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1.
Int J Womens Health ; 16: 1041-1047, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38855357

RESUMEN

Placental development is a complex process which sets the stage for normal fetal development. Any variation/disruption occurring during the initial stages of placental formation leads to placental malfunction causing increased maternal-fetal morbidity and mortality. The succenturiate lobe is a structural variation of the placenta that usually appears as a distinct lobe from the main placental mass. Succenturiate lobe is a rare placental anomaly, with high risk of fetal distress, hemorrhage, abruptio placentae and even fetal death because the vessels of this succenturiate lobe are vulnerable to both compression and laceration. Prenatal imaging diagnosis of this pathology improves the fetal prognosis through more careful surveillance and, in case of complications such as abruptio placentae, by shortening the time-to-decision making in favor of cesarean delivery. We present the case of a 27-year-old patient, without risk factors for placental abnormalities, diagnosed antenatally with succenturiate placenta, who presented at 34 weeks of pregnancy for abruptio placentae.

2.
Diagnostics (Basel) ; 14(5)2024 Mar 02.
Artículo en Inglés | MEDLINE | ID: mdl-38473005

RESUMEN

Accurate diagnosis of Müllerian duct anomalies (MDA) remains a clinical challenge even by direct surgical inspection. Although obstetrical complications are more frequent in women with MDA, some subtypes allow normal reproduction, further delaying the diagnosis. Unicornuate uterus with a rudimentary non-communicating functioning horn is a rare form of MDA, susceptible to many gynecologic and obstetric complications such as miscarriages, premature birth, hematosalpinx, endometriosis, and chronic pelvic pain. We present an entire case pictorial assay including preoperative imaging as well as the surgical correction of the uterine anomaly and the associated complication of an occult unicornuate right uterus with rudimentary non-communicating functioning left horn (Class U4aC0V0/ European Society of Human Reproduction and Embryology/European Society of Gastrointestinal Endoscopy Classification) and its natural evolution following a previous incomplete surgical treatment. The patient had an emergency left adnexectomy for hematosalpinx and ovarian endometrioma at her local county hospital. After five years, the patient presented with severe dysmenorrhea and abdominal endometriosis due to blocked retrograde menstruation from a rudimentary, non-communicating functioning horn. Surgical treatment with the resection of the rudimentary uterine horn, together with the abdominal wall endometriosis lesions, was carried out with good outcomes.

3.
Res Pract Thromb Haemost ; 8(1): 102339, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38426027

RESUMEN

Background: Early reports have demonstrated an association of COVID-19 infection during pregnancy and postpartum period with coagulopathy and bleeding complications and indicated that pregnant people with COVID-19 are more likely to experience coagulopathy and venous thromboembolism. A recent report concerning such complications during the first wave of the pandemic was reassuring; however, no publications have evaluated these issues in the context of increased illness severity with the emergence of SARS-CoV-2 variants of concern. Objectives: We performed a retrospective, multinational cohort study in Canada, Romania, and the United Kingdom, aiming to provide a comprehensive analysis of the hematologic test characteristics of pregnancies affected by COVID-19 after the first wave of the pandemic. Results: Three-hundred-seventy patients were evaluated. Markers of inflammation and endothelial dysfunction were significantly elevated, in keeping with observations in the nonpregnant population. Reassuringly, despite more severe disease noted in succeeding waves of the pandemic, there was no significant evidence of COVID-19-associated coagulopathy, and overall, no association was demonstrated between isolated coagulation abnormalities and bleeding risk. Notably, fibrinogen below 2g/L was again linked with the risk of postpartum hemorrhage. Finally, venous thromboembolism risk was low but noted more frequently in those with severe illness despite thromboprophylaxis. Conclusion: Our findings add valuable insights into the nature of hematologic test characteristics, bleeding, and thrombotic complications for those affected with COVID-19 in pregnancy, reassuring readers of the low incidence of bleeding and thrombotic complications but inviting further debate as to the degree of thromboprophylaxis that may benefit the subgroup with severe disease.

4.
Diagnostics (Basel) ; 13(19)2023 Sep 25.
Artículo en Inglés | MEDLINE | ID: mdl-37835791

RESUMEN

A growing body of evidence suggests that endometrial immune disorders may be responsible for endometrial dysfunctions that can lead to gynecological and obstetrical pathology. The aim of this study was to explore the potential relationship between different killer cell immunoglobulin-like receptor (KIR) genotypes and reproductive outcomes. We conducted a prospective cohort study that included 104 infertile patients undergoing an in vitro fertilization procedure. All participants underwent clinical and ultrasound examination, genetic evaluation (KIR genotyping), endometrial washing fluid sampling for cytokine determination, endometrial tissue sampling for histologic assessment and hysteroscopic evaluation. Our analysis showed statistically significant lower levels of uterine cytokines TNF-α (p = 0.001) and IL-1beta (p = 0.000) in the KIR AA genotype group as compared to KIR AB and BB among study participants with chronic endometritis. The study results suggest that the KIR AA genotype population subgroups may be more susceptible to developing endometrial disorders such as chronic endometritis. The changes in the behavior of NK cells seem to be subtle and expressed as an altered regulatory pattern.

5.
Diagnostics (Basel) ; 13(6)2023 Mar 22.
Artículo en Inglés | MEDLINE | ID: mdl-36980508

RESUMEN

Introduction: This research aims to describe a progressive pattern of ultrasound placental remodeling in patients with a history of SARS-CoV-2 infection during pregnancy. Materials and Methods: This was a longitudinal, cohort study which enrolled 23 pregnant women with a history of former mild SARS-CoV-2 infection during the current pregnancy. Four obstetricians analyzed placental ultrasound images from different gestational ages following COVID infection and identified the presence and degree of remodeling. We assessed the inter-rater agreement and the interclass correlation coefficients. Pathology workup included placental biometry, macroscopic and microscopic examination. Results: Serial ultrasound evaluation of the placental morphology revealed a progressive pattern of placental remodeling starting from 30-32 weeks of gestation towards term, occurring approximately 8-10 weeks after the SARS-CoV-2 infection. Placental changes-the "starry sky" appearance and the "white line" along the basal plate-were identified in all cases. Most placentas presented normal subchorionic perivillous fibrin depositions and focal stem villi perivillous fibrin deposits. Focal calcifications were described in only 13% of the cases. Conclusions: We identified two ultrasound signs of placental remodeling as potential markers of placental viral shedding following mild SARS-CoV-2. The most likely pathology correspondence for the imaging aspect is perivillous and, respectively, massive subchorionic fibrin deposits identified in most cases.

6.
Cancers (Basel) ; 15(6)2023 Mar 22.
Artículo en Inglés | MEDLINE | ID: mdl-36980780

RESUMEN

(1) Background: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing (NGS) is becoming a standard in medical care. There are insufficient genetic studies reported on breast cancer (BC) patients from Romania and most of them are focused only on BRCA 1/2 genes (Breast cancer 1/2). (2) Methods: NGS was performed in 255 consecutive cases of BC referred for management in our clinic between 2015-2019. (3) Results: From the 171 mutations identified, 85 were in the high-penetrance BC susceptibility genes category, 72 were pathogenic genes, and 13 genes were in the (variants of uncertain significance) VUS genes category. Almost half of the mutations were in the BRCA 1 gene. The most frequent BRCA1 variant was c.3607C>T (14 cases), followed by c.5266dupC (11 cases). Regarding BRCA-2 mutations we identified c.9371A>T (nine cases), followed by c.8755-1G>A in three cases, and we diagnosed VUS mutations in three cases. We also identified six pathogenic variants in the PALB2 gene and two pathogenic variants in (tumor protein P 53) TP53. (4) Conclusions: The majority of pathogenic mutations in the Romanian population with BC were in the BRCA 1/ 2 genes, followed by PALB2 (partner and localizer of BRCA2) and TP53, while in the CDH1 (cadherin 1) and STK11 (Serine/Threonine-Protein Kinase) genes we only identified VUS mutations.

7.
Diagnostics (Basel) ; 12(10)2022 Sep 29.
Artículo en Inglés | MEDLINE | ID: mdl-36292058

RESUMEN

"Poor responders" (PR) are an important category of infertile women who experience a modest response to controlled ovarian stimulation. In this study, we evaluated response to growth hormone (GH) administration among PR patient subtypes stratified by follicle stimulation hormone receptor (FSHR) polymorphism (c.2039A > G p.Asn680Ser). We conducted a cohort study of 125 women with poor ovarian response, 58 of whom received GH in addition to the standard treatment, and 67 of whom received the standard treatment only. The Ala307Thr polymorphism genotypes were analyzed using a polymerase chain reaction-restriction fragment length polymorphism method, and the FSHR gene polymorphism was analyzed using a predesigned TaqMan SNP Genotyping Assay (rs6166). A comparative analysis detected statistically significant differences in mean mature follicles (p = 0.0002), metaphase-II oocytes (p = 0.0005), progesterone levels (p = 0.0036), and IGF levels (follicle IGF1, p = 0.0004) between GH-treated and non-GH-treated participants with the FSHR (Ser/Ser) polymorphism. However, the differences were modest among participants with the other two FSHR polymorphisms (Ser/Asn and Asn/Asn). The subcategory of patients with the FSHR Asn680Ser (Ser/Ser) polymorphism showed a stronger response when GH was added to the IVF protocol.

8.
Medicina (Kaunas) ; 58(9)2022 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-36143839

RESUMEN

Backgroundand Objectives: Gestational diabetes mellitus (GDM) is a pregnancy-associated pathology commonly resulting in macrosomic fetuses, a known culprit of obstetric complications. We aimed to evaluate the potential of umbilical cord biometry and fetal abdominal skinfold assessment as screening tools for fetal macrosomia in gestational diabetes mellitus pregnant women. Materials and methods: This was a prospective case−control study conducted on pregnant patients presenting at 24−28 weeks of gestation in a tertiary-level maternity hospital in Northern Romania. Fetal biometry, fetal weight estimation, umbilical cord area and circumference, areas of the umbilical vein and arteries, Wharton jelly (WJ) area and abdominal fold thickness measurements were performed. Results: A total of 51 patients were enrolled in the study, 26 patients in the GDM group and 25 patients in the non-GDM group. There was no evidence in favor of umbilical cord area and WJ amount assessments as predictors of fetal macrosomia (p > 0.05). However, there was a statistically significant difference in the abdominal skinfold measurement during the second trimester between macrosomic and normal-weight newborns in the GDM patient group (p = 0.016). The second-trimester abdominal circumference was statistically significantly correlated with fetal macrosomia at term in the GDM patient group with a p value of 0.003, as well as when considering the global prevalence of macrosomia in the studied populations, 0.001, when considering both populations. Conclusions: The measurements of cord and WJ could not be established as predictors of fetal macrosomia in our study populations, nor differentiate between pregnancies with and without GDM. Abdominal skinfold measurement and abdominal circumference measured during the second trimester may be important markers of fetal metabolic status in pregnancies complicated by GDM.


Asunto(s)
Diabetes Gestacional , Macrosomía Fetal , Biomarcadores , Biometría , Estudios de Casos y Controles , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/epidemiología , Femenino , Macrosomía Fetal/diagnóstico , Macrosomía Fetal/epidemiología , Macrosomía Fetal/patología , Humanos , Recién Nacido , Embarazo , Rumanía , Cordón Umbilical/patología
9.
J Matern Fetal Neonatal Med ; 35(25): 7290-7295, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34470118

RESUMEN

Krukenberg's tumor diagnosed in pregnancy is an uncommon situation that raises both diagnosis and medical management issues. We performed a review of the existing literature regarding this pathology, diagnostic means and therapeutic approaches, motivated by a case in our own practice. A 35-year-old primigravida was diagnosed with an adnexal mass during the first trimester prenatal ultrasound. Ultrasound revealed a 10 cm right adnexal mass with multiple septae, richly vascularized, whose presence and characteristics were confirmed by magnetic resonance imaging. Due to the progressively increasing tumor size, laparoscopy was performed with right adnexectomy and peritoneal biopsies. Histopathology diagnosed a metastatic ovarian tumor from a mucinous colorectal adenocarcinoma. After delivery the patient was further investigated and diagnosed with sigmoid cancer. Even though ovarian cancer in pregnancy is rare, adnexal ultrasound is mandatory when scanning during the first trimester to rule out the presence of associated fallopian or ovarian masses.


Asunto(s)
Enfermedades de los Anexos , Tumor de Krukenberg , Neoplasias Ováricas , Embarazo , Femenino , Humanos , Adulto , Tumor de Krukenberg/diagnóstico por imagen , Tumor de Krukenberg/cirugía , Enfermedades de los Anexos/diagnóstico , Enfermedades de los Anexos/patología , Neoplasias Ováricas/diagnóstico por imagen , Neoplasias Ováricas/cirugía , Primer Trimestre del Embarazo , Imagen por Resonancia Magnética
10.
J Perinat Med ; 49(7): 837-846, 2021 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-33882202

RESUMEN

Brain injury of the surviving twin from monochorionic pregnancies following intrauterine fetal demise during the second and third trimesters is a rare but severe complication. Monochorionicity and gestational age at the time of stillbirth seem to be decisive factors in terms of long-term neurologic outcome prediction for the survivor. Magnetic resonance imaging (MRI), diffusion weighted imaging (DWI) in particular, seem to bring the earliest and most accurate diagnosis. Ultrasound detection of brain damage is possible in later stages of fetal brain injury. It is essential to provide early diagnosis and multidisciplinary counsel to the parents to ensure informed decision making. For couples who choose to terminate pregnancy legislation related to late abortion might lead to further distress. Our paper aims to stress the importance of MRI DWI in the evaluation of surviving twins following single intrauterine fetal demise in monochorionic pregnancies and the delicate context of the medical professionals and parents facing this clinical situation, sometimes complicated by legal constraints.


Asunto(s)
Aborto Eugénico/legislación & jurisprudencia , Lesiones Encefálicas/diagnóstico por imagen , Enfermedades en Gemelos/diagnóstico por imagen , Muerte Fetal , Diagnóstico Prenatal/métodos , Gemelos Monocigóticos , Aborto Eugénico/ética , Aborto Eugénico/psicología , Toma de Decisiones , Imagen de Difusión por Resonancia Magnética , Femenino , Salud Global , Humanos , Padres/psicología , Embarazo , Embarazo Gemelar , Ultrasonografía Prenatal
11.
Arq Bras Oftalmol ; 83(4): 332-334, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32756791

RESUMEN

Dacryocystocele is a rare benign facial abnormality of the nasolacrimal system, which may be detected at the antenatal workup during the third trimester of pregnancy. Ultrasound is the method of choice for this examination. However, magnetic resonance imaging may also be used in selected cases. Dacryocystocele is mostly a transient finding; it may resolve spontaneously in utero or postnatally. When the defect is bilateral and persists in neonatal life, it may lead to respiratory complications. We report a case of a fetus with bilateral dacryocystocele diagnosed by prenatal ultrasound at the beginning of the third trimester of pregnancy with spontaneous postpartum resorption.


Asunto(s)
Obstrucción del Conducto Lagrimal , Quistes , Femenino , Humanos , Obstrucción del Conducto Lagrimal/diagnóstico por imagen , Imagen por Resonancia Magnética , Conducto Nasolagrimal/diagnóstico por imagen , Embarazo , Ultrasonografía Prenatal
12.
Arq. bras. oftalmol ; 83(4): 332-334, July-Aug. 2020. graf
Artículo en Inglés | LILACS | ID: biblio-1131613

RESUMEN

ABSTRACT Dacryocystocele is a rare benign facial abnormality of the nasolacrimal system, which may be detected at the antenatal workup during the third trimester of pregnancy. Ultrasound is the method of choice for this examination. However, magnetic resonance imaging may also be used in selected cases. Dacryocystocele is mostly a transient finding; it may resolve spontaneously in utero or postnatally. When the defect is bilateral and persists in neonatal life, it may lead to respiratory complications. We report a case of a fetus with bilateral dacryocystocele diagnosed by prenatal ultrasound at the beginning of the third trimester of pregnancy with spontaneous postpartum resorption.


RESUMO A dacriocistocele é uma anormalidade facial benigna rara do sistema nasolacrimal, que pode ser detectada na rotina pré-natal durante o terceiro trimestre da gravidez. O ultrassom é o método de escolha, mas a ressonância magnética também pode ser usada em casos específicos. Na maioria das vezes, a dacriocistocele é um achado temporário, que pode se resolver espontâneamente ainda no útero ou após o nascimento. Quando a anormalidade é bilateral e persiste na vida neonatal, pode levar a complicações respiratórias. Este é o relato do caso de um feto com dacriocistocele bilateral diagnosticada por ultrassom pré-natal no início do terceiro trimestre da gravidez, com reabsorção espontânea após o nascimento.


Asunto(s)
Humanos , Femenino , Quistes , Obstrucción del Conducto Lagrimal , Embarazo , Imagen por Resonancia Magnética , Ultrasonografía Prenatal , Obstrucción del Conducto Lagrimal/diagnóstico por imagen , Conducto Nasolagrimal/diagnóstico por imagen
13.
Lipids Health Dis ; 19(1): 2, 2020 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-31901241

RESUMEN

Acute pancreatitis is a pregnancy complication potentially lethal for both the mother and fetus, occurring most frequently in the third trimester or early postpartum. Hypertriglyceridemia may be the cause of important disease in pregnant patients. Patients with triglyceride levels exceeding 1000 mg/dL are at increased risk of developing severe pancreatitis. Diagnostic criteria and management protocols are not specific for pancreatitis complicating pregnancy. Other causes of acute abdominal pain must be considered in the differential diagnosis. Decision-making in the obstetric context is challenging and bears potential legal implications. Pre-pregnancy preventive measures and prenatal antilipemic treatment are mandatory in high risk patients.


Asunto(s)
Enfermedad Aguda/terapia , Hipertrigliceridemia/tratamiento farmacológico , Pancreatitis/tratamiento farmacológico , Complicaciones del Embarazo/tratamiento farmacológico , Enfermedad Aguda/epidemiología , Cuidados Posteriores , Femenino , Humanos , Hipertrigliceridemia/complicaciones , Hipertrigliceridemia/diagnóstico , Hipertrigliceridemia/fisiopatología , Hipolipemiantes/uso terapéutico , Pancreatitis/diagnóstico , Pancreatitis/etiología , Pancreatitis/fisiopatología , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/fisiopatología , Triglicéridos/sangre
14.
Med Ultrason ; 21(3): 336-343, 2019 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-31476214

RESUMEN

Breast cancer diagnosed during pregnancy is at increasing incidence due to the increased frequency of obesity, the postponement of the first pregnancy to later decades of life and the advances of diagnostic techniques. Clinical and imaging diagnosis is difficult during gestation due to adaptive changes of the maternal organism , the mammary glads in particular. Furthermore, the therapeutic approach is limited both by the possible side effects on the fetus and by the skepticism of the couple over these therapeutic regimens.The present paper aims to review the main diagnostic steps to confirm pregnancy associated breast cancer, as well as the therapeutic possibilities during this period, related to the potential adverse effects concerning pregnancy.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Complicaciones Neoplásicas del Embarazo/diagnóstico por imagen , Biopsia , Mama/diagnóstico por imagen , Mama/patología , Neoplasias de la Mama/patología , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Mamografía/métodos , Embarazo , Complicaciones Neoplásicas del Embarazo/patología , Ultrasonografía Mamaria/métodos
15.
Pregnancy Hypertens ; 18: 1-8, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31442828

RESUMEN

BACKGROUND: Changes in the renin-angiotensin-aldosterone system's (RAAS) activity due to different genetic variations could represent risk factors for the onset of preeclampsia. OBJECTIVE: To test and quantify the relationships of 8 RAAS gene polymorphisms (angiotensinogen (AGT)-M235T, AGT-T174M, angiotensin converting enzyme (ACE)-I/D, ACE8-A2350G, angiotensin II type 1 receptor (AGTR1)-A1166C, angiotensin II type 2 receptor (AGTR2)-C3123A, renin (REN)-G83A, aldosterone synthase (CYP11B2)-T344C) with susceptibility to early- (EOPE) and late-onset preeclampsia (LOPE). STUDY DESIGN: We performed polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis in 217 pregnant women, of whom 87 pregnant women with EOPE/LOPE and 130 normal pregnant women. The relationship between the studied RASS gene polymorphisms and EOPE/LOPE was tested by multiple logistic regressions. RESULTS: The multivariate logistic regression analysis showed that AGT-M235T (adjusted OR = 4.63), AGT-T174M (adjusted OR = 4.13), REN-G83A (adjusted OR = 3) and CYP11B2-C344T (adjusted OR = 3.13) gene polymorphisms remained independent risk factors for EOPE. Moreover, ACE-I/D (adjusted OR = 4.04), ACE-A2350G (adjusted OR = 3.5), AGTR1-A1166C (adjusted OR = 2.73), and REN-G83A (adjusted OR = 2.67) polymorphisms remained independent risk factors for LOPE. The frequency of overweight was significantly different (p = 0.001) in pregnant women with EOPE, LOPE and the control group (LOPE:16, 29.6% vs. EOPE:12, 36.4% vs. control group:16, 12.3%). Pregnant women with EOPE had babies with a significantly lower mean birth weight (2067.9 ±â€¯887.9) in comparison to women with LOPE (mean ±â€¯SD: 2860.1 ±â€¯771.1, p < 0.001) and women with normal pregnancies, respectively (mean ±â€¯SD: 3324.9 ±â€¯484.9, p < 0.001). CONCLUSION: We confirmed the influence of the renin-angiotensin-aldosterone system through these 8 genetic variations on the onset of preeclampsia.


Asunto(s)
Angiotensinógeno/genética , Predisposición Genética a la Enfermedad , Placenta/metabolismo , Preeclampsia/genética , Atención Prenatal , Sistema Renina-Angiotensina/genética , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , Embarazo , Factores de Riesgo , Rumanía , Población Blanca
16.
J BUON ; 24(3): 1067-1074, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31424662

RESUMEN

PURPOSE: To assess the influence of reproductive factors in the occurrence of breast cancer in women, taking into account the presence/absence of genetic predisposing mutations. METHODS: 100 patients with breast cancer were included. The genetic testing was conducted through a multigene panel. Reproductive characteristics were noted for all patients: age of menarche, age of the patient at first full term pregnancy, number of pregnancies, number of full-term pregnancies, breastfeeding interval, number of abortions, and menopausal status at the time of diagnosis. The patients were divided into three groups according to their mutations: BRCA1, positive for mutations other than BRCA1 and negative. RESULTS: The risk of breast cancer was not influenced by the number of abortions, parity, age at first pregnancy, age at menarche and menopausal status, or by oral contraceptive use in carriers of pathogenic mutations group in the BRCA1 group. The present study has demonstrated the protective effect of breastfeeding only in patients without genetic risk (p=0.0344). In contrast, breastfeeding did not influence breast cancer occurrence in BRCA1 mutation carriers' group (p=0.2321). CONCLUSIONS: Breastfeeding represents a protective mechanism only in patients without genetic breast cancer predisposing mutations. Environmental and reproductive factors can impact the risk and the age of onset of breast cancer in patients carrying pathogenic mutations, but the mechanisms of action are not fully understood.


Asunto(s)
Neoplasias de la Mama/genética , Predisposición Genética a la Enfermedad/genética , Neoplasias de la Mama/patología , Femenino , Humanos , Mutación , Factores de Riesgo
17.
Med Ultrason ; 20(2): 221-227, 2018 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-29730690

RESUMEN

Open spina bifida, also known as spina bifida aperta is a neural tube defect involving the lack of closure of vertebral arches and associated meninges and/or spinal cord abnormalities.Ultrasound examination is the gold standard for the diagnosis of spina bifida aperta. It represents the main imaging tool used to ascertain this diagnosis early in gestation. Three-dimensional ultrasound is necessary to detect the level and the size of the defect. Magnetic resonance imaging (MRI) represents a more sensitive tool, giving specific information of the defect and associated anomalies, playing an important role in ruling out differential diagnosis. Due to the advent of MRI use, it is possible today to achieve in utero treatment of fetuses with this pathology. The aim of the current review is to provide an update of literature regarding the role of ultrasound and MRI in the prenatal diagnosis of spina bifida aperta.


Asunto(s)
Imagen por Resonancia Magnética/métodos , Diagnóstico Prenatal/métodos , Espina Bífida Quística/diagnóstico por imagen , Ultrasonografía/métodos , Femenino , Humanos , Embarazo , Columna Vertebral/diagnóstico por imagen , Ultrasonografía Prenatal
18.
Med Ultrason ; 1(1): 88-94, 2018 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-29400374

RESUMEN

The introduction of four-dimensional (4D) ultrasonography (US) allows the study of fetal movements and facial expressions in real time. The possibility of evaluating fetal movements has led to the study of fetal neurobehaviour, which has been for a long period of time a mystery for physicians. The study of fetal activity in utero could differentiate between normal and abnormal behavioural patterns, thus making possible the early recognition of fetal brain impairment. Facial expressions observed with 4D US represent a marker for neurobehaviour and at the same time could enhance fetal-maternal bonding. The present review represents an update of the literature on fetal movements, facial expressions, and their relationship with fetal neurobehaviour.


Asunto(s)
Encéfalo/embriología , Encéfalo/fisiología , Expresión Facial , Movimiento Fetal/fisiología , Imagenología Tridimensional/métodos , Ultrasonografía Prenatal/métodos , Femenino , Desarrollo Fetal/fisiología , Humanos , Embarazo
19.
J Matern Fetal Neonatal Med ; 31(13): 1681-1688, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28486825

RESUMEN

OBJECTIVES: To analyze the contribution of maternal eNOS-Glu298Asp genotypes and also the association with fetal genotypes to the development of preeclampsia, prognosis, and maternal dyslipidemia. METHODS: Sixty-nine pairs of preeclamptic mothers/newborns and 94 pairs of normotensive mothers/newborns were genotyped for eNOS-Glu298Asp using PCR-RFLP methods. RESULTS: Women carriers of at least one Asp298 allele had a 1.53-fold (p = NS), 1.88-fold (p = NS), and 2.08-fold (p = .05), respectively, increased risk to develop PIH, mild, or severe preeclampsia. If both the mother and the newborn were carriers of the Asp298 allele, the risk for preeclampsia was 5.09-fold higher (p < .001). Preeclamptic women with severe preeclampsia had significantly higher cholesterol (mg/dl, 287.23 ± 43.01 versus 235.36 ± 45.01, p = .02) and LDL (mg/dl, 194.9 ± 42.8 versus 144.98 ± 54.84, p = .04) levels and lower HDL levels (mg/dl, 32.12 ± 5.48 versus 57.84 ± 20.59, p = .02) compared to noncarriers. Also, higher LDL levels (mg/dl, 188.76 ± 46.61 versus 136.75 ± 41.85, p = .03) and lower HDL levels (mg/dl, 32.8 ± 5.64 versus 61.06 ± 22.45, p = .02) were found in preeclamptic women with severe preeclampsia whose newborns were carriers of the Asp298 allele. CONCLUSIONS: The eNOS-Glu298Asp variant (in mothers and newborns) in association with dyslipidemia could affect bioavailability of NO and could represent an increased risk for preeclampsia.


Asunto(s)
Genotipo , Óxido Nítrico Sintasa de Tipo III/genética , Preeclampsia/genética , Adulto , Estudios de Casos y Controles , HDL-Colesterol/sangre , Estudios de Cohortes , Dislipidemias/etiología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Óxido Nítrico Sintasa de Tipo III/sangre , Preeclampsia/sangre , Preeclampsia/clasificación , Preeclampsia/fisiopatología , Embarazo , Reacción en Cadena en Tiempo Real de la Polimerasa , Índice de Severidad de la Enfermedad , Adulto Joven
20.
Gynecol Endocrinol ; 33(2): 136-140, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27809617

RESUMEN

AIM: To identify if there is a relationship between the deiodinase D2-Thr92Ala genetic variant, thyroid hormone levels and biochemical hypothyroidism in preeclampsia. MATERIALS AND METHODS: We genotyped 125 women with preeclampsia and 131 normal pregnant women using PCR-RFLP. Serum thyroid hormone levels were determined using ELISA. RESULTS: Our study showed higher TSH and FT4 levels and lower FT3 levels in women with preeclampsia compared to normal pregnant women, with statistical significance for women with mild and severe preeclampsia. The risk to develop pregnancy-induced hypertension (PIH), mild or severe preeclampsia was increased in carriers of at least one D2-Ala92 allele. TSH and FT4 levels were significantly higher and FT3 levels were significantly lower in preeclamptic women with severe preeclampsia if they carried the D2-Ala92 allele compared to non-carriers. Pregnant women with PIH and mild preeclampsia, carriers of at least one D2-Ala92 allele, delivered at lower gestational age neonates with a lower birth weight compared to non-carriers, but the results were statistically significant only in severe preeclampsia. CONCLUSION: The D2-Thr92Ala genetic variant is associated with the severity and the obstetric outcome of preeclampsia, and it also influences thyroid hormone levels. The study demonstrates non-thyroidal biochemical hypothyroidism - as a result of deiodination effects due to D2 genotypes.


Asunto(s)
Peso al Nacer , Hipotiroidismo/sangre , Hipotiroidismo/genética , Yoduro Peroxidasa/genética , Trabajo de Parto Prematuro/sangre , Trabajo de Parto Prematuro/genética , Preeclampsia/sangre , Preeclampsia/genética , Hormonas Tiroideas/sangre , Adulto , Femenino , Edad Gestacional , Humanos , Recién Nacido , Embarazo , Índice de Severidad de la Enfermedad , Yodotironina Deyodinasa Tipo II
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