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Journal of Education and Health... 2023Sirenomelia is an extremely uncommon congenital deformity in which neonate has fused lower limbs associated with various visceral malformations including urogenital and...
Sirenomelia is an extremely uncommon congenital deformity in which neonate has fused lower limbs associated with various visceral malformations including urogenital and gastrointestinal tract, pulmonary hypoplasia, and potter's facies. The prevalence is 0.8 to 1 per 100,000 newborns. About 300 cases were recorded till date. We describe a case of 31-year G4P1L1A2 with previous lower segment caesarean section with gestational age of 22 weeks 5 days with anomaly scan suggestive of single live intrauterine pregnancy of 21 weeks 5 days with bilateral renal agenesis with placenta previa and no demonstrable amniotic fluid pocket seen. Her pregnancy was uneventful without any medical disorder, drug history, and no congenital anomaly in the family. Termination of pregnancy done by emergency hysterotomy and delivered anomalous foetus with fused lower limb with absent toes, low set ears, absent left ear ostium, imperforate anus, and absent external genitalia. Sirenomelia is fatal congenital anomaly with unclear etiology. Early antenatal diagnosis and termination of pregnancy is the treatment.
PubMed: 37727419
DOI: 10.4103/jehp.jehp_160_23 -
SAGE Open Medicine 2024Over the past few years, gestational diabetes mellitus has become more common. According to earlier research, gestational diabetes mellitus is linked to higher uric acid...
BACKGROUND
Over the past few years, gestational diabetes mellitus has become more common. According to earlier research, gestational diabetes mellitus is linked to higher uric acid levels, and gestational hyperuricemia is linked to poor maternal and neonatal outcomes.
AIM AND OBJECTIVES
To assess the influence of elevated uric acid >5 mg/dl on pregnancy outcomes such as neonatal weight, respiratory distress, preterm delivery, neonatal intensive care unit admission, premature membrane rupture, oligohydramnios, cesarean section, and intensive care admission for mothers.
SETTING AND METHODS
It is a prospective cohort study, carried out at obstetric/family medicine outpatient clinics, Cairo University Hospitals on 221 pregnant females with gestational diabetes mellitus in their third trimester of pregnancy, selected by random sampling, performed structured interviews, and tested for serum uric acid level and were separated into two groups, those with elevated uric acid >5 mg/dl (121) and those without elevated uric acid ⩽5 mg/dl (100) patients and then followed up until delivery in Cairo University Hospitals for collecting pregnancy outcome data.
RESULTS
There were statistically significant differences between the antepartum uric acid and neonatal complications, maternal complications, preterm, macrosomia, neonatal intensive care unit admission, premature rupture of membranes, oligohydramnios, and cesarean section between both groups.
CONCLUSIONS
This study showed that elevated serum uric acid >5 mg/dl can predict the incidence of maternal and neonatal problems in gestational diabetes mellitus including preterm, macrosomia, neonatal intensive care unit admission, premature rupture of membranes, oligohydramnios, and cesarean section.
PubMed: 38566965
DOI: 10.1177/20503121241241934 -
Journal of Global Health Mar 2024China's fertility policy has dramatically changed in the past decade with the successive promulgation of the partial two-child policy, universal two-child policy and...
BACKGROUND
China's fertility policy has dramatically changed in the past decade with the successive promulgation of the partial two-child policy, universal two-child policy and three-child policy. The trajectories of maternal and neonatal health accompanied the changes in fertility policy are unknown.
METHODS
We obtained data of 280 203 deliveries with six common pregnancy complications and thirteen perinatal outcomes between 2010 and 2021 in eastern China. The average annual percent change (AAPC) was calculated to evaluated the temporal trajectories of obstetric characteristics and adverse outcomes during this period. Then, the autoregressive integrated moving average (ARIMA) models were constructed to project future trend of obstetric characteristics and outcomes until 2027.
RESULTS
The proportion of advanced maternal age (AMA), assisted reproduction technology (ART) treatment, gestational diabetes mellitus (GDM), anaemia, thrombocytopenia, thyroid dysfunction, oligohydramnios, placental abruption, small for gestational age (SGA) infants, and congenital malformation significantly increased from 2010 to 2021. However, the placenta previa, large for gestational age (LGA) infants and stillbirth significantly decreased during the same period. The AMA and ART treatment were identified as independent risk factors for the uptrends of pregnancy complications and adverse perinatal outcomes. The overall caesarean section rate remained above 40%. Importantly, among multiparas, a previous caesarean section was found to be associated with a significantly reduced risk of hypertensive disorders of pregnancy (HDP), premature rupture of membranes (PROM), placenta previa, placental abruption, perinatal asphyxia, LGA infants, stillbirths, and preterm births. In addition, the ARIMA time series models predicted increasing trends in the ART treatment, GDM, anaemia, thrombocytopenia, postpartum haemorrhage, congenital malformation, and caesarean section until 2027. Conversely, a decreasing trend was predicted for HDP, PROM, and placental abruption premature, LGA infants, SGA infants, perinatal asphyxia, and stillbirth.
CONCLUSIONS
Maternal and neonatal adverse outcomes became more prevalent from 2010 to 2021 in China. Maternal age and ART treatment were independent risk factors for adverse obstetric outcomes. The findings offered comprehensive trajectories for monitoring pregnancy complications and perinatal outcomes in China, and provided robust intervention targets in obstetric safety. The development of early prediction models and the implementation of prevention efforts for adverse obstetric events are necessary to enhance obstetric safety.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Abruptio Placentae; Anemia; Asphyxia; Cesarean Section; Cross-Sectional Studies; Infant Health; Placenta; Placenta Previa; Pregnancy Complications; Pregnancy Outcome; Premature Birth; Retrospective Studies; Stillbirth; Thrombocytopenia
PubMed: 38515427
DOI: 10.7189/jogh.14.04069 -
Cureus Jul 2023Background Isolated oligohydramnios, without any known fetal/maternal abnormality, may be associated with insufficient oral intake (such as water, glucose, and...
Background Isolated oligohydramnios, without any known fetal/maternal abnormality, may be associated with insufficient oral intake (such as water, glucose, and rehydration therapy). Therefore, the present study was conducted to assess the improvement following maternal hydration. Method A total of 50 cases of isolated oligohydramnios (other high-risk pregnancy conditions not present) were included in the study (25 in each group). Patients were encouraged for an additional 2 liters of oral rehydration solution intake daily along with regular diet. The fluid intake was unsupervised in the home group and supervised in the hospital group. Serial amniotic fluid index (AFI) measurements and fetal monitoring were performed. Birth weight and APGAR scores were recorded, and data were analyzed. Results The two groups were comparable in terms of demographics and baseline laboratory findings. AFI significantly improved in the hospital group compared to the home group (p-value: <0.001). Birth weight, placental weight, and APGAR scores were also significantly better in the hospital group than in the home group. Conclusion Maternal oral hydration therapy improves the amniotic fluid volume and subsequently improves the perinatal outcome. Due to poor compliance with home-based treatment, institution of supervised hydration therapy is recommended.
PubMed: 37539407
DOI: 10.7759/cureus.41326 -
Children (Basel, Switzerland) Mar 2024MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor... (Review)
Review
MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym MIRAGE. The aims of this paper are (1) to present fetal ultrasound features in a case where MIRAGE syndrome was diagnosed prenatally and (2) to review the existing literature records on prenatal manifestations of MIRAGE syndrome. In our case, the fetus had severe early fetal growth restriction (FGR) with normal Doppler studies, atypical genitalia, oligohydramnios, and hyperechogenic bowel at the routine mid-gestation anomaly scan. Amniocentesis excluded infections and numeric or structural chromosomal abnormalities while whole exome sequencing (WES) of the fetal genetic material identified the specific mutation. Targeted testing in parents was negative, suggesting the "de novo" mutation in the fetus. We could not identify other specific case reports in the literature on the prenatal diagnosis of MIRAGE syndrome. In cases reported in the literature where the diagnosis of MIRAGE syndrome was achieved postnatally, there are mentions related to the marked FGR on prenatal ultrasound. Severe early-onset FGR with no other apparent cause seems to be a central prenatal feature in these babies, and WES should be offered, especially if there are other structural abnormalities. Prenatal diagnosis of MIRAGE syndrome is possible, allowing for reproductive choices, improved counseling of parents, and better preparation of neonatal care.
PubMed: 38539345
DOI: 10.3390/children11030310 -
Cureus Nov 2023Preeclampsia is associated with the incidence of common fetal problems including intra-uterine growth restriction (IUGR), premature delivery oligohydramnios, placental...
BACKGROUND
Preeclampsia is associated with the incidence of common fetal problems including intra-uterine growth restriction (IUGR), premature delivery oligohydramnios, placental abruption, fetal discomfort, and intrauterine fetal death. Pregnant women are not well-informed about preeclampsia, including its symptoms, risk factors, and consequences. The aim of the current study is to evaluate the awareness of preeclampsia and its associated factors among women in the Al Baha region, Saudi Arabia.
METHODOLOGY
An observational cross-sectional design was employed to assess the awareness of preeclampsia and its associated factors among women in the Al Baha region of Saudi Arabia. Data was collected from April 2023 to September 2023. A questionnaire was designed to gather information on participants' sociodemographic characteristics (such as age, educational level, and residency) and their awareness of preeclampsia, including knowledge about signs/symptoms, risk factors, and complications.
RESULTS
In the current study, we included 485 pregnant women. The majority of participants were aged 40 years or older (37.5%), followed by those aged 35-39 (20.4%). Among the participants, 70.9% confirmed that they had heard about pre-eclampsia before. The most common signs and symptoms were high blood pressure (47.4%), increased protein in urine (40.2%), continuous headache (39.2%), and vomiting/nausea (40.0%). Participants demonstrated awareness of obesity (29.7%), diabetes mellitus (35.5%), chronic hypertension (47.0%), and chronic kidney disease (31.3%) as major risk factors. Participants were aware of potential risks such as kidney disorders (34.6%), heart disorders (23.7%), and preterm delivery (50.9%). The analysis reveals that younger participants below 20 years old (3.3%) and lower educational levels (5.6%) had lower awareness of preeclampsia compared to older age groups.
CONCLUSION
The findings of this study highlight a reasonable level of preeclampsia awareness and knowledge among Saudi Arabian women residing in the Al Baha region. While the majority of participants were familiar with preeclampsia, there were significant knowledge gaps regarding the precise symptoms, risk factors, and consequences of the condition.
PubMed: 38116365
DOI: 10.7759/cureus.49038 -
International Journal of Molecular... Dec 2023This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult...
This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult patient cases evaluated with kidney biopsy for proteinuria, chronic kidney disease, and hypertension, which were suggestive of adult-onset genetic FSGS. Renal biopsy samples and formalin-fixed, paraffin-embedded fetal kidneys were evaluated using standard light microscopical stainings, direct immunofluorescence on cryostat sections, and electron microscopy. Clinical exome sequencing was performed for each case, and 45 FSGS-related genes were analyzed. Identifying mutations in the , , and genes have prompted a re-evaluation of the previous histopathological examinations. The mutation led to a thinner nephrogenic zone and decreased number of glomeruli, resulting in oligohydramnios during fetal development and oligomeganephronia and adaptive focal-segmental glomerulosclerosis in adulthood. The mutation caused distinct electron-dense aggregates in podocyte cell bodies, while the mutation led to segmental sclerosis of glomeruli with marked interstitial fibrosis and tubular atrophy. The identification of specific mutations and their histopathological consequences can lead to a better understanding of the disease and its progression, as well as potential treatment options.
Topics: Adult; Humans; Glomerulosclerosis, Focal Segmental; Kidney Glomerulus; Mutation; Phenotype; Genotype
PubMed: 38139322
DOI: 10.3390/ijms242417489 -
The Journal of Clinical Investigation Jan 2024Premature birth disrupts normal lung development and places infants at risk for bronchopulmonary dysplasia (BPD), a disease disrupting lung health throughout the life of...
Premature birth disrupts normal lung development and places infants at risk for bronchopulmonary dysplasia (BPD), a disease disrupting lung health throughout the life of an individual and that is increasing in incidence. The TGF-β superfamily has been implicated in BPD pathogenesis, however, what cell lineage it impacts remains unclear. We show that TGFbr2 is critical for alveolar epithelial (AT1) cell fate maintenance and function. Loss of TGFbr2 in AT1 cells during late lung development leads to AT1-AT2 cell reprogramming and altered pulmonary architecture, which persists into adulthood. Restriction of fetal lung stretch and associated AT1 cell spreading through a model of oligohydramnios enhances AT1-AT2 reprogramming. Transcriptomic and proteomic analyses reveal the necessity of TGFbr2 expression in AT1 cells for extracellular matrix production. Moreover, TGF-β signaling regulates integrin transcription to alter AT1 cell morphology, which further impacts ECM expression through changes in mechanotransduction. These data reveal the cell intrinsic necessity of TGF-β signaling in maintaining AT1 cell fate and reveal this cell lineage as a major orchestrator of the alveolar matrisome.
Topics: Humans; Mice; Animals; Infant, Newborn; Receptor, Transforming Growth Factor-beta Type II; Pulmonary Alveoli; Transforming Growth Factor beta; Mechanotransduction, Cellular; Proteomics; Alveolar Epithelial Cells; Lung; Cell Differentiation; Extracellular Matrix; Bronchopulmonary Dysplasia; Transcription, Genetic
PubMed: 38488000
DOI: 10.1172/JCI172095 -
Diagnostics (Basel, Switzerland) Apr 2024: To evaluate the clinical usefulness of demographic data, fetal imaging findings and urinary analytes were used for predicting poor postnatal renal function in children... (Review)
Review
: To evaluate the clinical usefulness of demographic data, fetal imaging findings and urinary analytes were used for predicting poor postnatal renal function in children with congenital megacystis. : A systematic review was conducted in MEDLINE's electronic database from inception to December 2023 using various combinations of keywords such as "luto" [All Fields] OR "lower urinary tract obstruction" [All Fields] OR "urethral valves" [All Fields] OR "megacystis" [All Fields] OR "urethral atresia" [All Fields] OR "megalourethra" [All Fields] AND "prenatal ultrasound" [All Fields] OR "maternal ultrasound" [All Fields] OR "ob-stetric ultrasound" [All Fields] OR "anhydramnios" [All Fields] OR "oligohydramnios" [All Fields] OR "renal echogenicity" [All Fields] OR "biomarkers" [All Fields] OR "fetal urine" [All Fields] OR "amniotic fluid" [All Fields] OR "beta2 microglobulin" [All Fields] OR "osmolarity" [All Fields] OR "proteome" [All Fields] AND "outcomes" [All Fields] OR "prognosis" [All Fields] OR "staging" [All Fields] OR "prognostic factors" [All Fields] OR "predictors" [All Fields] OR "renal function" [All Fields] OR "kidney function" [All Fields] OR "renal failure" [All Fields]. Two reviewers independently selected the articles in which the accuracy of prenatal imaging findings and fetal urinary analytes were evaluated to predict postnatal renal function. : Out of the 727 articles analyzed, 20 met the selection criteria, including 1049 fetuses. Regarding fetal imaging findings, the predictive value of the amniotic fluid was investigated by 15 articles, the renal appearance by 11, bladder findings by 4, and ureteral dilatation by 2. The postnatal renal function showed a statistically significant relationship with the occurrence of oligo- or anhydramnion in four studies, with an abnormal echogenic/cystic renal cortical appearance in three studies. Single articles proved the statistical prognostic value of the amniotic fluid index, the renal parenchymal area, the apparent diffusion coefficient (ADC) measured on fetal diffusion-weighted MRI, and the lower urinary tract obstruction (LUTO) stage (based on bladder volume at referral and gestational age at the appearance of oligo- or anhydramnios). Regarding the predictive value of fetal urinary analytes, sodium and β2-microglobulin were the two most common urinary analytes investigated (n = 10 articles), followed by calcium (n = 6), chloride (n = 5), urinary osmolarity (n = 4), and total protein (n = 3). Phosphorus, glucose, creatinine, and urea were analyzed by two articles, and ammonium, potassium, N-Acetyl-l3-D-glucosaminidase, and microalbumin were investigated by one article. The majority of the studies (n = 8) failed to prove the prognostic value of fetal urinary analytes. However, two studies showed that a favorable urinary biochemistry profile (made up of sodium < 100 mg/dL; calcium < 8 mg/dL; osmolality < 200 mOsm/L; β2-microglobulin < 4 mg/L; total protein < 20 mg/dL) could predict good postnatal renal outcomes with statistical significance and urinary levels of β2-microglobulin were significantly higher in fetuses that developed an impaired renal function in childhood (10.9 ± 5.0 mg/L vs. 1.3 ± 0.2 mg/L, -value < 0.05). : Several demographic data, fetal imaging parameters, and urinary analytes have been shown to play a role in reliably triaging fetuses with megacystis for the risk of adverse postnatal renal outcomes. We believe that this systematic review can help clinicians for counseling parents on the prognoses of their infants and identifying the selected cases eligible for antenatal intervention.
PubMed: 38611669
DOI: 10.3390/diagnostics14070756 -
Doppler in High-Risk Pregnancy and Its Correlation With Feto-Maternal Outcomes: A Prospective Study.Cureus Mar 2024In the current times, fetal growth monitoring has become readily available with the help of Doppler ultrasound. Identification of pregnancies that are at risk for...
INTRODUCTION
In the current times, fetal growth monitoring has become readily available with the help of Doppler ultrasound. Identification of pregnancies that are at risk for perinatal morbidity and mortality has been a primary goal of obstetric care. Doppler study is a fast, non-invasive test that provides significant information about the hemodynamic status of the fetus. It is an efficient diagnostic modality to assess fetal compromise, which helps in timely intervention in high-risk pregnancies for better perinatal outcomes.
OBJECTIVES
The objectives of this study were to know the correlation between antenatal Doppler findings and perinatal outcomes, including preterm labor, cesarean section, birth weight, and rate of admission of neonates in the neonatal intensive care unit (NICU). Admission to NICU was taken as the primary outcome.
METHODS
This is a tertiary care hospital-based prospective study done at Maharaja Agrasen Medical College, Agroha, India. A hundred high-risk pregnant women with oligohydramnios, intrauterine growth restriction (IUGR), pregnancy-induced hypertension (PIH), diabetes mellitus (DM), anemia, or Rh incompatibility were included. Pregnancies in the first and second trimesters and congenital anomalies in babies were excluded from the study. The patients were examined for a Doppler study of the umbilical artery, fetal middle cerebral artery (MCA), and both maternal uterine arteries. Parameters in the form of a resistance index (RI), pulsatility index (PI), and systolic/diastolic ratio (S/D) of all the arteries were taken. Details of delivery and fetal outcomes were recorded. Data were correlated with Doppler findings. For comparing categorical data, the chi-square (X) test and Fisher's exact test were performed. The comparison of continuous data between the two groups was done using an independent t-test. All statistical calculations were done using the computer program IBM SPSS Statistics for Windows, version 25 (released 2015; IBM Corp., Armonk, New York, United States).
RESULTS
All the 100 cases with either normal or abnormal Doppler were comparable in terms of maternal age and parity. The prevalence of oligohydramnios was 27% (N = 27), PIH was seen in 20% (N = 20), anemia in 19% (N = 19), IUGR in 12% (N = 12), and oligohydramnios with IUGR in 13% (N = 13). In oligohydramnios, maternal anemia, Rh incompatibility, and DM, Doppler was found to be normal. In PIH, IUGR, and oligohydramnios with IUGR, abnormal Doppler was seen in four (20%), two (16%), and 10 (76%) cases, respectively. Among 84 candidates with normal Doppler, 49 (58%) got delivered by the vaginal route. Out of 16 abnormal Doppler cases, five were vaginally delivered (31%). Among 16 patients with abnormal Doppler, 15 patients, i.e., 93.75%, had low birth weight (LBW, <2.5 kg) (p-value < 0.001), 93.75% (N = 15) delivered before 37 weeks, and 13 (81.25%) newborns were admitted in the nursery.
CONCLUSION
Abnormal Doppler was associated with an increased rate of low birth weight and admissions to the NICU with no effect on preterm delivery or cesarean section rates. The study strengthens the fact that Doppler studies in mothers can be used to plan the mode of delivery, predict the need for resuscitation, and anticipate the outcome of newborns.
PubMed: 38650793
DOI: 10.7759/cureus.56751