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1.
BMC Womens Health ; 24(1): 241, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38622524

RESUMEN

18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.


Asunto(s)
Trastornos de los Cromosomas , Trisomía , Embarazo , Femenino , Humanos , Trisomía/diagnóstico , Trisomía/genética , Diagnóstico Prenatal , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Deleción Cromosómica , Cromosomas Humanos Par 8
2.
Arch Gynecol Obstet ; 2023 Dec 13.
Artículo en Inglés | MEDLINE | ID: mdl-38091055

RESUMEN

PURPOSE: There is currently a heightened need for perinatal medical services to timely recognize and accurately meet the psychological needs of pregnant women. Psychological disturbances a mother experiences during pregnancy, such as depression and anxiety, can be later associated with inadequate maternal capacity for antenatal care for herself and the baby, and may lead to subsequent mental health problems later in the mother's life. Routine prenatal assessment could significantly benefit from being proactively enriched with early prevention mental health screening tools to assess, appropriately manage vulnerable populations, and subsequently implement preventive actions. METHODS: 178 pregnant women, under routine prenatal medical assessment, were measured regarding depressive symptomatology and stress, through the use of two validated psychometric tools (the Edinburgh Postnatal Depression Scale (EPDS) and the Perceived Stress Scale (PSS-14)). RESULTS: Heightened perceived stress and depressive symptomatology levels were associated with younger maternal age, an obstetrical record of more than one births and a history of abortion. Results additionally showed a connection between the requirement for a psychiatric referral-based on the levels of symptomatology recorded through the psychometric assessment and a clinical interview-and currently running the earlier stages (weeks) of pregnancy. CONCLUSION: Our revised proposed prenatal screening protocol for depression and stress suggests an amplified follow-up assessment including all pregnant women scoring high in both depression and in perceived stress, regardless of previous history of prenatal depression or of suicidality, to detect earlier or less manifest expressions of distress during pregnancy, in vulnerable perinatal populations.

3.
Gynecol Endocrinol ; 38(10): 822-830, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36104976

RESUMEN

Purpose: To provide an overview and critical analysis of the literature related to the circulating androgen levels of daughters of PCOS mothers during prepubertal and pubertal stage who have not yet been diagnosed with PCOS or precocious puberty. Methods: We critically considered and meta-analyzed observational studies comparing androgens concentration in daughters of PCOS mothers compared to daughters of mothers without PCOS. A literature search was conducted in MEDLINE, Scopus and other sources from 01/09/2021 until 01/12/2021. The study followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA). The primary outcome included total testosterone levels whereas the secondary outcomes included 17a-hydroxyprogesterone (17-OHP), androstenedione (Δ4Α) and Sex Hormone Binding Globulin (SHBG) levels respectively. Results: Our search yielded 1073 studies, 9 of which were included in our analysis. The results are presented differently according to pubertal stage. Pubertal daughters of PCOS mothers exhibited significantly higher total testosterone (pooled mean difference 14.95 (95%CI: 6.98 to 22.93), higher 17-OHP (pooled mean difference 0.11 (95%CI: 0.02 to 0.20) and lower SHBG levels (pooled mean difference -10.48 (95%CI: -16.46 to -4.61). Instead, prepubertal daughters of PCOS mothers presented greater SHBG levels (pooled mean difference 7.79 (95%CI: 0.03 to 15.54) compared to controls. No difference was found in Δ4Α levels in both groups. Conclusion: The onset of puberty is a critical point in the development of the disease and an early intervention may be imperative.


Asunto(s)
Síndrome del Ovario Poliquístico , Femenino , Humanos , Embarazo , 17-alfa-Hidroxiprogesterona , Andrógenos , Núcleo Familiar , Síndrome del Ovario Poliquístico/metabolismo , Pubertad/metabolismo , Globulina de Unión a Hormona Sexual/metabolismo , Testosterona , Niño , Adolescente
4.
Arch Gynecol Obstet ; 2022 Dec 29.
Artículo en Inglés | MEDLINE | ID: mdl-36580115

RESUMEN

PURPOSE: To compare the effect of a policy of screening for spontaneous preterm delivery (SPD) by transvaginal cervical length (CL) measurement versus a no screening policy in the prevention of severe prematurity. METHODS: Retrospective study on low-risk singleton pregnancies examined at 20-24 weeks. Two cohorts, one with SPD screening and the other without screening, were matched using propensity analysis to create the study groups. Women with short CL were treated with vaginal progesterone and/or cervical cerclage/pessary. The outcomes examined were SPD < 32 weeks (SPD 32) and SPD between 20 and 32 weeks (SPD 20-32). RESULTS: Screening for SPD was associated with a significant reduction in the rate of SPD at less than 32 weeks (0.3 vs. 0.8%, p = 0.001 in the screened and no screened pregnancies, respectively) and in the rate of SPD 20-32 (0.3 vs. 0.9%, p = 0.005 in the screened and no screened pregnancies, respectively). After adjusting for maternal age, parity, body mass index, smoking and mode of conception, the screening group had significantly lower hazard for SPD 20-32 (HR = 0.36, 95% CI: 0.18-0.75, p = 0.006) and SPD32 (HR = 0.39, 95% CI: 0.19-0.82, p = 0.013). CONCLUSION: Screening for SPD by transvaginal CL measurement in mid-pregnancy may reduce the incidence of severe prematurity in low-risk singleton pregnancies.

5.
Prenat Diagn ; 38(12): 928-935, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30188581

RESUMEN

OBJECTIVE: The study aims to evaluate the predictive value of first trimester placental volume in pregnancies destined to develop fetal growth restriction (FGR) and preeclampsia (PE). METHODS: Prospective observational study including placentas from 34 FGR, 12 PE, 15 GH (gestational hypertension) pregnancies, and 265 controls. Placental volume (PV) was obtained using VOCAL technique, and a z score was calculated (z-PV). The association of PV with other first trimester variables and maternal characteristics was assessed with Spearman's correlation. RESULTS: PV increased exponentially with crown-rump length (CRL) and was unrelated to maternal factors (weight, age, parity, and smoking status) as well as first trimester uterine artery Doppler, free ß-hCG, nuchal translucency, or fetal heart rate. However, PV was positively associated with maternal height, CRL, PAPP-A, and birth weight. z-PV was a strong predictor for FGR with abnormal fetal Dopplers (AUC = 0.9472, P < 0.001). z-PV provided moderate prediction of FGR with normal fetal Dopplers (AUC = 0.8396, P < 0.001), PE (AUC = 0.8312, P < 0.001), and GH (AUC = 0.7640, P < 0.001). The addition of maternal weight, PAPP-A, ß-hCG, and uterine artery Doppler improved our models. CONCLUSION: At 11 to 14 weeks, PV is an independent predictor of pregnancy complications related to placental insufficiency, and the predictive ability is greater for FGR pregnancies with abnormal fetal Dopplers.


Asunto(s)
Retardo del Crecimiento Fetal/patología , Placenta/patología , Insuficiencia Placentaria/patología , Preeclampsia/patología , Adulto , Estudios de Casos y Controles , Femenino , Retardo del Crecimiento Fetal/etiología , Humanos , Imagenología Tridimensional , Tamaño de los Órganos , Placenta/diagnóstico por imagen , Enfermedades Placentarias/patología , Preeclampsia/etiología , Valor Predictivo de las Pruebas , Embarazo , Primer Trimestre del Embarazo , Estudios Prospectivos , Sistema de Registros , Ultrasonografía Prenatal , Arteria Uterina/diagnóstico por imagen
6.
Prenat Diagn ; 37(6): 583-592, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28406537

RESUMEN

OBJECTIVE: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). METHODS: This is a comparative study using data from 2779 fetuses, which underwent invasive prenatal diagnosis, and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47, XXX, 47, XYY, and 47, XXY. Indications for invasive testing were grouped into categories and the absolute, relative rates of pathogenic/likely pathogenic results of aCGH analysis that would not be detectable by NIPS were calculated. RESULTS: The expected rate of aCGH-detected abnormalities that would not be detectable by NIPS was 28.0% (95% CI 14.3-47.6) for nuchal translucency (NT) 95 to 99th centile; 14.3% (95% 5.0-34.6) for NT > 99th centile; 34.2% (95% CI 21.1-50.1) for high-risk first-trimester results (regardless of NT); 52.4% (95% CI 32.4-71.7) for second-trimester markers; and 50.0% (95% CI 26.8-73.2) for advanced maternal age. The overall rate of aCGH pathogenic/likely pathogenic results was 5.0% and 44.0% (95% CI 36.0-52.2) of them would not be detected by NIPS. CONCLUSIONS: Approximately half of the abnormal aCGH results would not be detectable by standard NIPS assays, highlighting the necessity of pre-test counseling, and illustrating the limitations of NIPS. © 2017 John Wiley & Sons, Ltd.


Asunto(s)
Aberraciones Cromosómicas/estadística & datos numéricos , Hibridación Genómica Comparativa , Diagnóstico Prenatal/estadística & datos numéricos , Adulto , Femenino , Humanos , Pruebas de Detección del Suero Materno , Embarazo , Estudios Retrospectivos
7.
Eur J Clin Invest ; 46(5): 425-33, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26915530

RESUMEN

BACKGROUND: Foetal growth monitoring is an essential component of prenatal care with postnatal impact. The aim of the study was to construct reference ranges for foetal biometric parameters in Greek foetuses and to compare them with previously published models. MATERIALS AND METHODS: Measurements from 1200 Greek foetuses were used to construct normal curves for biparietal diameter (BPD), occipitofrontal diameter (OFD), head circumference (HC), abdominal circumference (AC), femoral length (FL) and the BPD/FL ratio according to the methodology described by Royston and Wright (1998). The model was validated in a second group of 1200 different foetuses using analysis of the corresponding standardized residuals (z-scores). The z-scores which were derived by our model were compared to those calculated using previously published models from other populations. RESULTS: BPD, OFD, HC, AC, FL and the BPD/FL ratio are accurately described by simple quadratic equations (R(2) > 0·96 for most of the parameters tested). Statistically significant differences were observed for most of the z-scores when our models were compared to previously published models. Less than 10% of our foetuses were < 5th or > 95th centile of the latter models. About 10% of our foetuses were > 95th centile for FL and HC when the INTERGROWTH-21st formulas were used. CONCLUSION: We present national foetal biometric references. Using charts from other populations (including INTERGROWTH-21st) may be unrepresentative of local populations and lead to misclassification of foetal growth status.


Asunto(s)
Desarrollo Fetal , Feto/diagnóstico por imagen , Edad Gestacional , Abdomen/diagnóstico por imagen , Adulto , Antropometría , Biometría , Cefalometría , Femenino , Fémur/diagnóstico por imagen , Grecia , Gráficos de Crecimiento , Cabeza/diagnóstico por imagen , Humanos , Memoria Episódica , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Valores de Referencia , Ultrasonografía Prenatal , Población Blanca
8.
Pediatr Res ; 80(2): 319-25, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27057736

RESUMEN

BACKGROUND: This experimental study aims to investigate the impact of combinations of prenatal and postnatal food manipulation on body composition in rat offspring. METHODS: On day 12 of gestation, 100 timed pregnant rats were randomized into two nutritional groups: standard laboratory and 50% starved. Pups born to starved mothers were subdivided, based on birthweight (BiW), into fetal growth restricted (FGR) and non-FGR. Pups were born on day 21, cross-fostered, then left undisturbed lactating until the 26th postnatal day when they underwent dual-energy X-ray absorptiometry (DXA) examination. RESULTS: Prenatally control-fed animals had a significantly greater body weight at 26 d postnatally than the prenatally starved groups, irrespective of their postnatal diet (P < 0.001). Postnatal control diet was associated with significantly increased abdominal and total fat in non-FGR compared to FGR rats (P < 0.001). non-FGR/CONTROL rats showed higher values of abdominal fat than prenatally starved animals that were starved postnatally irrespective of their birth weight (P < 0.001). Postnatal control diet significantly increased total bone mineral content (BMC), head BMC, head area, abdominal BMC in non-FGR compared to FGR rats (P < 0.001). CONCLUSION: Interaction between prenatal and postnatal nutrition affects growth, abdominal adiposity, and bone accrual in Wistar rats' offspring at 26 d of life.


Asunto(s)
Fenómenos Fisiológicos Nutricionales de los Animales , Composición Corporal , Densitometría/métodos , Estado Nutricional , Efectos Tardíos de la Exposición Prenatal/diagnóstico , Absorciometría de Fotón , Adiposidad , Animales , Animales Recién Nacidos , Peso al Nacer , Dieta Alta en Grasa , Modelos Animales de Enfermedad , Femenino , Retardo del Crecimiento Fetal , Lactancia , Masculino , Obesidad , Embarazo , Preñez , Distribución Aleatoria , Ratas , Ratas Wistar
9.
Eur J Clin Invest ; 45(10): 1025-31, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26301628

RESUMEN

BACKGROUND: Recent studies support that osteocalcin (OC), apart from its skeletal role, is implicated in glucose homoeostasis. Aims of this study were to examine the first-trimester maternal serum concentrations of OC in pregnancies that developed gestational diabetes mellitus (GDM) and to create a first-trimester prediction model for GDM. DESIGN: Case-control study in a prospective cohort of pregnant women. Maternal serum levels of OC were measured in 40 cases that developed GDM and 94 unaffected controls. First-trimester biophysical parameters, biochemical indices, maternal-pregnancy characteristics, and OC concentrations were assessed in relation to GDM occurrence. RESULTS: In the GDM group, first-trimester OC serum levels were increased compared to the control group (mean = 8·81 ng/mL, SD = 2·59 vs. mean = 7·34 ng/ml, SD = 3·04, P = 0·0058). Osteocalcin was independent of first-trimester biophysical and biochemical indices. Osteocalcin alone (OR = 1·21, CI: 1·02-1·43, P = 0·023) was a significant predictor of GDM [Model R(2) = 0·04, area under the curve (AUC) = 0·61, CI: 0·55-0·72, P < 0·001]. The combination of maternal and pregnancy characteristics with OC resulted in an improved prediction model for GDM (Model R(2) = 0·21, AUC = 0·80, CI: 0·71-0·88, P < 0·001). The combined model yields a sensitivity of 72·2% for 25% false-positive rate. CONCLUSIONS: First-trimester maternal serum levels of OC are increased in GDM pregnancies. Osteocalcin combined with maternal and pregnancy characteristics provides an effective screening for GDM at 11-14 weeks.


Asunto(s)
Diabetes Gestacional/sangre , Osteocalcina/metabolismo , Adulto , Peso al Nacer/fisiología , Glucemia/metabolismo , Estudios de Casos y Controles , Femenino , Humanos , Edad Materna , Embarazo , Primer Trimestre del Embarazo , Estudios Prospectivos
10.
Prenat Diagn ; 35(13): 1269-77, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26289927

RESUMEN

OBJECTIVE: This study aims to evaluate the diagnostic yield of comparative genomic hybridization microarrays (aCGH) and compare it with conventional karyotype analysis of standard >5-Mb resolution. METHOD: A total of 1763 prenatal samples were analyzed by aCGH (CytoChip Focus Constitutional microarrays, BlueGnome, Cambridge). The diagnostic yield of chromosomal abnormalities detected by aCGH was assessed, compared with conventional karyotype analysis. RESULTS: The result was pathogenic/unknown penetrance in 125 cases (7.1%), and a variant of unknown significance (VOUS) was detected in 13 cases (0.7%). Out of the 125 cases with abnormal findings, 110 were also detected by conventional karyotype analysis. The aCGH increment in diagnostic yield was 0.9% (15/1763) and 1.6% when VOUS were included. Stratifying the sample according to indications for prenatal invasive testing, the highest values of diagnostic yield increment were observed for patients positive for second-trimester sonographic markers (1.5%) and for the presence of fetal structural anomalies (1.3%). In contrast, the incremental yield was marginal in patients with fetus with increased nuchal translucency (0.5%). CONCLUSION: The present study indicates that routine implementation of aCGH offers an incremental yield over conventional karyotype analysis, which is also present in cases with 'milder' indications, further supporting its use as a first-tier test.


Asunto(s)
Trastornos de los Cromosomas/diagnóstico , Hibridación Genómica Comparativa , Diagnóstico Prenatal/métodos , Femenino , Humanos , Embarazo
11.
J Perinat Med ; 43(4): 485-92, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24937502

RESUMEN

AIM: To investigate the value of the birth weight of the previous pregnancy (BW1) alone and combined with the third trimester ultrasonographically estimated fetal weight (EFW) and Doppler studies in the prediction of small (SGA) and large for gestational age (LGA) neonates in the index pregnancy (BW2). METHOD: Some 1298 parous women with uncomplicated singleton pregnancies who had a third trimester ultrasound scan were considered as samples in this retrospective cohort study. Maternal and pregnancy characteristics, BW1, EFW, umbilical artery, and middle cerebral artery pulsatility indices were investigated as predictors of SGA and LGA. RESULTS: BW1, maternal weight, mode of conception, and smoking status were associated with BW2 (R2=0.39) with BW1 being the strongest predictor (R2=0.37). The addition of EFW conferred significant improvement (R2=0.63), whereas the addition of the Doppler indices did not. The sensitivity of BW1 alone in the prediction of SGA was 75% for 25% screen positive rate and increased to 92% with the addition of EFW. The equivalent figures for LGA were 68% and 93%, respectively. CONCLUSIONS: BW1 used as a continuous variable is predictive of growth deviations in the index pregnancy. Incorporating EFW enhanced the sensitivity for the detection of both conditions.


Asunto(s)
Peso al Nacer , Desarrollo Fetal , Recién Nacido Pequeño para la Edad Gestacional , Ultrasonografía Prenatal , Algoritmos , Antropometría , Femenino , Predicción , Humanos , Recién Nacido , Paridad , Embarazo , Tercer Trimestre del Embarazo
12.
Fetal Diagn Ther ; 38(3): 200-4, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26367859

RESUMEN

OBJECTIVE: To examine the value of the cervical length (CL) measurement at 24-30 gestational weeks in the prediction of spontaneous preterm delivery (SPD) between 30 and 34 weeks (SPD34) and between 34 and 37 weeks (SPD37). METHODS: We performed a prospective cross-sectional study. CL was measured once by transvaginal ultrasound examination between 24 and 30 weeks. RESULTS: The study sample consisted of 1,180 low-risk singleton pregnancies. 10 women (0.85%) had a SPD34 and 60 (5.08%) had a SPD37. CL was shorter (p < 0.001) in the women who had a SPD34 (median 11 mm) compared to the women who delivered after 34 weeks (median 31 mm). CL was shorter (p < 0.001) in the women who had a SPD37 (median 22 mm) compared to the women who delivered after 37 weeks (median 31 mm). CL predicted SPD34 (OR = 0.837, R² = 0.2768, AUC = 0.9406, p < 0.001) and SPD37 (OR = 0.907, R² = 0.1085, AUC = 0.7584, p < 0.001). The model achieved a sensitivity of 70.0 and 38.3% for 10% false-positive rate for SPD34 and SPD37, respectively. CONCLUSIONS: CL after 24 weeks is significantly shorter in women destined to have a SPD. In low-risk singleton pregnancies CL performs very well in predicting SPD34 and adequately in predicting SPD37.


Asunto(s)
Medición de Longitud Cervical/métodos , Cuello del Útero/diagnóstico por imagen , Trabajo de Parto Prematuro/diagnóstico por imagen , Nacimiento Prematuro/diagnóstico por imagen , Adulto , Estudios Transversales , Femenino , Humanos , Recién Nacido , Valor Predictivo de las Pruebas , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Estudios Prospectivos
13.
Birth Defects Res A Clin Mol Teratol ; 100(4): 284-93, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24677675

RESUMEN

BACKGROUND: Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11-qter) or large (q21-qter) duplications with pre- or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype. CASE REPORT: We report on a female fetus with sole partial trisomy 1q presenting with multiple structural malformations in the second trimester scan. Standard karyotyping demonstrated a large duplication on the proximal end of chromosome 1 [46,XX,dup(1)(pter→q31::q31→q12::q31→qter)] and further application of comparative genomic hybridization array confirmed the diagnosis and offered a precise characterization of the genetic defect. CONCLUSION: A fetus with nonmosaic partial trisomy 1q that was prenatally diagnosed upon multiple abnormal ultrasound findings is presented. A detailed review of the currently available literature on the prenatal diagnostic approach of partial trisomy 1q in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. The use of novel molecular techniques such comparative genomic hybridization array could shed further light on the correlation between the genes identified in the chromosomal region of interest and the resultant phenotype.


Asunto(s)
Anomalías Múltiples , Cromosomas Humanos Par 1/genética , Hibridación Genómica Comparativa , Diagnóstico Prenatal/métodos , Trisomía , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Adulto , Femenino , Feto/patología , Humanos , Embarazo , Ultrasonografía
14.
Prenat Diagn ; 34(8): 726-33, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24550181

RESUMEN

BACKGROUND: The aim of this study was to determine maternal serum concentrations of neutrophil gelatinase-associated lipocalin (NGAL), matrix metalloproteinase-9 (MMP-9), and MMP-9/NGAL complex longitudinally in pregnancy, in normal pregnancies, in pregnancies that developed preeclampsia and in pregnancies that delivered a small for gestational age infant (SGA). METHODS: Neutrophil gelatinase-associated lipocalin, MMP-9, and MMP-9/NGAL were determined in the first, second, and third trimesters in 33 normal pregnancies, 12 pregnancies complicated by preeclampsia, and 14 pregnancies that delivered a SGA neonate. RESULTS: Median NGAL concentration (ng/mL) in normal pregnancies increased significantly from 12.8 in the first trimester to 25.9 in the second trimester (p = 0,002) and 48.0 (p < 0.0001) in the third trimester. In preeclamptic pregnancies, NGAL was significantly higher, compared with normal pregnancies, in the first (30.9; p = 0.006) and second (44.6; p = 0.015) trimesters. MMP-9 and MMP-9/NGAL complex concentrations in preeclamptic pregnancies did not differ significantly from normal pregnancies in either trimester. Pregnancies with an SGA infant did not have different marker concentrations in either trimester, compared with normal pregnancies. CONCLUSION: Maternal serum NGAL, MMP-9, and MMP-9/NGAL complex concentrations tend to increase during pregnancy in normal and preeclamptic pregnancies. NGAL was significantly elevated in the first and second trimesters, in pregnancies that later developed preeclampsia.


Asunto(s)
Lipocalinas/sangre , Metaloproteinasa 9 de la Matriz/sangre , Preeclampsia/sangre , Proteínas Proto-Oncogénicas/sangre , Proteínas de Fase Aguda , Adulto , Femenino , Humanos , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Lipocalina 2 , Estudios Longitudinales , Embarazo
15.
Genes (Basel) ; 15(1)2024 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-38254965

RESUMEN

The aim of this review was to examine the current literature regarding the effect of maternal lifestyle interventions (i.e., diet and physical activity) on the epigenome of the offspring. PubMed, Scopus and Cochrane-CENTRAL were screened until 8 July 2023. Only randomized controlled trials (RCTs) where a lifestyle intervention was compared to no intervention (standard care) were included. Outcome variables included DNA methylation, miRNA expression, and histone modifications. A qualitative approach was used for the consideration of the studies' results. Seven studies and 1765 mother-child pairs were assessed. The most common types of intervention were dietary advice, physical activity, and following a specific diet (olive oil). The included studies correlated the lifestyle and physical activity intervention in pregnancy to genome-wide or gene-specific differential methylation and miRNA expression in the cord blood or the placenta. An intervention of diet and physical activity in pregnancy was found to be associated with slight changes in the epigenome (DNA methylation and miRNA expression) in fetal tissues. The regions involved were related to adiposity, metabolic processes, type 2 diabetes, birth weight, or growth. However, not all studies showed significant differences in DNA methylation. Further studies with similar parameters are needed to have robust and comparable results and determine the biological role of such modifications.


Asunto(s)
Epigenoma , MicroARNs , Femenino , Embarazo , Humanos , Dieta , MicroARNs/genética , Obesidad , Ejercicio Físico
16.
J Clin Med ; 13(8)2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38673673

RESUMEN

Visceral leishmaniasis (VL), often referred to as kala-azar, is quite rare in developed countries during pregnancy. Only few studies have evaluated its impact on perinatal outcome. It is caused primarily by Leishmania donovani or Leishmania infantum and presents with a wide spectrum of clinical manifestations from cutaneous ulcers to multisystem disease. Differential diagnosis is challenging as symptoms and signs are insidious, mimicking other diseases. Misdiagnosis can result in severe adverse perinatal outcomes, even maternal/neonatal death. Early treatment with liposomal amphotericin-B (LAmB) is currently the first choice with adequate effectiveness. We report a rare case of VL in a twin pregnancy with onset at the second trimester, presenting with periodic fever with rigors, right flank pain, and gradual dysregulation of all three cell lines. The positive rK39 enzyme-linked immunosorbent assay test confirmed the diagnosis. Treatment with LAmB resulted in clinical improvement within 48 h and in the delivery of two late-preterm healthy neonates with no symptoms or signs of vertical transmission. The one-year follow-up, of the mother and the neonates, was negative for recurrence. To our knowledge, this is the first reported case of VL in a twin pregnancy, and consequently treatment and perinatal outcome are of great importance.

17.
Cureus ; 16(3): e56787, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38650784

RESUMEN

INTRODUCTION: Breaking bad news is one of the most difficult responsibilities in medical practice. Although medical staff in clinical practice often encounter situations that necessitate the announcement of unpleasant news, there is a lack of training regarding their communication with patients and their families. Effective interaction between medical staff and pregnant women constitutes a crucial component of breaking down unpleasant news. This research aimed to investigate the knowledge and attitude of health professionals, particularly obstetricians, and midwives, regarding the announcement of bad news during prenatal screening. METHODS: The study was conducted between September 2017 and April 2018. One hundred professional obstetricians and midwives involved in fetal and prenatal medicine in Greece were part of the study. The study consisted of two parts: the first covered the emotional state of healthcare professionals during the announcement of unpleasant news, and the second covered the appropriate way to inform unpleasant results during prenatal testing. RESULTS: In this study, only 41% of the participants considered that they felt comfortable discussing issues related to the diagnosis of an unpleasant result during prenatal testing with the pregnant woman/patient, or her relatives, and 85% accepted that they had experienced feelings of sadness, anxiety, or guilt when announcing unpleasant results. Furthermore, 87% of the participants believed that the non-verbal communication component (eye contact, body language) plays an important role in breaking bad news. Finally, 65% considered that prolonged monitoring of the ultrasound screen during prenatal screening does not increase the anxiety of pregnant women when carried out for a better medical opinion. CONCLUSIONS: Delivering bad news during prenatal screening creates stress for the parents. As far as the ethical, cultural, psychological, and legal complicity of healthcare professionals is concerned, communicating unpleasant news has been a subject of discussion by many experts. It is important to understand the concerns of women regarding the risks of counseling.

18.
Diagnostics (Basel) ; 14(9)2024 Apr 29.
Artículo en Inglés | MEDLINE | ID: mdl-38732341

RESUMEN

Placenta accreta spectrum (PAS) disorder is one of the leading causes of peripartum maternal morbidity and mortality; its early identification during pregnancy is of utmost importance to ensure the optimal clinical outcome. The aim of the present study is to investigate the possible association of the presence and type/location of placenta previa on MRI with PAS and maternal peripartum outcome. One hundred eighty-nine pregnant women (mean age: 35 years; mean gestational age: 32 weeks) at high risk for PAS underwent a dedicated placental MRI. All women underwent a C-section within 6 weeks from the MRI. All MRIs were evaluated by two experienced genitourinary radiologists for presence, type (complete/partial vs. marginal/low lying), and location (anterior vs. anterior-posterior vs. posterior) of placenta previa. Statistical analysis was performed for possible association of type/location of previa with placental invasiveness and peripartum outcomes. Intraoperative information was used as a reference standard. Complete/partial previa was detected in 143/189 (75.6%) and marginal/low lying previa in 33/189 (17.5%) women; in 88/189 (46.6%) women, the placenta had anterior-posterior, in 54/189 (28.6%) anterior and in 41/189 (21.7%) posterior. Complete/partial previa had an at least 3-fold probability of invasiveness and was more frequently associated with unfavorable peripartum events, including massive intraoperative blood loss or hysterectomy, compared to low-lying/marginal placenta. Posterior placental location was significantly associated with lower rates of PAS and better clinical outcomes. In conclusion, the type and location of placenta previa shown with MRI seems to be associated with severity of complications during delivery and should be carefully studied.

20.
Children (Basel) ; 10(5)2023 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-37238374

RESUMEN

Preeclampsia is a multisystemic clinical syndrome characterized by the appearance of new-onset hypertension and proteinuria or hypertension and end organ dysfunction even without proteinuria after 20 weeks of pregnancy or postpartum. Residing at the severe end of the spectrum of the hypertensive disorders of pregnancy, preeclampsia occurs in 3 to 8% of pregnancies worldwide and is a major cause of maternal and perinatal morbidity and mortality, accounting for 8-10% of all preterm births. The mechanism whereby preeclampsia increases the risk of the neurodevelopmental, cardiovascular, and metabolic morbidity of the mother's offspring is not well known, but it is possible that the preeclamptic environment induces epigenetic changes that adversely affect developmental plasticity. These developmental changes are crucial for optimal fetal growth and survival but may lead to an increased risk of chronic morbidity in childhood and even later in life. The aim of this review is to summarize both the short- and long-term effects of preeclampsia on offspring based on the current literature.

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