Fetal Abnormalities Research Articles

Systematic review and meta-analysis of the association between young maternal age and fetal abnormalities

Fetal anomalies among young women and adolescents pose major public health concerns. This systematic review aims to elucidate the relationship between young maternal age and the incidence of fetal abnormalities. According to the systematic review and meta-analysis PRISMA protocol, cohort, cross-sectional and case–control studies were scrutinized to include 80,393,450 participants across diverse regions. The meta-analysis utilized Odds Ratios (OR) as the effect measure, adopting a random-effects model. The screening process involved 157 selected and verified manuscripts, which ultimately resulted in the final inclusion of 20 studied in the meta-analysis. The criterion for young maternal age was the age of ≤ 20 years. The meta-analysis revealed a pooled OR of 0.93 (95% CI: 0.82–1.05, p = 0.252), indicating no statistically significant association between young maternal age (≤ 20 years) and fetal anomalies. However, considerable heterogeneity (I² = 96.21%) was noted, prompting the use of a random-effects model to derive the reported results. The meta-analysis did not find statistically significant differences in the occurrence of congenital anomalies in fetuses of younger women than in overall population. Although due to significant heterogeneity of the analyzed studies, and a risk of bias, caution should be exercised when interpreting the results, further investigation may be warranted to understand the relationship between maternal age and risk of fetal anomalies. Nevertheless, the study shows significant differences, which diminish in collective analysis, suggests that factors beyond age may be influential. Specifically, the limited access to or quality of healthcare in certain regions could be a more critical factor than maternal age itself.

Evaluation of antenatal care quality for preterm birth prevention using an auditable scoring system: A retrospective, descriptive, longitudinal study in Sydney, Australia.

Preterm birth continues to be one of the most significant contributors to perinatal death. This study aims to evaluate the quality of antenatal care provided to women delivering preterm. This was a retrospective, descriptive, longitudinal review of all women who had antenatal care within a single Australian tertiary hospital and delivered spontaneously between 24 and 37 weeks of gestation, using an auditable scoring system assessing potential interventions for prevention of preterm birth. The review was limited to singleton pregnancies without fetal abnormalities delivering between January 2013 and April 2015. The audit tool was developed by reference to established 'best practice' guidance for prediction and prevention of preterm birth based on Royal Australian and New Zealand College of Obstetricians and Gynaecologists guidelines and published literature. Different pathways were assessed for women deemed either low- or high-risk at the outset of antenatal care. A series of 161 pregnancies that delivered preterm (between 24 and 37 weeks' gestation) were reviewed. The quality of antenatal care was scored 'good' in 42.9% and 50% of high-risk and low-risk women, respectively. Care was scored 'adequate', with room for improvement in 51.4% and 45.2% of the two corresponding groups. The main deficiencies in care were recorded evidence of assessment of cervical length (absent in 35% of cases) and failure to screen for bacterial vaginosis in high-risk women. Auditing antenatal care for prevention of preterm birth allows identification of suboptimal practice allowing service improvement and potential intervention for preterm birth prevention.

A comparative study of fetal cardiovascular assessment: utilizing Doppler ultrasound gated MRI and echocardiography with detailed analysis using five axial views.

To investigate the diagnostic performance of fetal cardiovascular magnetic resonance imaging (MRI) using Doppler ultrasound (DUS) gating for the evaluation of the standardized five axial views in comparison with fetal echocardiography. In this prospective study 29 pregnant women (median: 34.4 weeks of gestation) underwent fetal cardiovascular MRI using DUS gating at 3 Tesla. The standardized five axial views in prenatal screening (fetal abdomen, four-chamber view, left ventricular outflow tract, right ventricular outflow tract, and three-vessel view) were independently assessed and analysed by both fetal MRI and fetal echocardiography on the same day. Image analysis included qualitative assessment and quantitative measurements of cardiovascular structures. MR image quality was assessed using a 4-point scale (from 1 = low to 4 = excellent). Postnatal echocardiography was performed for validation. 17/28 fetuses (60.7%) had pathological findings [16 congenital heart defect (CHD), one diaphragmatic hernia] in prenatal echocardiography. One fetus was excluded due to severe motion. Overall sensitivity and specificity in detecting fetal cardiac abnormalities was 88% and 100%, respectively, for fetal MRI and 100% and 100% for fetal echocardiography. MR image quality for evaluation of cardiac structures was high with a mean score of 2.8 (±0.8) (score 4: 15.9%, score 3: 53.8%, score 2: 19.3%, score 1: 11%). Quantitative measurements did not differ between fetal cardiovascular MRI and fetal echocardiography (all p > 0.05). Diagnostic performance of fetal cardiovascular MRI using DUS gating was comparable to fetal echocardiography. Fetal cardiovascular MRI using DUS gating might be a valuable diagnostic adjunct for the prenatal evaluation of CHD.

Bridging Prenatal Diagnostics and AI: A Systematic Review and Meta-Analysis of the Efficacy of Advanced Algorithms in Identifying Congenital Fetal Abnormalities

Congenital fetal abnormalities have emerged as a major cause of infant mortality globally. About 3% of pregnancies are reported as fetal structural anomaly through ultrasound, ranging from minor defect to severe organ system anomalies. Our study aimed to evaluate effectiveness of Artificial intelligence (AI) algorithms in prediction of fetal heart and brain abnormalities by using meta-analysis approach. In this study, the “Reporting Items for Systematic Review and Meta-Analysis (PRISMA)" guidelines were applied for screening and selection of research articles. We searched the research articles according to research aims from Google scholar, PubMed, and Ovid MEDLINE. The data search was limited to January 2015 to May 2024. Two researchers independently screened the studies to detect research aim oriented studies. After screening of titles, those researchers assessed all abstract for eligibility. The risk bias of included studies was assessed by two researchers who used Cochrane library tool (version 5.4.0). Using the DerSimonian-Laird technique, a bivariate random effect model that generated SROC plots, we pooled test estimates. This method is particularly helpful in visualizing variability in the sensitivity and specificity across studies, accounting for the heterogeneity. This improves the reliability of the SROC plot, offering a clear summary of diagnostic performance Using the software RevMan 5.4, we carried out every statistical analysis, particularly heterogeneity through the Q test. About 243,456 screened fetus or pregnant women of 11-32 gestational weeks through 10 studies based on AI algorithms (machine learning, deep learning and AI diagnostic tool). The imaging protocols including ultrasound and MRI were used to take visuals of fetal brain and heart abnormalities in all of including studies. DL and ML algorithms provided high-performance diagnostic predictions, mostly include CNN models that assist in providing accurate diagnostic results with high sensitivity and specificity. The AI algorithm model showed a generally good accuracy scores for detection of brain and heart abnormalities and reference machine learning findings, with sensitivity ranging from 82 to 99% and specificity from 78 to 99%. Fig. 5's area under the SROC curve was 0.960. In contrast to the general detection, ML and DL seems to be more sensitive in diagnosing fetal brain and heart abnormalities. Our study provided the scientific evidence that AI models including deep learning and Machine learning are effective in generating highly reliable detection or classification results for diagnosis of fetal brain and heart anomalies. These strategies can help in reducing infant mortalities, improving treatment outcomes, and postpartum outcomes among women.

Maternal Cytomegalovirus (CMV) Serology: The Diagnostic Limitations of CMV IgM and IgG Avidity in Detecting Congenital CMV Infection.

Congenital cytomegalovirus (cCMV) is a common congenital viral infection. Testing for cCMV usually begins with assessing maternal CMV serology, specifically IgM and IgG antibodies. A negative maternal CMV IgM suggests a low risk of recent maternal CMV infection, thereby suggesting a low risk of cCMV in the fetus. Consequently, cCMV is often ruled out when maternal CMV IgM is negative. In our perinatal autopsy and placental pathology database, we identified 5 cases of cCMV despite negative maternal CMV IgM results in the second trimester. In all 5 cases, fetal abnormalities were first detected by ultrasound in the second trimester, prompting maternal CMV testing. Since second trimester maternal CMV IgM was negative in all cases, cCMV was considered unlikely, thus precluding further prenatal CMV testing in 4 of these cases. The diagnosis of cCMV was subsequently made through placental and/or autopsy examinations. Following this diagnosis, retrospective CMV serology and IgG avidity testing was performed on stored frozen first-trimester maternal blood samples in 3 cases. Among these, the first-trimester samples in 2 cases were IgG+, IgM+, and exhibited low IgG avidity, suggesting a primary maternal CMV infection around the time of conception. In the third case, both first and second-trimester maternal blood samples were IgG+, IgM-, and showed high IgG avidity, suggesting a non-primary maternal CMV infection (i.e., reactivation or reinfection of CMV). A negative maternal CMV IgM in the second trimester cannot exclude cCMV infection. While CMV IgG avidity testing and analysis of stored frozen first-trimester maternal blood samples provide valuable insights, they have limitations. CMV PCR performed on amniotic fluid is a useful prenatal diagnostic tool. For cases of unexplained fetal abnormalities or death, autopsy and placental examination are recommended.

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing

BackgroundWhole exome sequencing (WES) has been recommended to investigate the genetic cause of fetal structural anomalies. In this retrospective study, we aimed to evaluate the diagnostic yield of WES in our cohort of families with pregnancy loss or termination of pregnancy due to structural anomalies.MethodsAs aneuploidy, triploidy and copy number variations (CNVs) could be detected by exome-based CNV analysis, only WES is performed in this study. And the results of 375 cases assessed by WES were analyzed.ResultsThe overall detection rate was 32.3% (121/375), including aneuploidy and triploidy (7.5%, 28/375), CNVs (5.1%, 19/375) and single-nucleotide variants (SNVs) /insertions or deletions (Indels) (19.7%, 74/375). Among these, the diagnostic yield for likely pathogenic (LP) or pathogenic (P) CNVs is 4.8% (18/375), and the diagnostic yield for LP or P SNVs/Indels is 15.2% (57/375). And an additional 4.8% (18/375) of cases had CNVs or SNVs/Indels classified as variants of uncertain significance (VUS) with potential clinical significance.ConclusionsOur findings expand the known mutation spectrum of genetic variants related to fetal abnormalities, increase our understanding of prenatal phenotypes, and enable more accurate counseling of recurrence risk for future pregnancies.

Exploring the link between chromosomal polymorphisms and reproductive abnormalities

ObjectiveThis work aimed to investigate the potential correlation between chromosomal polymorphisms and various reproductive abnormalities.MethodsWe examined 21,916 patients affected by infertility who sought care at the Department of Reproductive Medicine, Affiliated Hospital of Shandong Second Medical University between January 2018 and December 2022. A total of 2227 individuals identified as chromosomal polymorphism carriers constituted the polymorphism group, and 2245 individuals with normal chromosome karyotypes were randomly selected to form a control group. Clinical manifestations, histories of spontaneous miscarriage, abnormal reproductive developments, fetal abnormalities, and male sperm quality anomalies were statistically compared between these two groups.ResultsOf the 21,916 patients analyzed, 2227 displayed chromosomal polymorphism, representing a 10.16% detection rate. Amongst the male patients, 1622 out of 10,827 exhibited polymorphisms (14.98%), whereas 605 out of 11,089 females showed polymorphisms (5.46%). Female carriers in the polymorphism group, showed statistically significant increased rates of spontaneous abortion (29.75% vs. 18.54%), fetal anomalies (1.32% vs. 0.81%), and uterine abnormalities compared with the control group (1.32% vs. 0.81%). Male carriers in the polymorphism group had higher rates of spontaneous abortion in partners (22.87% vs. 10.37%), fetal anomalies (1.97% vs. 0.25%), compromised sperm quality (41.74% vs. 7.18%), testicular underdevelopment (2.28% vs. 0.92%), and hypogonadotropic hypogonadism (0.62% vs. 0.37%) compared with the control group.ConclusionChromosomal polymorphisms may have a certain negative effect on reproductive irregularities, including spontaneous abortions, fetal anomalies, and reduced sperm quality in males. Their clinical effects deserve further investigation.

Add-on hemoperfusion in SARS-CoV-2-infected pregnant patients: a case series

BackgroundPregnant women are more likely to have a higher severity of illness after being infected with coronavirus disease 2019 compared with the general population, particularly in the hyperinflammatory phase. However, immunomodulatory drugs are contraindicated and have been associated with an increased risk of fetal abnormalities. Therefore, we are reporting our experience with the use of HA330 hemoperfusion in combination with standard therapy in severe to critical coronavirus disease 2019 cases among pregnant patients.Case presentationFrom January 2020 to December 2021, four pregnant Thai women were treated with hemoperfusion using a cytokine adsorptive technique. The patients’ ages ranged from 21 to 36 years old, and their gestational ages at the time of admission ranged from 18 to 38 weeks. Two patients required intubation. Extracorporeal blood purification with an adsorptive cartridge (HA330®, Jafron, China) was applied as an adjunctive strategy to standard therapy approximately one week after the onset of symptoms, and most patients received three sessions of hemoperfusion. The baseline C-reactive protein level was greater than 80 mg/dL. The results showed that hemoperfusion could decrease the C-reactive protein level by approximately 80% and improve oxygenation. The newborns were delivered by Cesarean section without complications. Neither mortality nor serious adverse events related to hemoperfusion occurred.ConclusionThis report may help ensure the use of the hemoperfusion strategy in pregnant patients during a cytokine storm. However, a larger cohort is needed to confirm its safety and efficacy.

Association Between Self-Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis.

Gastroschisis is a birth defect with the greatest risk among women <20 years of age. Pregnant women attending the University of Utah's Maternal-Fetal Medicine Diagnostic Center between 2011 and 2017 for either their routine diagnostic ultrasound or referral were recruited (cases: pregnant women with fetal gastroschisis, n = 53 participated/57, 93%; controls: pregnant women without fetal abnormalities, n = 102 participated/120, 85%). A clinic coordinator consented and interviewed women and obtained a blood sample and prenatal medical records. We evaluated self-reported maternal characteristics, risk factors, and infections. To assess pathogen seropositivity we used Serimmune's Serum Epitope Repertoire Analysis validated 35 pathogen panels and Chlamydia trachomatis and compared seropositivity to self-report and prenatal medical record screening to assess sensitivity. Cases were more likely to report a younger age at sexual debut (p = <0.01), more sexual partners (p = 0.02), being unmarried (p < 0.01), changing partners between pregnancies (p = <0.01), smoking cigarettes (<0.01), and a recent sexually transmitted infection (STI) (p = 0.02). No differences were observed for self-report of illicit drug use or periconceptional urinary tract infections. Cases had a higher seropositivity for cytomegalovirus (p = 0.01). No differences were observed for herpes simplex I, II, or Epstein-Barr. Though based on small numbers, C. trachomatis seropositivity was highest in cases (17%) compared to controls (8.8%) with the highest proportion observed in case women <20 years of age (cases 33%; controls 0%). Any STI (self-report or seropositivity) was also highest among cases <20 years of age (cases 47%; controls 0%). Among C. trachomatis seropositive women, self-report and prenatal medical record sensitivity was 27.8% and 3%, respectively. Cases were more likely to engage in behaviors that can increase their risk of exposure to sexually transmitted pathogens. Case women <20 years of age had the highest proportion of C. trachomatis seropositivity and any STI. Prenatal medical records and self-report were inadequate to identify a recent chlamydial infection whereas, the SERA assay is a novel approach for evaluating subclinical infections that may impact the developing embryo.

Unusual Maternal and Fetal Findings With Cell-Free DNA Screening.

With advances in prenatal cell-free DNA (cfDNA) technology, the information available with cfDNA continues to expand beyond the common fetal aneuploidies such as trisomies 21, 18, and 13. Due to the admixture of maternal and fetal/placental DNA, prenatal cfDNA remains a screening test with the possibility of false-positive and false-negative results. This review aims to summarize unusual incidental maternal and fetal genomic abnormalities detectable by cfDNA and to provide anticipatory guidance regarding management. Of 140 articles identified with keywords such as "incidental" and "discordant" cfDNA, 55 original research articles, review articles, case series, and societal guidelines were reviewed. Prenatal cfDNA may incidentally identify a spectrum of maternal genomic abnormalities such as malignancy, mosaicism, and copy number variants. When discordant with fetal diagnosis, these cases require additional investigation with maternal genetic testing and follow-up evaluation. Such incidental fetal/placental abnormalities may include rare autosomal trisomies, uniparental disomy, and triploidy. Further evaluation of fetal/placental abnormalities can be pursued with a combination of ultrasound and prenatal diagnosis with chorionic villous sampling and/or amniocentesis. Societal guidelines do not currently recommend cfDNA screening for rare autosomal trisomies, microdeletions, or copy number variants, and some experts suggest that sex chromosome screening should be opted in after counseling. Knowledge about possible incidental findings with prenatal cfDNA is needed to inform pretest and posttest counseling with appropriate follow-up evaluation. As cfDNA technology has advanced to include genome-wide findings, it is important for clinicians, genetic counselors, and societal guidelines to acknowledge the spectrum of possible results outside of the traditional and sex chromosome aneuploidies.

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including PDHA1. Typical neonatal brain imaging findings have been described, with a focus on malformative and encephaloclastic features. Fetal brain MRI in PDCD has not been comprehensively described. The aims of this study were (1) to further characterize the fetal brain MRI findings in PDCD using comprehensive fetal imaging and genetic testing and (2) to determine whether markers of diagnosis of PDCD could be identified on prenatal imaging. Fetuses with a diagnosis of PDCD related to a genetic etiology that had undergone fetal MRI were included. Fetuses were identified retrospectively from local databases of 4 fetal diagnostic clinics within tertiary pediatric health care centers. Electronic medical records were reviewed retrospectively: demographics, maternal and pregnancy history, fetal outcomes, and neonatal outcomes (if available) were reviewed and recorded. Fetal and neonatal imaging reports were reviewed; source fetal and neonatal brain MRI scans were reviewed by a single pediatric neuroradiologist (J.W.S.) for consistency. Genetic testing strategies and results including variant type, zygosity, inheritance pattern, and pathogenicity were recorded. Deidentified data were combined and reported descriptively. A total of 10 fetuses with a diagnosis of PDCD were included. 8 fetuses had corpus callosum dysgenesis, 6 had an abnormal gyration pattern, 10 had reduced brain volumes, and 9 had cystic lesions. 1 fetus had intraventricular hemorrhages. 1 fetus had a midbrain malformation with aqueductal stenosis and severe hydrocephalus. 6 fetuses imaged in the second trimester had cystic lesions involving the ganglionic eminences (GEs) while GE cysts were not present in the 4 fetuses imaged in the third trimester. Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings are subtle early in pregnancy. Additional features, such as cystic lesions of the GEs, are noted in the second trimester in fetuses with PDCD. These may represent an early diagnostic marker of PDCD, although more data are needed to validate this association. Early diagnosis of PDCD using fetal MRI may inform genetic counseling, pregnancy decision making, and neonatal care planning.

Experiences of attending prenatal ultrasounds during the COVID-19 pandemic in Australia: A cross-sectional survey.

Prenatal ultrasounds form an important part of routine maternity care in Australia and indeed internationally. The COVID-19 pandemic necessitated rapid changes in society and healthcare to curb transmission, with evidence demonstrating detrimental impacts on childbearing women associated with these restrictions. However, experiences with pandemic restrictions for prenatal ultrasounds in relation to distress, patient expectations, and satisfaction are largely unknown. This study aimed to explore the experiences of pregnant women attending prenatal ultrasound during the pandemic in Australia. A cross-sectional online survey of people in Australia who had undergone at least one prenatal ultrasound during the period of maternity care restrictions was performed. The survey included validated tools for assessing post-traumatic stress, satisfaction, and expectations with maternity care. A total of 1280 responses were obtained. Almost 37% of respondents returned a PCL-C score consistent with probable post-traumatic stress disorder. Unexpected ultrasound findings or a high PCL-C score were more likely to have higher expectations and lower levels of satisfaction with their maternity care experience. Having an ultrasound for pregnancy loss, fetal abnormality, and/or a prior post-traumatic stress disorder diagnosis were the strongest factors correlating with a high PCL-C score. The prevalence of post-traumatic stress symptoms in the study population is concerning and elucidates the distress experienced in association with prenatal ultrasounds during pandemic restrictions in Australia. Maternity services should acknowledge the high levels of service consumers with post-trauma symptoms and consider trauma-responsive maternity care adaptations in response to adverse perinatal outcomes for those afflicted with post-trauma and distress-related symptoms.

Uterine fibroids and non-informative cell-free DNA screening results.

Uterine fibroids are monoclonal tumors, which are often genetically abnormal and associated with false-positive genome-wide cell-free DNA (cfDNA) screening results, particularly when large. It is plausible that fibroids may also increase the risk of cfDNA failure by affecting fetal fraction or due to their genetic anomalies confounding cfDNA algorithms. We aimed to investigate a possible association between fibroids and cfDNA non-informative results. This was a retrospective cohort study of women undergoing cfDNA screening for fetal chromosomal abnormalities between 2013 and 2020, comparing pregnancies with vs without uterine fibroids recorded on any obstetric ultrasound before 24 weeks' gestation. Univariable and multivariable logistic regression models were used to investigate the association between fibroids and cfDNA failure, adjusting for gestational age, maternal age, weight and height at blood sampling, mode of conception, multiple gestation and test platform (chromosome-selective or genome-wide). Analyses were stratified according to the number of fibroids and total fibroid volume. The impact of fibroids on fetal fraction was assessed using linear regression, adjusting for the same covariates. Among 19 818 pregnancies undergoing cfDNA screening, fibroids were reported in 2038 (10.28%) and cfDNA failure at the first screening attempt occurred in 228 (1.15%) pregnancies. Non-informative results occurred in 1.96% of pregnancies with fibroids and 1.06% of pregnancies without fibroids (adjusted odds ratio (aOR), 2.40 (95% CI, 1.65-3.48)). The risk of failure in the first screening attempt increased progressively with the number of fibroids (aOR, 5.05 (95% CI, 2.29-11.13) in women with four or more fibroids) and total fibroid volume, with greater than a 5-fold and 14-fold increase in risk among women with fibroid volumes of 100.1-400 mL (aOR, 5.52 (95% CI, 2.30-13.25)) and > 400 mL (aOR, 14.80 (95% CI, 4.50-48.69)), respectively. Although test failure was more common with chromosome-selective than genome-wide screening, fibroids similarly increased the risk of failure of both screening platforms. Compared to pregnancies without fibroids, those with fibroids had a fetal fraction on average 0.61% lower (adjusted mean difference, -0.61% (95% CI, -0.77% to -0.45%)). Uterine fibroids are associated with lower fetal fraction and an increased risk of cfDNA screening failure. The strength of this association increases with increasing fibroid number and volume. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Can the neutrophil-to-lymphocyte ratio be used as an early marker of small fetuses for gestational age? A prospective study.

Small-for-gestational-age (SGA) fetuses are at increased risk of mortality and morbidity, and less than 30% will be detected by any ultrasound scan within 4 weeks before delivery. Our aim was to evaluate the relationship between neutrophil/lymphocyte ratio (NLR) in the first trimester of pregnancy and SGA fetuses. We performed a prospective study between June 2021 and August 2022, to evaluate the relationship between the neutrophil to lymphocyte ratio in maternal blood in the first trimester of pregnancy, with the birth of an SGA fetus. One hundred ninety-four participants with singleton pregnancies between 11 + 1 and 13 + 6 weeks of gestation were recruited. Pregnancies affected with diagnosed fetal chromosomal abnormalities, or chronic pathologies were excluded. SGA was defined as birthweight less than the 10th centile (N = 42) and severe SGA as birthweight less than the 3rd centile for gestation (N = 10) according to a locally derived descriptive charts. The NLR value measured in the first trimester was compared between these two groups and controls. We found no statistically significant difference in NLR, (3.5 +/-1.2 vs. 3.4+/-1.2, p-value of 0.78) when comparing the SGA less than the 10th centile group to the control group. NLR was also not different between severe SGA and controls (3.6+/-1.4 vs. 3.4+/-1.2 p-value of 0.78). We found no association between first-trimester NLR ratio and SGA.

The Experience of Phenylketonuria in Pregnancy and the Developing Maternal-Infant Relationship: A Qualitative Study.

Phenylketonuria (PKU) is a rare metabolic condition characterised by an inability to metabolise phenylalanine (Phe), found in many foods. When pregnant with PKU, women must adhere to a strict low-Phe diet. If they do not, foetal abnormalities or pregnancy loss can occur. Pregnancies are therefore closely clinically monitored and dominated by dietary management, leaving little "space" for women's emotional experience. This article explores the emotional impact of PKU during pregnancy and how this effects pre-natal bonding. Based on interviews with six women with PKU, conducted whilst they were pregnant, this article explores their unusual and previously undocumented experience. Image-making during interviews allowed women to uncover aspects of their experience that might otherwise have remained hidden. Interpretative phenomenological analysis of the transcripts and images generated five themes summarising the women's experiences. Some themes reiterated findings from previous studies, for example, the huge cognitive burden associated with PKU pregnancies and the importance of both expert and informal support to successful pregnancy management. However, new understanding also emerged, including rich description of the emotional load of these pregnancies and strategies that women use to manage this. Anxiety about baby safety was central to their experiences, and the effect of this on pre-natal bonding was explored. This article calls for increased formal and informal support for women with the emotional aspects of their PKU pregnancies, for example, the creation of "attachment-aware" services that support women with their anxiety, promoting strong pre-natal attachment and subsequently protecting maternal and infant mental health throughout pregnancy and beyond.

Molecular analysis of 31 cases with fetal skeletal dysplasia.

The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study. Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined. Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.

Edukasi Peningkatan Gizi pada Ibu Hamil di Wilayah Kerja UPT Puskesmas Kampung Sawah Kota Bandar Lampung

Pregnancy is the most important period in a woman's life cycle. During pregnancy, a woman provides nutrition not only herself, but also herself and the fetus. Pregnant women should be careful with their food intake. You not only need to consume enough food and drinks, but they also need to be balanced and contain enough nutrients. Non-compliance with nutrition during pregnancy causes malnutrition, the worst impact of which is incomplete fetal growth, low birth weight (LBW), and fetal abnormalities. The aim of this activity is to increase respondents' knowledge regarding the nutrition of pregnant women. It was found that respondents were very enthusiastic about listening to the material presented by the presenters. The nutritional status of a pregnant woman before and during pregnancy can affect the development of the fetus she is carrying. If a mother's nutritional status is normal before and during pregnancy, she will most likely give birth to a healthy adult child with a normal weight

CCR2-dependent placental migration of inflammatory monocytes suppresses abnormal pregnancies caused by Toxoplasma gondii infection.

Toxoplasma gondii (T. gongii) is a zoonotic protozoan parasite that causes congenital toxoplasmosis, including fetal death, abortion, stillbirth, morphological abnormalities, and premature birth. Primary T. gondii infection in pregnant women results in congenital toxoplasmosis. C-C chemokine receptor (CCR) 2 is reportedly a critical host defense factor against T. gondii infection. However, details of the role of CCR2 in the host immune response to T. gondii in congenital toxoplasmosis remain unclear. Here, we infected pregnant CCR2-deficient mice with T. gondii, resulting in stillbirth, embryonic resorption, fetal morphological abnormalities, and preterm delivery at significantly higher rates than those in pregnant wild-type mice. Consistent with the severity of abnormal pregnancy, a large area of placental hemorrhage and a large number of T. gondii infections around the hemorrhagic area were observed in the placentas of CCR2-deficient mice. In addition, the accumulation of inflammatory monocytes in the placenta was reduced in CCR2-deficient mice during infection. We further confirmed that the adoptive transfer of inflammatory monocytes collected from wild-type mice into T. gondii-infected pregnant CCR2-deficient mice effectively suppressed placental damage and abnormal pregnancy. Collectively, CCR2 contributes to pregnancy maintenance by regulating the migration of inflammatory monocytes into the placenta of T. gondii-infected pregnant mice.

Introducing second-trimester anatomic scanning for improved detection and management of congenital anomalies: Experience from a novice center in East Africa.

The aim of the current study was to describe the magnitude and pattern of congenital anomalies on routine second-trimester ultrasound and its practical implication in the management of pregnant women with fetal anomalies at a novice center in East Africa. This cross-sectional study was conducted from September 2021 to May 2022 among women who had second-trimester anatomic scanning. Data were collected using a structured questionnaire and analyzed using SPSS version 23.1. Ethical clearance was obtained from the hospital's institutional review board and informed consent was obtained. The number of congenital anomalies was 45 of 1764 (2.55%). Most (41%) were in the age group 26-30 years and multigravida (62%). Average gestational age at anatomic scanning was 24 weeks. One or more risk factors for congenital anomalies were reported in 19 (31.0%) of the mothers. Most sonographic fetal abnormalities (51.7%) were reported in the central nervous system, followed by renal (18.0%) and skeletal (11.5%). Among the central nervous system anomalies, severe ventriculomegaly was the most common (38.7%), followed by Arnold-Chiari malformation (19.4%). Thirty-five (2%) of the mothers had a lethal fetal congenital anomaly and their pregnancy was terminated after counseling and informed consent. The rate of congenital anomalies in this study is comparable with most international data. The introduction of second-trimester anatomic scanning has led to timely termination of anomalous pregnancies, which contributes to reduction in direct and indirect costs of care and family's psychosocial distress and the stigma associated with the birth of and caring for a child with disability.

A Left Axillary Artery Variation: Case Report

Fetal abnormalities can cause axillary artery variations. Recognize and document of these variations are essential for surgeons performing interventional or diagnostic procedures for cardiovascular diseases. During routine dissection of an old female cadaver in the department of anatomy of Islamic Azad University, Tehran of Medical Sciences, we came across a variation in the branching pattern of the left axillary artery. The third part of the left axillary artery gave rise to a common trunk which was divided into the subscapular, lateral thoracic, posterior, and anterior circumflex humeral arteries.