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1.
In Vivo ; 38(2): 754-760, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38418104

RESUMO

AIM: The aim of this study was to investigate perinatal outcome in singleton pregnancies at term with isolated oligohydramnios, diagnosed by using the single deepest pocket method. PATIENTS AND METHODS: In this historic cohort study, the perinatal outcomes of 196 women with isolated oligohydramnios at term, diagnosed by using the single deepest pocket method, were compared to 8,676 women with normal amniotic fluid volume. The primary outcome measure was the Cesarean section rate. Further outcome parameters included the rate of induction of labor, abnormal cardiotocography, umbilical cord pH and base excess, Apgar, meconium-stained liquor and admission to neonatal intensive care unit. RESULTS: In the group with isolated oligohydramnios, there were significantly more Cesarean sections (p=0.0081) and more abnormal cardiotocographies (p=0.0005). Univariate and multivariate analyses showed that this difference was seen particularly in nulliparous women (p=0.0025 for Cesarean section and 0.0368 for abnormal cardiotocography). Peripartal and perinatal outcome parameters were not different between the two groups. CONCLUSION: In women with isolated oligohydramnios at term, there is no impact on fetal outcome. The influence of isolated oligohydramnios on the rate of cesarean section and abnormal cardiotocography is considered to be less than that of parity.


Assuntos
Oligo-Hidrâmnio , Recém-Nascido , Gravidez , Feminino , Humanos , Oligo-Hidrâmnio/diagnóstico , Resultado da Gravidez , Líquido Amniótico , Cesárea , Gestantes , Estudos de Coortes
2.
Afr J Reprod Health ; 27(4): 54-64, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37584908

RESUMO

Oligohydramnios has been a topical issue in obstetrics. The prevalence of oligohydramnios ranges from 1 to 5%. Conflicting data exists concerning its effects on adverse perinatal outcome. This study aims to assess perinatal outcomes of oligohydramnios at the Mekelle Public Hospitals from April 1, 2018 - March 31, 2019. This was a cross-sectional study and a total population purposive sampling method was employed to collect data prospectively. During the study period, there were a total of 10,451 deliveries in both hospitals. Oligohydramnios complicated 332 pregnancies (3.2%, 95%CI: 2.9%, 3.5%) across all gestations and 273 pregnancies (2.6%, 95% CI: 2.3%, 2.9%) at term. The composite adverse perinatal outcome rate was 29.7% (95% CI, 24.5, 35.4). Primigravidity and presenting at post-term gestation were associated with adverse perinatal outcome. Nearly 70% of mothers gave birth via Cesarean delivery. Oligohydramnios was found to be associated with a significant increase in adverse newborn and maternal outcomes in the study setting. Although a significant proportion of mothers underwent Cesarean delivery for a perceived increased complications associated with vaginal delivery in this population of patients, Cesarean delivery was found to not improve perinatal outcome. Primigravids and postdated pregnancies must receive increased surveillance to detect oligohydramnios early and to institute appropriate and timely interventions. Indications for Cesarean delivery in patients complicated by oligohydramnios must be carefully examined to balance the benefit on the perinatal outcome on the one hand and to avoid unnecessary major surgery with potential fatal maternal complications on the other.


Assuntos
Oligo-Hidrâmnio , Gravidez , Recém-Nascido , Feminino , Humanos , Oligo-Hidrâmnio/epidemiologia , Oligo-Hidrâmnio/diagnóstico , Resultado da Gravidez/epidemiologia , Estudos Transversais , Parto Obstétrico , Hospitais
3.
Pediatr Nephrol ; 38(11): 3635-3643, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37219638

RESUMO

BACKGROUND: Renal oligohydramnios (ROH) describes an abnormally low volume of amniotic fluid (AF) during pregnancy. ROH is mostly caused by congenital fetal kidney anomalies. The ROH diagnosis frequently implies an increased risk of peri- and postnatal fetal mortality and morbidity. The present study aimed to evaluate the impact of ROH on pre-and postnatal development in children with congenital kidney anomalies. METHODS: This retrospective study included 168 fetuses with anomalies in the kidney and urinary tract. Based on the amount of AF measured by ultrasound, patients were divided into three groups: normal amniotic fluid (NAF), amniotic fluid in the lower normal range (LAF), and ROH. These groups were compared with respect to prenatal sonographic parameters, perinatal outcomes, and postnatal outcomes. RESULTS: Among the 168 patients with congenital kidney anomalies, 26 (15%) had ROH, 132 (79%) had NAF, and 10 (6%) had LAF. Of the 26 families affected by ROH, 14 (54%) decided to terminate pregnancy. Of 10 live-born children in the ROH group, 6 (60%) survived the observation time; of these, 5/6 presented with chronic kidney disease, stages I-III, at their last examination. The main differences in postnatal development between the ROH group and the NAF and LAF groups were: restricted height and weight gain, respiratory issues, complicated feeding, and the presence of extrarenal malformations. CONCLUSIONS: ROH is not a mandatory indicator of severe postnatal kidney function impairment. However, children with ROH have complicated peri-and postnatal periods, due to the presence of concomitant malformations, which must be considered in prenatal care. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Oligo-Hidrâmnio , Insuficiência Renal Crônica , Sistema Urinário , Gravidez , Feminino , Humanos , Criança , Líquido Amniótico , Estudos Retrospectivos , Rim/diagnóstico por imagem , Rim/anormalidades , Oligo-Hidrâmnio/diagnóstico , Sistema Urinário/diagnóstico por imagem , Sistema Urinário/anormalidades , Ultrassonografia Pré-Natal/efeitos adversos , Insuficiência Renal Crônica/complicações
4.
Genes (Basel) ; 14(4)2023 04 14.
Artigo em Inglês | MEDLINE | ID: mdl-37107671

RESUMO

We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient's blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required.


Assuntos
Oligo-Hidrâmnio , Trissomia , Gravidez , Feminino , Humanos , Adulto , Trissomia/diagnóstico , Trissomia/genética , Placenta , Aconselhamento Genético , Oligo-Hidrâmnio/diagnóstico , Hibridização in Situ Fluorescente , Hibridização Genômica Comparativa , Retardo do Crescimento Fetal/genética , Cromossomos Humanos Par 2
5.
BMC Pregnancy Childbirth ; 22(1): 610, 2022 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-35918640

RESUMO

BACKGROUND: Oligohydramnios is associated with poor maternal and perinatal outcomes. In low-resource countries, including Uganda, oligohydramnios is under-detected due to the scarcity of ultrasonographic services. We determined the prevalence and associated factors of oligohydramnios among women with pregnancies beyond 36 weeks of gestation at Mbarara Regional Referral Hospital (MRRH) in Southwestern Uganda. METHODS: We conducted a hospital-based cross-sectional study from November 2019 to March 2020. Included were women at gestational age > 36 weeks. Excluded were women with ruptured membranes, those in active labour, and those with multiple pregnancies. An interviewer-administered structured questionnaire was used to capture demographic, obstetric, and clinical characteristics of the study participants. We determined oligohydramnios using an amniotic fluid index (AFI) obtained using an ultrasound scan. Oligohydramnios was diagnosed in participants with AFI ≤ 5 cm. We performed multivariable logistic regression to determine factors associated with oligohydramnios. RESULTS: We enrolled 426 women with a mean age of 27 (SD ± 5.3) years. Of the 426 participants, 40 had oligohydramnios, for a prevalence of 9.4% (95%CI: 6.8-12.6%). Factors found to be significantly associated with oligohydramnios were history of malaria in pregnancy (aOR = 4.6; 95%CI: 1.5-14, P = 0.008), primegravidity (aOR = 3.7; 95%CI: 1.6-6.7, P = 0.002) and increasing gestational age; compared to women at 37-39 weeks, those at 40-41 weeks (aOR = 2.5; 95%CI: 1.1-5.6, P = 0.022), and those at > 41 weeks (aOR = 6.0; 95%CI: 2.3-16, P = 0.001) were more likely to have oligohydramnios. CONCLUSION: Oligohydramnios was detected in approximately one out of every ten women seeking care at MRRH, and it was more common among primigravidae, those with a history of malaria in pregnancy, and those with post-term pregnancies. We recommend increased surveillance for oligohydramnios in the third trimester, especially among prime gravidas, those with history of malaria in pregnancy, and those with post-term pregnancies, in order to enable prompt detection of this complication and plan timely interventions. Future longitudinal studies are needed to assess clinical outcomes in women with oligohydramnios in our setting.


Assuntos
Oligo-Hidrâmnio , Adulto , Líquido Amniótico , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Lactente , Masculino , Oligo-Hidrâmnio/diagnóstico , Oligo-Hidrâmnio/epidemiologia , Gravidez , Resultado da Gravidez/epidemiologia , Prevalência , Centros de Atenção Terciária , Uganda/epidemiologia
6.
Sensors (Basel) ; 22(12)2022 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-35746352

RESUMO

A fetal ultrasound (US) is a technique to examine a baby's maturity and development. US examinations have varying purposes throughout pregnancy. Consequently, in the second and third trimester, US tests are performed for the assessment of Amniotic Fluid Volume (AFV), a key indicator of fetal health. Disorders resulting from abnormal AFV levels, commonly referred to as oligohydramnios or polyhydramnios, may pose a serious threat to a mother's or child's health. This paper attempts to accumulate and compare the most recent advancements in Artificial Intelligence (AI)-based techniques for the diagnosis and classification of AFV levels. Additionally, we provide a thorough and highly inclusive breakdown of other relevant factors that may cause abnormal AFV levels, including, but not limited to, abnormalities in the placenta, kidneys, or central nervous system, as well as other contributors, such as preterm birth or twin-to-twin transfusion syndrome. Furthermore, we bring forth a concise overview of all the Machine Learning (ML) and Deep Learning (DL) techniques, along with the datasets supplied by various researchers. This study also provides a brief rundown of the challenges and opportunities encountered in this field, along with prospective research directions and promising angles to further explore.


Assuntos
Oligo-Hidrâmnio , Nascimento Prematuro , Líquido Amniótico/diagnóstico por imagem , Líquido Amniótico/fisiologia , Inteligência Artificial , Feminino , Humanos , Recém-Nascido , Oligo-Hidrâmnio/diagnóstico , Oligo-Hidrâmnio/etiologia , Gravidez , Estudos Prospectivos
7.
BMC Pregnancy Childbirth ; 21(1): 529, 2021 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-34303352

RESUMO

BACKGROUND: There is need to put forward more symptoms and signs that could suggest a diagnosis of uterine rupture so that clinicians' suspicion is increased; there is also need to put forward uncommon intraoperative findings in patients with uterine rupture to correlate with the signs and symptoms of patients. CASE PRESENTATION: A 33 year old Gravida 5 Para 4 + 0 with 2 previous caesarean section scars at 28 weeks of amenorrhoea, presented to hospital complaining of lower abdominal pain for 11 h. She had no vaginal bleeding or vaginal discharge or pain on passing urine. On examination she had no pallor, pulse rate was 84 bpm, blood pressure was 110/80 mm of mercury (mmHg), fundal height was 27 cm (cm), fetal heart rate was regular at 150 beats per minute (bpm) and her cervix had a parous os. She was diagnosed with preterm labour and given dexamethasone intramuscularly, then an obstetric ultrasound scan was done and it revealed severe oligohydramnios. Decision do deliver her by emergency caesarean section was made and intraoperative findings were of a uterine rupture along the uterine scar with a fetal arm protruding through and vernix caseosa in the peritoneal cavity, without active uterine bleeding. The patient recovered well postoperatively. CONCLUSIONS: There is need to suspect uterine rupture in pregnant women with previous caesarean section scars if they present with abdominal pain and are found to have severe oligohydramnios despite having no history of any vaginal discharge, even when the fetal heart rate is normal and they are haemodynamically stable and without vaginal bleeding and remote from term.


Assuntos
Cesárea/efeitos adversos , Ruptura Uterina/diagnóstico , Adulto , Cicatriz/complicações , Feminino , Humanos , Oligo-Hidrâmnio/diagnóstico , Gravidez , Gravidez de Alto Risco , Ultrassonografia Pré-Natal , Nascimento Vaginal Após Cesárea/efeitos adversos
8.
J Perinat Med ; 49(6): 733-739, 2021 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-33730770

RESUMO

OBJECTIVES: To present the consequences of and risk factors for abnormal bleeding after ECV (external cephalic version). METHODS: We conducted a retrospective chart review at a single center in Japan. Abnormal bleeding was defined as vaginal bleeding and/or intrauterine hemorrhage. We descriptively assessed birth outcomes among women with abnormal bleeding, and investigated the risk factors using a logistic regression analysis. RESULTS: Of 477 women who received ECV, 39 (8.2%) showed abnormal bleeding, including 16 (3.4%) with intrauterine hemorrhage. Of the 16 women with intrauterine hemorrhage, 14 required emergency cesarean section; none experienced placental abruption, a low Apgar score at 5 min (<7), or low umbilical cord artery pH (<7.1). Among 23 women who had vaginal bleeding without intrauterine hemorrhage, four cases underwent emergency cesarean section and one case of vaginal delivery involved placental abruption. The risk of abnormal bleeding was higher in women with a maximum vertical pocket (MVP) of <40 mm in comparison to those with an MVP of >50 mm (adjusted odds ratio [OR]: 3.48, 95% confidence interval [CI]: 1.23-9.90), as was higher in women with unsuccessful ECV than in those with successful ECV (aOR: 4.54, 95% CI: 1.95-10.6). CONCLUSIONS: A certain number of women who underwent ECV had abnormal bleeding, including vaginal bleeding and/or intrauterine hemorrhage, many of them resulted in emergency cesarean section. Although all of cases with abnormal bleeding had good birth outcomes, one case of vaginal bleeding was accompanied by placental abruption. Small amniotic fluid volume and unsuccessful ECV are risk factors for abnormal bleeding.


Assuntos
Descolamento Prematuro da Placenta , Serviços Médicos de Emergência , Hemorragia Uterina , Versão Fetal , Descolamento Prematuro da Placenta/epidemiologia , Descolamento Prematuro da Placenta/etiologia , Descolamento Prematuro da Placenta/terapia , Adulto , Índice de Apgar , Cesárea/métodos , Serviços Médicos de Emergência/métodos , Serviços Médicos de Emergência/estatística & dados numéricos , Feminino , Humanos , Japão , Oligo-Hidrâmnio/diagnóstico , Oligo-Hidrâmnio/epidemiologia , Gravidez , Resultado da Gravidez/epidemiologia , Medição de Risco/métodos , Fatores de Risco , Hemorragia Uterina/diagnóstico , Hemorragia Uterina/epidemiologia , Hemorragia Uterina/etiologia , Hemorragia Uterina/terapia , Versão Fetal/efeitos adversos , Versão Fetal/métodos , Versão Fetal/estatística & dados numéricos
9.
Rev Colomb Obstet Ginecol ; 71(3): 286-296, 2020 09.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33247892

RESUMO

OBJECTIVE: To report the case of a partial molar pregnancy with live fetus and conduct a review of the literature regarding maternal and fetal complications associated to this condition. METHODS: Case report of a partial mole with a 33 weeks live fetus complicated by intrauterine growth restriction, oligohydramnios and severe preeclampsia. We report satisfactory maternal and neonatal outcomes and 1-year follow-up. A search was conducted in the Medline via Pubmed, Lilacs, Ovid, Uptodate and Google Scholar databases using the following MESH terms: hiditadiform mole, partial mole, live fetus, coexisting live fetus. Case series and case reports of pregnant women with coexisting partial mole and live fetus at the time of diagnosis were selected and information regarding maternal and fetal prognosis was extracted. RESULTS: Initially, 129 related titles were identified. Of these, 29 met the inclusion criteria, and 4 articles were excluded due to failed access to the full text. Overall, 31 reported cases were included; 9 ended in miscarriage, 8 in fetal demise or perinatal death, and 14 (45 %) resulted in a live neonate. The most frequent maternal complication was preeclampsia in 6 (19.35 %) cases. CONCLUSIONS: The coexistence of a partial mole with a live fetus poses a high risk of adverse perinatal outcomes and preeclampsia. The volume of information regarding this rare condition must be increased in order to better determine potential interventions in cases of euploid fetuses and to provide adequate counseling in clinical practice. Therefore, reporting these cases is important to build sufficient evidence about the natural course of this condition.


TITULO: MOLA PARCIAL CON FETO VIVO, COMPLICADO CON RESTRICCIÓN DE CRECIMIENTO INTRAUTERINO Y PREECLAMSIA SEVERA. REPORTE DE CASO Y REVISIÓN DE LA LITERATURA. OBJETIVO: Reportar un caso de mola parcial con feto vivo y realizar una revisión de la literatura sobre las complicaciones maternas y fetales asociadas a esta condición. METODOS: Se presenta el reporte de un caso de mola parcial y feto vivo de 33 semanas, complicado por restricción de crecimiento intrauterino, oligoamnios y preeclampsia severa. Después de seguimiento del recién nacido a un año reportamos un resultado satisfactorio materno-fetal. Se realiza una búsqueda de la literatura en Medline vía PubMed, Lilacs, OVID, Uptodate y Google Scholar, con los siguientes términos MESH: "hiditadiform mole", "partial mole", "live fetus", "coexisting live fetus". Se seleccionaron estudios de series de caso y reportes de caso de gestantes con coexistencia de mola parcial y feto vivo al momento del diagnóstico, y se extrajo información sobre el pronóstico materno-fetal. RESULTADOS: Se identificaron inicialmente 129 títulos relacionados, de los cuales 29 cumplieron los criterios de inclusión, 4 artículos fueron excluidos por no obtener acceso al texto completo. Se analizaron 31 casos reportados, 9 casos terminaron en aborto, 8 terminaron en óbito o muerte perinatal y 14 (45 %) casos terminaron con un recién nacido vivo. La complicación materna más frecuente fue preeclampsia, en 6 (19,35 %) casos. CONCLUSIONES: La coexistencia de mola parcial con feto vivo presenta un riesgo alto de resultado perinatal adverso y preeclampsia. Se requiere más información sobre esta rara condición para determinar de mejor manera posibles intervenciones en los casos de fetos euploides y dar una adecuada asesoría en la práctica clínica, por lo que es importante el reporte de estos casos para tener suficiente evidencia sobre el comportamiento natural de la enfermedad.


Assuntos
Mola Hidatiforme/diagnóstico por imagem , Resultado da Gravidez , Neoplasias Uterinas/diagnóstico por imagem , Feminino , Retardo do Crescimento Fetal/diagnóstico , Seguimentos , Humanos , Recém-Nascido , Oligo-Hidrâmnio/diagnóstico , Pré-Eclâmpsia/diagnóstico , Gravidez , Adulto Jovem
10.
BMC Med Genomics ; 13(1): 137, 2020 09 18.
Artigo em Inglês | MEDLINE | ID: mdl-32948205

RESUMO

BACKGROUND: The multiple causes of oligohydramnios make it challenging to study. Long noncoding RNAs (lncRNAs) are sets of RNAs that have been proven to function in multiple biological processes. The purpose of this study is to study expression level and possible role of lncRNAs in oligohydramnios. METHODS: In this study, total RNA was isolated from fetal membranes resected from oligohydramnios pregnant women (OP) and normal amount of amniotic fluid pregnant women (Normal). LncRNA microarray was used to analyze the differentially expressed lncRNAs and mRNAs. Kyoto Encyclopedia of Genes and Genomes (KEGG) was used to analyze the main enrichment pathways of differentially expressed mRNAs. Real-time quantitative PCR (qPCR) was used to validate the lncRNA expression level. RESULTS: LncRNA microarray analysis revealed that a total of 801 lncRNAs and 367 mRNAs were differentially expressed in OP; in these results, 638 lncRNAs and 189 mRNAs were upregulated, and 163 lncRNAs and 178 mRNAs were downregulated. Of the lncRNAs, 566 were intergenic lncRNAs, 351 were intronic antisense lncRNAs, and 300 were natural antisense lncRNAs. The differentially expressed lncRNAs were primarily located in chromosomes 2, 1, and 11. KEGG enrichment pathways revealed that the differentially expressed mRNAs were enriched in focal adhesion as well as in the signaling pathways of Ras, tumor necrosis factor (TNF), estrogen, and chemokine. The qPCR results confirmed that LINC00515 and RP11-388P9.2 were upregulated in OP. Furthermore, the constructed lncRNA-miRNA-mRNA regulatory network revealed tenascin R (TNR), cystic fibrosis transmembrane conductance regulator (CFTR), ATP-binding cassette sub-family A member 12 (ABCA12), and collagen 9A2 (COL9A2) as the candidate targets of LINC00515 and RP11-388P9.2. CONCLUSIONS: In summary, we revealed the profiles of lncRNA and mRNA in OP. These results might offer potential targets for biological prevention for pregnant women with oligohydramnios detected before delivery and provided a reliable basis for clinical biological treatment in OP.


Assuntos
Membranas Extraembrionárias/metabolismo , Regulação da Expressão Gênica , Marcadores Genéticos , Oligo-Hidrâmnio/diagnóstico , RNA Longo não Codificante/sangue , RNA Longo não Codificante/genética , Transcriptoma , Adulto , Estudos de Casos e Controles , Biologia Computacional , Feminino , Humanos , Masculino , Oligo-Hidrâmnio/sangue , Oligo-Hidrâmnio/genética , Gravidez , Análise de Sequência de RNA
11.
J Korean Med Sci ; 35(32): e283, 2020 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-32808512

RESUMO

Renal tubular dysgenesis (RTD) is a rare fatal disorder in which there is poor development of proximal tubules, leading to oligohydramnios and the Potter sequences. RTD occurs secondary to renin-angiotensin system (RAS) blockade during the early stages of fetal development or due to autosomal recessive mutation of genes in the RAS pathway. A boy born at 33+1 weeks due to cord prolapse was found to be anuric and hypotensive. Pregnancy was complicated by severe oligohydramnios from gestational age 28+4 weeks. Abdominal sonography revealed diffuse globular enlargement of both kidneys with increased cortical parenchymal echogenicity. Infantogram showed a narrow thoracic cage and skull X-ray showed large fontanelles and wide sutures suggestive of ossification delay. Basal plasma renin activity was markedly elevated and angiotensin-converting enzyme was undetectable. Despite adequate use of medications, peritoneal dialysis, and respiratory support, he did not recover and expired on the 23rd day of life. At first, autosomal recessive polycystic kidney disease was suspected, but severe oligohydramnios along with refractory hypotension, anuria, skull ossification delay and high renin levels made RTD suspicious. ACE gene analysis revealed compound heterozygous pathogenic variations of c.1454.dupC in exon 9 and c.2141dupA in exon 14, confirming RTD. Based on our findings, we propose that, although rare, RTD should be suspected in patients with severe oligohydramnios and refractory hypotension.


Assuntos
Hipotensão/diagnóstico , Túbulos Renais Proximais/anormalidades , Anormalidades Urogenitais/diagnóstico , Éxons , Feminino , Frequência Cardíaca , Heterozigoto , Humanos , Hipotensão/complicações , Recém-Nascido , Recém-Nascido Prematuro , Rim/diagnóstico por imagem , Masculino , Oligo-Hidrâmnio/diagnóstico , Peptidil Dipeptidase A/genética , Polimorfismo de Nucleotídeo Único , Gravidez , Complicações na Gravidez , Ultrassonografia , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/genética
13.
J Matern Fetal Neonatal Med ; 33(1): 113-119, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30021504

RESUMO

Background: The two most commonly used nomograms for amniotic fluid index (AFI) were developed by Moore and Cayle and Magann et al. However, there are several inconsistencies between the two methods.Objective: The aim of the study was to determine whether these differences carry clinical significance.Methods: A retrospective cohort of women with singleton pregnancies evaluated for AFI during pregnancy at a tertiary medical center in 2007-2014 were divided into five groups: group A, definite oligohydramnios-AFI below the fifth percentile according to the nomograms of both Moore and Cayle and Magann et al.; group B, intermediate oligohydramnios-AFI below the fifth percentile according to only one nomogram (Moore and Cayle); group C, euhydramnios-normal AFI according to both nomograms; group D, intermediate polyhydramnios-AFI above the 95th percentile according to one nomogram (Magann et al.); group E, definite polyhydramnios-above the 95th percentile according to both nomograms. The association of group by maternal and perinatal outcomes was analyzed.Results: A total of 6987 women were included: group A, 996 (14%); group B, 1344 (19%); group C, 2561 (37%); group D, 1051 (15%); group E, 1034 (15%). Group B (intermediate oligohydramnios) was characterized by significantly lower rates of adverse perinatal outcomes than group A (definite oligohydramnios): small for gestational age neonate (12.3 versus 15.2%, p = .05), neonatal intensive care unit admission (11.1 versus 21.5%; p < .001), composite respiratory outcome (4.8 versus 9.8%; p < .001), and neonatal sepsis (6.4 versus 10.8%; p < .001). No such differences were found between groups B and C. Group D (intermediate polyhydramnios) differed from group E (definite polyhydramnios) by lower rates of 5 minutes Apgar score <7 (1.3 versus 3.2%; p = .003), neonatal intensive care unit admission (10.9 versus 14.4%; p = .02), and major congenital anomalies (1.7 versus 5.6%; p = .02). There was no difference in these parameters between groups D and C.Conclusion: This study suggests that intermediate oligohydramnios and intermediate polyhydramnios are not associated with adverse perinatal outcomes. Outcome in these pregnancies is similar to pregnancies with euhydramnios. Commonly used AFI nomograms should be updated.


Assuntos
Líquido Amniótico/fisiologia , Indicadores Básicos de Saúde , Nomogramas , Resultado da Gravidez , Adulto , Feminino , Idade Gestacional , Humanos , Oligo-Hidrâmnio/diagnóstico , Poli-Hidrâmnios/diagnóstico , Gravidez , Nascimento Prematuro/diagnóstico , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/normas , Adulto Jovem
14.
Am J Obstet Gynecol ; 221(6): B10-B12, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31787157

Assuntos
Pé Torto Equinovaro/diagnóstico por imagem , Ultrassonografia Pré-Natal , Amniocentese , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Artrogripose/complicações , Artrogripose/diagnóstico , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/diagnóstico , Apresentação Pélvica/diagnóstico , Amostra da Vilosidade Coriônica , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genética , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/etiologia , Pé Torto Equinovaro/genética , Diagnóstico Diferencial , Encefalocele/complicações , Encefalocele/diagnóstico , Encefalocele/genética , Feminino , Testes Genéticos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Análise em Microsséries , Oligo-Hidrâmnio/diagnóstico , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Doenças Renais Policísticas/complicações , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/genética , Gravidez , Segundo Trimestre da Gravidez , Retinite Pigmentosa/complicações , Retinite Pigmentosa/diagnóstico , Retinite Pigmentosa/genética
15.
Taiwan J Obstet Gynecol ; 58(6): 859-863, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31759543

RESUMO

OBJECTIVE: We present detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. CASE REPORT: A 37-year-old, primigravid woman was referred for level II ultrasound examination at 16 weeks of gestation because of oligohydramnios. The parents were phenotypically normal, and there were no congenital malformations in the family. Prenatal ultrasound at 17 weeks of gestation revealed a fetus with fetal growth biometry equivalent to 16 weeks, oligohydramnios with an amniotic fluid index (AFI) of 1.4 cm and bilateral renal dysplasia without sonographic demonstration of bilateral renal arteries. The pregnancy was subsequently terminated, and a 137-g fetus was delivered without characteristic facial dysmorphism. Postnatal cytogenetic analysis of the umbilical cord and parental bloods revealed normal karyotypes. However, array comparative genomic hybridization (aCGH) analysis on the DNA extracted from the umbilical cord revealed a 2.038-Mb microdeletion of 1q21.1-q21.2 encompassing 11 [Online Mendelian Inheritance in Man (OMIM)] genes of PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, NBPF14, TRN-GTT2-1 and NBPF20. The mother was found to carry the same microdeletion. A missense mutation of c.2353T > G, p.Ser785Ala in CHD1L was detected in the umbilical cord. The father was found to carry a heterozygous mutation of c.2353T > G, p.Ser785Ala in CHD1L. CONCLUSION: Fetuses with a 1q21.1 microdeletion and concomitant CHD1L mutation may present oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.


Assuntos
Anormalidades Múltiplas/diagnóstico , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Túbulos Renais Proximais/anormalidades , Megalencefalia/diagnóstico , Mutação de Sentido Incorreto , Oligo-Hidrâmnio/diagnóstico , Ultrassonografia Pré-Natal/métodos , Anormalidades Urogenitais/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/metabolismo , Adulto , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 1/metabolismo , DNA/genética , DNA Helicases/metabolismo , Análise Mutacional de DNA , Proteínas de Ligação a DNA/metabolismo , Feminino , Humanos , Megalencefalia/genética , Megalencefalia/metabolismo , Oligo-Hidrâmnio/genética , Gravidez , Anormalidades Urogenitais/genética
16.
Harefuah ; 158(11): 728-731, 2019 Nov.
Artigo em Hebraico | MEDLINE | ID: mdl-31721516

RESUMO

INTRODUCTION: There are two methods to diagnose oligohydramnios: maximal vertical pocket (MVP) and amniotic fluid index (AFI). Following a recent large Cochrane review and other studies, MVP is being recommended as the method of choice by professional societies, after it was shown to result in fewer inductions of labor and C-sections (CS), without compromising neonatal outcome. There is controversy regarding the management of isolated oligohydramnios (IO). It is unclear whether this finding reflects an underlying pathological process, and therefore management protocols differ between different institutions. Studies have shown a higher rate of CS (RR of >2) in IO. Whether this is a true complication of IO or is a result of different confounders like labor inductions and primigravidity is unclear. The effects on neonatal outcomes are also unclear; whereas some authors did not show any adverse effects, others have shown higher rates of neonatal intensive care unit (NICU) admissions, lower Apgar scores and higher rate of Meconium aspiration syndrome. Some studies have shown a higher rate of undiagnosed small for gestational age (SGA) in IO pregnancies. There is no consensus regarding the optimal management and time of delivery. Until now, common practice was to induce labor at term, and some advocate induction in late preterm. Recently, the growing awareness to early term morbidity has led practitioners to question the benefit of early induction. There are several studies that have shown maternal hydration to improve AFI, but there is insufficient data to show the effect on outcomes. In conclusion, many questions regarding IO are still unanswered, and further research, specifically RCT studies, is needed.


Assuntos
Síndrome de Aspiração de Mecônio , Oligo-Hidrâmnio , Líquido Amniótico , Feminino , Humanos , Recém-Nascido , Trabalho de Parto Induzido , Síndrome de Aspiração de Mecônio/diagnóstico , Oligo-Hidrâmnio/diagnóstico , Oligo-Hidrâmnio/terapia , Gravidez , Resultado da Gravidez
17.
Taiwan J Obstet Gynecol ; 58(5): 692-697, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31542095

RESUMO

OBJECTIVE: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature. CASE REPORT: A 37-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed a result of arr(22) × 3 [0.8]. Prenatal ultrasound revealed fetal median facial cleft, oligohydramnios and IUGR. Repeat amniocentesis at 22 weeks of gestation using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 (17,397,498-51,178,264) × 2.8 compatible with 80% mosaicism for trisomy 22, and a fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7]. CONCLUSION: Fetuses with high level mosaicism for trisomy 22 at amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.


Assuntos
Amniocentese/métodos , Transtornos Cromossômicos/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Anormalidades Maxilofaciais/diagnóstico , Oligo-Hidrâmnio/diagnóstico , Trissomia/diagnóstico , Dissomia Uniparental/diagnóstico , Aborto Induzido , Adulto , Transtornos Cromossômicos/embriologia , Cromossomos Humanos Par 22 , Hibridização Genômica Comparativa , Feminino , Retardo do Crescimento Fetal/genética , Humanos , Hibridização in Situ Fluorescente , Anormalidades Maxilofaciais/embriologia , Anormalidades Maxilofaciais/genética , Mosaicismo/embriologia , Oligo-Hidrâmnio/genética , Gravidez , Ultrassonografia Pré-Natal
18.
Semin Pediatr Surg ; 28(4): 150822, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31451176

RESUMO

The field of pediatric Surgery now encompasses fetal Surgery. The purpose of this article is to review aspects of antepartum care pertinent to the fetal and pediatric surgeon. We summarize antepartum screening, methods to assess the fetus, gestational disorders and variants of umbilical cord insertion sites and the placenta.


Assuntos
Testes Genéticos , Diagnóstico Pré-Natal , Aneuploidia , Gonadotropina Coriônica/sangue , Anormalidades Congênitas/diagnóstico , Estriol/sangue , Feminino , Desenvolvimento Fetal , Retardo do Crescimento Fetal/diagnóstico , Humanos , Oligo-Hidrâmnio/diagnóstico , Placenta/anormalidades , Poli-Hidrâmnios/diagnóstico , Gravidez , Trimestres da Gravidez , Proteína Plasmática A Associada à Gravidez/análise , Ultrassonografia Pré-Natal , Cordão Umbilical/anormalidades , alfa-Fetoproteínas/análise
19.
J Gynecol Obstet Hum Reprod ; 48(7): 495-499, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31176048

RESUMO

OBJECTIVE: It's proposed that oligohydramnios is caused by decreased renal perfusion due to redistribution of fetal blood at fetal growth restriction. Isolated oligohydramnios refers to the presence of oligohydramnios without fetal structural and chromosomal abnormalities, without fetal growth restriction, without intrauterine infection, and in the absence of known maternal disease. It's unknown whether the redistribution or decreased renal perfusion cause isolated oligohydramnios. The aim of the study was to evaluate fetal renal artery Doppler blood velocimetry and cerebro-placental ratio (CPR) among women with isolated oligohydramnios between 25-40 weeks of gestational age. STUDY DESIGN: The middle cerebral artery, umbilical artery and, renal artery pulsatility index (PI) values were measured in 45 fetuses with isolated oligohydramnios and 65 fetuses with normal amniotic fluid. Oligohydramnios was defined as deepest vertical amniotic fluid being measured lower than 1cm. The CPR (middle cerebral artery PI/umbilical artery PI) and renal artery PI values were expressed as multiples of the normal median (MoM) and were compared between the two groups. RESULTS: There was no difference in MoM of CPR PI (p=0.167) and MoM of renal artery PI values (right p=0.253, left p=0.353) between the groups. CONCLUSION: The renal artery Doppler velocimetry and CPR were not significantly different in the women with isolated oligohydramnios, compared to the women with normal amniotic fluid.


Assuntos
Encéfalo/irrigação sanguínea , Feto/irrigação sanguínea , Rim/irrigação sanguínea , Oligo-Hidrâmnio/fisiopatologia , Circulação Placentária/fisiologia , Circulação Renal/fisiologia , Líquido Amniótico/fisiologia , Velocidade do Fluxo Sanguíneo/fisiologia , Estudos de Casos e Controles , Feminino , Feto/diagnóstico por imagem , Humanos , Recém-Nascido , Rim/diagnóstico por imagem , Rim/embriologia , Masculino , Artéria Cerebral Média/fisiopatologia , Oligo-Hidrâmnio/diagnóstico , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Fluxo Pulsátil , Artéria Renal/fisiologia , Ultrassonografia Doppler em Cores , Ultrassonografia Pré-Natal
20.
Ultrasound Obstet Gynecol ; 54(6): 767-773, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30834608

RESUMO

OBJECTIVE: Amniotic fluid volume (AFV) plays an important role in early fetal lung development, and oligohydramnios in early pregnancy is associated with pulmonary hypoplasia. The aim of this study was to evaluate the association between AFV at the time of presentation with early preterm prelabor rupture of membranes (PPROM) and severe neonatal respiratory morbidity and other adverse pregnancy outcomes. METHODS: This was a retrospective study of all women with a singleton pregnancy, admitted to a single tertiary referral center between 2004 and 2014, for expectant management of PPROM at 20 + 0 to 28 + 6 weeks' gestation. The primary exposure was AFV at presentation, classified according to sonographic maximum vertical pocket (MVP) as: normal AFV (> 2 cm), oligohydramnios (≤ 2 cm and > 1 cm) or severe oligohydramnios (≤ 1 cm). The primary outcome was a composite variable of severe respiratory morbidity, defined as either of the following: (1) need for respiratory support in the form of mechanical ventilation using an endotracheal tube for ≥ 72 h and need for surfactant; or (2) bronchopulmonary dysplasia, defined as requirement for oxygen at postmenstrual age of 36 weeks or at the time of transfer to a Level-II facility. Adjusted odds ratios (aOR) and 95% CI for the primary and secondary outcomes were calculated for each AFV-at-presentation group (using normal AFV as the reference), adjusting for gestational age (GA) at PPROM, latency period, birth weight, mode of delivery and chorioamnionitis. RESULTS: In total, 580 women were included, of whom 304 (52.4%) had normal AFV, 161 (27.8%) had oligohydramnios and 115 (19.8%) had severe oligohydramnios at presentation. The rates of severe respiratory morbidity were 16.1%, 26.7% and 45.2%, respectively. Compared with normal AFV at presentation, oligohydramnios (aOR, 3.27; 95% CI, 1.84-5.84) and severe oligohydramnios (aOR, 4.11; 95% CI, 2.26-7.56) at presentation were associated independently with severe respiratory morbidity. Other variables that were associated independently with the primary outcome were GA at PPROM (aOR, 0.54; 95% CI, 0.43-0.69), latency period (aOR, 0.94; 95% CI, 0.91-0.98) and Cesarean delivery (aOR, 2.01; 95% CI, 1.21-3.32). CONCLUSIONS: In women with early PPROM, AFV at presentation, as assessed by the MVP on ultrasound examination, is associated independently with severe neonatal respiratory morbidity. This information may be taken into consideration when counseling women with early PPROM regarding neonatal outcome and management options. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Líquido Amniótico/diagnóstico por imagem , Ruptura Prematura de Membranas Fetais/diagnóstico , Oligo-Hidrâmnio/diagnóstico , Síndrome Respiratória Aguda Grave/mortalidade , Anormalidades Múltiplas/etiologia , Adulto , Líquido Amniótico/fisiologia , Peso ao Nascer/fisiologia , Displasia Broncopulmonar/diagnóstico , Displasia Broncopulmonar/epidemiologia , Displasia Broncopulmonar/terapia , Cesárea/métodos , Corioamnionite/diagnóstico , Corioamnionite/epidemiologia , Corioamnionite/etiologia , Parto Obstétrico/tendências , Feminino , Ruptura Prematura de Membranas Fetais/tratamento farmacológico , Ruptura Prematura de Membranas Fetais/epidemiologia , Idade Gestacional , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Pulmão/anormalidades , Pneumopatias/etiologia , Oligo-Hidrâmnio/epidemiologia , Oligo-Hidrâmnio/etiologia , Gravidez , Resultado da Gravidez/epidemiologia , Segundo Trimestre da Gravidez , Respiração Artificial/métodos , Respiração Artificial/estatística & dados numéricos , Estudos Retrospectivos , Síndrome Respiratória Aguda Grave/terapia , Centros de Atenção Terciária
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