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BMC Pregnancy and Childbirth May 2024This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT) and to evaluate the...
OBJECTIVE
This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT) and to evaluate the efficacy of different genetic testing techniques for prenatal diagnosis of trisomy mosaicism.
METHODS
For prenatal diagnosis of a pregnant woman with a high risk of trisomy 7 suggested by NIPT, karyotyping and chromosomal microarray analysis (CMA) were performed on an amniotic fluid sample. Low-depth whole-genome copy number variation sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were used to clarify the results further. In addition, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to analyze the possibility of uniparental disomy(UPD).
RESULTS
Amniotic fluid karyotype analysis revealed a 46, XX result. Approximately 20% mosaic trisomy 7 was detected according to the CMA result. About 16% and 4% of mosaicism was detected by CNV-seq and FISH, respectively. MS-MLPA showed no methylation abnormalities. The fetal ultrasound did not show any detectable abnormalities except for mild intrauterine growth retardation seen at 39 weeks of gestation. After receiving genetic counseling, the expectant mother decided to continue the pregnancy, and follow-up within three months of delivery was normal.
CONCLUSION
In high-risk NIPT diagnosis, a combination of cytogenetic and molecular genetic techniques proves fruitful in detecting low-level mosaicism. Furthermore, the exclusion of UPD on chromosome 7 remains crucial when NIPT indicates a positive prenatal diagnosis of trisomy 7.
Topics: Humans; Female; Mosaicism; Pregnancy; In Situ Hybridization, Fluorescence; Chromosomes, Human, Pair 7; Trisomy; Karyotyping; Adult; Uniparental Disomy; DNA Copy Number Variations; Prenatal Diagnosis; Microarray Analysis; Noninvasive Prenatal Testing; Multiplex Polymerase Chain Reaction; Amniotic Fluid
PubMed: 38702634
DOI: 10.1186/s12884-024-06522-y -
Experimental Cell Research Jun 2024Prenatal surgery for the treatment of spina bifida (myelomeningocele, MMC) significantly enhances the neurological prognosis of the patient. To ensure better protection...
Prenatal surgery for the treatment of spina bifida (myelomeningocele, MMC) significantly enhances the neurological prognosis of the patient. To ensure better protection of the spinal cord by large defects, the application of skin grafts produced with cells gained from the amniotic fluid is presently studied. In order to determine the most appropriate cells for this purpose, we tried to shed light on the extremely complex amniotic fluid cellular composition in healthy and MMC pregnancies. We exploited the potential of micro-Raman spectroscopy to analyse and characterize human amniotic fluid cells in total and putative (cKit/CD117-positive) stem cells of fetuses with MMC in comparison with amniotic fluid cells from healthy individuals, human fetal dermal fibroblasts and adult adipose derived stem cells. We found that (i) the differences between healthy and MMC amniocytes can be attributed to specific spectral regions involving collagen, lipids, sugars, tryptophan, aspartate, glutamate, and carotenoids, (ii) MMC amniotic fluid contains two particular cell populations which are absent or reduced in normal pregnancies, (iii) the cKit-negative healthy amniocyte subpopulation shares molecular features with human fetal fibroblasts. On the one hand we demonstrate a different amniotic fluid cellular composition in healthy and MMC pregnancies, on the other our work confirms micro-Raman spectroscopy to be a valuable tool for discriminating cell populations in unknown mixtures of cells.
Topics: Humans; Spectrum Analysis, Raman; Amniotic Fluid; Meningomyelocele; Female; Pregnancy; Fetus; Fibroblasts; Cells, Cultured; Adult
PubMed: 38697275
DOI: 10.1016/j.yexcr.2024.114048 -
Annals of Medicine and Surgery (2012) May 2024The diagnostic criteria for Quintero staging in twin-to-twin transfusion syndrome (TTTS) are not applicable in all cases of TTTS, such as those in which the symptoms...
INTRODUCTION AND IMPORTANCE
The diagnostic criteria for Quintero staging in twin-to-twin transfusion syndrome (TTTS) are not applicable in all cases of TTTS, such as those in which the symptoms overlap with other monochorionic twin complications such as selective intrauterine growth restriction (sIUGR).
CASE PRESENTATION
A 25-year-old woman, G1P0A0, at 22-24 weeks' gestational age was diagnosed with TTTS, with no outstanding history of medication use during pregnancy, and no family history of genetic disorder or twin pregnancy. In the donor twin, persistently absent end-diastolic flow in the umbilical artery was observed using Doppler velocimetry. Polyhydramnios was observed in the recipient twins. The fetal weight discordance between the twins was 39%. After 2 weeks of follow-up, the authors performed fetoscopic laser photocoagulation and successfully ablated five vascular anastomoses and amnioreduction by 2.5 l. Five days after the laser surgery, the patient developed amniotic fluid leakage, and an amniopatch was performed. The authors did the caesarean section at 34 weeks because of severe preeclampsia, the donor and recipient birth weights were 1,120 g and 1,837 g, respectively (weight discordance 39%). The APGAR scores were 3/4 and 6/8, respectively. The donor twin died 6 days after delivery due to respiratory failure, and the recipient twin survived. Neonatal echocardiography of the surviving twin showed no tricuspid regurgitation. No long-term follow-up was performed.
CLINICAL DISCUSSION
The traditional diagnostic criteria for TTTS stage 3 were not met and overlapped with the diagnostic criteria for sIUGR type 2. This is the first procedure reported in Indonesia for atypical TTTS with the outcome, one twin survived.
CONCLUSION
Some TTTS cases do not meet traditional diagnostic criteria and overlap with other monochorionic twin complications.
PubMed: 38694332
DOI: 10.1097/MS9.0000000000001975 -
Radiology Case Reports Jul 2024Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet...
Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet gestations are recognized for their propensity to bring about a spectrum of pregnancy related complexities, encompassing fetal structural abnormalities, neurological anomalies, disturbances in amniotic fluid levels, preterm labor, and suboptimal neonatal outcomes. Anencephaly is a serious congenital defect where the brain and skull do not fully develop, often leading to a poor prognosis. It's a preventable neural tube defect (NTD) with timely intake of folic acid, is caused by the incomplete closure of the neural tube during fetal development, resulting in the absence of the cerebrum (responsible for thinking and coordination) and the front part of the brain (forebrain) in affected infants. While anencephaly in a triplet is scarcely reported, spontaneous reabsorption of an anencephalic fetus in utero is a rare and unexpected event, with no documented cases in triplet pregnancies until now. We report a case of anencephaly in a triplet pregnancy where the mother presented late during her third trimester, the reabsorption of the anencephalic fetus in utero is an unprecedented event, highlighting the unique nature of this triplet pregnancy.
PubMed: 38689815
DOI: 10.1016/j.radcr.2024.03.063 -
AJOG Global Reports May 2024Preterm birth accounts for 60% to 80% of neonatal mortality. Approximately one-third of preterm births are caused by the spontaneous onset of preterm labor....
BACKGROUND
Preterm birth accounts for 60% to 80% of neonatal mortality. Approximately one-third of preterm births are caused by the spontaneous onset of preterm labor. Nevertheless, 70% to 90% of women diagnosed with preterm labor will not deliver within 7 days. Thus, many women will be unnecessarily treated by preterm labor with risk medications. Better tools are needed to categorize women in preterm labor into high or low risk of preterm delivery.
OBJECTIVE
This study aimed to evaluate the amino-terminal pro-brain natriuretic peptide concentration in the amniotic fluid as a prognostic test to predict the risk of delivery within 48 hours or 7 days and before 34 0/7 or 37 0/7 weeks of gestation in women in preterm labor.
STUDY DESIGN
A total of 102 pregnant women presenting signs and symptoms of spontaneous preterm birth (22 0/7 to 34 0/7 weeks of gestation) were included. Amniotic fluid was obtained by amniocentesis, and amino-terminal pro-brain natriuretic peptide concentration was measured. Below normal concentration was defined as <0.5 multiples of the median of the standard curve according to gestational age. The risk of preterm delivery was estimated according to normal or lower-than-normal amino-terminal pro-brain natriuretic peptide concentrations. The predictive capacity of the test (below normal amino-terminal pro-brain natriuretic peptide concentration) was evaluated to identify spontaneous preterm birth at 48 hours or 7 days from amniocentesis and less than 34 0/7 or 37 0/7 weeks at delivery.
RESULTS
For the outcome delivery within 48 hours, lower-than-normal amino-terminal pro-brain natriuretic peptide concentration had 94.6% sensitivity, 73.8% specificity, 96.0% negative predictive value, 3.61 positive likelihood ratio, and 0.07 negative likelihood ratio. For the outcome delivery within 7 days, the test had 93.9% sensitivity, 88.7% specificity, 94.0% negative predictive value, 8.31 positive likelihood ratio, and 0.07 negative likelihood ratio. For the outcomes of spontaneous preterm birth before 34 0/7 and 37 0/7 weeks of gestation, below normal amino-terminal pro-brain natriuretic peptide concentrations had 80.0% sensitivity, 83.0% specificity, 78.0% negative predictive value, 4.70 positive likelihood ratio, and 0.24 negative likelihood ratio and 64.1% sensitivity, 91.7% specificity, 44.0% negative predictive value, 7.70 positive likelihood ratio, and 0.39 negative likelihood ratio, respectively.
CONCLUSION
Among patients in spontaneous preterm labor, the detection of lower-than-normal amino-terminal pro-brain natriuretic peptide concentrations (<0.5 multiples of the median) in amniotic fluid has an excellent predictive capacity to identify those patients at low risk of preterm delivery within 48 hours or 7 days.
PubMed: 38681954
DOI: 10.1016/j.xagr.2024.100345 -
STAR Protocols Jun 2024The amnion is a thin layer of fetal origin in contact with the amniotic fluid which plays a key role at the feto-maternal interface during pregnancy. Here, we present a...
The amnion is a thin layer of fetal origin in contact with the amniotic fluid which plays a key role at the feto-maternal interface during pregnancy. Here, we present a protocol for isolation of human and Rhesusmacaque amnion cells. We describe steps for tissue dissection, cell isolation for flow cytometry analysis, and RNA isolation for RNA sequencing library preparation and analysis. This protocol can provide insights into altered immunological pathways during intrauterine infections to develop new therapeutic strategies. For complete details on the use and execution of this protocol, please refer to Presicce et al..
Topics: Amnion; Humans; Flow Cytometry; Female; Pregnancy; Animals; Placenta; Cell Separation; Gene Expression Profiling; Transcriptome; Macaca mulatta
PubMed: 38678572
DOI: 10.1016/j.xpro.2024.103044 -
SAGE Open Nursing 2024Asphyxia at birth remains the leading cause of neonatal morbidity and mortality worldwide, accounting for ∼23% of all neonatal deaths. Although the causes vary from...
INTRODUCTION
Asphyxia at birth remains the leading cause of neonatal morbidity and mortality worldwide, accounting for ∼23% of all neonatal deaths. Although the causes vary from country to country, early identification and treatment of risk factors can improve the situation.
OBJECTIVES
To determine the risk factors of birth asphyxia in hospital-delivered neonates in Dodoma, Tanzania.
METHODS
A matched case-control study was conducted from May to July 2017 at Dodoma Region Referral Hospital. Data were collected using a semistructured questionnaire and a standard antenatal care index card. Cases were neonates diagnosed with asphyxia at birth ( = 100), while controls were neonates not diagnosed with asphyxia at birth ( = 300). A binary logistic regression model was used to assess the independent variables associated with birth asphyxia and reported as crude and adjusted odds ratios along with their 95% confidence intervals.
RESULTS
A total of 400 newborns and their birth mothers were involved in the study. The average age of the case mothers was 26.9 years ( = 7.85) and that of the control mothers was 27.24 years ( = 6.08). Place of residence, anemia, maternal age, prenatal visits attended, use of herbs during labor, previously complicated pregnancy, duration of labor, meconium-stained amniotic fluid, and mode of delivery were predictors of birth asphyxia.
CONCLUSION
The study showed that most predictors of birth asphyxia can be prevented. The results suggest appropriate health education before conception, effective follow-up through prenatal care, early identification and treatment of high-risk pregnant women, and proper monitoring of labor and delivery.
PubMed: 38665876
DOI: 10.1177/23779608241246874 -
Heliyon Apr 2024Myelomeningocele is a common congenital anomaly associated with polygenic disorders worldwide. However, the intricate molecular mechanisms underlying myelomeningocele...
Myelomeningocele is a common congenital anomaly associated with polygenic disorders worldwide. However, the intricate molecular mechanisms underlying myelomeningocele remain elusive. To investigate whether ferroptosis and ferritinophagy contribute to the pathomechanism of myelomeningocele, differentially expressed genes (DEGs) were identified as novel biomarker and potential treatment agents. The GSE101141 dataset from Gene Expression Omnibus (GEO) was analyzed using GEO2R web tool to obtain DEGs based on |log2 fold change (FC)|≥1.5 and < 0.05. Two datasets from the Ferroptosis Database (481 genes) and Autophagy Database (551 genes) were intersected with the DEGs from the GSE101141 dataset to identify ferroptosis- and autophagy-related DEGs using Venn diagrams. Functional and pathway enrichment, protein-protein interaction (PPI) network analyses were performed, and candidate genes were selected. Transcription factors (TFs), microRNAs (miRNAs), diseases and chemicals interacting with the candidate genes were identified. Receiver operating characteristic (ROC) curve analysis was performed to validate the diagnostic value of the candidate genes. Sixty ferroptosis-related and 74 autophagy-related DEGs were identified. These DEGs are involved in FoxO signaling pathway. Six candidate genes (, , , , , and ) were selected. miRNAs such as hsa-miR-27a-3p, hsa-miR-877-5p, and hsa-miR-892b, and TFs including P53, POU3F2, TATA are involved in regulation of candidate genes. Diseases such as schizophrenia, fibrosis, and neoplasms are the most relevant to the candidate genes. Chemicals, such as resveratrol, curcumin, and quercetin may have significant implications in the treatment of myelomeningocele. The candidate genes, especially , also showed a high diagnostic value for myelomeningocele. These results help to shed light on the molecular mechanism of myelomeningocele and may provide new insights into diagnostic biomarker in the amniotic fluid and potential therapeutic agents of myelomeningocele.
PubMed: 38660270
DOI: 10.1016/j.heliyon.2024.e29654 -
Canine and feline foetal fluids: Volume, hormonal and biochemical characterization during pregnancy.Veterinary Medicine and Science May 2024This study aimed to evaluate the volume, the concentration of steroid hormones, and biochemical composition of the foetal fluids at different gestational ages in dogs...
BACKGROUND AND OBJECTIVES
This study aimed to evaluate the volume, the concentration of steroid hormones, and biochemical composition of the foetal fluids at different gestational ages in dogs and cats.
METHODS
Following the ovariohysterectomy, the allantoic and amniotic fluid samples were collected from pregnant bitches and queens and were assigned to different groups according to their gestational age.
RESULTS
The canine and feline allantoic fluid volume increased during pregnancy, reached its maximum values on days 40-49 and then decreased. The canine and feline amniotic fluid volume increased steadily by the last days of pregnancy. In spite of significant changes of sex hormones in the foetal fluids, their concentration and ratios were not significantly different between male and female fetuses. The canine amniotic cortisol concentration increased until days 40-49 and decreased significantly afterwards. The maximum cortisol concentrations in the feline allantoic and amniotic fluids were observed on days 50-60 and 40-49, respectively. During the canine pregnancy, the concentrations of calcium, phosphorus, chloride, sodium, triglyceride, cholesterol, total protein, albumin and the activities of aminotransferase (AST), alkaline phosphatase (ALP), amylase and gamma-glutamyl transferase (GGT) in the amniotic fluid were higher than the allantoic fluid. The magnesium, potassium, lactate dehydrogenase (LDH) activity, creatine and lipase were higher in the allantoic fluid. In the feline allantoic fluid, potassium, magnesium, phosphorus, creatinine, albumin and glucose concentrations and the activities of creatine kinase (CK), GGT, LDH and lipase were higher. The ALP, AST activities, sodium and calcium concentrations were higher in the amniotic fluid (p < 0.05).
CONCLUSION
Volume of foetal fluids was determined in dogs and cats. Concentration of sex hormones did not different between male and female fetuses.
Topics: Animals; Cats; Dogs; Female; Pregnancy; Amniotic Fluid; Male; Pregnancy, Animal; Gestational Age; Hydrocortisone; Allantois
PubMed: 38654677
DOI: 10.1002/vms3.1452