Volume 06 · Issue 03 · 2024

福山先天性肌营养不良症（FCMD）是一种常染色体隐性疾病，由Fukuyama于1960年首次描述。¹它通常表现为婴儿期的全身性肌肉无力和张力减退，通常需要辅助设备来移动。患者经常表现出认知缺陷、不同程度的癫痫发作和特定的神经影像学表现，如微多脑回、脑积水和小脑畸形。也可能出现眼部异常，包括视网膜脱离。预后各不相同，许多人经历进行性肌肉无力和神经退化，导致严重残疾。突变FKTN基因，在糖基化途径中至关重要，是根本原因。及时的基因检测和彻底的临床评估对于有效的管理和咨询至关重要。

To identify the occurrence of the amniotic deformity adhesions, mutilation (ADAM) complex and imperative role of fetal autopsy in diagnosing this condition.

A retrospective descriptive study spanning nine years, from January 2014 to January 2022, was conducted at the Department of Pathology within a tertiary care hospital in South India. The study focused on analyzing the clinical presentation, prenatal ultrasonogram, and morphological features of fetuses with the ADAM complex, limb body wall complex, or amniotic bands.

Among the 438 fetuses assessed during the study period, five fetuses showed features of the ADAM complex (0.01 %). The most frequent gestational age observed was 12-18 weeks and most fetuses were female. The common anomaly encountered was limb defects, followed by abdominal and cranial anomalies.

The diagnosis of the ADAM complex relies primarily on fetal autopsy to differentiate it from similar conditions like anencephaly or body-stalk anomalies. The pathologist plays a crucial role in understanding the complexities of the ADAM complex. Advanced antenatal imaging and therapies offer potential for prevention through improved counseling.

To determine whether deep learning algorithms are suitable for predicting preterm birth.

A retrospective study was conducted at Peking University Third Hospital from January 2018 to June 2023. Birth data were divided into two parts based on the date of delivery: the first part was used for model training and validation, while real world viability was evaluated using the second part. Four machine learning algorithms (logistic regression, random forest, support vector machine, and transformer) were employed to predict preterm birth. Receiver operating characteristic curves were plotted, and the area under the curve (AUC), sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy were calculated.

This research included data on 30,965 births, where 24,770 comprised the first part, and included 3164 (12.77%) in the preterm birth group, with 6195 in the second part, including 795 (12.83%) in the preterm birth group. Significant differences in various factors were observed between the preterm and full-term birth groups. The transformer model (AUC = 79.20%, sensitivity = 73.67%, specificity = 72.48%, PPV = 28.21%, NPV = 94.95%, and accuracy = 72.61 % in the test dataset) demonstrated superior performance relative to logistic regression (AUC = 77.96% in the test dataset), support vector machine (AUC = 71.70% in the test dataset), and random forest (AUC = 75.09% in the test dataset) approaches.

This study highlights the promise of deep learning algorithms, specifically the transformer algorithm, for predicting preterm birth.

To use fetal heart quantification (fetal HQ) technology to compare the coarctation of the aorta (CoA) and normal fetal heart structure and systolic function and to assess whether there are abnormalities in the fetal heart structure and systolic function associated with CoA.

This prospective cohort study was conducted from May 2020 to December 2022 and involved 18-40-week-old singleton pregnancies and 30 fetuses diagnosed with CoA using fetal echocardiography at the General Hospital of Ningxia Medical University and Peking University First Hospital Ningxia Women’s and Children’s Hospital, China. The control group contained 60 normal fetuses. The following parameters were recorded and analyzed statistically: four-chamber view (4CV) end-diastolic long diameter, 4CV epicardial-contralateral epicardial transverse maximum diameter, 4CV global sphericity index (GSI), left ventricular (LV) and right ventricular (RV) 24-segment end-diastolic diameter (EDD), 24-segment sphericity index (SI), LV-fractional area change (LV-FAC), LV-longitudinal strain (LV-LS), RV-fractional area change (RV-FAC), RV-longitudinal strain (RV-LS), and LV and RV 24-segment transverse fractional shortening (FS). Measurement data were compared between the two groups using an independent sample t test, with P < 0.05 indicating statistically significant differences. Moreover, the correlation between gestational age and GSI, LV-FAC, LV-LS, RV-FAC, and RV-LS was assessed.

Within and between observer comparisons of the parameters associated with major cardiac function revealed an intragroup correlation coefficient of >0.9, indicating high consistency, and a coefficient of variable of <1 %, indicating low variability. Correlation analysis revealed no obvious correlation between gestational age and GSI, LV-FAC, LV-LS, RV-FAC, and RV-LS. A comparison of the four-chamber morphological structural parameters of the hearts in the two groups revealed that when compared with the control group, the 4CV end-diastolic long diameter was shortened in fetuses in the CoA group and the epicardial-contralateral epicardial transverse maximum diameter was wider, while the GSI was lower (P < 0.05). A comparison of the LV and RV morphological structure parameters between the two groups revealed that when compared with the control group, the LV’s 24-segment EDD was smaller in the CoA group, the RV’s 24-segment EDD was greater in the control group, the SI of the LV’s segments 16-24 was greater than in the control group, and the SI of the RV’s segments 7-24 was less than in the control group (all P < 0.05). When compared with fetuses in the control group, the LV’s segments 16-24 were greater in the CoA group, whereas the RV’s segment 6-24 was smaller (P < 0.05). When compared with the control group, LV-FAC, RV-FAC, and LS were lower in the CoA group (P < 0.05). The FS of the LV segments 1-24 and the FS of the RV segments 1-16 were smaller in the CoA group than in the normal group (P < 0.05).

Fetal HQ, a new simple technique that offers rapid analysis and high repeatability, can quantitatively evaluate structural and systolic function changes in fetuses with CoA.

To report the clinical maternal and fetal outcomes of pregnant women with coronavirus disease 2019 (COVID-19), along with any associated pregnancy complications, in Hong Kong, China, and to assess the impact of COVID-19 vaccination on these outcomes.

This prospective registry-based observational study included pregnant women who were recruited through convenient sampling and had a laboratory-confirmed severe acute respiratory syndrome coronavirus 2 infection with a cycle threshold (Ct) value result available on admission to eight local hospitals in Hong Kong, China. Data on clinical symptoms, laboratory results, medical treatments, delivery timing and mode, and pregnancy complications were extracted from the Hospital Authority’s electronic medical record system. Maternal, fetal, and pregnancy outcomes were compared between unvaccinated pregnant women with COVID-19 and those who had received at least one dose of COVID-19 vaccine before diagnosis. Nonparametric continuous variables and categorical variables were analyzed using the Mann-Whitney U test and the Pearson’s chi-squared test respectively. A P value less than 0.05 was considered statistically significant.

A total of 164 pregnant women were included, of whom 78 (47.56%) were nulliparous. COVID-19 was diagnosed before 28 weeks’ gestation in 30 (18.29%), while 134 (81.71 %) were diagnosed at or after 28 weeks’ gestation. Sixty-two (37.80%) women received at least one dose of COVID-19 vaccine. There were no significant differences between vaccinated and unvaccinated groups in the time interval between COVID-19 diagnosis and delivery, the Ct value, and the gestational age at infection onset or delivery (P > 0.05). The majority of women were symptomatic at diagnosis regardless of vaccination status (55 (88.71%) in vaccinated group vs. 78 (76.47%) in unvaccinated group (P = 0.052). Symptoms did not significantly differ between groups except for cough (62.90% vs. 47.06%, P = 0.049). The overall rate of severe COVID-19 in pregnant women was low. In total, 5 (3.05%) patients experienced severe COVID-19, with vaccinated patients more likely to receive low molecular weight heparin (LMWH) as part of their treatment (62.90% vs. 42.16%, P = 0.010). Ninety-two (56.10%) women had a spontaneous vaginal delivery, 7 (4.27%) had an instrumental delivery, and 44 (26.83%) and 21 (12.80%) underwent emergency and elective cesarean sections respectively. For fetal outcomes, 14 (8.48%) babies were born preterm and four (2.65% of nonpreterm babies, n = 151) had low birthweight. The median birthweight percentile was 52.18^th. There were no statistically significant differences in pregnancy complications or fetal outcomes between vaccinated and unvaccinated groups.

The overall rate of severe COVID-19 in pregnant women was low. COVID-19 vaccination did not significantly impact maternal outcomes, except for the use of LMWH. Additionally, the study found no significant differences in fetal outcomes and pregnancy complications between vaccinated and unvaccinated individuals.

To investigate the morphological and ultrastructural alterations in placentas from pregnancies with gestational diabetes mellitus (GDM)-induced macrosomia, term nondiabetic macrosomia, and normal pregnancies.

Sixty full-term placentas were collected, and clinical data along with informed consent were obtained from pregnant women who underwent regular visit checks and delivered their newborns in Northwest Women’s and Children’s Hospital between May and December 2022. Placentas were divided into three equal groups: normal pregnancy (control group), nondiabetic macrosomia group, and macrosomia complicated with GDM (diabetic macrosomia) group. Gross morphological data of placentas were recorded, and placental samples were processed for examination of ultrastructural and stereological changes using transmission electron microscopy. Analysis of variance and chi-squared test were used to examine the differences among the three groups for continuous and categorical variables, respectively.

The baseline characteristics of mothers and neonates did not differ across the three groups, except for a significantly higher birth weight in the diabetic macrosomia group (4172.00 ± 151.20 g vs. 3192.00 ± 328.70 g, P < 0.001) and nondiabetic macrosomia group (4138.00 ± 115.20 g vs. 3192.00 ± 328.70 g, P < 0.001) compared with control group. Examination of the placentas revealed that placental weight was also highest in the diabetic macrosomia group compared with control group (810.00 ± 15.81 g vs. 490.00 ± 51.48 g, P < 0.001) and nondiabetic macrosomia group (810.00 ± 15.81 g vs. 684.00 ± 62.69 g, P < 0.001), but the ratio of neonatal birth weight to placental weight (BW/PW) was significantly lower in the diabetic macrosomia group compared with that in the control group (5.15 ± 0.19 vs. 6.54 ± 0.63, P < 0.001) and nondiabetic macrosomia group (5.15 ± 0.19 vs. 6.09 ± 0.52, P < 0.001) group. In contrast, the BW/PW ratio in nondiabetic macrosomia did not differ significantly from that in the control group. Distinct ultrastructural changes in terminal villi and stereological alterations in microvilli were observed in the diabetic macrosomia group, including changes in the appearance of cytoplasmic organelles and the fetal capillary endothelium and thickness of the vasculo-syncytial membrane and basal membrane.

Significant ultrastructural and stereological alterations were discovered in the placentas from pregnant women with macrosomia induced by GDM. These alterations may be the response of the placenta to the hyperglycemia condition encountered during pregnancies complicated with GDM.

To evaluate the performance of optical genome mapping (OGM) in identifying an inversion located in the short arm of chromosome 8 (8p, 8p23.1), flanked by regions of complex segmental duplication (SD), using the GRCh38 and telomere-to-telomere (T2T) genome references.

We investigated a couple suspected of carrying the 8p23.1 inversion due to a terminal deletion combined with an interstitial duplication of 8p found in their abortus. OGM was performed on both individuals. The data were mapped to the current GRCh38 and the updated T2T genome references, respectively.

The 8p23.1 inversion was observed in the female when mapping OGM data to the T2T assembly. In contrast, under the GRCh38 reference, the orientation between the suspected breakpoints within the SD regions could not be distinguished. Additional variants of uncertain significance were also identified in both individuals.

Our findings highlight the superiority of the T2T reference in recognizing structural variations involving SD regions. The enhanced SV detection using the T2T reference may contribute to a better understanding of genome instability and human diseases.

Fetal heart rate (FHR) monitoring is one of the central parts of obstetric care. Ultrasound-based technologies such as cardiotocography (CTG) remain the most common method for FHR monitoring. The CTG’s limitations, including subjective interpretation, high interobserver variability, and the need for skilled professionals, led to the development of computerized CTG (cCTG). While cCTG demonstrated advantages, its superiority over visual interpretation remains inconclusive. This has prompted the exploration of alternatives like noninvasive fetal electrocardiography (NIFECG). This review explores the landscape of antenatal FHR monitoring and the need for remote FHR monitoring in a patient-centered care model. Additionally, FHR monitoring needs to evolve from the traditional approach to incorporate artificial intelligence and machine learning. The review underscores the importance of aligning fetal monitoring with modern healthcare, leveraging artificial intelligence algorithms for accurate assessments, and enhancing patient engagement. The physiology of FHR variability (FHRV) is explained emphasizing its significance in assessing fetal well-being. Other measures of FHRV and their relevance are described. It delves into the promising realm of NIFECG, detailing its history and recent technological advancements. The potential advantages of NIFECG are objective FHR assessment, beat-to-beat variability, patient comfort, remote prolonged use, and less signal loss with increased maternal body mass index. Despite its promise, challenges such as signal loss must be addressed. The clinical application of NIFECG, its correlation with cCTG measures, and ongoing technological advancements are discussed. In conclusion, this review explores the evolution of antenatal FHR monitoring, emphasizing the potential of NIFECG in providing reliable, home-based monitoring solutions. Future research directions are outlined, urging longitudinal studies and evidence generation to establish NIFECG’s role in enhancing fetal well-being assessments during pregnancy.

Congenital disseminated pyogenic granuloma (CDPG) is characterized by eruptive disseminated or localized lesions, which may arise spontaneously or secondary to predisposing factors. Even rarer is the occurrence of CDPG with numerous lesions affecting variable organs, which develop during the fetal period. This report describes the case of a 32-week-old fetus presenting with severe hydrocephalus and vascular intracranial and right lung masses on magnetic resonance imaging. Preterm labor occurred at the 32^nd week due to preterm premature rupture of membranes, and the newborn died due to cardiac dysfunction within 2 hours postpartum. The subsequent autopsy revealed multiple violaceous to dark red papules, nodules, pedunculated and un-pedunculated mucocutaneous masses, as well as two brain lesions, a lung lesion, a thoracic wall intramuscular mass, and a pyloric mass. Microscopic examination and immunohistochemical evaluation for glucose transporter 1 (GLUT1) confirmed the diagnosis of CDPG. CDPG represents a rare condition with an elusive etiology and limited reports in the literature. Differential diagnosis from multifocal infantile hemangioma, based on GLUT1 negativity of CDPG, is imperative due to differing clinical course and treatment modalities. This report underscores a severe case of CDPG characterized by preterm labor and demise shortly after delivery, notable for its extensive involvement across multiple organs, including the brain, lung, intestine, musculoskeletal system, mucosal, and numerous cutaneous sites.

Fetal lower urinary tract obstruction is a rare condition commonly associated with significant perinatal morbidity and mortality, particularly when detected in the second trimester. The concurrent presentation of a recto-urethral fistula with membranous urethral atresia and sacrococcygeal teratoma has not been reported. We describe a case of extrinsic fetal lower urinary tract obstruction related to a recto-urethral fistula, diagnosed at 33 weeks gestation and managed by serial vesicocentesis until 38 weeks. This case, notable for its absence of hypoplasia despite late diagnosis, resulted in a term delivery of a male infant. After delivery, pediatric surgeons performed an abdominal perineal resection of the tumor. Fetal vesicocentesis remains a viable management option for patients without access to intrauterine surgical interventions.

致编辑：

通讯作者Vaishnavi Patel希望更新论文中列出的相关电子邮件地址。原电邮地址“vaishnavipatel88@gmail.com”已不再使用，需改为“vaishnavipateldo@gmail.com”。