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BACKGROUND: A retrospective cohort study was conducted to collect the data of pregnant women who received hospital delivery in Hangzhou Women's Hospital from January 2018 to December 2020, and who participated in the second trimester (15-20+6 weeks) of free beta human chorionic gonadotropin (free ß-hCG). And the study was conducted to explore the relationship between maternal serum free ß-hCG and adverse pregnancy outcomes (APO). METHODS: We retrospectively analyzed the clinical data of 1,978 women in the elevated maternal serum free ß-hCG group (free ß-hCG ≥ 2.50 multiples of the median, MoM) and 20,767 women in the normal group (0.25 MoM ≤ free ß-hCG < 2.50 MoM) from a total of 22,745 singleton pregnancies, and modified Poisson regression analysis was used to calculate risk ratios (RRs) and 95% confidence intervals (CI) of the two groups. RESULTS: The gravidity and parity in the elevated free ß-hCG group were lower, and the differences between the groups were statistically significant (all, P < 0.05). The risks of polyhydramnios, preeclampsia, and hyperlipidemia, were increased in women with elevated free ß-hCG levels (RRs: 1.996, 95% CI: 1.322-3.014; 1.469, 95% CI: 1.130-1.911 and 1.257, 95% CI: 1.029-1.535, respectively, all P < 0.05), intrauterine growth restriction (IUGR) and female infants were also likely to happen (RRs = 1.641, 95% CI: 1.103-2.443 and 1.101, 95% CI: 1.011-1.198, both P < 0.05). Additionally, there was an association between elevated AFP and free ß-hCG levels in second-trimester (RR = 1.211, 95% CI: 1.121-1.307, P < 0.001). CONCLUSIONS: APOs, such as polyhydramnios, preeclampsia, and hyperlipidemia, were increased risks of elevated free ß-hCG levels, IUGR and female infants were also likely to happen. Furthermore, there was an association between elevated AFP levels and elevated free ß-hCG levels in second-trimester. We recommend prenatal monitoring according to the elevated maternal serum free ß-hCG level and the occurrence of APO.
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Gonadotropina Coriônica Humana Subunidade beta , Resultado da Gravidez , Segundo Trimestre da Gravidez , Humanos , Gravidez , Feminino , Estudos Retrospectivos , Segundo Trimestre da Gravidez/sangue , Adulto , Resultado da Gravidez/epidemiologia , Gonadotropina Coriônica Humana Subunidade beta/sangue , Complicações na Gravidez/sangue , Complicações na Gravidez/epidemiologia , China/epidemiologia , Pré-Eclâmpsia/sangue , Pré-Eclâmpsia/epidemiologia , Estudos de Coortes , Poli-Hidrâmnios/sangue , Poli-Hidrâmnios/epidemiologia , Gonadotropina Coriônica/sangue , Hiperlipidemias/sangue , Hiperlipidemias/epidemiologiaRESUMO
INTRODUCTION: Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. CASE PRESENTATION: The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. CONCLUSION: Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.
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Neoplasias de Cabeça e Pescoço , Teratoma , Ultrassonografia Pré-Natal , Humanos , Teratoma/cirurgia , Teratoma/diagnóstico por imagem , Teratoma/diagnóstico , Teratoma/congênito , Feminino , Recém-Nascido , Gravidez , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/congênito , Neoplasias de Cabeça e Pescoço/patologia , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/cirurgia , Obstrução das Vias Respiratórias/diagnóstico por imagem , Poli-HidrâmniosRESUMO
OBJECTIVES: To identify predictors of outcomes in severe twin oligo-polyhydramnios sequence (TOPS) with or without twin anemia-polycythemia sequence (TAPS) and/or selective fetal growth restriction (SFGR) treated by laser ablation of placental vessels (LAPV). METHODS: Analysis of cases treated from 2011 to 2022. Variables evaluated Prenatal predictors: stages of TOPS, presence of TAPS and/or SFGR; pre-LAPV fetal ultrasound parameters; peri-LAPV variables. Perinatal predictors: GA at birth; birthweight; Apgar scores; transfontanellar ultrasonography (TFUS). OUTCOME VARIABLES: fetal death, neonatal survival, infant's neurodevelopment. Binary logistic regression analyses were performed to detect predictors of outcomes. RESULTS: 265 cases were included. Predictors of post-LAPV donor fetus' death were delta EFW (p:0.045) and absent/reverse end-diastolic flow in the umbilical artery (AREDF-UA) (p < 0.001). The predictor of post-LAPV recipient fetus' death was hydrops (p:0.009). Predictors of neonatal survival were GA at birth and Apgar scores. Predictors of infant's neurodevelopment were TFUS and pre-LAPV middle cerebral artery Doppler (MCAD) for the donor twin; and pre-LAPV ductus venosus' flow and MCAD for the recipient twin. CONCLUSIONS: Prediction of fetal death, neonatal survival and infant's neurodevelopment is possible in cases of TOPS associated or not with SFGR and/or TAPS that were treated by LAPV.
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Transfusão Feto-Fetal , Terapia a Laser , Morte Perinatal , Poli-Hidrâmnios , Recém-Nascido , Gravidez , Feminino , Humanos , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/cirurgia , Placenta/diagnóstico por imagem , Placenta/cirurgia , Placenta/irrigação sanguínea , Morte Fetal/etiologia , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal , Retardo do Crescimento Fetal , Gravidez de Gêmeos , Estudos RetrospectivosRESUMO
A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the X-linked MAGED2 variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild-to-moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25 weeks with fetal demise. Whole exome sequencing of the amniotic fluid sample resulted after the pregnancy loss and revealed a c.1337G>A MAGED2 variant that was considered diagnostically. The subsequent pregnancy was confirmed by chorionic villi sampling to also be affected by this variant. The pregnancy was managed with frequent ultrasounds and three amnioreductions that resulted in spontaneous vaginal delivery at 37 weeks and 6 days of a viable newborn with no evidence of overt electrolyte abnormalities suggesting complete resolution. A detailed review of the published cases of MAGED2-related transient aBS is provided. Our review focuses on individuals who received antenatal treatment. A total of 31 unique cases of MAGED2-related transient aBS were compiled. Amnioreduction was performed in 23 cases and in 18 cases no amnioreduction was performed. The average gestational age at delivery was significantly lower in cases without serial amnioreduction (28.7 vs. 30.71 weeks, p = 0.03). Neonatal mortality was seen in 5/18 cases without serial amnioreduction, and no mortality was observed in the cases with serial amnioreduction. In cases of second trimester severe polyhydramnios without identifiable cause, whole exome sequencing should be considered. Intensive ultrasound surveillance and serial amnioreduction is recommended for the management of MAGED2-related transient aBS.
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Aborto Espontâneo , Síndrome de Bartter , Poli-Hidrâmnios , Nascimento Prematuro , Gravidez , Humanos , Feminino , Recém-Nascido , Síndrome de Bartter/diagnóstico , Poli-Hidrâmnios/diagnóstico por imagem , Poli-Hidrâmnios/terapia , Morte Fetal , Antígenos de Neoplasias , Proteínas Adaptadoras de Transdução de SinalRESUMO
BACKGROUND: Tumors are rare in neonatal age. Congenital mesoblastic nephroma (CMN) is a usually benign renal tumor observed at birth, or in the first months of life. It may also be identified prenatally and associated with polyhydramnios leading to preterm delivery. Effective treatment is surgical in most cases, consisting in total nephrectomy. In literature, very few studies report on the neonatal management of such a rare disease, and even less are those describing its uncommon complications. CASES PRESENTATION: We report on two single-center newborns affected with CMN. The first patient is a preterm female baby, born at 30+ 1 weeks of gestation (WG) due to premature labor, with prenatal (25 WG) identification of an intra-abdominal fetal mass associated with polyhydramnios. Once obtained the clinical stability, weight gain, instrumental (computed tomography, CT, showing a 4.8 × 3.3 cm left renal neoformation) and histological/molecular characterization of the lesion (renal needle biopsy picture of classic CMN with ETV6-NTRK3 translocation), a left nephrectomy was performed at 5 weeks of chronological age. The following clinical course was complicated by intestinal obstruction due to bowel adherences formation, then by an enterocutaneous fistula, requiring multiple surgical approaches including transitory ileo- and colostomy, before the conclusive anastomoses intervention. The second patient is a 17-day-old male term baby, coming to our observation due to postnatal evidence of palpable left abdominal mass (soon defined through CT, showing a 7.5 × 6.5 cm neoformation in the left renal lodge), feeding difficulties and poor weight gain. An intravenous diuretic treatment was needed due to the developed hypertension and hypercalcemia, which regressed after the nephrectomy (histological diagnosis of cellular CMN with ETV6-NTRK3 fusion) performed at day 26. In neither case was chemotherapy added. Both patients have been included in multidisciplinary follow-up, they presently show regular growth and neuromotor development, normal renal function and no local/systemic recurrences or other gastrointestinal/urinary disorders. CONCLUSIONS: The finding of a fetal abdominal mass should prompt suspicion of CMN, especially if it is associated with polyhydramnios; it should also alert obstetricians and neonatologists to the risk of preterm delivery. Although being a usually benign condition, CMN may be associated with neonatal systemic-metabolic or postoperative complications. High-level surgical expertise, careful neonatological intensive care and histopathological/cytogenetic-molecular definition are the cornerstones for the optimal management of patients. This should also include an individualized follow-up, oriented to the early detection of any possible recurrences or associated anomalies and to a better quality of life of children and their families.
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Neoplasias Renais , Nefroma Mesoblástico , Poli-Hidrâmnios , Nascimento Prematuro , Recém-Nascido , Lactente , Criança , Gravidez , Humanos , Feminino , Masculino , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/cirurgia , Seguimentos , Qualidade de Vida , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , RecidivaRESUMO
Background: VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condition has been called VACTERL-H syndrome. Most cases of VACTERL-H have been reported postnatally, as VACTER-H syndrome is difficult to diagnose prenatally. Case Presentation: Here, we report a case of VACTERL-H syndrome in a dichorionic and diamniotic twin diagnosed prenatally by ultrasonography and confirmed postnatally by three-dimensional computed tomography (3D CT). A 34-year-old multiparous female was referred to our institution at 31 + 3 weeks gestation for suspected fetal ventriculomegaly. Detailed examinations using two-dimensional and Doppler ultrasounds revealed hydrocephalus, bilateral dysplastic upper arms, radial aplasia, unilateral pulmonary agenesis, dextrocardia with right atrial enlargement, a unilateral hypoplastic ectopic kidney, a single umbilical artery, a tracheoesophageal fistula with a small stomach, polyhydramnios, and anal atresia. Findings from the postnatal 3D CT aligned with the prenatal diagnosis, showing upper-limb agenesis, dextrocardia with pulmonary hypoplasia, tracheoesophageal fistula, imperforate anus, and colon dilatation. The affected 1390-g male twin had an unaffected 1890-g female twin sister and a healthy 6-year-old brother. Conclusions: Upon encountering fetuses with multiple anomalies, including ventriculomegaly, a small stomach with polyhydramnios, an abnormally positioned heart, and upper-limb abnormalities, clinicians should perform systematic ultrasonographic examinations to detect associated anomalies and be aware of VACTERL-H syndrome.
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Dextrocardia , Hidrocefalia , Poli-Hidrâmnios , Fístula Traqueoesofágica , Gravidez , Humanos , Feminino , Masculino , Adulto , Criança , Gêmeos Dizigóticos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/genética , Ultrassonografia Pré-NatalRESUMO
OBJECTIVES: There is a paucity of literature providing evidence-based guidelines for the management of large placental chorioangioma (≥ 4 cm in diameter). The objectives of this study were to compare outcomes between patients managed expectantly and those undergoing in-utero intervention and to describe the different in-utero techniques used for cessation of blood flow to the tumor and the associated outcome. METHODS: This was a retrospective cohort study of 34 patients referred for the management of large placental chorioangioma in a single center between January 2011 and December 2022, who were managed expectantly or underwent in-utero intervention. In-utero intervention was performed when the fetus developed any signs of impending compromise, including high combined cardiac output (CCO), worsening polyhydramnios or abnormal fetal Doppler velocimetry findings. Interventions included radiofrequency ablation (RFA), interstitial laser ablation (ILA) and single-port or two-port fetoscopic laser photocoagulation (FLP). Treatment selection was dependent on the proximity of the tumor to the umbilical cord insertion (UCI) and placental location. The two-port technique was performed in patients with a chorioangioma with large feeding vessels (≥ 3 mm) located in the posterior placenta, in which one port was used for occlusion using bipolar forceps and the other port was used for laser photocoagulation of the feeding vessels downstream. The single-port technique was used for chorioangioma with small feeding vessels (< 3 mm) located in the posterior placenta. ILA or RFA was performed in cases with an anterior placenta. Supportive treatments, including amnioreduction and intrauterine transfusion (IUT), were performed for worsening polyhydramnios and suspected fetal anemia based on middle cerebral artery Doppler flow studies, respectively. Comparative statistical analysis between cases undergoing expectant management vs in-utero intervention was performed. Descriptive details were provided for patients who underwent in-utero intervention. RESULTS: Thirty-four cases of large chorioangioma were evaluated, of which 25 (73.5%) were managed expectantly and nine (26.5%) underwent intervention. The frequency of polyhydramnios was significantly higher in the intervention group compared with the expectant-management group (66.7% vs 8.0%, P < 0.001). The live-birth rate among expectantly managed cases with large chorioangioma was significantly higher compared with that in cases that underwent in-utero intervention (96.0% vs 62.5%, P = 0.01). In the intervention group, preoperative CCO was elevated in all cases with available information and preoperative hydrops was present in 33.3% (3/9) of cases. One patient experienced fetal demise following IUT prior to planned FLP. Among the remaining eight patients, four underwent two-port FLP, two underwent single-port FLP, one underwent ILA and one underwent both ILA and RFA. All three cases in which hydrops was present at the time of intervention resulted in fetal demise. CONCLUSIONS: In-utero interventions aimed at cessation of blood flow in the feeding vessels are a therapeutic option for the management of cases with large chorioangioma. The two-port percutaneous technique appears to improve the efficiency of FLP when a large chorioangioma with large feeding vessels is located in the posterior placenta. We propose that in-utero interventions for large chorioangioma should be initiated prior to the development of fetal hydrops. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
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Hemangioma , Doenças Placentárias , Poli-Hidrâmnios , Gravidez , Humanos , Feminino , Placenta/cirurgia , Placenta/patologia , Poli-Hidrâmnios/etiologia , Poli-Hidrâmnios/patologia , Estudos Retrospectivos , Doenças Placentárias/diagnóstico por imagem , Doenças Placentárias/cirurgia , Morte Fetal , Lasers , Hemangioma/diagnóstico por imagem , Hemangioma/cirurgia , EdemaRESUMO
Amniotic fluid (AF) is an integral part of the fetal environment and is essential for fetal growth and development. Pathways of AF recirculation include the fetal lungs, swallowing, absorption through the fetal gastrointestinal tract, excretion through fetal urine production, and movement. In addition to being a marker for fetal health, adequate AF is necessary for fetal lung development, growth, and movement. The role of diagnostic imaging is to provide a detailed fetal survey, placental evaluation, and clinical correlation with maternal conditions to help identify causes of AF abnormalities and thereby enable specific therapy. Oligohydramnios prompts evaluation for fetal growth restriction as well as genitourinary issues, including renal agenesis, multicystic dysplastic kidneys, ureteropelvic junction obstruction, and bladder outlet obstruction. Premature preterm rupture of membranes should also be clinically excluded as a cause of oligohydramnios. Clinical trials evaluating amnioinfusion are underway as a potential intervention for renal causes of oligohydramnios. Most cases of polyhydramnios are idiopathic, with maternal diabetes being a common cause. Polyhydramnios prompts evaluation for fetal gastrointestinal obstruction and oropharyngeal or thoracic masses, as well as neurologic or musculoskeletal anomalies. Amnioreduction is performed only for maternal indications such as symptomatic polyhydramnios causing maternal respiratory distress. Polyhydramnios with fetal growth restriction is paradoxical and can occur with maternal diabetes and hypertension. When these maternal conditions are absent, this raises concern for aneuploidy. The authors describe the pathways of AF production and circulation, US and MRI assessment of AF, disease-specific disruption of AF pathways, and an algorithmic approach to AF abnormalities. ©RSNA, 2023 Online supplemental material is available for this article. Quiz questions for this article are available through the Online Learning Center.
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Diabetes Mellitus , Oligo-Hidrâmnio , Poli-Hidrâmnios , Recém-Nascido , Feminino , Gravidez , Humanos , Líquido Amniótico/diagnóstico por imagem , Líquido Amniótico/metabolismo , Oligo-Hidrâmnio/diagnóstico por imagem , Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/metabolismo , Retardo do Crescimento Fetal , Placenta , Diabetes Mellitus/metabolismoRESUMO
BACKGROUND: Glial heterotopia is a rare congenital developmental malformation that presents as tumor-like lesions of the nerve tissue that grow outside the nervous system, but are not true tumors. At present, most cases are reported in neonates and children and are very rarely found in fetuses. The present report describes a case of fetal pharyngeal glial heterotopia and associated imaging findings to better understand the disease in the future. CASE PRESENTATION: A 32-year-old pregnant woman was admitted to the hospital with polyhydramnios. An ultrasound examination revealed a hypoechoic mass in the neck of the fetus. Magnetic resonance imaging showed a well-defined mass with significant compression of the esophagus and airway. The amniotic fluid index was approximately 40 cm. Considering that difficulty swallowing and breathing may occur due to compression by the mass after birth, tracheotomy and mass resection should be performed immediately. The difficulty of the tumor resection procedure and the nature of the tumor are both factors affecting the prognosis of the fetus. The pregnant woman eventually chose to induce labor. The fetal pharyngeal mass was then resected and its pathological examination indicated pharyngeal glial heterotopia. CONCLUSIONS: Polyhydramnios due to pharyngeal glial heterotopia is extremely rare and accurate prenatal diagnosis is challenging. Clinical diagnosis of glial heterotopia in preterm fetuses is difficult. Therefore, understanding glial heterotopia is helpful to improve clinical treatment options.
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Poli-Hidrâmnios , Recém-Nascido , Gravidez , Feminino , Criança , Humanos , Adulto , Poli-Hidrâmnios/diagnóstico por imagem , Poli-Hidrâmnios/etiologia , Diagnóstico Pré-Natal , Feto , Cuidado Pré-NatalRESUMO
BACKGROUND: Oligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number variation (CNV) remains unclear. METHODS: We retrospectively analyzed 428 cases with an abnormal level of amniotic fluid, comprising of 139 cases of single ultrasound findings (SU group) and 289 cases of multiple ultrasound findings (MU group), by CNV sequencing (CNV-Seq) and followed their pregnancy outcomes. RESULTS: The overall detection rate of clinically significant findings was 8%, with 5% in the SU group and 11% in MU group. Besides, 18 microdeletion/microduplication syndromes were detected, with the highest rate of renal cysts and diabetes syndrome (22%, 4/18). Also, the rate of termination of pregnancy in MU group was much higher than that in the SU group (29% vs. 10%, ***p < 0.001), and in the MU-oligohydramnios subgroup, it was the highest (34%), regardless of cases with chromosomal anomaly and lost to follow-up. CONCLUSION: Our results showed that the abnormal level of amniotic fluid, especially combined with other ultrasound abnormalities, is closely related to chromosomal abnormalities and genetic CNVs. CNV-Seq may be useful in investigating pregnancies with an abnormal amniotic fluid level.
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Oligo-Hidrâmnio , Poli-Hidrâmnios , Gravidez , Feminino , Humanos , Poli-Hidrâmnios/diagnóstico por imagem , Poli-Hidrâmnios/genética , Oligo-Hidrâmnio/diagnóstico por imagem , Oligo-Hidrâmnio/genética , Variações do Número de Cópias de DNA , Estudos Retrospectivos , Aberrações Cromossômicas , Líquido AmnióticoRESUMO
BACKGROUND: The pathogenesis of bronchopulmonary dysplasia (BPD) is multifactorial, and there are limited data about prenatal exposures and risk of BPD. STUDY DESIGN: Our study performed parallel analyses using a logistic regression model in a cohort of 4527 infants with data from a curated registry and using a phenome wide association study (PheWAS) based on ICD9/10-based phecodes. We examined 20 prenatal exposures from a neonatal intensive care unit (NICU) curated registry database related to pregnancy and maternal health as well as 94 maternal diagnosis phecodes with a PheWAS analysis. RESULT: In both the curated registry and PheWAS analyses, polyhydramnios was associated with an increased risk of BPD (OR 5.70, 95% CI 2.78-11.44, p = 1.37 × 10-6). CONCLUSION: Our data suggest that polyhydramnios may be a clinical indicator of premature infants at increased risk for bronchopulmonary dysplasia. Combining curated registry data with PheWAS analysis creates a valuable tool to generate hypotheses. IMPACT: Polyhydramnios was significantly associated with bronchopulmonary dysplasia in both a curated registry and by ICD coding analysis with a phenome wide association study (PheWAS). Preterm polyhydramnios may be a clinical indicator of infants at increased risk for developing bronchopulmonary dysplasia after preterm birth. Combining curated registry with PheWAS analysis creates a valuable tool to generate hypotheses about perinatal risk factors and morbidities associated with preterm birth.
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Displasia Broncopulmonar , Poli-Hidrâmnios , Nascimento Prematuro , Lactente , Gravidez , Feminino , Recém-Nascido , Humanos , Displasia Broncopulmonar/etiologia , Poli-Hidrâmnios/diagnóstico por imagem , Idade Gestacional , Fatores de Risco , Estudos RetrospectivosRESUMO
We systematically delineated the prenatal phenotype, and obstetrical and neonatal outcomes of the RASopathy cardio-facio-cutaneous (CFC) syndrome. A comprehensive, retrospective medical history survey was distributed to parents of children with confirmed CFC in collaboration with CFC International, Inc. Data were collected on CFC gene variant, maternal characteristics, pregnancy course, delivery, and neonatal outcomes with the support of medical records. We identified 43 individuals with pathogenic variants in BRAF (81%), MEK1 (14%), or MEK2 (5%) genes. The median age was 8.5 years. Hyperemesis gravidarum, gestational diabetes, gestational hypertension, and preeclampsia occurred in 5/43 (12%), 4/43 (9%), 3/43 (7%), and 3/43 (7%) of pregnancies, respectively. Second and third trimester ultrasound abnormalities included polyhydramnios, macrocephaly, macrosomia, and renal and cardiac abnormalities. Delivery occurred via spontaneous vaginal, operative vaginal, or cesarean delivery in 15/42 (36%), 7/42 (16%), and 20/42 (48%), respectively. Median gestational age at delivery was 37 weeks and median birth weight was 3501 grams. Germline pathogenic vaiants had mutiple congenital consequences including polyhydramnios, renal and cardiac abnormalities, macrosomia, and macrocephaly on second and third trimester ultrasound. Elevated rates of operative delivery and neonatal complications were also noted. Understanding and defining a prenatal phenotype may improve prenatal prognostic counseling and outcomes.
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Displasia Ectodérmica , Cardiopatias Congênitas , Megalencefalia , Poli-Hidrâmnios , Humanos , Gravidez , Feminino , Estudos Retrospectivos , Macrossomia Fetal , Proteínas Proto-Oncogênicas B-raf/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Fácies , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologiaRESUMO
OBJECTIVE: In cases of suspected neonatal airway obstruction, the ex-utero intrapartum treatment (EXIT) procedure is used to secure the airway while a fetus remains on placental circulation. We report indications and outcomes from all EXIT procedures at a tertiary obstetric unit between 1997 and 2020. METHOD: Retrospective cohort study with data collected from maternal and neonatal medical records. RESULTS: Indications for EXIT procedures were micrognathia (n = 7), lymphatic malformations (n = 5), cervical teratomas (n = 4), goiters (n = 2), and intra-oral epulis (n = 1). Infants with a fetal teratoma were delivered earliest due to 75% presenting with preterm premature rupture of membranes or preterm labor. Low birth weight was found in 75% of these neonates; they did not survive 1 year. Intubation at EXIT occurred for 58% (n = 11) of babies, and six neonates required a tracheostomy. In four cases of fetal micrognathia, the inferior facial angle (IFA) was noted to be <5th centile. All but one micrognathia case had polyhydramnios. Of the total cohort, 75% of neonates were alive at 1 year. CONCLUSION: Risks for neonatal demise with EXIT include fetal teratoma, low birth weight, and prematurity. Micrognathia has become an increasingly valid indication for the procedure. The combination of polyhydramnios and IFA <5% correlates well with severe airway obstruction and suggests consideration of EXIT.
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Obstrução das Vias Respiratórias , Micrognatismo , Poli-Hidrâmnios , Teratoma , Obstrução das Vias Respiratórias/epidemiologia , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/cirurgia , Procedimentos para Tratamento Intraparto ex utero , Feminino , Humanos , Recém-Nascido , Placenta , Gravidez , Prognóstico , Estudos Retrospectivos , Teratoma/cirurgiaRESUMO
Objective: To investigate the prenatal diagnosis and prognostic factors of fetal sacrococcygeal teratoma (SCT). Methods: A retrospective analysis was performed on 41 pregnant women who were diagnosed with fetal SCT by prenatal ultrasound at the Women's Hospital, Zhejiang University School of Medicine from January 2014 to September 2021. The prenatal imaging features and pregnancy outcomes, including tumor volume to fetal weight ratio (TFR), proportion of solid tumor, tumor growth rate (TGR), fetal hydrops, placentomegaly and polyhydramnios were analyzed. Receiver operating characteristic (ROC) curve was used to determine the critical values of TFR and TGR for predicting adverse fetal outcomes. Results: (1) Among the 41 pregnant women with fetal SCT, the diagnostic gestational week of ultrasound was (24.2±2.9) weeks (range: 18-28 weeks). Among them, 1 case progressed to fetal hydrops and induced labor at 22 weeks of gestation, 1 case developed intrauterine death and induced labor at 29 weeks of gestation, and 39 pregnancies continued until delivery. Among the 39 cases of continued pregnancy, 1 case underwent cesarean section at 31 weeks of gestation due to malignant polyhydramnios and increased fetal cardiothoracic ratio in the third trimester, 1 case underwent cesarean section at 32 weeks of gestation due to fetal heart failure, and 1 case underwent cesarean section at 32 weeks of gestation due to fetal heart failure and hydrops. The other 36 cases underwent surgical resection of tumor within 3 weeks after birth with good prognosis. (2) TFR>0.12 before 28 weeks of gestation could predict poor fetal prognosis, with a sensitivity of 100.0%, a specificity of 86.1% and an area under curve (AUC) of 0.922 (P<0.01). Among the fetuses with TFR>0.12, 5/10 had poor prognosis, while the fetuses with TFR≤0.12 all had good prognosis (100%,31/31), and the difference between the two groups was statistically significant (P<0.001). (3) TGR>48 cm3/week could predict poor fetal prognosis with a sensitivity of 100.0%, a specificity of 78.3% and an AUC of 0.880 (P<0.05). (4) Among the 28 SCT fetuses delivered in our hospital, the incidence rate of poor fetal prognosis was 0 (0/20) in those with solid tumor component<50%, and 5/8 in those with solid tumor component ≥50%, and the difference between the two groups was statistically significant (P<0.01). The incidence rate of poor fetal prognosis was 2/2 in those with placentomegaly (all with fetal hydrops), and 12% (3/26) in those without placentomegaly. The risk of poor fetal prognosis was 8.67 times higher in those with placentomegaly than those without placentomegaly, and the difference between the two groups was statistically significant (P<0.05). The incidence rate of poor fetal prognosis in those with polyhydramnios was 3/7, and 10% (2/21) in those without polyhydramnios, but there was no statistically significant difference between the two groups (P>0.05). Conclusion: TFR combined with solid tumor morphology, TGR, and presence of placentomegaly could predict the adverse pregnancy outcomes of fetal SCT.
Assuntos
Insuficiência Cardíaca , Neoplasias Pélvicas , Poli-Hidrâmnios , Teratoma , Cesárea/efeitos adversos , Feminino , Feto , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/patologia , Humanos , Hidropisia Fetal/diagnóstico por imagem , Poli-Hidrâmnios/patologia , Gravidez , Diagnóstico Pré-Natal/métodos , Prognóstico , Estudos Retrospectivos , Região Sacrococcígea/diagnóstico por imagem , Região Sacrococcígea/patologia , Região Sacrococcígea/cirurgia , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Ultrassonografia Pré-Natal/métodosRESUMO
BACKGROUND: Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac myosin molecule, resulting in distal muscle weakness as the predominant manifestation. Here we describe two unrelated patients harboring an in-frame deletion in the MYH7 gene that is predicted to result in deletion of a single amino acid (p.Glu500del) in the head domain of ß-cardiac myosin. Both patients display an unusual skeletal myopathy phenotype with congenital axial stiffness and muscular hypertonus, but no cardiac involvement. RESULTS: Clinical data, MRI results and histopathological data were collected retrospectively in two unrelated boys (9 and 3.5 years old). Exome sequencing uncovered the same 3-bp in-frame deletion in exon 15 (c.1498_1500delGAG) of the MYH7 gene of both patients, a mutation which deletes a highly conserved glutamate residue (p.Glu500del) in the relay loop of the head domain of the ß-cardiac myosin heavy chain. The mutation occurred de novo in one patient, whereas mosaicism was detected in blood of the father of the second patient. Both boys presented with an unusual phenotype of prenatal polyhydramnios, congenital axial stiffness and muscular hypertonus. In one patient the phenotype evolved into an axial/proximal skeletal myopathy without distal involvement or cardiomyopathy, whereas the other patient exhibited predominantly stiffness and respiratory involvement. We review and compare all patients described in the literature who possess a variant predicted to alter the p.Glu500 residue in the ß-cardiac myosin head domain, and we provide in-silico analyses of potential effects on polypeptide function. CONCLUSION: The data presented here expand the phenotypic spectrum of mutations in the MYH7 gene and have implications for future diagnostics and therapeutic approaches.
Assuntos
Doenças Musculares , Poli-Hidrâmnios , Aminoácidos/metabolismo , Miosinas Cardíacas/genética , Miosinas Cardíacas/metabolismo , Feminino , Humanos , Músculo Esquelético/metabolismo , Doenças Musculares/genética , Mutação , Cadeias Pesadas de Miosina/genética , Cadeias Pesadas de Miosina/metabolismo , Poli-Hidrâmnios/metabolismo , Poli-Hidrâmnios/patologia , Estudos RetrospectivosRESUMO
INTRODUCTION: Management of neonates with long gap esophageal atresia (LGEA) is one of the most challenging situations facing pediatric surgeons. Delayed anastomosis after internal traction for esophageal lengthening was reported as a useful technique for long gap cases. Additionally, the use of near-infrared (NIR) fluorescence imaging with indocyanine green (ICG) has gained popularity in pediatric surgery, especially for blood perfusion validation. We report a novel technique for safe and secure anastomosis for LGEA in the neonatal period using internal traction and ICG-guided NIR fluorescence. PATIENT AND SURGICAL TECHNIQUE: A pregnant woman with polyhydramnios was admitted to the department of obstetrics in our hospital. At 29 weeks of gestation, ultrasound showed mild polyhydramnios and absence of the fetal stomach. A male neonate was born at 38 weeks of gestation with 21 trisomy. EA (Gross type A) was diagnosed based on an X-ray study that showed the absence of gastric bubble with a nasogastric tube showing the "coil-up" sign. Thoracoscopic internal traction and laparoscopic gastrostomy were performed on day 4 after birth. We confirmed the distance between the upper pouch and lower pouch on X-ray. On day 16 after birth, thoracoscopic anastomosis was performed. We successfully performed esophageal anastomosis without tearing the esophageal wall. Blood perfusion of the upper and lower pouch was validated after anastomosis using ICG-guided NIR fluorescence. CONCLUSION: Delayed anastomosis for LGEA in the neonatal period using internal traction and ICG-guided NIR fluorescence is safe and feasible.
Assuntos
Atresia Esofágica , Poli-Hidrâmnios , Anastomose Cirúrgica/métodos , Criança , Atresia Esofágica/diagnóstico por imagem , Atresia Esofágica/cirurgia , Estudos de Viabilidade , Feminino , Gastrostomia , Humanos , Verde de Indocianina , Recém-Nascido , Masculino , Tração/métodos , Resultado do TratamentoRESUMO
Up to 20% of monochorionic diamniotic twin pregnancies can be complicated with twin-to-twin transfusion syndrome (TTTS). This complication is diagnosed by ultrasound demonstrating amniotic fluid discordance between both amniotic sacs, with polyhydramnios in the recipient's sac and oligohydramnios in the donor's, secondary to an imbalance in blood volume exchange between twins. Ultrasound evaluation of the amniotic fluid volume, bladder filling, and assessment of fetal Doppler parameters provide the basis for classification of TTTS, allowing severity assessment. The Quintero's staging system provides a standardized prenatal estimate on the risk of intrauterine fetal demise of one or both twins and the need for fetoscopic laser coagulation of placental vascular anastomoses or delivery depending on the gestational age. However, a proportion of TTTS cases may present without a linear progressive deterioration and no ultrasound signs of preceding staging, in rare situations, they arise even without amniotic fluid discordance. Thus, these unusual clinical presentations of TTTS have long been grouped into the category of atypical TTTS. In this review, we show the clues for diagnosis and management of different atypical cases of TTTS highlighting their underlying mechanism to improve the clinical understanding of such atypical situations, avoid misdiagnosis of TTTS, and allow a timely referral to a fetoscopic center.
Assuntos
Transfusão Feto-Fetal , Poli-Hidrâmnios , Feminino , Gravidez , Humanos , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/terapia , Placenta , Fetoscopia , Gravidez de Gêmeos , Poli-Hidrâmnios/diagnóstico por imagem , Poli-Hidrâmnios/etiologia , Poli-Hidrâmnios/terapia , Idade GestacionalRESUMO
BACKGROUND: Congenital mesoblastic nephromas mainly present as asymptomatic abdominal masses, but some present hematuria, hypertension or hypercalcemia. Neonatal dyspnea in an early-birth neonate due to rapid tumor growth is reported here for the first time. CASE PRESENTATION: A renal tumor and polyhydramnios were detected by ultrasonography of a male fetus at 32 weeks and 3 days of gestation. The mother had abdominal distension due to the polyhydramnios and signs of imminent premature birth. Amniocentesis was performed and the signs of imminent preterm birth subsided, but growth of the renal tumor was noted as a potential cause of respiratory dysfunction. Cesarean section was performed at 36 weeks and 2 days of gestation. His birthweight was 2638 g and his 1 and 5 min APGAR scores were 2 and 4 points, respectively. There was no spontaneous breathing at birth and he had remarkable abdominal distention. He underwent cardiopulmonary resuscitation. After circulation stabilized, emergency surgery was performed because of progressive hypoxemia and respiratory acidosis. Laparotomy revealed a huge tumor arising from the right kidney and right nephrectomy was performed. Histopathological examination led to diagnosis of congenital mesoblastic nephroma. The respiratory condition and circulatory dynamics stabilized after the pressure on the thorax from the tumor was relieved by surgery. The postoperative course was uneventful. No recurrence or complications have been observed in the 36 months since the surgery. CONCLUSIONS: Congenital mesoblastic nephroma can rapidly increase in size from the fetal period and may cause respiratory oncologic emergency, although there is relatively good prognosis.
Assuntos
Doenças do Recém-Nascido , Neoplasias Renais , Nefroma Mesoblástico , Poli-Hidrâmnios , Nascimento Prematuro , Cesárea/efeitos adversos , Feminino , Humanos , Recém-Nascido , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Masculino , Nefroma Mesoblástico/congênito , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/cirurgia , Poli-Hidrâmnios/etiologia , GravidezRESUMO
The aim of our manuscript is to report of a successful perinatal outcome after treatment of acute polyhydramnios caused by duodenal atresia. A 34-year-old G3P1 was referred due to polyhydramnios in the 30th week of pregnancy. Ultrasound revealed polyhydramnios, amniotic fluid index (AFI) 28, and a double bubble sign that indicated duodenal atresia and dilatated oesophagus. In the 32nd week of gestation, the volume of amniotic fluid increases, AFI 35, along with symptoms of dyspnea and abdominal pain. Due to the clinical picture and the early gestational age, it was decided to perform an amnioreduction. In the 36th week of gestation cesarean section was performed. The baby was taken for exploratory laparotomy and found to have a simultaneous complete duodenal atresia and annular pancreas with associated dilated the first portion of the duodenum and the stomach. A side-to-side duodenoduodenostomy via single-layer hand-sewn anastomosis was performed over a transanastamotic feeding tube (TAFT). The postoperative course was uneventful. Amnioreduction is useful and safe in the treatment of acute polyhydramnios caused by duodenal atresia and thus has a significant role in prolonging gestation until fetal maturity.
Assuntos
Poli-Hidrâmnios , Gravidez , Humanos , Feminino , Adulto , Poli-Hidrâmnios/etiologia , Poli-Hidrâmnios/terapia , Resultado da Gravidez , Cesárea/efeitos adversos , Líquido AmnióticoRESUMO
We describe a unique case of a pregnancy with fetal Prader-Willi syndrome (PWS). A 40-year-old pregnant woman prenatally presented with polyhydramnios, decreased fetal movements, fetal growth restriction with normal Doppler study, and fetal cardiac rhabdomyoma, a possible new sonographic markers for PWS, at 31 weeks of gestation. The newborn had hypotonia and feeding difficulty. Molecular genetic study showed a normal copy number of the 15q11.2-q13.1 chromosomal region but hypermethylation pattern of this region, indicating PWS. Other than the combination of polyhydramnios, fetal growth restriction, and decreased fetal movements, cardiac rhabdomyoma was detected and possibly associated with PWS. In conclusion, PWS should be listed in differential diagnoses if fetuses having the following perinatal factors: polyhydramnios, decreased fetal movements, and growth restriction. Finally, cardiac rhabdomyoma, observed in this case, might possibly be associated with PWS, although further studies to confirm are needed.