Hidrops fetal no inmune

El hidrops fetal no inmune es una complicación que ocurre durante el embarazo en la que se acumula líquido en los tejidos del feto, lo que puede provocar insuficiencia cardíaca y otros problemas de salud graves. La incidencia es baja (1:5000 embarazos). Las causas pueden incluir infecciones virales, trastornos genéticos, alteraciones del sistema cardiovascular fetal. El diagnóstico se realiza mediante ecografía prenatal y si se sospecha hidrops no inmune se pueden realizar pruebas adicionales para determinar la causa subyacente, como análisis de sangre (pruebas serológicas para infecciones), pruebas genéticas y análisis de líquido amniótico. El pronóstico va a depender de la gravedad de la afección, la causa subyacente y la respuesta al tratamiento. Pese a que el hidrops fetal no inmune no suele ser una afección recurrente, es importante que las mujeres embarazadas se sometan a controles prenatales regulares y se comuniquen con su médico si tienen el antecedente. Esto ayudará a detectar cualquier problema fetal lo antes posible y planificar el tratamiento adecuado. (provisto por Infomedic International)

Nonimmune fetal hydrops fetalis is a complication that occurs during pregnancy in which fluid accumulates in the fetal tissues, which can lead to heart failure and other serious health problems. The incidence is low (1:5000 pregnancies). Causes may include viral infections, genetic disorders, alterations of the fetal cardiovascular system. Diagnosis is made by prenatal ultrasound and if non-immune hydrops is suspected, additional tests may be performed to determine the underlying cause, such as blood tests (serological tests for infections), genetic testing and amniotic fluid analysis. The prognosis will depend on the severity of the condition, the underlying cause, and the response to treatment. Although nonimmune fetal hydrops fetalis is not usually a recurrent condition, it is important for pregnant women to have regular prenatal checkups and to contact their physician if they have the condition. This will help detect any fetal problems as early as possible and plan appropriate treatment. (provided by Infomedic International)

Hemorragia materno-fetal posterior a amniocentesis y cordocentesis

Objetivo . Comparar la frecuencia y cantidad de hemorragia materno-fetal posterior a la amniocentesis y cordocentesis. Diseño . Estudio de casos y controles. Métodos . Gestantes con embarazos simples sin anomalías fetales sometidas a amniocentesis para determinación del cariotipo fetal (16 a 20 semanas de gestación) o cordocentesis (20 a 30 semanas de embarazo) en el periodo de enero de 2017 a mayo de 2022. Principales medidas de estudio. Características generales del procedimiento, resultados de la prueba de Kleihauer-Brown-Betke y concentraciones séricas de alfafetoproteína materna. Resultados . La muestra del estudio fue de 305 pacientes. La amniocentesis se realizó en 165 mujeres y la cordocentesis en 140 casos. La hemorragia materno-fetal de novo se observó en 8 pacientes (4,8%) después de la amniocentesis y en 41 pacientes (29,3%) después de la cordocentesis. Las concentraciones de alfafetoproteína sérica aumentaron en 24 casos (14,5%) después de la amniocentesis y en 55 casos (39,3%) después de la cordocentesis (p < 0,05). Luego de la cordocentesis se observó mayor volumen promedio de hemorragia maternofetal, elevación de valores individuales de volumen e incrementos significativos en la hemorragia materno-fetal severa (más de 5 mL de eritrocitos fetales) y de pérdida del volumen sanguíneo fetoplacentario total (p < 0,05). Conclusión . Estos resultados muestran que tanto la amniocentesis como la cordocentesis aumentan el riesgo de hemorragia materno-fetal. Sin embargo, la amniocentesis guiada por ecografía tiene menor riesgo de producir hemorragia y la isoinmunización Rh resultante, comparada con la cordocentesis.

Objective : To compare the frequency and amount of maternal-fetal hemorrhage following amniocentesis and cordocentesis. Design : Case-control study. Institución. Hospital Central "Dr. Urquinaona", Maracaibo, Venezuela. Methods : Pregnant women with singleton pregnancies without fetal anomalies undergoing amniocentesis for fetal karyotyping (16-20 weeks' gestation) or cordocentesis (20- 30 weeks' pregnancy) in the period January 2017-May 2022. Main study outcomes: General characteristics of the procedure, Kleihauer-Brown-Betke test results, and maternal serum alpha-fetoprotein concentrations. Results : The study sample was 305 patients. Amniocentesis was performed in 165 women and cordocentesis in 140 cases. De novo maternal-fetal hemorrhage was observed in 8 patients (4.8%) after amniocentesis and in 41 patients (29.3%) after cordocentesis, de novo maternalfetal hemorrhage was observed in 8 patients (4.8%). Serum alpha-fetoprotein concentrations increased in 24 cases (14.5%) after amniocentesis and in 55 cases (39.3%) after cordocentesis (p < 0.05). After cordocentesis, higher mean maternalfetal hemorrhage volume, elevation of individual volume values and significant increases in severe maternal-fetal hemorrhage (more than 5 mL of fetal erythrocytes) and total fetoplacental blood volume loss were observed (p < 0.05). Conclusion : These results show that both amniocentesis and cordocentesis increase the risk of maternal-fetal hemorrhage. However, ultrasound-guided amniocentesis has a lower risk of producing hemorrhage and resulting Rh isoimmunization compared to cordocentesis.

Higroma quístico retronucal como marcador de anomalías cromosómicas en el primer trimestre de la gestación - Actualización

Objetivo. Evaluar la asociación del higroma quístico retronucal (HQR) y anomalías cromosómicas fetales. Métodos. Estudio observacional retrospectivo de 323 fetos del primer trimestre con riesgo para anomalías cromosómicas diagnosticados por ecografía entre las 11 y 13,6 semanas. Resultados. De 323 fetos con riesgo para anomalías cromosómicas, se encontró 132 casos de anomalías cromosómicas (40,9%). Se identificaron 145 casos de HQR; en 64 (56,6%) se realizó biopsia de vellosidades coriales y en 81 (43,5%) amniocentesis, hallándose cariotipo anómalo en 82 (56,6%). De 88 fetos con HQR aislado, 33 casos (37,5%) tuvieron alguna anomalía cromosómica; en 58 fetos con HQR asociado a otros hallazgos anormales, se encontró que en 43 fetos (74,1%) hubo anomalías cromosómicas, y de ellos 24 (41,4%) tenían onda de flujo (OVF) anormal del ductus venoso, 17 (29,3%) tenían edema generalizado, 8 casos (13,8%) con cardiopatía, 7 (12,1%) ausencia del hueso nasal. Los valores predictivos del HQR fueron: sensibilidad (S) 62,1%, especificidad (E) 67%, valor predictivo positivo (VPP) 56,6%, valor predictivo negativo (VPN) 71,9%, p<0,001, OR: 3,3. El HQR asociado a otros hallazgos anormales, tuvo los siguientes valores predictivos: S 52,4%, E 76,2%, VPP 76,2%, OR: 3,5, LR+: 2,2, p<0,000. El edema generalizado y el ductus venoso anormal tuvieron los valores predictivos más altos: VPP 88,2% y 83,3%, respectivamente. Las anomalías cromosómicas encontradas con mayor frecuencia fueron: T21 (53,7%), monosomía X (18,3%), T18 (15,9%), T13 (6,1%). Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas, siendo mayor cuando está asociado a otros hallazgos ecográficos anormales. La identificación ecográfica del HQR en el tamizaje prenatal del primer trimestre debería ser indicación para recomendar una prueba diagnóstica para anomalías cromosómicas.

Objective: To evaluate the association of retronucal cystic hygroma (RCH) and fetal chromosomal abnormalities. Methods: Retrospective observational study of 323 first trimester fetuses at risk for chromosomal abnormalities diagnosed by ultrasound between 11 and 13.6 weeks. Results: Of 323 fetuses at risk for chromosomal abnormalities, 132 cases of chromosomal abnormalities were found (40.9%). A total of 145 cases of RCH were identified; chorionic villus biopsy was performed in 64 (56.6%) and amniocentesis in 81 (43.5%); an abnormal karyotype was found in 82 (56.6%). Of 88 fetuses with isolated RCH, 33 (37.5%) had some chromosomal abnormality. In 58 fetuses with RCH associated with other abnormal findings, chromosomal abnormalities were found in 43 fetuses (74.1%) and of these 24 (41.4%) had abnormal ductus venosus flow wave (DVF), 17 (29.3%) had generalized edema, 8 cases (13.8%) with cardiopathy, 7 (12,1%) with absent nasal bone. The predictive values of RCH were sensitivity (S) 62.1%, specificity (Sp) 67%, positive predictive value (PPV) 56.6%, negative predictive value (NPV) 71.9%, p<0.001, OR: 3.3. RCH associated with other abnormal findings were S 52.4%, Sp 76.2%, PPV 76.2%, OR: 3.5, LR+: 2.2, p<0.000. Generalized edema and abnormal ductus venosus had the highest predictive values: PPV 88.2% and 83.3%, respectively. The most frequently found chromosomal abnormalities were T21 (53.7%), monosomy X (18.3%), T18 (15.9%), T13 (6.1%). Conclusions: Retronucal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, being higher when associated with other abnormal ultrasound findings. Ultrasonographic identification of RCH in first trimester prenatal screening should be an indication to recommend diagnostic testing for chromosomal abnormalities.

Value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening / 中国基层医药

Objective:To investigate the value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening.Methods:A total of 1667 pregnant women who were at a higher risk of having a baby with Down's syndrome who received Down's syndrome screening in the First People's Hospital of Datong between January 2020 and March 2021 were prospectively analyzed. After detection of cell-free fetal DNA in maternal peripheral blood, pregnant women who were at a higher risk of having a baby with Down's syndrome decided whether to accept amniocentesis for fetal karyotype. Then follow-up was performed for collecting related information. Finally, detection results of cell-free fetal DNA in maternal peripheral blood, fetal karyotype results and pregnancy outcomes were analyzed.Results:The positive predictive value of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 21, trisomy 18, and trisomy 13 and chromosome abnormality were 100.0%, 100.0%, 0.0% and 66.7%, respectively. The sensitivity and total specificity of detecting cell-free fetal DNA in maternal peripheral blood were 100.0% and 99.8%, respectively. The false positive rate of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 13 and chromosome abnormality was 0.12% and 0.06%, respectively.Conclusion:A high degree of coincidence between detection results of cell-free fetal DNA in maternal peripheral blood and fetal karyotype results can be used as a prenatal screening for Down's syndrome. This has certain guiding significance for invasive prenatal diagnosis through amniocentesis-based fetal karyotype analysis.

Prenatal diagnosis of monogenic skeletal disorders in 22 pedigrees / 中华内分泌代谢杂志

Objective:To evaluate the clinical value of prenatal molecular diagnostic technology in preventing hereditary diseases through analysis of prenatal diagnostic characteristics in 22 monogenic skeletal disorders pedigrees.Methods:This study retrospectively analyzed prenatal molecular diagnostic results of 22 pedigrees with monogenic skeletal disorders who were admitted to Department of Osteoporosis and Bone Diseases in our hospital from January 2014 to July 2021.Results:Among 22 pedigrees, there were 10 pedigrees with X-linked hypophosphatemic rickets due to PHEX gene mutations, in which 8 fetuses were found to carry pathogenic variants; 6 pedigrees with osteopetrosis, including 3 cases of CLCN7 gene mutation, 2 TCIRG1 gene mutation, and 1 CTSK gene mutation, were detected to have 2 affected fetuses and 1 carrier. There were 4 cases of osteogenesis imperfecta, including 2 cases of COL1A1 gene mutation, 1 case of COL1A2 gene mutation, and 1 case of SERPINF1 gene mutation, in which 1 affected fetus and 1 carrier were found; only one case of osteoarthritis with mild chondrodysplasia caused by COL2A1 gene mutation was found to harbor pathogenic variant in fetus; 1 case of hypophosphatasia due to ALPL gene mutation was not detected to carry pathogenic variant in fetus. By the time of follow-up, all 12 affected fetuses were terminated, and the remaining 10 fetuses except for one case still in pregnancy were born in good condition.Conclusion:Prenatal molecular diagnosis may confirm whether the fetus carries pathogenic variants at the first and second trimesters. For monogenic skeletal disorders that comply with Mendel′s law of separation, prenatal diagnosis can be determined by calculating the probability of recurrence of offspring. In addition, for families with de novo mutations in the offspring, it is necessary to pay attention to whether there are mosaic mutations in the parents.

CONGENITAL CYTOMEGALOVIRUS INFECTION AND ITS EFFECTS ON FETUS A CASE REPORT

Cytomegalovirus infection during pregnancy is very common. Vertical transmission is possible in all three trimester of pregnancy. 1 in 150 children are born with congenital Cytomegalovirus infection. It is the most common infective cause of mental handicap in newborn, Congenital Cytomegalovirus infection can cause sensorineural deafness, developmental delay and even fetal death. We present a case of Isolated bilateral ventriculomegaly at 33 weeks 4 days diagnosed as congenital Cytomegalovirus infection. Careful maternal and fetal monitoring and timely intervention leads to good fetal outcome.

Alteraciones citogenéticas en gestantes con edad avanzada. Granma. 2016-2018 / Cytogenetic alterations in pregnant women with advanced age. Granma 2016-2018 / Alterações citogenéticas em gestantes com idade avançada. Granma 2016-2018

RESUMEN Uno de los riesgos asociados al embarazo es la edad materna avanzada, la cual es considerada en nuestro país, a partir de los 35 años de edad. En la actualidad, constituye el principal motivo de indicación para el diagnóstico prenatal citogenético (DPC). Se realizó un estudio descriptivo transversal, con el objetivo de describir la frecuencia de las alteraciones citogenéticas en gestantes con avanzada edad en la provincia Granma en el período de 2016 a 2018. La muestra estuvo constituida por 803 gestantes de 37 años y más a las que se le realizó el diagnóstico prenatal citogenético por amniocentesis entre las 16 y 20 semanas de acuerdo a la fecha de la última menstruación (FUM) o por ultrasonido del primer trimestre en las gestantes con FUM dudosa. Los estudios citogenéticos en el líquido amniótico dirigidos a mujeres de edad materna avanzada están establecidos en nuestro país a las gestantes que tengan≥ 37 años ya que se considera el grupo poblacional de mayor riesgo. En el período estudiado se realizaron 803 estudios citogenéticos. Durante estos tres años de trabajo se obtuvo un 2,6% de resultados positivos, dentro de ellos 57,1% corresponden a aberraciones numéricas y 42,9% a estructurales. Bayamo (52,4%) resultó el municipio con mayor número de casos positivos.

ABSTRACT One of the risks associated with pregnancy is advanced maternal age, which is considered in our country, from 35 years of age. At present, it constitutes the main reason for indication for cytogenetic prenatal diagnosis (CPD). A descriptive cross-sectional study was carried out, with the objective of describing the frequency of cytogenetic alterations in pregnant women with advanced age in the province of Granma in the period from 2016 to 2018. The sample consisted of 803 pregnant women aged 37 years and older at whom the cytogenetic prenatal diagnosis was made by amniocentesis between 16 and 20 weeks according to the date of the last menstruation (FUM) or by ultrasound of the first trimester in pregnant women with doubtful FUM. Cytogenetic studies in amniotic fluid aimed at women of advanced maternal age are established in our country to pregnant women who are ≥ 37 years old since it is considered the population group with the highest risk. In the period studied, 803 cytogenetic studies were performed. During these three years of work, 2.6% of positive results were obtained, 57.1% of which correspond to numerical aberrations and 42.9% to structural ones. Bayamo (52.4%) was the municipality with the highest number of positive cases.

RESUMO Um dos riscos associados à gravidez é a idade materna avançada, considerada em nosso país a partir dos 35 anos de idade. Atualmente, constitui o principal motivo de indicação para o diagnóstico pré-natal citogenético (DPC). Foi realizado um estudo transversal descritivo, com o objetivo de descrever a frequência de alterações citogenéticas em gestantes com idade avançada na província de Granma no período de 2016 a 2018. A amostra foi composta por 803 gestantes com 37 anos ou mais de idade, nas quais o diagnóstico citogenético pré-natal foi realizado por amniocentese entre 16 e 20 semanas, de acordo com a data da última menstruação (FUM) ou por ultrassom do primeiro trimestre em gestantes com FUM duvidoso. Estudos citogenéticos em líquido amniótico direcionados a mulheres em idade materna avançada são estabelecidos em nosso país para gestantes com idade ≥ 37 anos, uma vez que é considerado o grupo populacional de maior risco. No período estudado, foram realizados 803 estudos citogenéticos. Durante esses três anos de trabalho, foram obtidos 2,6% de resultados positivos, 57,1% dos quais correspondem a aberrações numéricas e 42,9% a estruturais. Bayamo (52,4%) foi o município com o maior número de casos positivos.

Amniocentesis para estudio citogenético y sus principales indicaciones en La Habana, Cuba (2007 - 2016) / Amniocentesis for Cytogenetic Study and Its Main Indications in Havana, Cuba (2007 - 2016)

RESUMEN Introducción: El diagnóstico prenatal de alteraciones cromosómicas en Cuba se inició en La Habana en 1984, mediante análisis del líquido amniótico obtenido por amniocentesis en el segundo trimestre del embarazo. En 1987 se introdujo el diagnóstico por análisis de vellosidades coriónicas en el primer trimestre, como parte de un subprograma dentro del Programa Nacional de Diagnóstico y Prevención de Enfermedades Genéticas dirigido por el Centro Nacional de Genética Médica. Objetivo: Demostrar que la edad materna avanzada sigue siendo la principal indicación de estudio citogenético en las gestantes de alto riesgo en la provincia de La Habana. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte longitudinal que abarcó 12 909 historias clínicas de gestantes a las que se realizaron amniocentesis, indicadas en la consulta del Centro Provincial de Genética Médica de la Habana, en el período comprendido entre enero 2007 y diciembre 2016. Se analizaron diferentes parámetros relacionados con la cantidad de casos por años según diferentes criterios y se calculó la sensibilidad, especificidad, valor predictivo positivo y valor predictivo negativo de la edad materna como predictor de la ocurrencia de anomalías cromosómicas. Resultados: El principal criterio de indicación del estudio invasivo lo constituyó la edad materna avanzada con 82 por ciento de los casos, mostrando una sensibilidad de 86 por ciento y una tasa de falsos positivos que alcanzó el 95,85 por ciento. Sería de utilidad actualizar el subprograma de diagnóstico prenatal mediante herramientas que permitan recalcular el riesgo a priori, a un riesgo individualizado y reclasificar la población de alto riesgo genético. Conclusiones: A partir del estudio realizado se puede concluir que la avanzada edad materna constituye el principal criterio de indicación para estudio citogenético por amniocentesis en las gestantes de alto riesgo de La Habana(AU)

ABSTRACT Introduction: The prenatal diagnosis of chromosomal abnormalities in Cuba began in Havana in 1984, by analyzing the amniotic fluid by amniocentesis in the second trimester of pregnancy. In 1987, diagnosis by chorionic villus analysis was introduced in the first trimester, as part of a subprogram within the National Program for the Diagnosis and Prevention of Genetic Diseases led by the National Center for Medical Genetics. Objective: To validate that advanced maternal age continues to be the main feature to propose a cytogenetic study in high-risk pregnant women in the province of Havana. Methods: A descriptive, retrospective, longitudinal-section study was conducted in 12,909 medical records of pregnant women who underwent amniocentesis, proposed in the consultation of Havana Provincial Center for Medical Genetics, from January 2007 to December 2016. Different parameters related to the number of cases per year were analyzed according to different criteria and sensitivity, specificity, positive predictive value and negative predictive value of maternal age were calculated as a predictor of the occurrence of chromosomal abnormalities. Results: The main criterion for indicating this invasive study was the advanced maternal age in 82 percent of cases, showing 86 percent of sensitivity and 95.85 percent false positive rate. It would be useful to update the prenatal diagnosis subprogram using tools that allow the risk to be recalculated a priori to an individualized risk and to reclassify the population in high genetic risk. Conclusions: From this study it can be concluded that advanced maternal age constitutes the main criterion for indicating amniocentesis cytogenetic study in high-risk pregnant women in Havana(AU)

Resultados después de la implementación del test de DNA fetal libre circulante en sangre materna (DNA-lc) para cribado de cromosomopatías fetales / Results after the implementation of the cell-free fetal DNA test in maternal plasma (cfDNA) in screening for fetal aneuploidies

Objetivo: Evaluar la disminución de la tasa de técnicas invasivas de diagnóstico prenatal tras la introducción del cribado contingente de cromosomopatías con test de DNA fetal libre circulante (DNA-lc)y demostrar que este método de cribado es coste-efectivo. Método: estudio observacional prospectivo y estudio de coste efectividad. Primero se describen los resultados del cribado combinado en dos tiempos de primer trimestre desde febrero de 2008 a junio 2018 diez primeros años del hospital): 21744 cribados realizados de un total de 23000 partos. En abril de 2016 se implementa un modelo de cribado contingente de cromosomopatías con test de DNAlc (se oferta el test a pacientes con resultado de riesgo intermedio en el cribado combinado). En segundo lugar se analizan los resultados tras la implementación del test y se comparan dos períodos de tiempo con y sin cribado contingente (año 2015 con el período abril 2016 hasta marzo de 2019). Resulta-dos: disminución total de las técnicas invasivas del 54% por disminución de la tasa de amniocentesis, manteniéndose constante la tasa de biopsias coriales. La tasa de pérdidas fetales por técnica invasiva alcanza el 0%. Usamos seis indicadores de calidad para evaluar el test. Se hanahorrado 70200 euros con la implementación del test de DNA-lc. Discusión: el test de DNAlc resulta útil en el cribado contingente de cromosomopatías porque reduce la tasa de amniocentesis por indicación de alto riesgo y además es coste efectivo. El cribado combinado de primer trimestre es la técnica de elección para el cribado de aneuploidias. El test de DNAlc no puede sustituir al cribado combinado porque es caro, pero resulta muy útil si se realiza cribado contingente a la población seleccionada de riesgo intermedio.

Salud respiratoria y del sueño infantil tras una amniocentesis en el segundo trimestre / Child's respiratory and sleep health following mid-trimester amniocentesis

Objetivo. Investigar las tasas de trastornos respiratorios y del sueño en los niños cuyas madres se sometieron a una amniocentesis. Materiales y métodos. Se incluyó a niños cuyas madres se sometieron a una amniocentesis en el segundo trimestre (entre las 16 y las 20 semanas) y otros sin procedimiento invasivo (controles). Resultados. Se anallizó a 50 niños en el grupo de amniocentesis y a 47 controles. Hubo mayor incidencia de trastornos del sueño en el grupo de amniocentesis: 30 casos (60 %) frente a 11 controles (23,4 %) (p = 0,001). En el grupo de amniocentesis, 7 niños (14%) tenían asma; en el grupo de referencia, 1 niño (2,1 %) (p = 0,032).Conclusión. Podría haber una asociación entre la amniocentesis en el segundo trimestre, el asma y los trastornos del sueño en los niños. Se requieren estudios futuros y analizar los efectos a largo plazo de las pruebas invasivas.

Objective. The aim was to investigate the rates of respiratory and sleep disturbances in infants whose mothers experienced amniocentesis.Material and methods. Infants whose mothers have undergone midterm amniocentesis (between 16 and 20 weeks) and no invasive procedure (controls) were enrolled.Results. The study analyzed 50 infants whose mothers have undergone amniocentesis (amniocentesis group) and 47 controls. Amniocentesis group had higher incidence of sleep disturbances: 30 cases (60 %), compared with 11 controls (23.4 %) (P = 0.001). In the amniocentesis group there were 7 children (14 %) with asthma, while in the control group, asthma was confirmed in 1 child (2.1 %) (P = 0.032).Conclusion. Our data triggers the hypothesis that associations between midterm amniocentesis, child's asthma and sleep isturbances may exist. These preliminary results reveal the importance of further studies and the need for the analysis of long term effects of invasive testing.

Condução da toxoplasmose gestacional / Management of gestational toxoplasmosis

A toxoplasmose é uma doença proveniente do Toxoplasma gondii, um protozoário que tem os felinos como seu hospedeiro definitivo e os mamíferos e aves como seu hospedeiro intermediário. Tem um curso benigno e autolimitado quando acomete um indivíduo imunocompetente, no entanto a infecção durante a gestação acarreta até 50% de chance de toxoplasmose congênita, podendo causar danos severos ao feto. A virulência dos genótipos encontrados nas Américas Central e do Sul é a mais alta, comparada a Europa e América do Norte, tendo a doença um comportamento mais agressivo. Os estudos relatam a diminuição da infecção fetal em até 60% com o uso da espiramicina, usada ainda na profilaxia. Este artigo discute sobre a triagem materna pré-natal e sua necessidade, a profilaxia e o tratamento da infecção fetal ainda intraútero, com o objetivo de diminuir a transmissão vertical e as sequelas neonatais com suas implicações ao longo da vida.(AU)

Toxoplasmosis it is a disease originating from Toxoplasma gondii, a protozoan that has felines at as ultimate host and mammals and birds at as intermediate host. Has a benign and self-limiting course when affects immunocompetent individual, however, infection during pregnancy leads 50% chance of congenital toxoplasmosis and can cause severe damage to the fetus. The virulence of genotypes found in Central and South America is the highest compared to Europe and North America, having the disease a more aggressive behavior. Studies report a reduction in fetal infection 60% with the use spiramycin still used for prophylaxis. This article discusses prenatal maternal screening, prophylaxis and treatment of fetal infection still in utero with the objective of decreasing vertical transmission and neonatal sequelae with their lifelong implications.(AU)

Application of amniotic fluid cell inheritance and re-culture in cases of amniotic fluid with abnormal traits / 中国基层医药

Objective@#To evaluate amniotic fluid cell inheritance and re-culture in cases of amniotic fluid with abnormal traits.@*Methods@#From January 2014 to December 2018, 15 cases of amniotic fluid with abnormal traits in the First Affiliated Hospital of Anhui Medical University were selected in amniocentesis.Amniotic fluid cells were routinely seeded and cultured for 10 days, then subcultured into other culture bottles.The number of cells and karyotyping after harvesting were counted.@*Results@#Seven of 15 cases of amniotic fluid color were slightly darker, 3 cases were pink as water washed meat, and 5 cases were light brown or brown.The average number of cells in original bottles was (2.40±5.87)×105/mL, the average number of cells in inheritance bottles was (2.76±0.64)×106/mL.All 15 samples in the cell inheritance bottles got satisfactory results in cell karyotype analysis.@*Conclusion@#Amniotic fluid cell inheritance and re-culture can increase the number of cells in amniotic fluid cell culture and improve the success rate of karyotyping.

Prenatal diagnosis of mosaic trisomy 2: a case report / 中华围产医学杂志

We reported a case of mosaic trisomy 2.The patient was a 29-year-old gravida who underwent amniocentesis at 20 weeks of gestation because of high risk of trisomy-21 in the first trimester screening.The test result revealed a karyotype of 47,XN,+2[10]/46,XX[40].At 26 gestational weeks,the fetus was found severe fetal growth restriction and oligohydramnios which was considered to be at risk of mosaic trisomy 2.The pregnancy was terminated at 27+ gestational weeks.The fetus had obviously abnormal appearances,including dolichocephaly,low-set ears,and micromandible.Autopsy was not performed due to the parents' refusal.

Application of amniotic fluid cell inheritance and re－culture in cases of amniotic fluid with abnormal traits / 中国基层医药

Objective To evaluate amniotic fluid cell inheritance and re －culture in cases of amniotic fluid with abnormal traits.Methods From January 2014 to December 2018,15 cases of amniotic fluid with abnormal traits in the First Affiliated Hospital of Anhui Medical University were selected in amniocentesis .Amniotic fluid cells were routinely seeded and cultured for 10 days,then subcultured into other culture bottles.The number of cells and karyotyping after harvesting were counted.Results Seven of 15 cases of amniotic fluid color were slightly darker ,3 cases were pink as water washed meat ,and 5 cases were light brown or brown.The average number of cells in original bottles was (2.40 ±5.87)×105／mL, the average number of cells in inheritance bottles was (2.76 ±0.64)×106／mL.All 15 samples in the cell inheritance bottles got satisfactory results in cell karyotype analysis .Conclusion Amniotic fluid cell inheritance and re－culture can increase the number of cells in amniotic fluid cell culture and improve the success rate of karyotyping.

Obstetrical Outcomes of Amniocentesis or Chorionic Villus Sampling in Dichorionic Twin Pregnancies

BACKGROUND: Under certain situations, women with twin pregnancies may be counseled to undergo invasive prenatal diagnostic testing. Chorionic villus sampling and amniocentesis are the two generally performed invasive prenatal diagnostic tests. Studies comparing procedure-related fetal loss between first-trimester chorionic villus sampling and second-trimester amniocentesis in twin pregnancies are limited. This study aimed to evaluate the procedure-related fetal loss and the obstetrical outcomes of these two procedures, chorionic villus sampling and amniocentesis in twin pregnancies. METHODS: The data from dichorionic-diamniotic twin pregnancies on which first-trimester chorionic villus sampling (n = 54) or second-trimester amniocentesis (n = 170) was performed between December 2006 and January 2017 in a single center were retrospectively analyzed. The procedure-related fetal loss was classified as loss of one or all fetuses within 4 weeks of procedure, and overall fetal loss was classified as loss of one or all fetuses during the gestation. The groups were compared with respect to the procedure-related and obstetrical outcomes. RESULTS: The difference in proportion of procedure-related fetal loss rate (1.9% for chorionic villus sampling vs. 1.8% for amniocentesis; P = 1.000) and the overall fetal loss rate (7.4% for chorionic villus sampling vs. 4.7% for amniocentesis; P = 0.489) between the two groups was not significant. The mean gestational ages at delivery were not statistically significant. CONCLUSION: Both the overall fetal loss rate and the procedure-related fetal loss rate of chorionic villus sampling and amniocentesis in dichorionic twin pregnancies had no statistical significance. Both procedures can be safely used individually.

Factores de riesgo asociados a la diabetes mellitus tipo ii en indígenas de latinoamerica, revisión de literatura 2000-2016

La Diabetes Mellitus (DM) es una enfermedad que se presenta cuando el páncreas no puede fabricar insulina suficiente y genera un factor de riesgo en la salud cardiovascular de quien la padece. Objetivo: Identificar los factores de riesgo asociados a la diabetes Mellitus tipo II (DMII), en indígenas de Latinoamérica a la luz de la literatura, con el fin de aportar información que contribuya a mejorar las estrategias de vigilancia en esta población. Materiales y métodos: Revisión de literatura publicada entre los años 2000 y 2016 en países latinoamericanos, en bases de datos como Scielo, Science Direct, Pubmed y Lilacs; 32 artículos cumplieron con los criterios de selección, en tres idiomas: inglés, español y portugués. La búsqueda se realizó con los términos de lenguaje libre, Decs y Mesh. Resultados: Se puede asociar los riesgos metabólicos de las razas no indígenas frente a las indígenas, como factores predisponentes para el padecimiento de la DM II. Conclusiones: Los diferentes autores coinciden en afirmar, los cambios y culturización de las comunidades indígenas de Latinoamérica hacen que se aumente el riesgo en el padecimiento de la DM II.

Diabetes Mellitus (DM) is a disease that occurs when the pancreas is not able to produce enough insulin and generates a risk factor in the cardiovascular health of those who suffer it. Objective: To identify the risk factors associated with type II diabetes mellitus (DMII) in Latin America Indigenous people according to the literature, in order to provide information that contributes to improving the surveillance strategies in this population. Materials and Methods: Literature review in Latin American countries and published between 2000 and 2016, in databases such as Scielo, Science Direct, Pubmed and Lilacs; 32 articles complied with the selection criteria, in three languages English, Spanish and Portuguese. The search was made with the terms of free language, Decs and Mesh. Results: It is possible to associate the metabolic risks of the non-indigenous races with the indigenous ones, as predisposing factors to developing DM II. Conclusions: different authors agree in affirming that, the changes and acculturation of the indigenous communities of Latin America make the risk to suffering DM II arises.

Diabetes Mellitus (DM) é uma doença que ocorre quando o pâncreas não consegue fabricar insulina suficiente e gera um fator de risco na saúde cardiovascular dos pacientes. Objetivo: Identificar os fatores de risco associados ao diabetes mellitus tipo II (DMII) em povos indígenas da América Latina à luz da literatura, a fim de fornecer informações que contribuam para melhorar as estratégias de vigilância nessa população. Materiais e Métodos: Revisão de literatura em países da América Latina publicada entre 2000 e 2016, em bases de dados como Scielo, Science Direct, Pubmed e Lilacs; 32 artigos preencheram os critérios de seleção, em três idiomas: inglês, espanhol e português. A busca foi feita com os termos de linguagem livre, Decs e Mesh. Resultados: É possível associar os riscos metabólicos das raças não indígenas com aqueles dos indígenas, como fatores predisponentes ao padecimento do DM II. Conclusões: Os diferentes autores concordam em afirmar que as mudanças e aculturação das comunidades indígenas da América Latina fazem com que o risco no padecimento do DM II seja aumentado.

Diagnóstico prenatal de inversión pericéntrica del cromosoma cinco de novo en una paciente con gestación a término sin complicaciones posteriores / Prenatal diagnosis of pericentric de novo inversion in the fifth chromosome in a patient with term birth without posterior complications

Resumen Los avances en las técnicas de citogenética han permitido detectar con mayor precisión alteraciones cromosómicas tanto estructurales como de número. La amniocentesis genética es una prueba invasiva que se realiza entre la semana 16 y 20 de gestación que nos permite detectar distintas alteraciones cromosómicas. Presentamos un caso de una paciente que se le realizó a las 18 semanas de gestación la amniocentesis por edad materna avanzada (39 años), evidenciándose en el cariotipo una inversión pericéntrica del cromosoma 5. Se procedió a realizar cariotipos a los padres, ambos normales. De acuerdo con este resultado a la paciente se le realizó ecosonogramas para detectar si el feto presentaba malformaciones y se realizó asesoramiento genético. A continuación, se hizo evaluación del recién nacido y seguimiento durante 4 años para evaluar fenotipo y desarrollo neurológico. Como se comentará, el cromosoma 5 codifica para muchos genes y es responsable de muchas patologías, de las cuales este paciente no presentó ninguna.

Abstract Advances in cytogenetic techniques have made it possible to, more accurately, detect both structural and number chromosomal alterations. Genetic amniocentesis is an invasive test that is performed between week 16 and 20 of gestation that allows us to detect chromosomal alterations. We present a case of a patient who underwent amniocentesis by advanced maternal age (39 years) at 18 weeks of gestation, showing a pericentric inversion of chromosome 5 in the karyotype and proceeded to perform karyotypes of the parents, both normal. According to this result, the patient was screened for fetal malformations and genetic counseling. Newborn evaluation and 4-year follow-up to assess phenotype and neurological development. As discussed, chromosome 5 codes for many genes and is responsible for many pathologies that this patient did not present.

Higroma quístico retronucal como marcador de anomalías cromosómicas en el primer trimestre de la gestación / Retronuchal cystic hygroma in the first trimester of pregnancy as a marker of chromosomal abnormalities

Background: Nuchal cystic hygroma is the most frequently identified marker of chromosomal anomalies during first trimester screening. Objective: To determine the association of the nuchal cystic hygroma with chromosomal anomalies diagnosed with karyotyping done between the first and second trimesters of pregnancy. Design: Retrospective study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Patients. Fetuses with nuchal cystic hygroma. Methods: The data were obtained from the ILSAR database between August 2007 and May 2018, the cases diagnosed by ultrasound from week 11 to 13.6. Nuchal cystic hygroma was defined as the presence of septated liquid content in the nuchal axial section with a thickness above the 95th percentile value for increased nuchal translucency value for the crown-rump length. The karyotype was obtained between the first and second trimesters from material collected by chorionic villus sampling (BVS) or amniocentesis (AMC). Main outcome measures: Karyotyping results were compared between cases with cystic hygroma alone and cases with cystic hygroma in addition to another marker. Results: Out of 459 invasive procedures performed in fetuses with high risk for chromosomal anomalies based on the Fetal test database of Spain, there were 162 cases of chromosomal anomalies (35.3%), and 104 cases of nuchal cystic hygroma (22.7%). Nuchal cystic hygroma was associated with a higher frequency of chromosomal abnormalities, compared to fetuses without cystic hygroma (52.9% vs. 30.1%; p<0.001). Out of 61 cases of hygroma alone, 42.3% had chromosomal anomalies, and when the hygroma was associated with other markers (fetal hydrops, abnormal ductus venosus, heart disease), 65.1% had chromosomal abnormalities. There was a statistically significant difference (p=0.003) for the presence of monosomy X between the group with cystic hygroma alone and the group with hygroma and fetal hydrops. There was no difference in hygroma thickness between the groups with and without chromosomal abnormalities. Conclusions: Nuchal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, and its identification during prenatal screening may be considered an indication to a diagnostic test. When cystic hygroma is associated to flow abnormalities of the ductus venosus or fetal hydrops, chromosomal abnormalities significantly increase. The hygroma associated with hydrops was primarily linked to monosomy X, while the hygroma associated with abnormal flow velocity waveforms of the ductus venosus was linked to trisomy 21.

Antecedentes. El higroma quístico retronucal es el marcador de anomalías cromosómicas identificado con mayor frecuencia en el tamizaje del primer trimestre. Objetivo. Evaluar la asociación del higroma quístico retronucal y anomalías cromosómicas diagnosticadas con el cariotipo, entre el primer y segundo trimestre del embarazo. Diseño. Estudio retrospectivo. Institución. Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Pacientes. Fetos con higroma quístico retronucal. Método. Estudio de fetos con higroma quístico retronucal, obtenidos de la base de datos de ILSAR, entre agosto del 2007 y mayo del 2018, diagnosticados por ecografía entre las 11 y 13,6 semanas. El higroma quístico retronucal se definió como la presencia de contenido líquido tabicado en el corte axial retronucal con un grosor mayor al percentil 95 del valor de translucencia nucal aumentada para la longitud corona-nalga. Se obtuvo el cariotipo entre el primer y segundo trimestre en material obtenido por biopsia de vellosidades coriales (BVC) o amniocentesis (AMC). Principales medidas de resultados. Los resultados del cariotipo fueron comparados entre los casos de higroma quístico solo y los casos que tuvieron higroma y adicionalmente otro marcador. Resultados. De un total de 459 procedimientos invasivos realizados en fetos con alto riesgo para anomalías cromosómicas en base al Fetal test de España, hubieron 162 casos de anomalías cromosómicas (35,3%) y se identificó 104 casos de higroma quístico retronucal (22s7%). El hallazgo de higroma quístico retronucal se asoció con mayor presencia de anomalías cromosómicas, comparado con los fetos sin higroma quístico (52,9% vs. 30,1%; p<0,001). De 61 casos de higroma solo, 42,3% tenían anomalía cromosómica, y cuando el higroma estaba asociado a otros marcadores (hidrops fetal, ductus venoso anormal, cardiopatía, ausencia de hueso nasal), hubo 65,1% de anomalías cromosómicas. Hubo diferencia estadística significativa (p=0,003) para la presencia de monosomía X, entre el grupo con higroma solo y el de higroma + hidrops fetal. No hubo diferencia en el grosor del higroma entre el grupo con y sin anomalía cromosómica. Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas. Su identificación en el tamizaje prenatal podría ser indicación para recomendar una prueba diagnóstica. Cuando se asocia a anormalidad del flujo del ductus venoso o hidrops fetal, aumentan significativamente las anomalías cromosómicas. El higroma asociado con hidrops se vinculó mayoritariamente a la monosomía X, mientras que el higroma asociado con onda de velocidad de flujo-OVF de ductus venoso anormal a la trisomía 21.

Amniocentesis precoz y biopsia de vellosidad corial. Pérdidas fetales y anomalías congénitas en un grupo de gestantes brasileñas / Early amniocentesis and chorionic villus biopsy. Fetal losses and congenital anomalies in a group of Brazilian pregnant women

Resumen En el Instituto de Medicina Fetal y Genética Humana de São Paulo se ofrecen, a las gestantes que tienen un riesgo aumentado para anomalías cromosómicas, diferentes técnicas, entre ellas, la Biopsia de Vellosidad Corial Transabdominal (BVCTA) y la Amniocentesis Precoz (AP). El objetivo del presente estudio es realizar una comparación de la frecuencia de pérdidas fetales y anomalías congénitas presentadas en cada uno de los procedimientos, ambos realizados por los mismos operadores, en la misma edad gestacional (12-14 6/7 semanas) y bajo un abordaje transabdominal. Fueron analizadas retrospectivamente 432 AP y 418 BVCTA. Todos los procedimientos de colecta fueron monitorizados por ultrasonografía. La frecuencia de pérdidas fetales espontáneas fue del 4,9 % en AP y de 5,3 % en BVCTA, una diferencia no significativa. No se encontraron diferencias significativas entre los dos procedimientos al comparar las frecuencias de pérdidas en cada semana de gestación. Sangrado y pérdida de líquido amniótico fueron más frecuentes en AP que en la BVCTA. Esa diferencia fue significativa en el caso de la pérdida de líquido amniótico. En algunos casos este hallazgo se relacionó con pérdida fetal. La incidencia de prematuridad y bajo peso al nacimiento no difirió significativamente entre los dos procedimientos. La mayor frecuencia de problemas respiratorios registrada en AP no fue significativa en comparación con BVCTA. No se observó diferencia significativa en la incidencia de anomalías músculo-esqueléticas. La amniocentesis después de catorce semanas presenta un bajo riesgo de pérdida fetal o anomalías congénitas. La BVCTA, debe ser realizada alrededor de la semana doce de gestación.

Abstract In the Institute of Fetal Medicine and Human Genetics of São Paulo are offered, pregnant women have an increased risk for chromosomal abnormalities, different techniques, among them, Transabdominal Corial Vellosity Biopsy (BVCTA) and Precocious Amniocentesis (AP). The objective of this study is to compare the frequency of Hepatitis and congenital anomalies presented in all procedures, both performed by operators, in the same gestational age (12-14 6/7 weeks) and under a transabdominal approach. 432 AP and 418 BVCTA were analyzed retrospectively. All collection procedures were monitored by ultrasonography. The spontaneous fetal frequency was 4.9% in AP and 5.3% in BVCTA, a non-significant difference. There is no difference in results compared to gestation times. Bleeding and loss of amniotic fluid were more frequent in AP than in BVCTA. That difference was significant in the case of the loss of amniotic fluid. In some cases, this finding was related to fetal loss. The incidence of prematurity and birth weight without difference between the two procedures. The highest frequency of respiratory problems recorded in AP was not significant compared to BVCTA. There is no significant difference in the incidence of musculoskeletal abnormalities. Amniocentesis after 14 weeks presents a low risk of fetal loss or congenital anomalies. The BVCTA should be close to the twelfth week of gestation.

Consecuencias y complicaciones de la amniocentesis. Experiencia de dos centros latinoamericanos de medicina materno fetal / Results and complications of amniocentesis. Experience of two centers of Latin American fetal maternal medicine

Resumen Objetivo Describir las indicaciones, complicaciones y repercusiones de la amniocentesis. Materiales y métodos Estudio descriptivo, observacional y transversal de las amniocentesis efectuadas de 2009 a 2015 en dos unidades de medicina materno fetal de Bogotá, Colombia. Se evaluaron las características de las pacientes, indicación de los procedimientos y las complicaciones. Además, los hallazgos se compararon con reportes de diferentes estudios de la bibliografía internacional. Resultados Se incluyeron 748 amniocentesis. La mediana de edad de las pacientes fue de 29 años (límites 23 y 37). La indicación más común fue el estudio genético en 508 casos (67.9%). Se reportaron 89 (17.5%) casos de cromosomopatías, y de éstas la de mayor frecuencia fue la trisomía 21 en 41 pacientes (46%). La mayor parte de las complicaciones se registró en embarazos que superaron las 20 semanas. La pérdida del embarazo y la amenaza de parto pretérmino atribuibles a la amniocentesis fueron de 0.9 y 2.5%, respectivamente. Conclusión Las características de la amniocentesis permitieron conocer sus repercusiones, complicaciones, tasa de pérdida real o factores asociados, con miras a explorar los factores maternos y fe tales en embarazos únicos y múltiples en dos unidades de Medicina Materno Fetal latinoamericanas.

Abstract Objective The purpose of this paper is to describe the indications, complications and results of amniocentesis performed in two fetal maternal medicine units in Bogota Colombia between 2009 and 2015. Materials and methods Cross-sectional observational descriptive study; 770 amniocentesis performed during 6 years (2009 - 2015) with evaluation of the characteristics of the patients, procedures and complications observed were evaluated. In addition, the findings were compared with reports from different studies of the world literature. Results 748 amniocentesis data were included, statistically analyzing the clinical characteristics of the patients and the results, indications and complications of the procedure. The median age was 29 years (RIQ: 23-37). The most common indication was genetic in 508 cases (67.9%). 89 (17.5%) cases of chromosomopathies were reported, with trisomy 21 being more frequently observed in 41 patients (46%). The loss of pregnancy and the threat of preterm labor attributable to amniocentesis were 0.94% and 2.54%, respectively. Conclusion The characteristics of amniocentesis allow us to know statistics of outcomes, complications, actual loss rate or associated factors, with a view to exploring both maternal and fetal factors in single and multiple pregnancies in two units of Latin American Fetal Maternal Medicine.