Beyond liver cancer, more application scenarios for alpha-fetoprotein in clinical practice.

Alpha-fetoprotein (AFP) is a commonly used clinical biomarker. Before 1970, the two-way agar diffusion method was mainly used, and the specificity of AFP in the diagnosis of primary liver cancer was satisfactory. However, its positivity rate was not very high. The diagnostic value of AFP is changing with the evolution of detection methods. Here, we performed a literature search to identify English-language publications. The search was performed from January 2015 to April 2023 using the PubMed database and the following terms in [Titles/Abstracts]: alpha-fetoprotein, clinical practice, detection, etc. The references of retrieved articles were also screened to broaden the search. Studies referring to liver cancer and AFP detection methods were excluded. In this review, several clinical application scenarios for AFP were systematically reviewed, and its potential detection value in the future was discussed.

The Experiences of Midwives Who Attend Births by Women with Life-Limiting Fetal Conditions (LLFC): A Phenomenological Research Study.

Providing care to a woman after a Life-Limiting Fetal Conditions (LLFC) diagnosis is a difficult experience for midwives. This study's aim is to describe the experience of midwives assisting in births following an LLFC diagnosis. It is a qualitative study using Interpretative Phenomenological Analysis (IPA). Semi-structured in-depth interviews were conducted with 15 midwives with experience in caring for women giving birth following an LLFC diagnosis. The data was analyzed through coding using the MAXQDA tool. The main theme emerging from the experience of midwives concerned difficulty in interacting with the woman giving birth. The analysis singled out four subthemes containing the most significant issues arising from the experience of midwives in caring for a woman giving birth to a lethally ill child: in relation with the woman giving birth; in relation with the child and the family; in relation with oneself; and in relation with the workplace. Midwives should have access not only to solid knowledge about this question, but also to courses developing skills in dealing with difficult situations, in coping with stress, in expressing compassion and, most importantly, in communicating with women and their families in such difficult circumstances.

Electromagnetic fields exposure on fetal and childhood abnormalities: Systematic review and meta-analysis.

Today, in the modern world, people are often exposed to electromagnetic waves, which can have undesirable effects on cell components that lead to differentiation and abnormalities in cell proliferation, deoxyribonucleic acid (DNA) damage, chromosomal abnormalities, cancers, and birth defects. This study aimed to investigate the effect of electromagnetic waves on fetal and childhood abnormalities. PubMed, Scopus, Web of Science, ProQuest, Cochrane Library, and Google Scholar were searched on 1 January 2023. The Cochran's Q-test and I 2 statistics were applied to assess heterogeneity, a random-effects model was used to estimate the pooled odds ratio (OR), standardized mean difference (SMD), and mean difference for different outcomes, and a meta-regression method was utilized to investigate the factors affecting heterogeneity between studies. A total of 14 studies were included in the analysis, and the outcomes investigated were: change in gene expression, oxidant parameters, antioxidant parameters, and DNA damage parameters in the umbilical cord blood of the fetus and fetal developmental disorders, cancers, and childhood development disorders. Totally, the events of fetal and childhood abnormalities were more common in parents who have been exposed to EMFs compared to those who have not (SMD and 95% confidence interval [CI], 0.25 [0.15-0.35]; I 2, 91%). Moreover, fetal developmental disorders (OR, 1.34; CI, 1.17-1.52; I 2, 0%); cancer (OR, 1.14; CI, 1.05-1.23; I 2, 60.1%); childhood development disorders (OR, 2.10; CI, 1.00-3.21; I 2, 0%); changes in gene expression (mean difference [MD], 1.02; CI, 0.67-1.37; I 2, 93%); oxidant parameters (MD, 0.94; CI, 0.70-1.18; I 2, 61.3%); and DNA damage parameters (MD, 1.01; CI, 0.17-1.86; I 2, 91.6%) in parents who have been exposed to EMFs were more than those in parents who have not. According to meta-regression, publication year has a significant effect on heterogeneity (coefficient: 0.033; 0.009-0.057). Maternal exposure to electromagnetic fields, especially in the first trimester of pregnancy, due to the high level of stem cells and their high sensitivity to this radiation, the biochemical parameters of the umbilical cord blood examined was shown increased oxidative stress reactions, changes in protein gene expression, DNA damage, and increased embryonic abnormalities. In addition, parental exposure to ionizing and non-ionizing radiation can lead to the enhancement of different cell-based cancers and developmental disorders such as speech problems in childhood.

Isolated non-immune hydrops fetalis: an observational study on complete spontaneous resolution, perinatal outcome, and long-term follow-up.

PURPOSE: The aim of our study was to investigate spontaneous resolution and postnatal outcome in non-immune hydrops fetalis (NIHF). We specifically studied NIHF cases that occurred without any other anomalies in the prenatal diagnostic workup, defined as isolated NIHF (iNIHF). METHODS: To identify iNIHF we retrospectively classified prenatal findings of 700 NIHF singletons, diagnosed in our prenatal referral center between 1997 and 2016. We studied the occurrence of prenatal resolution in iNIHF and linked it to the perinatal outcome. We obtained long-term outcome by contacting the parents, children, and the pediatricians and listed all functional and structural anomalies and temporary logopedic, psychosocial and motoric impairments. RESULTS: Among 70 iNIHF cases, 54 (77.1%) resolved completely prenatally. The baby-take-home rate was 98.1% in these cases. In contrast, the baby-take-home rate in the subgroup without complete resolution was 25.0%. We achieved pediatric long-term outcome in 27 of 57 survivors (47.4%) of iNIHF with a mean follow-up period of 10.9 years. Among these 27 children, fetal hydrops had completely resolved prenatally in 26 cases and had regressed to a mild effusion in one case. In the pediatric development, two children had significant functional impairment and two children showed recurrent skin edema. CONCLUSION: Complete spontaneous resolution was the most common intrauterine course of iNIHF in our collective. Completely resolved iNIHF had a favorable perinatal outcome in our study. Our data on the long-term outcomes are consistent with the assumption of an increased rate of functional impairments. TRIAL REGISTRY: Internal study number of Heinrich-Heine-University, Duesseldorf: 6177R. Date of registration: December 2017.

Research progress on fetal gallbladder dysplasia / 中华围产医学杂志

Gallbladder dysplasia is not common but can be associated with chromosome abnormality and/or some severe complications such as biliary atresia and cystic fibrosis. Therefore, prenatal detection of this problem is of great significance for timely management after birth. However, abnormal gallbladder development is often overlooked in routine mid-term fetal ultrasound scanning. Here, we reviewed the research progress on fetal gallbladder dysplasia, including clinical characteristics and perinatal prognosis of gallbladder duplication, echo substances in gallbladder and gallbladder cholelithiasis, ectopic gallbladder, gallbladder enlargement, and cystic fibrosis, and summarized the types, incidence, clinical features, prenatal diagnosis and perinatal prognosis of non-visualized fetal gallbladder, in order to emphasize the prenatal screening of fetal gallbladder dysplasia.

Prenatal diagnosis and pregnancy outcome of fetuses with isolated echogenic bowel / 中华围产医学杂志

Objective:To investigate the clinical value of isolated fetal echogenic bowel (FEB) as an indicator for invasive prenatal diagnosis.Methods:This retrospective study enrolled 183 pregnant women who were diagnosed with isolated FEB and underwent invasive prenatal diagnosis in Fujian Maternity and Child Health Hospital from August 2013 to January 2021. Clinical data including the results of conventional karyotyping and chromosomal microarray analysis (CMA), cytomegalovirus (CMV) DNA loads in amniotic fluid and pregnancy outcomes were reviewed analyzed. Chi-square test was used for statistical analysis Results:Karyotyping was performed on all of the 183 fetuses and three (1.64%) aneuploidies (one case of trisomy 21, one trisomy 18 and one 47,XYY syndrome) were detected. One trisomy 21 and four pathogenic (P)/likely pathogenic (LP) copy number variation (CNV) were detected among 108 fetuses who received CMA. The detection rate of P/LP chromosomal abnormalities by CMA was higher than that by karyotyping, but there was no significant difference between them [4.63% (5/108) vs 0.93% (1/108), χ 2=1.54, P>0.05]. In addition, three cases of variants of uncertain significance (VOUS) were detected by CMA. CMV DNA loads of fetal cells in the amniotic fluid samples of the 166 cases were determined, and only one (0.6%) was positive (CMV DNA up to 7.01×10 6 copies/ml), and no abnormalities were found in karyotype analysis and CMA detection. A total of 176 cases were followed up, and among them only one case of intrauterine infection and seven cases (three aneuploidies and four P/LP CNV) of chromosomal abnormalities were terminated after genetic counseling. Three fetuses with VOUS and other 165 fetuses without chromosomal abnormalities had a good prognosis after birth. Conclusions:Isolated FEB may be the abnormal ultrasound finding in fetuses with chromosomal abnormalities or CMV infection. Prenatal genetic testing and the exclusion of intrauterine infection are important for management during pregnancy and prognosis assessment of FEB.

Antenatal imaging: A pictorial review.

Today, in parallel with the use of imaging modalities increases in all fields, the use of imaging methods in pregnant women is increasing. Imaging has become an integral component of routine pregnancy follow-up. Imaging provides parents with an early opportunity to learn about the current situation, including prenatal detection of anomalies or diseases, etiology, prognosis, and the availability of prenatal or postnatal treatments. Various imaging modalities, especially ultrasonography, are frequently used for imaging both maternal and fetal imaging. The goal of this review was to address imaging modalities in terms of usefulness and safety, as well as to provide demonstrative examples for disorders. And this review provides current information on selecting a safe imaging modality to evaluate the pregnant and the fetus, the safety of contrast medium use, and summarizes major pathological situations with demonstrative sonographic images to assist radiologists and obstetricians in everyday practice.

Fetal Left Ventricular Apical Aneurysm Progressing to Dilated Cardiomyopathy Due to Glycogen Storage Disease.

Fetal dilated cardiomyopathy is a rare anomaly characterized by ventricular dilation and dysfunction. Its causes are diverse, and its outcomes are generally dismal. We describe a rare case of prenatally diagnosed left ventricular apical aneurysm that progressed rapidly to dilated cardiomyopathy. At age 2 months, the infant underwent heart transplantation. Pathologic examination of the explanted heart revealed that the cause of the dilated cardiomyopathy was glycogen storage disease. This case highlights the crucial roles of timely diagnosis, frequent close monitoring, and multidisciplinary care in achieving a successful postnatal outcome.

Adverse Maternal Fetal Environment Partially Mediates Disparate Outcomes in Non-White Neonates with Major Congenital Heart Disease.

OBJECTIVE: To determine whether differential exposure to an adverse maternal fetal environment partially explains disparate outcomes in infants with major congenital heart disease (CHD). STUDY DESIGN: Retrospective cohort study utilizing a population-based administrative California database (2011-2017). Primary exposure: Race/ethnicity. Primary mediator: Adverse maternal fetal environment (evidence of maternal metabolic syndrome and/or maternal placental syndrome). OUTCOMES: Composite of 1-year mortality or severe morbidity and days alive out of hospital in the first year of life (DAOOH). Mediation analyses determined the percent contributions of mediators on pathways between race/ethnicity and outcomes after adjusting for CHD severity. RESULTS: Included were 2747 non-Hispanic White infants (reference group), 5244 Hispanic, and 625 non-Hispanic Black infants. Hispanic and non-Hispanic Black infants had a higher risk for composite outcome (crude OR: 1.18; crude OR: 1.25, respectively) and fewer DAOOH (-6 & -12 days, respectively). Compared with the reference group, Hispanic infants had higher maternal metabolic syndrome exposure (43% vs 28%, OR: 1.89), and non-Hispanic Black infants had higher maternal metabolic syndrome (44% vs 28%; OR: 1.97) and maternal placental syndrome exposure (18% vs 12%; OR, 1.66). Both maternal metabolic syndrome exposure (OR: 1.21) and maternal placental syndrome exposure (OR: 1.56) were related to composite outcome and fewer DAOOH (-25 & -16 days, respectively). Adverse maternal fetal environment explained 25% of the disparate relationship between non-Hispanic Black race and composite outcome and 18% of the disparate relationship between Hispanic ethnicity and composite outcome. Adverse maternal fetal environment explained 16% (non-Hispanic Black race) and 21% (Hispanic ethnicity) of the association with DAOOH. CONCLUSIONS: Increased exposure to adverse maternal fetal environment contributes to racial and ethnic disparities in major CHD outcomes.

Prevalence of Congenital Anomaly and Its Relationship with Maternal Education and Age According to Local Development in the Extreme South of Brazil.

Congenital anomalies (CA) contribute to disabilities and health conditions throughout life. Furthermore, they can cause emotional distress to the mothers and children, who may also experience limitations in individual and social development. This study investigated the prevalence of CA and the relationship with maternal education and age according to local development in the extreme south of Brazil. This is a retrospective observational study with birth data from the Live Birth Information System from 2000 to 2017. The association between age and maternal education with the presence of CA was verified using multiple Poisson regression for robust variances in models adjusted for those variables with a preliminary significant association. A total of 5131 (1.5%) had some CA identified at birth between 2000 and 2017. Only advanced age (≥36 years) was associated with CA regardless of macro-region development (p ≤ 0.001). The highest risk was observed in regions with medium development (RR = 1.60; 95% CI 1.30−1.97). Maternal education (<8 years of study) was associated with CA only in mothers from macro-regions with very high development (RR = 1.27; 95% CI 1.03−1.54). These analyses confirmed that women of advanced age are at greater risk of having children with a CA regardless of maternal education and local development, but social characteristics can also have an influence, as regions with higher development had lower prevalence of CA.

A New Ethical Framework for Assessing the Unique Challenges of Fetal Therapy Trials.

New fetal therapies offer important prospects for improving health. However, having to consider both the fetus and the pregnant woman makes the risk-benefit analysis of fetal therapy trials challenging. Regulatory guidance is limited, and proposed ethical frameworks are overly restrictive or permissive. We propose a new ethical framework for fetal therapy research. First, we argue that considering only biomedical benefits fails to capture all relevant interests. Thus, we endorse expanding the considered benefits to include evidence-based psychosocial effects of fetal therapies. Second, we reject the commonly proposed categorical risk and/or benefit thresholds for assessing fetal therapy research (e.g., only for life-threatening conditions). Instead, we propose that the individual risks for the pregnant woman and the fetus should be justified by the benefits for them and the study's social value. Studies that meet this overall proportionality criterion but have mildly unfavorable risk-benefit ratios for pregnant women and/or fetuses may be acceptable.

Experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado / Experience of mothers after the diagnosis of congenital malformation and the expectations of care

RESUMO Objetivo compreender a experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado da rede de saúde e social. Métodos pesquisa qualitativa com embasamento na Fenomenologia Social, com a participação de seis mães residentes em municípios de fronteira, por meio de entrevista semiestruturada. Resultados os relatos trouxeram informações sobre o diagnóstico de malformação congênita, a experiência da gravidez, o tornar-se mãe de criança com malformação e as expectativas de cuidado de saúde e social. Conclusão o grupo social estudado experienciou o diagnóstico de malformação com sofrimento, repercussões emocionais e com mudanças no cotidiano vivido. Contribuições para a prática: a comunicação por parte da equipe de saúde contribui para a compreensão e enfrentamento da malformação. Destacou-se a importância do apoio da rede familiar e social. É preciso desenvolver competências profissionais relacionadas à comunicação e a maiores investimentos para a formação e condições de trabalho que possibilitem maior tempo destinado ao atendimento deste público.

ABSTRACT Objective to understand the experience of mothers after the diagnosis of congenital malformation and the expectations of care from the health and social network. Methods qualitative research based on Social Phenomenology, with the participation of six mothers living in border towns, by means of semi-structured interviews. Results the reports brought information about the diagnosis of congenital malformation, the experience of pregnancy, becoming a mother of a child with malformation and the expectations of health and social care. Conclusion the social group studied experienced the diagnosis of malformation with suffering, emotional repercussions and changes in their daily lives. Contributions to practice: communication by the health team contributes to understanding and facing the malformation. The importance of the family and social network support was highlighted. It is necessary to develop professional skills related to communication and to make more investments in training and working conditions that allow more time for the care of this public.

Postnatal outcomes and prognosis of fetal intra-abdominal solid masses diagnosed by prenatal ultrasound / 中华围产医学杂志

Objective:To investigate the clinical outcomes and prognosis of children who were prenatally diagnosed with solid space-occupying abdominal lesions by ultrasound.Methods:This study retrospectively enrolled 30 children with solid space-occupying abdominal lesions that were indicated by prenatal ultrasound at Children's Hospital of Fudan University from March 2015 to March 2021. Prenatal ultrasound findings, postnatal treatment, clinical outcomes, and prognosis were analyzed.Results:These subjects included 18 male and 12 female infants, with the median gestational age at the first sonographic diagnosis of 36 weeks (28 to 39 weeks). The intra-abdominal solid masses were postnatally confirmed to be located in liver, retroperitoneum, and gastrointestinal tract, which were hepatic hemangioma ( n=14), hepatoblastoma ( n=2), neuroblastoma ( n=6), abdominal teratoma ( n=4), adrenal hematoma ( n=1), adrenocortical adenoma ( n=1), hyperplasia of renal capillary ( n=1), and gastrointestinal teratoma ( n=1). The accuracy of prenatal ultrasound in detecting the location of masses was 73% (22/30) and which was 13/16 in detecting masses from liver and 9/14 in that outside the liver. Among the 30 cases, 73% (22/30) were benign tumors, and 27% (8/30) were malignant tumors (hepatoblastoma in two cases and neuroblastoma in six cases). Among 15 patients with benign tumors (hepatic hemangioma and adrenal hematoma) who received close follow-up or drug therapy, tumor/lesion regression occurred in 13 cases and the other two were observed with stable hepatic hemangiomas. Fourteen patients, including six with neuroblastoma, two with hepatoblastoma, five with teratoma, one with adrenocortical adenoma, and one with hyperplasia of renal capillary, had good prognosis after primary tumor resection or combined with postoperative chemotherapy. One hepatoblastoma case died after withdrawing treatment. The overall survival rate was 97% (29/30) with a median follow-up time of 24 months (4 to 60 months). Conclusions:Prenatal ultrasound has high accuracy in identifying the anatomic region of fetal solid space-occupying abdominal lesions. With close postnatal follow-up and proper treatment, most of the affected fetuses will have a good outcome and prognosis.

MEDICAL STAFF IN THE CARE OF A PREGNANT PATIENT DIAGNOSED WITH FETAL DEFECT.

OBJECTIVE: The aim: The research conducted aims at evaluating the way the medical staff functions in the care of the pregnant patient diagnosed with fetal defects. PATIENTS AND METHODS: Material and methods: 158 midwives took part in the study. The MINI-COPE standardized questionnaire and author's questions were used. RESULTS: Results: During the period when the care was provided for the pregnant patients diagnosed with fetal defects, nearly 50% of the midwives under examination complained about the decline of their wellbeing. 75,3% of the respondents seek help and advice on how to deal with a stressful situation. Ideal for providing a systemic support, the midwives most often chose a psychologist and a psychotherapist. The surveyed who reported no need for a systemic support for the medical staff at the workplace, as the causes of their attitude pointed to their diminished trust in the ward nurse and no place for honest conversations. Most of the midwives surveyed during the care of the patient with the fetal defects experienced stress and bigger mental exhaustion. Over half of the surveyed reported lack of systemic psychological support provided for the medical staff at the workplace. CONCLUSION: Conclusions: The research indicates the need to introduce courses and training on topics related to how to deal with stressful situations into the education system of medical staff.

Cell-free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review.

BACKGROUND AND AIM OF THE STUDY: Scientific Societies do not recommend the use of cell-free DNA (cfDNA) testing as a first-tier screening for microdeletion and microduplication syndromes (MMs). The aim of this study was to review the current available literature on the performance of cell-free DNA as a screening for MMs. METHODS: Medline, Embase and the Cochrane Library were searched electronically from 2000 to January 2020 and articles reporting the diagnostic performance of cfDNA screening for MMs in large (>5000 cases) series were included. Between-study heterogeneity and random effect model for screen positive rate (SPR), false positive rate (FPR) and positive predictive value (PPV) were calculated. RESULTS: We identified 42 papers, seven included, for a total of 474,189 pregnancies and 210 cases of MMs. Diagnostic verification of positive cases was available overall in 486 (71.68 %) of 678 cases. The weighted pooled SPR, FPR and PPV were 0.19% (95% CI = 0.09-0.33), 0.07 (95% CI = 0.02-0.15) and 44.1 (95% CI = 31.49-63.07). In conclusion, the pooled PPV of cfDNA testing in screening for MMs was about 40%, ranging from 29% to 91%, for an overall FPR <0.1%. CONCLUSIONS: No confirmatory analysis was available in cases that did not undergo invasive testing, which were the vast majority of cases with a negative test, and therefore, the DR and the negative predictive value cannot be determined.

The fetal inflammation response syndrome and adverse neonatal outcomes: a meta-analysis.

BACKGROUND: The clinical performance of fetal inflammatory response syndrome (FIRS) is often atypical. The aim of this meta-analysis is to investigate whether FIRS is associated with adverse neonatal outcomes. METHODS: PubMed, Embase, and Cochrane Library were used in this study. The adverse neonatal outcomes data including neonatal early-onset sepsis (EOS), bronchopulmonary dysplasia (BPD), periventricular leukomalacia (PVL), intraventricular hemorrhage (IVH), respiratory distress syndrome (RDS), and neonatal death were collected to make analysis. RESULTS: A total of 10 articles (1116 patients) were included in this study. Compared to the non-FIRS group, the FIRS group was associated with higher incidence of adverse neonatal outcomes, such as EOS (RR = 3.10, 95% CI: 1.26, 7.65; p=.014), BPD (RR = 5.93, 95% CI = 4.35, 8,08; p < .001), IVH (RR = 4.89, 95% CI = 2.96, 8.08; p < .001), PVL (RR = 3.32, 95% CI: 1.73, 6.40; p < .001), RDS (2.35, 95% CI = 1.67, 3.31; p < .001), and the neonatal death (RR = 7.04, 95% CI: 3.34, 14.85; p < .001). CONCLUSIONS: The FIRS is associated with higher incidence of adverse neonatal outcomes, and is a risk factor of severe neonatal morbidity or death.

Congenital malignant rhabdoid tumor in a fetal neck: a case report / 中华围产医学杂志

We report the clinical characteristics of congenital malignant rhabdoid tumor (MRT) of the neck in a fetus. Prenatal ultrasound and MRI at 33 +4 and 34 weeks gestation revealed a round solid mass on the right side of the fetus' neck. An initial differential diagnosis was between neuroblastoma and vascular malformation. Re-examination with ultrasound at 36 gestational weeks revealed an enlarged fetal neck mass, with concomitant multiple subcutaneous solid masses all over his body, right-side hydrothorax, and abnormal liver echo, which were highly suspicious of metastasis of a malignant tumor. The baby boy was delivered by cesarean section at 37 weeks of gestation with a normal Apgar score and slight shortness of breath. Physical examination showed scattered lesions in the neck, armpits, and limbs, etc. The condition of the infant deteriorated rapidly with the increasing number and volume of the masses after admission. The boy was confirmed as MRT (stage Ⅳ) by pathological biopsy on the left upper arm and died on postnatal day 10 after treatment was withdrawn.