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Biomedicines Jul 2022Mass spectrometry-based proteomics have become a valued tool for conducting comprehensive analyses in amniotic fluid samples with pathologies. Our research interest is...
Mass spectrometry-based proteomics have become a valued tool for conducting comprehensive analyses in amniotic fluid samples with pathologies. Our research interest is the finding and characterization of proteins related to normal vs. polyhydramnios (non-immune hydrops) pregnancy. Proteomic analysis was performed on proteins isolated from fresh amniotic fluid samples. Proteins were fractionated by 2DE using a different pI range (pI 3-11, pI 4-7) and analyzed with MALDI-TOF-MS. Furthermore, by using computational analysis, identified proteins in protein maps specific to normal vs. polyhydramnios pregnancy were compared and the quantities of expressed proteins were evaluated mathematically. Comparative analysis of proteome characteristic for the same polyhydramnios pregnancy fractionated by 2DE in different pI range (3-11 and 4-7) was performed and particular protein groups were evaluated for the quantification of changes within the same protein level. Proteins of normal and polyhydramnios pregnancies were fractionated by 2DE in pI range 3-11 and in pI range 4-7. Mass spectrometry analysis of proteins has revealed that the quantity changes of the main identified proteins in normal vs. polyhydramnios pregnancy could be assigned to immune response and inflammation proteins, cellular signaling and regulation proteins, metabolic proteins, etc. Specifically, we have identified and characterized proteins associated with heart function and circulatory system and proteins associated with abnormalities in prenatal medicine. The following are: serotransferrin, prothrombin, haptoglobin, transthyretin, alpha-1-antitrypsin, zinc-alpha-2-glycprotein, haptoglobin kininogen-1, hemopexin, clusterin, lumican, afamin, gelsolin. By using computational analysis, we demonstrated that some of these proteins increased a few times in pathological pregnancy. Computer assistance analysis of 2DE images suggested that, for the better isolation of the proteins' isoforms, those levels increased/decreased in normal vs. polyhydramnios pregnancy, and the fractionation of proteins in pI rage 3-11 and 4-7 could be substantial. We analyzed and identified by MS proteins specific for normal and polyhydramnios pregnancies. Identified protein levels increased and/or modification changed in case of non-immune hydrops fetus and in cases of cardiovascular, anemia, growth restriction, and metabolic disorders. Computational analysis for proteomic characterization empower to estimate the quantitative changes of proteins specific for normal vs. polyhydramnios pregnancies.
PubMed: 36009368
DOI: 10.3390/biomedicines10081821 -
Quantitative Imaging in Medicine and... Jul 2021Examine the effectiveness of prenatal ultrasound diagnostics in the detection of cardiovascular malformations, and their association with polyhydramnios and...
BACKGROUND
Examine the effectiveness of prenatal ultrasound diagnostics in the detection of cardiovascular malformations, and their association with polyhydramnios and oligohydramnios.
METHODS
We examined the fetal ultrasonography and postnatal clinical/fetopathological data of 372 newborns/fetuses over a 7-year period in a tertiary centre. Fetal echocardiography was performed in cases of suspected US findings between 18-32 weeks. During the ultrasound the amniotic fluid amount was measured and the amniotic fluid index (AFI) or largest amniotic fluid pocket was determined.
RESULTS
Prenatal ultrasonographic results and postnatal/fetopathological diagnosis were fully congruent in 236/372 cases (63.4%), and in 66/372 cases of cardiovascular anomalies (17.7%) the discovery was partial, while in 70/372 cases no fetal cardiovascular anomalies were diagnosed during pregnancy (18.8%) (false negative). Cardiovascular malformations were isolated in 255 cases, in 172 of which (67.5%) the results of prenatal ultrasonography and postnatal diagnostics were fully congruent. In 43 cases (16.9%) the prenatal discovery was partial, and in 40 cases (15.7%) there was no prenatal recognition of the malformation. Cardiovascular abnormalities were found as a part of multiple malformations in 76 cases. In 41 fetuses the cardiovascular malformation was associated with chromosomal abnormalities. Cardiovascular malformations were significantly associated with polyhydramnios. Although in some of the cardiovascular malformations the association rate with polyhydramnios was high (AVSD, double outlet right ventricle, tetralogy of Fallot), we found a moderate association rate (19.7%). The association with oligohydramnios was 8.57%.
CONCLUSIONS
Echocardiography plays an important role in the prenatal diagnostics. In cases of polyhydramnios and oligohydramnios, fetal echocardiography should be performed.
PubMed: 34249629
DOI: 10.21037/qims-20-823 -
Scientific Reports Aug 2023Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular...
Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical symptoms. The aim of our study was to describe the different molecular findings in patients with a clinical diagnosis of classic BS. We included 27 patients (26 families) with no identified pathogenic variants in CLCNKB. We used a customized Ion AmpliSeq Next-Generation Sequencing panel including 44 genes related to renal tubulopathies. We detected pathogenic or likely pathogenic variants in 12 patients (44%), reaching a conclusive genetic diagnosis. Variants in SLC12A3 were found in 6 (Gitelman syndrome). Median age at diagnosis was 14.6 years (range 0.1-31), with no history of prematurity or polyhydramnios. Serum magnesium level was low in 2 patients (33%) but urinary calcium excretion was normal or low in all, with no nephrocalcinosis. Variants in SLC12A1 were found in 3 (BS type 1); and in KCNJ1 in 1 (BS type 2). These patients had a history of polyhydramnios in 3 (75%), and the mean gestational age was 34.2 weeks (SD 1.7). The median age at diagnosis was 1.8 years (range 0.1-6). Chronic kidney disease and nephrocalcinosis were present in 1 (25%) and 3 (75%) patients, respectively. A variant in CLCN5 was found in one patient (Dent disease), and in NR3C2 in another patient (Geller syndrome). Genetic diagnosis of BS is heterogeneous as different tubulopathies can present with a similar clinical picture. The use of gene panels in these diseases becomes more efficient than the study gene by gene with Sanger sequencing.
Topics: Female; Humans; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Bartter Syndrome; Polyhydramnios; Genotype; Solute Carrier Family 12, Member 1; Nephrocalcinosis; Chloride Channels; Solute Carrier Family 12, Member 3
PubMed: 37537162
DOI: 10.1038/s41598-023-38179-6 -
Frontiers in Endocrinology 2023The prevalence of gestational diabetes mellitus (GDM) and advanced maternal age (AMA, ≥ 35 years) has shown an increasing trend worldwide. This study aimed to evaluate...
BACKGROUND
The prevalence of gestational diabetes mellitus (GDM) and advanced maternal age (AMA, ≥ 35 years) has shown an increasing trend worldwide. This study aimed to evaluate the risk of pregnancy outcomes among younger (20-34 years) and older (≥ 35 years) women with GDM and further analyze the epidemiologic interaction of GDM and AMA on these outcomes.
METHODS
This historical cohort study included 105 683 singleton pregnant women aged 20 years or older between January 2012 and December 2015 in China. Stratified by maternal age, the associations between GDM and pregnancy outcomes were analyzed by performing logistic regression. Epidemiologic interactions were assessed by using relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (SI) with their 95% confidence intervals (95%CIs).
RESULTS
Among younger women, individuals with GDM had a higher risk of all maternal outcomes, preterm birth (relative risk [RR] 1.67, 95%CI 1.50-1.85), low birthweight (RR 1.24, 95%CI 1.09-1.41), large for gestational age (RR 1.51, 95%CI 1.40-1.63), macrosomia (RR 1.54, 95%CI 1.31-1.79), and fetal distress (RR 1.56, 95%CI 1.37-1.77) than those without GDM. Among older women, GDM increased the risk of gestational hypertension (RR 2.17, 95%CI 1.65-2.83), preeclampsia (RR 2.30, 95%CI 1.81-2.93), polyhydramnios (RR 3.46, 95%CI 2.01-5.96), cesarean delivery (RR 1.18, 95%CI 1.10-1.25), preterm birth (RR 1.35, 95%CI 1.14-1.60), large for gestational age (RR 1.40, 95%CI 1.23-1.60), macrosomia (RR 1.65, 95%CI 1.28-2.14) and fetal distress (RR 1.46, 95%CI 1.12-1.90). Additive interactions of GDM and AMA on polyhydramnios and preeclampsia were found, with RERI of 3.11 (95%CI 0.05-6.16) and 1.43 (95%CI 0.09-2.77), AP of 0.51 (95%CI 0.22-0.80) and 0.27 (95%CI 0.07-0.46), and SI of 2.59 (95%CI 1.17-5.77) and 1.49 (95%CI 1.07-2.07), respectively.
CONCLUSION
GDM is an independent risk factor for multiple adverse pregnancy outcomes, and may exert additive interactions with AMA on the risk of polyhydramnios and preeclampsia.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Aged; Diabetes, Gestational; Pregnancy Outcome; Fetal Macrosomia; Cohort Studies; Pre-Eclampsia; Premature Birth; Maternal Age; Polyhydramnios; Fetal Distress; Infant, Newborn, Diseases
PubMed: 37234802
DOI: 10.3389/fendo.2023.1158969 -
Children (Basel, Switzerland) Jan 2022Duodenal obstruction is a rare cause of congenital bowel obstruction. Prenatal ultrasound could be suggestive of duodenal atresia if polyhydramnios and the double bubble...
BACKGROUND
Duodenal obstruction is a rare cause of congenital bowel obstruction. Prenatal ultrasound could be suggestive of duodenal atresia if polyhydramnios and the double bubble sign are visible. Prenatal diagnosis should prompt respective prenatal care, including surgery. The aim of this study was to investigate the rate and importance of prenatally diagnosed duodenal obstruction, comparing incomplete and complete duodenal obstruction.
METHODS
A retrospective, single-center study was performed using data from patients operated on for duodenal obstruction between 2004 and 2019. Prenatal ultrasound findings were obtained from maternal logbooks and directly from the investigating obstetricians. Postnatal data were obtained from electronic charts, including imaging, operative notes and follow-up.
RESULTS
A total of 33/64 parents of respective patients agreed to provide information on prenatal diagnostics. In total, 11/15 patients with complete duodenal obstruction and 0/18 patients with incomplete duodenal obstruction showed typical prenatal features. Prenatal diagnosis prompted immediate surgical treatment after birth.
CONCLUSION
Prenatal diagnosis of congenital duodenal obstruction is only achievable in cases of complete congenital duodenal obstruction by sonographic detection of the pathognomonic double bubble sign. Patients with incomplete duodenal obstruction showed no sign of duodenal obstruction on prenatal scans and thus were diagnosed and treated later.
PubMed: 35204881
DOI: 10.3390/children9020160 -
Clinical Kidney Journal Jan 2021The common finding of hypokalemic alkalosis in several unrelated disorders may confound the early diagnosis of salt-losing tubulopathy (SLT). Antenatal Bartter syndrome... (Review)
Review
The common finding of hypokalemic alkalosis in several unrelated disorders may confound the early diagnosis of salt-losing tubulopathy (SLT). Antenatal Bartter syndrome (BS) must be considered in idiopathic early-onset polyhydramnios. Fetal megabladder in BS may allow its distinction from third-trimester polyhydramnios that occurs in congenital chloride diarrhea (CCD). Fetal megacolon occurs in CCD while fecal chloride >90 mEq/L in infants is diagnostic. Failure-to-thrive, polydipsia and polyuria in early childhood are the hallmarks of classic BS. Unlike BS, there is low urinary chloride in hypokalemic alkalosis of intractable emesis and cystic fibrosis. Rarely, renal salt wasting may result from cystinosis, Dent disease, disorders of paracellular claudin-10b and Kir4.1 potassium-channel deficiency. Acquired BS may result from calcimimetic up-regulation of a calcium-sensing receptor or autoantibody inactivation of sodium chloride co-transporters in Sjögren syndrome. A relatively common event of heterozygous gene mutations for Gitelman syndrome increases the likelihood of its random occurrence in certain diseases of adult onset. Finally, diuretic abuse is the most common differential diagnosis of SLT. Unlike the persistent elevation in BS, urinary chloride concentration losses waxes and wanes on day-to-day assessment in patients with diuretic misuse.
PubMed: 33564404
DOI: 10.1093/ckj/sfaa172 -
Cureus Jun 2022To study the association and correlation between the amniotic fluid index, random glucose concentration, and serum glucose concentration after avoiding oral intake of...
PURPOSE
To study the association and correlation between the amniotic fluid index, random glucose concentration, and serum glucose concentration after avoiding oral intake of sugar in a pregnant female with polyhydramnios.
METHODS
The research was performed on pregnant women with polyhydramnios (n=104 ) after 28 weeks. USG was performed using a SAMSUNG HS 70A (Samsung Electronics Pvt. Ltd., Seoul, South Korea) and a GE Voluson P8 (GE Healthcare, Little Chalfont, UK). We measured amniotic fluid index and took a blood sample for hemoglobin (Hb)A1C, fasting blood glucose, post-prandial and random blood glucose, and also performed a glucose tolerance test in pregnant women.
RESULTS
This is a prospective study, all 104 patients that were recruited in this study were pregnant females with polyhydramnios mainly from the urban and rural zone with different age groups (between 21 and 37 years). In our study, we observed that after avoiding oral intake of sugar in pregnant females with polyhydramnios, it was concluded that the amnionic fluid index lies towards the lower side. Polyhydramnios is more common in the urban zone and among older pregnant females. Out of 104 pregnant females with polyhydramnios, 82 were diagnosed with gestational diabetes after 28 weeks.
CONCLUSION
In this study, we have concluded that the earliest and most sensitive predictor for gestational diabetes is a rise in the amniotic fluid index which could have been prevented by avoiding oral intake of sugar. Early prediction of gestational diabetes can be made by amniotic fluid index even before glucose concentration. We observed that by reducing oral intake of sugar, the amniotic fluid index drops down in pregnant females.
PubMed: 35855256
DOI: 10.7759/cureus.25973 -
Iranian Journal of Public Health May 2022We assessed risk factors, antenatal and intrapartum complications associated with early-onset Gestational diabetes mellitus (GDM) in comparison with late-onset GDM.
BACKGROUND
We assessed risk factors, antenatal and intrapartum complications associated with early-onset Gestational diabetes mellitus (GDM) in comparison with late-onset GDM.
METHODS
This retrospective study included 161 GDM women having singleton pregnancies, without previous medical disorder and delivered at a tertiary care Hospital in Ha'il City, KSA from Dec 2020 till Jun 2021. Women diagnosed at < 24 weeks of pregnancy were grouped as early-onset GDM (n=71) and those diagnosed at ≥ 24 weeks as late-onset GDM (n=90). Both groups were matched for background variables. Chi-square and binary logistic regression analysis were applied with -value significance at 0.05.
RESULTS
Past history of GDM, macrosomia and stillbirth were significant predictors for early-onset GDM ( value 0.000, 0.002 and 0.040 respectively). Regression analysis showed early-onset GDM significantly increases the risk for recurrent urinary tract infections (AOR 2.35), polyhydramnios (AOR 2.81), reduced fetal movements (AOR 2.13), intrauterine fetal demise (AOR 8.06), macrosomia (AOR 2.16), fetal birth trauma (2.58), low APGAR score at birth (AOR 8.06), and neonatal ICU admissions (AOR 2.65). Rate of preterm birth, hypertensive disorders, labor onset (natural vs. induced) and cesarean section and intrapartum maternal complications were same in both groups.
CONCLUSION
Early-onset GDM significantly increases certain maternal (recurrent urinary tract infections, polyhydramnios and reduced fetal movements) and fetal complications (intrauterine fetal demise, macrosomia fetal birth trauma, low APGAR score at birth and neonatal ICU admissions). Most of these adverse pregnancy outcomes can be prevented through early registration and screening, close follow up, growth ultrasounds, and provision of efficient emergency and neonatal care services.
PubMed: 36407740
DOI: 10.18502/ijph.v51i5.9418 -
BMC Pregnancy and Childbirth Jan 2021The amniotic fluid is a protective liquid present in the amniotic sac. Two types of amniotic fluid disorders have been identified. First refers to polyhydramnios, which...
BACKGROUND
The amniotic fluid is a protective liquid present in the amniotic sac. Two types of amniotic fluid disorders have been identified. First refers to polyhydramnios, which is an immoderate volume of amniotic fluid with an Amniotic Fluid Index (AFI) greater than 24 cm. Second includes oligohydramnios, which refers to decreased AFI i.e., less than 5 cm. This study aims to; a) identify the maternal risk factors associated with amniotic fluid disorders, b) assess the effect of amniotic fluid disorders on maternal and fetal outcome c) examine the mode of delivery in pregnancy complicated with amniotic fluid disorders.
METHODS
A comparative retrospective cohort study design is followed. Sample of 497 pregnant women who received care at King Abdullah bin Abdul-Aziz University Hospital (KAAUH) between January 2017 to October 2019 was included. Data were collected from electronic medical reports, and was analyzed using descriptive statistics. Association of qualitative variables was conducted by Chi-square test, where p-value < 0.05 was considered statistically significant.
RESULTS
Among the collected data, 2.8% of the cases had polyhydramnios and 11.7% patients had oligohydramnios. One case of still born was identified. A statically significant association was found between polyhydramnios and late term deliveries (P = 0.005) and cesarean section (CS) rates (P = 0.008). The rate of term deliveries was equal in normal AFI and oligohydramnios group (P = 0.005). Oligohydramnios was mostly associated with vaginal deliveries (P = 0.008). Oligohydramnios and polyhydramnios were found to be associated with diabetes mellitus patients (P = 0.005), and polyhydramnios with gestational diabetes patients (P = 0.052). Other maternal chronic diseases showed no effect on amniotic fluid index, although it might cause other risks on the fetus.
CONCLUSION
Diabetes mellitus and gestational diabetes are the most important maternal risk factors that can cause amniotic fluid disorders. Maternal and fetal outcome data showed that oligohydramnios associated with gestational age at term and low neonatal birth weight with high rates of vaginal deliveries, while polyhydramnios associated with gestational age at late term and high birth weight with higher rates of CS.
Topics: Adult; Delivery, Obstetric; Diabetes, Gestational; Female; Humans; Infant, Newborn; Oligohydramnios; Polyhydramnios; Pregnancy; Pregnancy Outcome; Retrospective Studies; Young Adult
PubMed: 33482755
DOI: 10.1186/s12884-021-03549-3 -
BMC Medical Genomics Mar 2022Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on...
BACKGROUND
Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping.
METHODS
Data from 131 singleton and 17 twin pregnancies that underwent prenatal CMA testing due to polyhydramnios between May 2017 and May 2021 were reviewed. Enrolled cases were grouped into isolated polyhydramnios (N = 39) and non-isolated polyhydramnios (N = 111). Non-isolated group was further categorized as subgroup of soft markers (n = 59) and non-soft markers (n = 52).
RESULTS
CMA revealed an additional 10 (6.7%) chromosomal aberrations with clinical significance in 9 fetuses from singleton pregnancies and 1 from a twin pregnancy. Six microdeletion/microduplication syndromes were observed, of which 4 were located on chromosome 17. The incremental yields of clinically significant CMA findings in non-isolated polyhydramnios was 8.1%, and the values in fetuses along with soft markers and non-soft markers were 5.1% and 11.5% (p > 0.05), respectively. Only one incidental finding related to neuropathy with liability to pressure palsies was detected from 39 fetuses with isolated polyhydramnios.
CONCLUSIONS
Non-isolated polyhydramnios is associated with several microdeletion/microduplication syndromes, regardless of singleton or twin pregnancies. Our results suggest insufficient evidence to recommend CMA in pregnancies with isolated polyhydramnios.
Topics: Chromosome Aberrations; Female; Fetus; Humans; Karyotyping; Microarray Analysis; Polyhydramnios; Pregnancy; Prenatal Diagnosis
PubMed: 35354480
DOI: 10.1186/s12920-022-01224-w