

Introduction: Growth-restricted fetuses may have changes in their neuroanatomical structures that can be detected in prenatal imaging. We aim to compare corpus callosal length (CCL) and cerebellar vermian height (CVH) measurements between fetal growth restriction (FGR) and control fetuses and to correlate them with cerebral Doppler velocimetry in growth-restricted fetuses.

Methods: This was a prospective cohort of FGR after 20 weeks of gestation with ultrasound measurements of CCL and CVH. Control cohort was assembled from fetuses without FGR who had growth ultrasound after 20 weeks of gestation. We compared differences of CCL or CVH between FGR and controls. We also tested for the correlations of CCL and CVH with middle cerebral artery (MCA) pulsatility index (PI) and vertebral artery (VA) PI in the FGR group. CCL and CVH measurements were adjusted by head circumference (HC).

Results: CCL and CVH were obtained in 68 and 55 fetuses, respectively. CCL/HC was smaller in FGR fetuses when compared to control fetuses (difference = 0.03, 95% CI: [0.02, 0.04], p < 0.001). CVH/HC was larger in FGR fetuses compared to NG fetuses (difference = 0.1, 95% CI: [-0.01, 0.02], p = < 0.001). VA PI multiples of the median were inversely correlated with CVH/HC (rho = -0.53, p = 0.007), while CCL/HC was not correlated with VA PI. Neither CCL/HC nor CVH/HC was correlated with MCA PI.

Conclusions: CCL/HC and CVH/HC measurements show differences in growth-restricted fetuses compared to a control cohort. We also found an inverse relationship between VA PI and CVH/HC. The potential use of neurosonography assessment in FGR assessment requires continued explorations.

Introduction: This study evaluated fetal pancreas size and echogenicity, and splenic artery (SA) waveforms in pregnant women with gestational diabetes mellitus (GDM).

Methods: This prospective case-control study was performed from October 2022 to November 2023 and included 124 pregnant women (62 with GDM and 62 controls). Pancreatic circumference, pancreatic echogenicity, umbilical artery Doppler measurements (systolic/diastolic ratio [S/D] and pulsatility index [PI]), SA Doppler measurements (S/D, PI, peak systolic velocity [PSV], time-averaged maximum velocity, and pressure gradient [PG] mean and maximum) values were compared between the GDM and control groups.

Results: The mean pancreatic circumference was higher and grade 2/3 echogenicity was more common in the GDM group, while grade 1 echogenicity was more common in the control group (p < 0.001 and p < 0.001, respectively). SA S/D and PI measurements were significantly higher in the GDM group than in the control group (p < 0.001 and p = 0.001, respectively). Moreover, PGmax was significantly higher in the GDM group than in the control group (p = 0.038). Pancreatic circumference was positively correlated with SA PSV (p = 0.004). Additionally, pancreatic circumference was positively correlated with PGmean and PGmax (p = 0.010 and p = 0.016, respectively). The increase in pancreas echogenicity was positively correlated with SA S/D and PI measurements (p = 0.007 and p = 0.002, respectively). PGmax was also positively correlated with increased pancreas echogenicity (p = 0.023).

Conclusion: This study showed that fetal pancreas size and echogenicity were significantly higher in pregnant women with GDM than in controls. SA Doppler waveforms were consistent with an increase in vascular resistance associated with elevations of both S/D and PI in the GDM group.

Introduction: Suture tensile properties have only been tested in extrauterine environments. Amniotic fluid (AF) is a complex milieu of enzymes and inflammatory factors. This study tested the mechanical properties of sutures with a variety of inherent properties, after exposure to AF from patients with conditions prompting fetal intervention.

Methods: AF was obtained from 3 patients with twin-twin transfusion syndrome (TTTS), and 3 patients with neural tube defects. Six types of 2-0 sutures were placed on 1.2 N of tension to mimic placement in vivo, and incubated in AF at 37°C (98.6°F). These included ethylene terephthalate (Ethibond), glycomer 631 (V-Loc), poliglecaprone 25 (Monocryl), poly-4-hydroxybutyrate (Monomax), polydioxanone (PDS), and polyglactin 910 (Vicryl). Failure load, stress, strain, and initial modulus were tested after 24 h of incubation and after 4 weeks, and compared with control (unincubated) sutures using t tests, Kruskal-Wallis tests, and stress-strain curves.

Results: Poliglecaprone 25 and polyglactin 910 dissolve more quickly in AF compared to outside the uterus, disintegrating at 4 weeks. Ethylene terephthalate and PDS experienced little change across 4 weeks of incubation. Glycomer 631 and poly-4-hydroxybutyrate exhibited interesting behavior in AF: glycomer 631 became more deformable at 24 h but later regained toughness by 4 weeks, while poly-4-hydroxybutyrate became tougher and in some cases stronger with time in AF. As a class, braided sutures act more like rigid materials, and monofilaments act like deformable plastics.

Conclusion: These findings along with other suture characteristics such as ease of handling and availability may inform fetal intervention teams as they optimize procedures in a relatively new surgical field.

Introduction: The purpose was to compare thymus size measured during second trimester screening of fetuses who were subsequently small for gestational age at birth (weight below 10th percentile, SGA group) with fetuses with normal birth weight (control group). We hypothesized that measuring the fetal thymic-thoracic ratio (TT-ratio) might help predict low birth weight.

Methods: Using three-vessel view echocardiograms from our archives, we measured the anteroposterior thymus size and the intrathoracic mediastinal diameter to derive TT-ratios in the SGA (n = 105) and control groups (n = 533) between 19+0 and 21+6 weeks of gestation. We analyzed the association between TT-ratio and SGA adjusted to the week of gestation using logistic regression. Finally, we determined the possible TT-ratio cut-off point for discrimination between SGA and control groups by means of receiver operating characteristics (ROC) curve analysis.

Results: The TT-ratio was significantly higher in the SGA group than in the control group (p < 0.001). An increase of the TT-ratio by 0.1 was associated with a 3.1-fold increase in the odds of diagnosing SGA. We determined that a possible discrimination cut-off point between SGA and healthy controls was achieved using a TT-ratio of 0.390 (area under the ROC curve 0.695).

Conclusion: An increased TT-ratio may represent an additional prenatal screening parameter that improves the prediction of birth weight below the 10th percentile. Prospective studies are now needed to evaluate the use of fetal thymus size as predictive parameter for adverse fetal outcome.

Introduction: To determine lung hypoplasia in cases with fetal skeletal dysplasia based on the total lung weight at autopsy as the most accountable surrogate marker for pulmonary hypoplasia.

Methods: This retrospective cohort study included all pregnancies with antenatal diagnosis of skeletal dysplasia (2012-2018). We included only cases in which information on fetal biometry was available within 2 weeks before delivery and had autopsy and skeletal X-rays + molecular analysis using extracted fetal DNA. We compared the predictive accuracy of fetal sonographic body-proportional ratios (BPRs) including: (1) thoracic circumference-to-abdominal circumference ratio, (2) the femur length-to-abdominal circumference (FL/AC) ratio, (3) head circumference-to-abdominal circumference ratio, and (4) foot length-to-femur length ratio. Lung hypoplasia was defined as total lung weight below -2 SD from the expected mean for gestational age.

Results: Fifty three pregnancies with antenatal diagnosis of skeletal dysplasia underwent autopsy included. Lung hypoplasia was determined in 34 (64.1%). Median of gestational age at last sonographic assessment was 21.3 (19.9-24.9) weeks. FL/AC ratio demonstrated the highest area under the curve of 0.817 (95% CI: 0.685-0.949; p < 0.0001). FL/AC ≤0.1550 demonstrated the highest detection rate of 88.2% along with the highest negative predictive value of 75%.

Conclusion: Using a novel, more practical approach to predict lung hypoplasia in skeletal dysplasia, fetal sonographic BPRs and, specifically, FL/AC ratio demonstrate a high detection rate of lung hypoplasia.

Introduction: Trisomy 22 is a chromosomal disorder rarely encountered prenatally. Even fewer live births are observed and generally correspond to confined placental mosaic trisomy 22, or even more uncommonly, to true fetal mosaic trisomy 22.

Case presentation: We examine and describe a series of seven cases of trisomy 22 encountered prenatally in terms of their cytogenetic and phenotypic presentations and discuss their interrelationships along with case management and outcomes. We aimed to identify aspects of prenatal data suggestive of fetal trisomy 22 and to determine whether a prognosis can be established from these factors.

Conclusion: Our conclusion is that prenatal data elements can provide key elements of information to guide multidisciplinary care and support for the couple and the neonate.