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1.
Healthcare (Basel) ; 12(7)2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38610173

RESUMO

INTRODUCTION: The study aims to compare the efficacy and safety of bulking agents and single-incision slings in the treatment of urinary incontinence in 159 patients during a 29-month follow-up period. MATERIAL AND METHODS: Of the 159 patients suffering from stress urinary incontinence, 64 were treated with bulking agents (PAHG Bulkamid®) and 75 with a single-incision sling (Altis®). The ICIQ-UI-SF (Incontinence Questionnaire-Urine Incontinence-Short Form), PISQ-12 (Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaires short form), FSFI (Female Sexual Function Index), FSDS (Female Sexual Distress Scale), and PGI-I (Patient Global Improvement Index) were used to assess efficiency and quality of life. RESULTS: The bulking agents showed high efficacy and safety during the 29-month follow-up. Post-operative complications were recorded in both groups, with only two significant differences. The Bulkamid group experienced no pain, while 10.8% of the ALTIS group experienced groin pain and 5% experienced de novo urgency. Furthermore, patients treated with bulking agents experienced reduced nicturia (0.78 vs. 0.92 in patients treated with single-incision slings.). In both groups, we noticed a significant improvement in QoL (quality of life), with a halved ICIQ-UI-SF (International Consultation on Incontinence Questionnaire-Urine Incontinence-Short Form) score which was completed to assess the impact of urine symptoms. After 24 months of therapy, the Bulkamid group saw a decrease from 14.58 ± 5.11 at baseline to 5.67 ± 1.90 (p < 0.0001), whereas the ALTIS group experience a decrease from 13.75 ± 5.89 to 5.83 ± 1.78. Similarly, we observed an improvement in sexual function, with the number of sexually active patients increasing from 29 to 44 (56.4%) in the Bulkamid group (p = 0.041) and from 31 to 51 (61.7%) in the ALTIS group (p = 0.034). According to the most recent statistics, the PISQ-12, FSFI, and FSDS scores all demonstrated an improvement in women's sexual function. CONCLUSIONS: In terms of efficacy and safety, bulking agents had notable results over the 29-month follow-up period. Furthermore, the patients treated with bulking agents reported a lower incidence of postoperative complications and a no discernible difference in terms of quality of life and sexual activity compared to the ones treated with single-incision slings. Bulking agents can be considered a very reliable therapeutic option based on accurate patient selection.

2.
Minerva Obstet Gynecol ; 75(2): 138-144, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34498835

RESUMO

BACKGROUND: The aim of this study was to evaluate the efficacy of ospemifene in the Vaginal Health Index (VHI), in the vulvovaginal vascular perfusion, and to assess its impact on quality of life and sexual function. METHODS: Among 52 eligible patients, 43 consecutive postmenopausal patients affected by vulvo-vaginal atrophy (VVA), or genitourinary syndrome (GSM) were evaluated. VVA evaluation and ultrasound of the vulvo-vaginal vascularization by sampling the Pulsatility Index (PI) of clitoris dorsal artery were performed before and after 3 months-treatment with ospemifene. The 36-Item Short Form Survey (SF-36) for the quality-of-life assessment before and after 3 months were available for all women; instead, Female Sexual Function Index (FSFI) and the Female Sexual Distress Scale (FSDS) questionnaires for the sexual function evaluation were performed for sexually active women in the study. The Patient Impression of Global Improvement (PGI-I) after 3 months of treatment was also calculated. RESULTS: The number of sexually active women significantly increased after 3 months (26 [60.46%] vs. 35 [81.39%]; P=0.01). The mean number of intercourses during the treatment increased (12.87±3.43 vs. 15.79±3.12, P=0.03). The PI of clitoris dorsal artery has significantly changed before and after treatment respectively (PI [1.69±0.42 vs. 1.28±0.45, P=0.001] RI [0.74±0.11 vs. 0.54±0.15, P=0.001]). The FSFI, FSDS and SF-36 Questionnaires scores showed a significant improvement after 3 months. VHI and PI were the independent factors of a lower FSFI after 3 months of treatment at multivariate analysis. CONCLUSIONS: Ospemifene improve the VHI and vulvovaginal vascular perfusion demonstrating a positive impact on sexual function and quality of life.


Assuntos
Clitóris , Doenças Vaginais , Feminino , Humanos , Pós-Menopausa , Qualidade de Vida , Tamoxifeno , Doenças Vaginais/terapia
3.
Case Rep Obstet Gynecol ; 2021: 3085559, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34777887

RESUMO

Anti-NMDAR encephalitis is an autoimmune syndrome associated with antibodies against NMDA receptors. In some cases, it is associated with various tumors; one of them is ovarian teratoma, which mostly affects women below the age of 30 years. Here, we report a case of ovarian teratoma associated with anti-NMDAR encephalitis treated with both laparoscopic surgery and immunotherapy. Multidisciplinary approach is the cornerstone for the management of this syndrome.

4.
Updates Surg ; 69(1): 75-82, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28108938

RESUMO

This prospective cohort study aimed to analyze the accuracy of magnetic resonance imaging (MRI) and hysteroscopic excisional biopsy (HEB) for predicting the low- and high-risk patients with endometrial carcinoma for nodal involvement at preoperative evaluation. From January 2005 to December 2006, all patients with a diagnosis of endometrial carcinoma were prospectively included in the study and underwent pelvic MRI and HEB. The pelvic MRI (without contrast) was aimed to evaluate the extent of myometrial invasion (MI < 50%, MI ≥ 50%), the possible involvement of cervical stroma, the ovarian, and lymph nodes status. HEB was performed under general anesthesia, retrieving multiple biopsies through a 5-mm, monopolar, loop electrode. According to our data analysis, the integration of MRI and HEB showed an elevated accuracy and high rates of sensitivity (85.0%), specificity (88.5%), negative predictive value (91.9%) and positive predictive value (79.0%) in identifying low-risk patients who do not need comprehensive surgical staging.


Assuntos
Neoplasias do Endométrio/patologia , Linfonodos/patologia , Cuidados Pré-Operatórios , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia/métodos , Estudos de Coortes , Feminino , Seguimentos , Humanos , Histeroscopia , Metástase Linfática , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade
5.
Biomed Res Int ; 2016: 3617179, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27579309

RESUMO

Endometriosis is defined as the presence of endometrial mucosa (glands and stroma) abnormally implanted in locations other than the uterine cavity. Deep infiltrating endometriosis (DIE) is considered the most aggressive presentation of the disease, penetrating more than 5 mm in affected tissues, and it is reported in approximately 20% of all women with endometriosis. DIE can cause a complete distortion of the pelvic anatomy and it mainly involves uterosacral ligaments, bladder, rectovaginal septum, rectum, and rectosigmoid colon. This review describes the state of the art in laparoscopic approach for DIE with a special interest in intestinal involvement, according to recent literature findings. Our attention has been focused particularly on full-thickness excision versus shaving technique in deep endometriosis intestinal involvement. Particularly, the aim of this paper is clarifying from the clinical and methodological points of view the best surgical treatment of deep intestinal endometriosis, since there is no standard of care in the literature and in different surgical settings. Indeed, this review tries to suggest when it is advisable to manage the full-thickness excision or the shaving technique, also analyzing perioperative management, main complications, and surgical outcomes.


Assuntos
Endometriose/cirurgia , Laparoscopia/métodos , Adulto , Endometriose/patologia , Feminino , Humanos , Laparoscopia/instrumentação
6.
World J Clin Cases ; 4(7): 165-71, 2016 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-27458591

RESUMO

The activities of corticotropin-releasing factor (CRF) and related peptides are mediated a number of receptors with seven transmembrane domains that are coupled to the Gs and Gq proteins. These receptors are known as CRF-Rs. In vitro studies have evidenced that urocortin (UCN) and CRF provoke an increase in the contractility of the uterus which is induced by endometrial prostaglandin F2a. Furthermore, through trophoblasts, it stimulates the secretion of adrenocorticotropic hormone (ACTH) and prostaglandin PGE2 and has a vasodilatory effect on the placenta. While it is well known that the placenta produces considerable quantities of CRF, several studies have, however, excluded that the placenta can generate significant quantities of UCN. In the short term, the human fetal adrenal gland produces more cortisol and dehydroepiandrosterone sulfate. The gestational tissues express UCN3 and UCN2 mRNA in cytotrophoblast and syncytiotrophoblast cells, while UCN2 is only to be found in the maternal and fetal vessels and amniotic cells. Nevertheless, gestational tissues express UCN2 and UCN3 differentially and do not stimulate placental ACTH secretion. In term pregnancies, maternal plasma levels of CRF and UCN are lower than at the beginning of pregnancy and are correlated to labor onset. Conversely, they do not decrease in post-term pregnancies. This evidence would seem to indicate that the fine-regulated expression of these neuropeptides is important in determining the duration of human gestation. In this scenario, low concentrations of UCN in the amniotic fluid at mid-term may be considered a sign of predisposition to preterm birth.

8.
Updates Surg ; 68(2): 149-54, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26826083

RESUMO

Endometrial cancer is now the most common gynecologic malignancy. We investigate on new scientific evidences in endometrial cancer, particularly underlined updates in advanced endometrial cancer. Early stage endometrial cancer is the most frequent presentation; however, advanced endometrial cancer that occurs in 3-13 % of cases has bad prognosis. There are two types of endometrial cancer different in molecular pattern, therapeutic strategy and prognosis. Type I endometrial cancers develop in an environment of unopposed estrogen and often arise out of endometrial hyperplasia, characterized by mutations in the PTEN gene, K-ras, and microsatellite instability inception. Type II cancer is not an estrogen-related cancer, occurs predominantly in postmenopausal women, shows typical mutations in p53 and HER2/neu and has a poor prognosis. Preoperative characterization of the type's disease is an essential step for a right diagnosis and treatment. All patients should undergo to surgical staging, except those who are inoperable, according to FIGO recommendation. Surgical debulking, neoadjuvant chemotherapy and interval debulking can be strategy options.


Assuntos
Procedimentos Cirúrgicos de Citorredução/métodos , Neoplasias do Endométrio/cirurgia , Estadiamento de Neoplasias , Neoplasias do Endométrio/diagnóstico , Feminino , Humanos
9.
PLoS One ; 11(1): e0147528, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26812238

RESUMO

OBJECTIVE: To establish reference charts for fetal cerebellar vermis height in an unselected population. METHODS: A prospective cross-sectional study between September 2009 and December 2014 was carried out at ALTAMEDICA Fetal-Maternal Medical Centre, Rome, Italy. Of 25203 fetal biometric measurements, 12167 (48%) measurements of the cerebellar vermis were available. After excluding 1562 (12.8%) measurements, a total of 10605 (87.2%) fetuses were considered and analyzed once only. Parametric and nonparametric quantile regression models were used for the statistical analysis. In order to evaluate the robustness of the proposed reference charts regarding various distributional assumptions on the ultrasound measurements at hand, we compared the gestational age-specific reference curves we produced through the statistical methods used. Normal mean height based on parametric and nonparametric methods were defined for each week of gestation and the regression equation expressing the height of the cerebellar vermis as a function of gestational age was calculated. Finally the correlation between dimension/gestation was measured. RESULTS: The mean height of the cerebellar vermis was 12.7mm (SD, 1.6mm; 95% confidence interval, 12.7-12.8mm). The regression equation expressing the height of the CV as a function of the gestational age was: height (mm) = -4.85+0.78 x gestational age. The correlation between dimension/gestation was expressed by the coefficient r = 0.87. CONCLUSION: This is the first prospective cross-sectional study on fetal cerebellar vermis biometry with such a large sample size reported in literature. It is a detailed statistical survey and contains new centile-based reference charts for fetal height of cerebellar vermis measurements.


Assuntos
Vermis Cerebelar/fisiologia , Feto/fisiologia , Adulto , Vermis Cerebelar/diagnóstico por imagem , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Gravidez , Estudos Prospectivos , Valores de Referência , Análise de Regressão , Ultrassonografia Pré-Natal
10.
Arch Gynecol Obstet ; 293(6): 1227-33, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26559420

RESUMO

PURPOSE: Low levels of plasmatic pregnancy-associated plasma protein-A (PAPP-A) and high levels of free-beta human chorionic gonadotropin (beta-hCG) could influence the outcome of pregnancy. The objective of this study is to assess the correlation between PAPP-A and free beta-hCG and birth weight. MATERIALS AND METHODS: Prospective follow-up study performed on 3332 patients in the first trimester of pregnancy who were subjected to a screening test focused on evaluation of fetal aneuploidy (SCA-TEST). The values of PAPP-A and free beta-hCG were both analyzed as raw values and subsequently converted to a multiple of the median (MoM). Statistical analysis was performed using SPSS version 17.0.1 (SPSS Inc., Chicago, USA). RESULTS: The incidence of "small for gestational age" in patients with PAPP-A MoM <1st and <5th ‰ was statistically significant (12 and 9.8 %; p < 0.0001). Also statistically significant data have been highlighted about free beta MoM > 95th ‰ (7 %; p = 0.03). The values of PAPP-A MoM > 99th ‰ are significantly correlated with an increased risk of "large for gestational age" (16.7 %; p < 0.0001). CONCLUSION: Our study demonstrates that specific values of PAPP-A and free beta-hCG could identify the risk of low or high birth weight since the first trimester of pregnancy.


Assuntos
Peso ao Nascer , Gonadotropina Coriônica Humana Subunidade beta/sangue , Retardo do Crescimento Fetal/sangue , Proteína Plasmática A Associada à Gravidez/análise , Adulto , Aneuploidia , Biomarcadores/sangue , Feminino , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Gravidez , Primeiro Trimestre da Gravidez/sangue , Estudos Prospectivos
11.
Taiwan J Obstet Gynecol ; 55(6): 863-866, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28040135

RESUMO

OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach. In all these cases, a detailed genetic study is required. PKS is diagnosed by prenatal genetic analysis through chorionic villus sampling, genetic amniocentesis, and cordocentesis. CASE REPORT: We report two cases of PKS with prenatal diagnosis of isochromosome 12p made by cytogenetic studies. The first case is of a 36-year-old pregnant woman who underwent genetic chorionic villus sampling at 13th weeks of gestation after 1st trimester prenatal ultrasound revealed clinical features of PKS: flat nasal bridge and fetal hydrops. The second case is of a 32-year-old pregnant woman with genetic amniocentesis at 17th weeks of gestation that showed mos46,XX[21]/47,XX,+i(12p) associated to PKS. CONCLUSION: New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p).


Assuntos
Amniocentese , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Testes Genéticos/métodos , Mosaicismo , Tetrassomia , Amostra da Vilosidade Coriônica , Cromossomos Humanos Par 12/genética , Hibridização Genômica Comparativa , Cordocentese , Feminino , Idade Gestacional , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez , Ultrassonografia Pré-Natal , Adulto Jovem
12.
J Ultrasound Med ; 34(12): 2187-91, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26507696

RESUMO

OBJECTIVES: The purpose of this study was to estimate the rate of incomplete fetal anatomic surveys during a second-trimester scan due to an unfavorable fetal position in a nonobese population. METHODS: All pregnant women who came to the Altamedica Fetal-Maternal Medical Center, a specialized center for prenatal diagnosis, for a routine second-trimester scan between January 2012 and April 2013 were retrospectively included in the analysis. Patients with a body mass index higher than 30.0 kg/m(2) or anterior fibroids larger than 5 cm were not included in the study. RESULTS: Of 4000 pregnant women admitted for a second-trimester scan, 169 (4.2%) came back within 2 weeks to complete the examination because of an unfavorable fetal position. In particular, 104 (2.6%) needed visualization of only 1 view, and 65 (1.6%) needed more than 1 view. The most difficult organ to visualize was the corpus callosum, in 73 cases (1.8%); the face was not visualized in 69 cases (1.7%); the cerebellar vermis was not seen in 47 fetuses (1.1%); and the heart could not be completely examined in 40 fetuses (1.0%). Of the 4000 women, 169 (4.2%) had a nonexhaustive scan; 149 (3.7%) needed a second scan to complete the second-trimester survey; 14 (0.35%) needed a third scan; and 2 (0.05%) remained with a not completely exhaustive scan. CONCLUSIONS: There is always a small percentage of incomplete fetal anatomic surveys during a second-trimester scan, which cannot be modified by the sonographer's skill or by technical sonographic innovations.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Erros de Diagnóstico/estatística & dados numéricos , Posicionamento do Paciente/estatística & dados numéricos , Segundo Trimestre da Gravidez , Gravidez/estatística & dados numéricos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adolescente , Adulto , Competência Clínica/estatística & dados numéricos , Anormalidades Congênitas/epidemiologia , Erros de Diagnóstico/prevenção & controle , Feminino , Humanos , Itália/epidemiologia , Pessoa de Meia-Idade , Obesidade/diagnóstico por imagem , Obesidade/epidemiologia , Posicionamento do Paciente/métodos , Prevalência , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Risco , Sensibilidade e Especificidade , Adulto Jovem
14.
Am J Obstet Gynecol ; 212(3): 335.e1-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25305408

RESUMO

OBJECTIVE: Nuchal translucency (NT) seen ultrasonographically at 11-14 weeks' gestation is a sensitive marker for Down syndrome. Despite its important role for Down syndrome screening, its use is still considered controversial due to high false-positive rates. We speculated that progesterone could lead to abnormal blood flow patterns and, subsequently, to increased NT. Our primary endpoint was to evaluate the effects of exogenous progesterone on NT thickness compared to controls. The secondary endpoint was to evaluate these effects in a subgroup at low risk for fetal aneuploidies, identifying the strongest factors influencing NT variation. The tertiary endpoint was to evaluate, within the treatment group, if there is any difference in NT according to the type of progesterone administered, route of administration, and dose regimen. STUDY DESIGN: All women who came to measure NT at 11-14 weeks' gestation (crown-rump length between 45-84 mm) were considered eligible. We divided patients into 2 groups: women receiving exogenous progesterone and controls. Afterwards, 3 NT scans were performed for each case, and the largest value, accurate to 2 decimal points, was recorded. RESULTS: In all, 3716 women were enrolled and analyzed. In a crude analysis, NT (P < .05) increased in the exogenous progesterone group. The same results were obtained in the low-risk group (P < .05). The factorial analysis of variance model confirmed a correlation between altered NT and gestational age (P < .0001) and progesterone exposure (P < .05). The characteristics of treatment (route, formulation, dose) were examined separately and no statistically significant differences among the subgroups were observed. CONCLUSION: Exogenous progesterone increases NT.


Assuntos
Medição da Translucência Nucal/efeitos dos fármacos , Progesterona/farmacologia , Progestinas/farmacologia , Administração Intravaginal , Administração Oral , Adolescente , Adulto , Relação Dose-Resposta a Droga , Síndrome de Down/diagnóstico , Feminino , Humanos , Injeções Intramusculares , Modelos Logísticos , Gravidez , Progesterona/administração & dosagem , Progestinas/administração & dosagem , Estudos Prospectivos , Adulto Jovem
15.
J Prenat Med ; 9(1-2): 1-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26918091

RESUMO

During pregnancy, iron deficiency anemia is recognized as a specific risk factor for both adverse maternal and perinatal outcome. We decided to test the hypothesis that the daily administration of Lafergin(®), a dietary multicomponent based on Ferrazone(®) (Ferric Sodium EDTA), Lactoferrin, Vitamin C and Vitamin B12, from first trimester of pregnancy until the end of gestation, may significantly reduce, in anemic women, the severity of anemia compared to controls who received ferrous sulfate or liposomal iron.

16.
J Prenat Med ; 9(1-2): 12-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26918093

RESUMO

OBJECTIVE: to compare perinatal outcome in induced postterm pregnancies with normal amniotic volume and in patients with prolonged pregnancy undergone induction for oligohydramnios, evaluated by two different ultrasonographic methods. METHODS: amniotic fluid volume was measured, using Single Deepest Vertical Pocket (SDVP) and Amniotic Fluid Index (AFI), in 961 singleton uncomplicated prolonged pregnancies. In 109 of these patients, hospitalization was planned for induction of labor, during or after 42 weeks of gestation, for oligohydramnios, postterm pregnancy and other indications in 47, 51 and 11 cases, respectively. Perinatal outcome included: rate of caesarean section, fetal distress, non reassuring fetal heart tracing, presence of meconium, umbilical artery pH < 7.1, Apgar score at 5 minutes < 7, admission to neonatal intensive care unit (NICU). RESULTS: oligohydramnios was diagnosed in 4.89% of cases, when at least one of the two methods was used. A reduced AFI and SDVP value identified 4.47% and 3.75% of cases, respectively, even if without statistical difference. No statistical differences were reported in perinatal outcomes in postterm versus prolonged pregnancies with oligohydramnios, also in relation to the two different ultrasonographic methods. CONCLUSIONS: oligohydramnios is more frequently diagnosed using AFI than SDVP, consequently determining a higher rate of induction of labor. Moreover, perinatal outcome in prolonged induced pregnancies is not affected by oligohydramnios.

17.
J Prenat Med ; 9(1-2): 8-11, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26918092

RESUMO

INTRODUCTION: deletion of long arm of chromosome 1(1q-) is a rare condition. Clinical features include Dwarfism, severe mental retardation, microcephaly and short neck delineating the "intermediate 1q deletion syndrome". CASE REPORT: we report a new case of interstitial deletion of the long arm of chromosome 1, diagnosed in a 22+3 weeks gestation fetus in which cytogenetic analysis localized a loss of genetic materials of 18Mb in the 1q25.3-32.1. Fetal ultrasound showed neurodegenerative defects resembling Dandy-Walker's syndrome and bilateral clubfoot. CONCLUSIONS: clinical characteristics of our case are markedly mild. This suggests that the type and the extension of the mutation obtained through cytogenetic studies, CGH array and ultrasound evaluation should be taken into account for prognostic evaluation and management of these patients.

18.
J Prenat Med ; 9(1-2): 16-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26918094

RESUMO

INTRODUCTION: the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. CASE REPORT: we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. CONCLUSION: a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.

20.
J Prenat Med ; 8(1-2): 31-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25332757

RESUMO

INTRODUCTION: recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. CASE: WE REPORT SIX CASES OF WOMEN WHO UNDERWENT CHORIONIC VILLUS SAMPLING (CVS) OR AMNIOCENTESIS TO CONFIRM THE RESULTS FROM NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome. RESULTS: using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization (Array CGH) the karyotype of all 5 fetuses was found to be normal. CONCLUSION: results from NIPT must always be confirmed by invasive prenatal diagnosis. It is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available.

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