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1.
Ultrasound Obstet Gynecol ; 61(6): 719-727, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36610024

RESUMO

OBJECTIVE: In-utero repair of open neural tube defects (ONTD) is an accepted treatment option with demonstrated superior outcome for eligible patients. While current guidelines recommend genetic testing by chromosomal microarray analysis (CMA) when a major congenital anomaly is detected prenatally, the requirement for an in-utero repair, based on the Management of Myelomeningocele Study (MOMS) criteria, is a normal karyotype. In this study, we aimed to evaluate if CMA should be recommended as a prerequisite for in-utero ONTD repair. METHODS: This was a retrospective cohort study of pregnancies complicated by ONTD that underwent laparotomy-assisted fetoscopic repair or open-hysterotomy fetal surgery at a single tertiary center between September 2011 and July 2021. All patients met the MOMS eligibility criteria and had a normal karyotype. In a subset of the pregnancies (n = 77), CMA testing was also conducted. We reviewed the CMA results and divided the cohort into two groups according to whether clinically reportable copy-number variants (CNV) were detected (reportable-CNV group) or not (normal-CMA group). Surgical characteristics, complications, and maternal and early neonatal outcomes were compared between the two groups. The primary outcomes were fetal or neonatal death, hydrocephalus, motor function at 12 months of age and walking status at 30 months of age. Standard parametric and non-parametric statistical tests were employed as appropriate. RESULTS: During the study period, 146 fetuses with ONTD were eligible for and underwent in-utero repair. CMA results were available for 77 (52.7%) patients. Of those, 65 (84%) had a normal CMA and 12 (16%) had a reportable CNV, two of which were classified as pathogenic. The first case with a pathogenic CNV was diagnosed with a 749-kb central 22q11.21 deletion spanning low-copy-repeat regions B-D of chromosome 22; the second case was diagnosed with a 1.3-Mb interstitial deletion at 1q21.1q21.2. Maternal demographics, clinical characteristics, operative data and postoperative complications were similar between those with normal CMA results and those with reportable CNVs. There were no significant differences in gestational age at delivery or any obstetric and early neonatal outcome between the study groups. Motor function at birth and at 12 months of age, and walking status at 30 months of age, were similar between the two groups. CONCLUSIONS: Standard diagnostic testing with CMA should be offered when an ONTD is detected prenatally, as this approach has implications for counseling regarding prognosis and recurrence risk. Our results indicate that the presence of a clinically reportable CNV should not a priori affect eligibility for in-utero repair, as overall pregnancy outcome is similar in these cases to that of cases with normal CMA. Nevertheless, significant CMA results will require a case-by-case multidisciplinary discussion to evaluate eligibility. To generalize the conclusion of this single-center series, a larger, multicenter long-term study should be considered. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Meningomielocele , Cuidado Pré-Natal , Recém-Nascido , Feminino , Gravidez , Humanos , Pré-Escolar , Estudos Retrospectivos , Cuidado Pré-Natal/métodos , Feto , Meningomielocele/cirurgia , Análise em Microsséries/métodos , Diagnóstico Pré-Natal/métodos , Estudos Multicêntricos como Assunto
2.
Ultrasound Obstet Gynecol ; 57(1): 134-140, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32529669

RESUMO

OBJECTIVES: To determine the rate of pregnancy complications and adverse obstetric and neonatal outcomes of twin pregnancies that were reduced to singleton at an early compared with a later gestational age. METHODS: This was a historical cohort study of dichorionic diamniotic twin pregnancies that underwent fetal reduction to singletons in a single tertiary referral center between January 2005 and February 2017. The study population was divided into two groups according to gestational age at fetal reduction: those performed at 11-14 weeks' gestation, mainly at the patient's request or as a result of a complicated medical or obstetric history; and selective reductions performed at 15-23 weeks for structural or genetic anomalies. The main outcome measures compared between pregnancies that underwent early reduction and those that underwent late reduction included rates of pregnancy complications, pregnancy loss, preterm delivery and adverse neonatal outcome. RESULTS: In total, 248 dichorionic diamniotic twin pregnancies were included, of which 172 underwent early reduction and 76 underwent late reduction. Although gestational age at delivery was not significantly different between the late- and early-reduction groups (38 weeks, (interquartile range (IQR), 36-40 weeks) vs 39 weeks (IQR, 38-40 weeks); P = 0.2), the rates of preterm delivery < 37 weeks (28.0% vs 14.0%; P = 0.01), < 34 weeks (12.0% vs 1.8%; P = 0.002) and < 32 weeks (8.0% vs 1.8%; P = 0.026) were significantly higher in pregnancies that underwent late reduction. Regression analysis revealed that late reduction of twins was an independent risk factor for preterm delivery, after adjustment for maternal age, parity, body mass index and the location of the reduced sac. Rates of early complications linked to the reduction procedure itself, such as infection, vaginal bleeding and leakage of fluids, were comparable between the groups (7.0% for early reduction vs 9.2% for late reduction; P = 0.53). There was no significant difference in the rate of pregnancy loss before 24 weeks (0.6% for early reduction vs 1.3% for late reduction; P = 0.52), and no cases of intrauterine fetal death at or after 24 weeks were documented. There was no significant difference in the prevalence of gestational diabetes mellitus, hypertensive disorders of pregnancy, preterm prelabor rupture of membranes or small-for-gestational age. The rates of respiratory distress syndrome (6.7% vs 0%; P = 0.002), need for mechanical ventilation (6.7% vs 0.6%; P = 0.01) and composite neonatal morbidity (defined as one or more of respiratory distress syndrome, sepsis, necrotizing enterocolitis, intraventricular hemorrhage, need for respiratory support or neonatal death) (10.7% vs 2.9%; P = 0.025) were higher in the late- than in the early-reduction group. Other neonatal outcomes were comparable between the groups. CONCLUSIONS: Compared with late first-trimester reduction of twins, second-trimester reduction is associated with an increased rate of prematurity and adverse neonatal outcome, without increasing the rate of procedure-related complications. Technological advances in sonographic diagnosis and more frequent use of chorionic villus sampling have enabled earlier detection of fetal anatomic and chromosomal abnormalities. Therefore, efforts should be made to complete early fetal assessment to allow reduction during the first trimester. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Resultado da Gravidez/epidemiologia , Redução de Gravidez Multifetal/métodos , Adulto , Feminino , Humanos , Gravidez , Redução de Gravidez Multifetal/efeitos adversos , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Gravidez de Gêmeos , Nascimento Prematuro/prevenção & controle
3.
J Perinatol ; 38(1): 35-40, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29048406

RESUMO

OBJECTIVE: Twin pregnancies are characterized by unique pattern of attenuated fetal weight gain during late gestation compared with singleton gestation. The mechanism(s) responsible for regulating twin growth has not yet elucidated. Leptin and adiponectin are two adipocytokines implicated in metabolism and energy balance of fetuses, newborns and adults. Moreover, these hormones have been suggested to play a role in fetal growth. The objective of the study was to determine cord blood adiponectin and leptin in twins and singletons, with and without growth impairment. STUDY DESIGN: This was a case-control study. It included two groups of newborns, matched for gestational age and birth weight percentile: singleton (n=60 newborns) and twins (n=44 newborns). Adiponectin and leptin were determined in cord blood, and compared between the groups according to clinical and demographic characteristics. Non-parametric and parametric statistical methods were employed. RESULTS: Median adiponectin and leptin concentrations were lower in twins vs singletons (P<0.001 for both comparisons). Among small for gestational age newborns (SGA), median concentration of adiponectin (P=0.04), but not leptin (P=0.1), was lower in twins compared to singletons. In pooled analysis (singleton plus twins), cord blood adiponectin and leptin were strongly correlated with gestational age (P<0.001 and P=0.005, respectively) and birth weight (P<0.001 and P<0.001, respectively). Regression analysis revealed that plurality (P=0.02) was significantly and independently associated with cord blood adiponectin concentrations, after adjustment for confounding variables. Similar regression in which leptin was the independent variable revealed that only birth weight (P=0.01) was significantly and independently associated with cord blood leptin concentrations. CONCLUSIONS: Twin pregnancies are associated with lower cord blood concentrations of adiponectin and leptin compared with singleton gestations. However, only cord blood adiponectin, but not leptin, was lower in SGA neonates. Collectively, these data suggest that adiponectin may be implicated in the mechanism accounting for the growth disparity between twins and singletons.


Assuntos
Adiponectina/sangue , Sangue Fetal/química , Desenvolvimento Fetal , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Leptina/sangue , Gravidez de Gêmeos/sangue , Adulto , Peso ao Nascer , Estudos de Casos e Controles , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Modelos Lineares , Gravidez
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