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Journal of Clinical Ultrasound : JCU Jun 2024Primary inguinal hernia is a common pediatric surgical condition with an incidence of 1%-4%, which is higher in male or premature newborns. It is characterized by the...
Primary inguinal hernia is a common pediatric surgical condition with an incidence of 1%-4%, which is higher in male or premature newborns. It is characterized by the protrusion of abdominal contents through inguinal canal in newborns. However, prenatal fetal inguinal hernia is a rare condition because the pressure of amniotic fluid is similar to intra-abdominal pressure. Only 19 English publications were found with 21 reported cases until now. We report belatedly discovered inguinoscrotal hernia at 38 weeks' gestation. Usually, the fetal testicular descent begins from 24 to 25 weeks' gestation, and it is found after 32 weeks of gestational age in 97% of the fetuses. Therefore, it is necessary to get into the habit of checking fetal testicles during routine US after at least 32 weeks of gestational age.
PubMed: 38864446
DOI: 10.1002/jcu.23748 -
Molecular Genetics & Genomic Medicine Jun 2024The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Biallelic variants in the PKDCC gene can cause... (Review)
Review
Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.
BACKGROUND
The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Biallelic variants in the PKDCC gene can cause rhizomelic limb shortening with dysmorphic features.
CASE REPORT
A fetus was found to be rhizomelic limb shortening at 16 weeks of gestation and amniocentesis was performed at 19 weeks of gestation. Genomic DNA extracted from the amniotic fluid was subjected to chromosomal microarray analysis (CMA), and Trio-total whole-exome sequencing (Trio-WES). Sanger sequencing was used to verify the candidate pathogenic variants. CMA was normal, while Trio-WES identified two compound heterozygous variants in the PKDCC gene, namely c.417_c.423delCGGCGCG insTCATGGGCTCAGTACAC(p.G140fs*35) and c.345G>A (p.W115*,379). Then the fetus was aborted and the development of its bone cells were compared with that of a normal fetus of similar gestational age by histopathological examination. Clinical findings of the fetus were shortening humerus and femur, synophrys, much hair on the side face, simian line on the right palm, etc. Histopathological examination showed that the affected fetus had increased proliferative chondrocytes, widened proliferative bands, and delayed bone mineralization.
CONCLUSIONS
We reported a prenatal case of rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene, which emphasized the important role of Trio-WES for diagnosis of skeletal dysplasia in fetuses.
Topics: Humans; Female; Heterozygote; Adult; Pregnancy; Mutation; Prenatal Diagnosis; Limb Deformities, Congenital
PubMed: 38860479
DOI: 10.1002/mgg3.2477 -
Fetal Diagnosis and Therapy Jun 2024Introduction The optimal protocol for serial amnioinfusions to maintain amniotic fluid in pregnancies with early onset-fetal renal anhydramnios before 22 weeks is not...
Introduction The optimal protocol for serial amnioinfusions to maintain amniotic fluid in pregnancies with early onset-fetal renal anhydramnios before 22 weeks is not known. We compared the performance of two different approaches. Methods A secondary analysis was conducted of serial amnioinfusions performed by a single center during the external pilot and feasibility phases of the Renal Agenesis Fetal Therapy (RAFT) trial. During the external pilot, higher amnioinfusion volumes were given less frequently; in the feasibility study, smaller volume amnioinfusions were administered more frequently. Procedural details, complications, and obstetric outcomes were compared between the two groups using Pearson's chi-squared or Fisher's Exact tests for categorical variables and Student's t-tests or Wilcoxon Rank-Sum tests for continuous variables. The adjusted association between procedural details and chorioamniotic separation was obtained through a multivariate repeated measure logistic regression model. Results Eleven participants underwent 159 amnioinfusions (external pilot: three patients, 21 amnioinfusions; feasibility: eight patients, 138 amnioinfusions). External pilot participants had fewer amnioinfusions (7 vs. 19.5 in the feasibility group, p = 0.04), larger amnioinfusion volume (750 vs. 500 mL, p < 0.01), and longer interval between amnioinfusions (6 [4-7] vs. 4 [3-5] days, p < 0.01). In the external pilot, chorioamniotic separation was more common (28.6% vs. 5.8%, p < 0.01), preterm prelabor rupture of membranes (PPROM) occurred sooner after amnioinfusion initiation (28 ± 21.5 vs. 75.6 ± 24.1 days, p = 0.03), and duration of maintained amniotic fluid between first and last amnioinfusion was shorter (38 ± 17.3 vs. 71 ± 19 days, p=0.03), compared to the feasibility group. While delivery gestational age was similar (35.1 ± 1.7 vs. 33.8 ± 1.5 weeks, p=0.21), feasibility participants maintained amniotic fluid longer. Conclusion Small volume serial amnioinfusions performed more frequently maintain normal amniotic fluid volume longer because of delayed occurrence of PPROM.
PubMed: 38857574
DOI: 10.1159/000539732 -
PloS One 2024Clear amniotic fluid aspiration syndrome (CAF-AS) is a very rare event occurring in 0.25% of our term clear amniotic fluids deliveries. The study's aims were: 1. to... (Observational Study)
Observational Study
BACKGROUND
Clear amniotic fluid aspiration syndrome (CAF-AS) is a very rare event occurring in 0.25% of our term clear amniotic fluids deliveries. The study's aims were: 1. to characterize the risk factors and outcomes associated with Clear Amniotic Fluid Aspiration Syndrome and 2. to compare the outcomes of Clear Amniotic Fluid Aspiration to Meconium Aspiration.
METHODS
This was an observational study over a 22-year period in a single level-3 medical center. Compared were parturient/labor characteristics and neonatal outcomes in cases with suspected Clear Amniotic Fluid Aspiration to cases suspected for Meconium Aspiration.
RESULTS
Out of 79,620 term deliveries there were 66,705 (83.8%) clear amniotic fluids and 12,915 (16.2%) meconium stained amniotic fluid (MSAF). Of neonates born with clear amniotic fluid, 166 (0.25%) were diagnosed with Clear Amniotic Fluid Aspiration Syndrome (CAF-AS), while 202 (15.7%) of those born with MSAF, were diagnosed with aspiration syndrome (MSAF-AS). Both conditions had comparable rates of mild manifestation (67.5% vs 69.2%, p = 0.63). Persistent pulmonary hypertension (PPH) occurred 5 times less in CAF-AS than MSAF-AS (4% vs 20%, OR 0.17, P< 0.0001) Both conditions presented similar rates of surfactant without PPH (11.1% vs 13.4%, p = 0.87). There was 1 postnatal death in CAF-AS vs 10 in MSAF.
CONCLUSION
CAF-AS were quantitatively quite similar in terms of need of actual active intervention of the neonatologists in the delivery room (166 vs 202, i.e. in terms of numbers of cases and not prevalence) to MSAF-AS.We identified in these cases two major specific causes: hyperkinetic explosive deliveries in multiparas and long-lasting episodes of maternal hypotension due to epidural/spinal anaesthesia during labor. Out of 140 million births per year in the world, it should be of concern that 3 million cases are neglected nowadays. Future studies should evaluate if this CAF-AS should benefit from a more active intervention such as immediate endotracheal suction at birth, this clear fluid being very easy to suction.
Topics: Humans; Female; Amniotic Fluid; Pregnancy; Meconium Aspiration Syndrome; Infant, Newborn; Adult; Risk Factors; Male
PubMed: 38857215
DOI: 10.1371/journal.pone.0301595 -
Maternal and Child Health Journal Jun 2024This study investigates the impact of both maternal psychopathological factors and adaptive psychological changes within the couple on fetal growth, emphasizing the...
OBJECTIVE
This study investigates the impact of both maternal psychopathological factors and adaptive psychological changes within the couple on fetal growth, emphasizing the importance of evaluating pregnancy from the perspectives of the couple, the mother, and the fetus collectively. A "couple" in this context refers to heterosexual partners engaged in the pregnancy process together, whether married or in a stable relationship.
METHODS
We included 189 pregnant women in their first trimester, tracking maternal depression, anxiety, body appreciation, prenatal attachment, and the couple's adjustment level across each trimester. Fetal growth parameters measured include biparietal diameter, femur length, humerus length, abdomen circumference, head circumference, β-HCG, and amniotic fluid levels, with relationships between these variables being modeled accordingly.
RESULTS
Our findings indicate stable levels of maternal depression, anxiety, body appreciation, and couple's adjustment throughout the pregnancy, with a significant increase in prenatal attachment levels in each subsequent trimester. Prenatal attachment in the first trimester and maternal depression levels in the second and third trimesters were found to directly influence fetal growth, while other variables exhibited indirect effects.
CONCLUSIONS
Fetal growth is influenced by a myriad of biopsychosocial factors. Ensuring healthy pregnancy and fetal development necessitates close monitoring and support of the mother's adaptive psychological changes, early identification and treatment of potential psychopathologies, and maintenance of the psychosocial health of the couple.
PubMed: 38847991
DOI: 10.1007/s10995-024-03953-z -
Medicine Jun 2024With advances in prenatal diagnostic techniques, chromosomal microdeletions and microduplications have become the focus of prenatal diagnosis. 7q partial monosomy or... (Review)
Review
RATIONALE
With advances in prenatal diagnostic techniques, chromosomal microdeletions and microduplications have become the focus of prenatal diagnosis. 7q partial monosomy or trisomy due to a deletion or duplication of the 7q end is relatively rare and usually originates from parents carrying a balanced translocation.
PATIENT CONCERNS
Noninvasive prenatal screening (NIPT) showed a fetus with partial deletion and duplication of chromosome 7q. It was not possible to determine whether the fetus was normal.
DIAGNOSES
Conventional chromosome G-banding and chromosome microarray analysis (CMA) were performed on fetal amniotic fluid samples and parental peripheral blood samples.
INTERVENTIONS
The pregnant women were given detailed genetic counseling by clinicians.
OUTCOMES
The fetal karyotype was 46, XY on conventional G-banding analysis. The CMA test results showed a deletion of approximately 7.8 Mb in the 7q36.1q36.3 region and a duplication of 6.6Mb in the 7q35q36.1 region. The parents' karyotype analysis and CMA results were normal, indicating a new mutation.
LESSONS
CMA molecular diagnostic analysis can effectively detect chromosomal microdeletions or microduplications, clarify the relationship between fetal genotype and clinical phenotype, and provide a reference for prenatal diagnosis of chromosomal microdeletion-duplication syndrome.
Topics: Humans; Female; Chromosomes, Human, Pair 7; Pregnancy; Chromosome Deletion; Adult; Chromosome Duplication; Prenatal Diagnosis; Noninvasive Prenatal Testing; Chromosome Banding; Karyotyping; Microarray Analysis
PubMed: 38847723
DOI: 10.1097/MD.0000000000038461 -
Journal of Extracellular Vesicles Jun 2024Dendritic cells (DCs) are essential orchestrators of immune responses and represent potential targets for immunomodulation in autoimmune diseases. Human amniotic fluid...
Dendritic cells (DCs) are essential orchestrators of immune responses and represent potential targets for immunomodulation in autoimmune diseases. Human amniotic fluid secretome is abundant in immunoregulatory factors, with extracellular vesicles (EVs) being a significant component. However, the impact of these EVs on dendritic cells subsets remain unexplored. In this study, we investigated the interaction between highly purified dendritic cell subsets and EVs derived from amniotic fluid stem cell lines (HAFSC-EVs). Our results suggest that HAFSC-EVs are preferentially taken up by conventional dendritic cell type 2 (cDC2) through CD29 receptor-mediated internalization, resulting in a tolerogenic DC phenotype characterized by reduced expression and production of pro-inflammatory mediators. Furthermore, treatment of cDC2 cells with HAFSC-EVs in coculture systems resulted in a higher proportion of T cells expressing the regulatory T cell marker Foxp3 compared to vehicle-treated control cells. Moreover, transfer of HAFSC-EV-treated cDC2s into an EAE mouse model resulted in the suppression of autoimmune responses and clinical improvement. These results suggest that HAFSC-EVs may serve as a promising tool for reprogramming inflammatory cDC2s towards a tolerogenic phenotype and for controlling autoimmune responses in the central nervous system, representing a potential platform for the study of the effects of EVs in DC subsets.
Topics: Animals; Extracellular Vesicles; Dendritic Cells; Mice; Amniotic Fluid; Encephalomyelitis, Autoimmune, Experimental; Disease Models, Animal; Humans; Multiple Sclerosis; Female; Stem Cells; Mice, Inbred C57BL
PubMed: 38844736
DOI: 10.1002/jev2.12446 -
Journal of Perinatology : Official... Jun 2024Necrotizing enterocolitis (NEC) continues to be a leading cause of morbidity and mortality in preterm infants. As modern medicine significantly improves the survival of... (Review)
Review
Necrotizing enterocolitis (NEC) continues to be a leading cause of morbidity and mortality in preterm infants. As modern medicine significantly improves the survival of extremely premature infants, the persistence of NEC underscores our limited understanding of its pathogenesis. Due to early delivery, a preterm infant's exposure to amniotic fluid (AF) is abruptly truncated. Replete with bioactive molecules, AF plays an important role in fetal intestinal maturation and preparation for contact with the environment, thus its absence during development of the intestine may contribute to increased susceptibility to NEC. Human milk (HM), particularly during the initial phases of lactation, is a cornerstone of neonatal intestinal defense. The concentrations and activities of several bioactive factors in HM parallel those of AF, suggesting continuity of protection. In this review, we discuss the predominant overlapping bioactive components of HM and AF, with an emphasis on those associated with intestinal growth or reduction of NEC.
PubMed: 38844520
DOI: 10.1038/s41372-024-02026-x -
Prenatal Diagnosis Jun 2024To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS).
OBJECTIVE
To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS).
METHODS
This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes.
RESULTS
All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term.
CONCLUSION
Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.
PubMed: 38840299
DOI: 10.1002/pd.6619 -
Future Science OA 2024SARS-CoV-2 causes COVID-19. COVID-19 has led to severe clinical illnesses and an unprecedented death toll. The virus induces immune inflammatory responses specifically... (Review)
Review
SARS-CoV-2 causes COVID-19. COVID-19 has led to severe clinical illnesses and an unprecedented death toll. The virus induces immune inflammatory responses specifically cytokine storm in lungs. Several published reports indicated that pregnant females are less likely to develop severe symptoms compared with non-pregnant. Putative protective role of maternal blood circulating fetal mesenchymal stem cells (MSCs) has emerged and have been put forward as an explanation to alleviated symptoms. MSCs with immune-modulatory, anti-inflammatory and anti-viral roles, hold great potential for the treatment of COVID-19. MSCs could be an alternative to treat infections resulting from the SARS-CoV-2 and potential future outbreaks. This review focuses on the MSCs putative protective roles against COVID-19 in pregnant females.
PubMed: 38836262
DOI: 10.2144/fsoa-2023-0179