Effects of Maternal Iodine Status during Pregnancy and Lactation on Maternal Thyroid Function and Offspring Growth and Development: A Prospective Study Protocol for the Ideal Breast Milk Cohort

BACKGROUND: Iodine is an intrinsic element of thyroid hormone, which is essential for childhood growth and development. The Ideal Breast Milk (IBM) cohort study aims to evaluate the effects of maternal iodine status during pregnancy and lactation on maternal thyroid function, offspring growth and development, and offspring thyroid function. METHODS: The IBM cohort study recruited pregnant women from Seoul National University Hospital between June 2016 and August 2017, followed by enrollment of their offspring after delivery. For the maternal participants, iodine status is evaluated by urinary iodine concentration (UIC) and dietary records in the third trimester and at 3 to 4 weeks and 12 to 15 months postpartum. For the child participants, cord blood sampling and UIC measurements are performed at birth. At 3 to 4 weeks of age, UIC and breastmilk iodine concentrations are measured. At 12 to 15 months of age, growth and development are assessed and measurements of UIC, a thyroid function test, and ultrasonography are performed. RESULTS: A total of 198 pregnant women in their third trimester were recruited. Their mean age was 35.1±3.5 years, and 78 (39.4%) of them were pregnant with twins. Thirty-three (16.7%) of them had a previous history of thyroid disease. CONCLUSION: Korea is an iodine-replete area. In particular, lactating women in Korea are commonly exposed to excess iodine due to the traditional practice of consuming brown seaweed soup postpartum. The study of the IBM cohort is expected to contribute to developing guidelines for optimal iodine nutrition in pregnant or lactating women.

Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

Caso Clínico: Enfermedad Hemolítica Perinatal Secundaria a Isoinmunización Anti-D / Case Report: Hemolytic Perinatal Disease secundary to isoimmunization

INTRODUCCIÓN: La enfermedad hemolítica perinatal causada principalmente por la producción de anticuerpos irregulares anti D, es una enfermedad que por mucho tiempo fue de etiología y pronóstico desconocido, en la actualidad un manejo oportuno ha aumentado las expectativas de sobrevida. CASO CLÍNICO: Paciente femenino de 27 años de edad, multípara 1, embarazo de 27+1 semanas de gestación, RH negativo sensibilizada con Rogham después de postparto anterior, anemia fetal y diagnóstico reciente de diabetes gestacional. Los exámenes de laboratorio mostraron la velocidad máxima del flujo de la arteria cerebral media fuera de rangos normales, se hospitalizó para cordocentesis y transfusión intraútero. EVOLUCIÓN: Se realizó transfusión intrauterina, se evidenciaron parámetros normales, y se controló bisemanalmente. A las 29+1 semanas se realizó una segunda transfusión intrauterina, a las 33+4 semanas de gestación y durante control de rutina, se detectó por tercera vez aumento de la velocidad máxima del flujo de la arteria cerebral media, se interrumpió la gestación, se obtuvo recién nacido (RN) de sexo masculino, peso 2130 gramos, APGAR 6-8. CONCLUSIÓN: El uso de la velocidad máxima del flujo de la arteria cerebral media nos ayuda a realizar un diagnóstico certero no invasivo y un tratamiento oportuno de enfermedad hemolítica perinatal. Las transfusiones intrauterinas, lograron prolongar el embarazo por un periodo de 6 semanas, permitiendo un incremento de peso cercano a los mil gramos, desde el diagnóstico de nemia severa hasta su resolución.(au)

BACKGROUND: The Hemolytic Perinatal Disease is a disease unknown etiology and prognosis, actually a timely management has increased expectations of survival, is caused by the production of irregular antibodies anti D. CASE REPORT: 27-year-old female patient, multiparous 1, pregnancy of 27 + 1 weeks of gestation, RH negative sensitized with Rogham after postpartum, fetal anemia and recent diagnosis of gestational diabetes. Laboratory tests show maximum speed of the middle cerebral artery outside normal ranges, it was decided to hospitalize for cordocentesis and intrauterine transfusion. EVOLUTION: Intrauterine transfusion was performed, normal parameters were evident, and it was monitored biweekly. At 29 + 1 weeks, a second intrauterine transfusion was performed, at 33 + 4 weeks of gestation and during routine control, a third time increase of maximum speed of the middle cerebral artery was detected, gestation was interrupted, newborn male, weight 2130 grams, APGAR 6-8. CONCLUSION: The use of maximum speed of the middle cerebral artery helps us to make an accurate non-invasive diagnosis and timely treatment of the hemolytic perinatal disease. Intrauterine transfusions were able to prolong the pregnancy for a period of 6 weeks, allowing a weight increase of around one thousand grams, from the diagnosis of severe anemia to its resolution.(AU)

Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río / Results of an invasive prenatal study for the diagnosis of aneuploidy at Hospital Sótero del Río

ANTECEDENTES: Las aneuploidías y malformaciones congénitas son causa importante de morbi-mortalidad perinatal e infantil en Chile. OBJETIVO: Evaluar la realidad local del diagnóstico genético antenatal para mejorar el resultado perinatal. MÉTODOS: Estudio retrospectivo y descriptivo. Se realizó amniocentesis a embarazadas con indicación de estudio genético prenatal por sospecha ecográfica de alteraciones cromo-sómicas, entre octubre de 2010 y marzo de 2015, en el Hospital Sótero del Río. RESULTADOS: Los hallazgos ecográficos más frecuentes fueron: cardiopatías congénitas, malformaciones del sistema nervioso central y restricción de crecimiento fetal precoz. 164 pacientes aceptaron el estudio invasivo antenatal, obteniéndose resultados de 154. El promedio de edad materna y edad gestacional del examen fueron 30 años y 27+3 semanas, respectivamente. En embarazos con trisomía 21 y 13, el 71% de las pacientes tenía sobre 35 años. Un 31% de las muestras presentaron cariotipo anormal, siendo la más frecuente la trisomía 21 (14%), trisomía 18 (9%), monosomía X (4,5%) y trisomía 13 (2,6%). CONCLUSIÓN: El diagnóstico genético prenatal permite un adecuado manejo perinatal, coordinación apropiada entre las unidades de Obstetricia y Neonatología, y la preparación de las pacientes y sus familias para un pronóstico perinatal adverso.

BACKGROUND: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. AIMS: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. METHODS: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneu-ploidy. RESULTS: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal genetic, obtaining 154 results. The average maternal age was 30 years and the mean gestational age at amniocentesis was 27+3 weeks. In trisomy 21 pregnancies, 71% of patients were higher than 35 years. 31% of the samples had abnormal karyotype: trisomy 21 (14%), trisomy 18 (9%), Turner's syndrome (4.5%) and trisomy 13 (3%). CONCLUSIONS: Prenatal genetic diagnosis allows appropriate perinatal management and contributes to prepare the patient and their families for an adverse perinatal outcome.

IL-6 and IL-10 levels in the umbilical cord blood of newborns with a history of crack/cocaine exposure in utero: a comparative study / Níveis de IL-6 e IL-10 no sangue de cordão umbilical de recém-nascidos com história de exposição intrauterina ao crack/cocaína: um estudo comparativo

Introduction Prenatal cocaine exposure (PCE) is associated with neurobehavioral problems during childhood and adolescence. Early activation of the inflammatory response may contribute to such changes. Our aim was to compare inflammatory markers (IL-6 and IL-10) both in umbilical cord blood and in maternal peripheral blood at delivery between newborns with history of crack/cocaine exposure in utero and non-exposed newborns. Methods In this cross-sectional study, 57 newborns with a history of crack/cocaine exposure in utero (EN) and 99 non-exposed newborns (NEN) were compared for IL-6 and IL-10 levels. Sociodemographic and perinatal data, maternal psychopathology, consumption of nicotine and other substances were systematically collected in cases and controls. Results After adjusting for potential confounders, mean IL-6 was significantly higher in EN than in NEN (10,208.54, 95% confidence interval [95%CI] 1,328.54-19,088.55 vs. 2,323.03, 95%CI 1,484.64-3,161.21; p = 0.007; generalized linear model [GLM]). Mean IL-10 was also significantly higher in EN than in NEN (432.22, 95%CI 51.44-812.88 vs. 75.52, 95%CI 5.64-145.39, p = 0.014; GLM). Adjusted postpartum measures of IL-6 were significantly higher in mothers with a history of crack/cocaine use (25,160.05, 95%CI 10,958.15-39,361.99 vs. 8,902.14, 95%CI 5,774.97-12,029.32; p = 0.007; GLM), with no significant differences for IL-10. There was no correlation between maternal and neonatal cytokine levels (Spearman test, p ≥ 0.28 for all measures). Conclusions IL-6 and IL-10 might be early biomarkers of PCE in newborns. These findings could help to elucidate neurobiological pathways underlying neurodevelopmental changes and broaden the range of possibilities for early intervention.

Introdução A exposição pré-natal à cocaína está associada a problemas neurocomportamentais durante a infância e adolescência. A ativação precoce da resposta inflamatória pode contribuir para tais alterações. Nosso objetivo foi comparar marcadores inflamatórios (IL-6 e IL-10) no sangue do cordão umbilical e no sangue periférico materno na hora do parto, entre recém-nascidos expostos ao crack intraútero e recém-nascidos não expostos. Métodos Neste estudo transversal, 57 recém-nascidos expostos ao crack intraútero (RNE) e 99 recém-nascidos não expostos (RNNE) foram comparados quanto aos níveis de IL-6 e IL-10. Dados sociodemográficos e perinatais, psicopatologia materna, consumo de nicotina e outras substâncias foram sistematicamente coletados em casos e controles. Resultados Após o ajuste para potenciais confundidores, a média de IL-6 foi significativamente maior nos RNE em comparação aos RNNE [10.208,54, intervalo de confiança (IC95%) 1.328,54-19.088,55 versus2.323,03, IC95% 1.484,64-3.161,21; p = 0,007; modelo linear generalizado (MLG)]. A média ajustada de IL-10 foi significativamente maior nos RNE do que nos RNNE (432,2189, IC95% 51,44-812,88 versus 75,52, IC95% 5,64-145,39, p = 0,014; MLG). Medidas pós-parto ajustadas de IL-6 foram significativamente maiores nas mães que usaram de crack/cocaína (25.160,05, IC95% 10.958,15-39.361,99 versus 8.902,14, IC95% 5.774,97-12.029,32; p = 0,007; MLG), sem diferenças significativas para IL-10. Não houve correlação entre níveis maternos e neonatais de citocinas (teste de Spearman, p ≥ 0,28 para todas as medidas). Conclusões IL-6 e IL-10 podem ser biomarcadores precoces da exposição pré-natal a cocaína em recém-nascidos. Esses resultados podem ajudar a elucidar as vias neurobiológicas subjacentes a alterações do desenvolvimento e aumentar a gama de possibilidades para intervenção precoce.

Good practices in collecting umbilical cord and placental blood / Boas práticas para a coleta de sangue de cordão umbilical e placentário / Buenas prácticas para la recolección de sangre del cordón umbilical y de la placenta

Abstract Objective: to identify the factors related to the quality of umbilical cord and placental blood specimens, and define best practices for their collection in a government bank of umbilical cord and placental blood. Method: this was a descriptive study, quantitative approach, performed at a government umbilical cord and placental blood bank, in two steps: 1) verification of the obstetric, neonatal and operational factors, using a specific tool for gathering data as non-participant observers; 2) definition of best practices by grouping non-conformities observed before, during and after blood collection. The data was analyzed using descriptive statistics and the following statistical software: Statistica(r) and R(r). Results: while there was a correlation with obstetrical and neonatal factors, there was a larger correlation with operational factors, resulting in the need to adjust the professional practices of the nursing staff and obstetrical team involved in collecting this type of blood. Based on these non-conformities we defined best practices for nurses before, during and after blood collection. Conclusion: the best practices defined in this study are an important management tool for the work of nurses in obtaining blood specimens of high cell quality.

Resumo Objetivos: identificar fatores relacionados à qualidade das amostras do sangue de cordão umbilical e placentário e definir boas práticas para sua coleta em um banco público de sangue de cordão umbilical e placentário. Método: pesquisa descritiva, abordagem quantitativa, realizada em um banco público de sangue de cordão umbilical e placentário, desenvolvida em duas etapas: 1) verificação dos fatores obstétricos, neonatais e operacionais, obtidos por coleta em instrumento próprio e observação não participante; 2) definição das boas práticas, por meio do agrupamento de não-conformidades observadas antes, durante e após a coleta do sangue. Os dados foram analisados por meio da estatística descritiva, utilizando-se dos softwares Statistica(r) e R(r). Resultados: houve correlação da influência dos fatores obstétricos e neonatais em menor escala quando comparados aos fatores operacionais, resultando na necessidade de readequar a prática profissional do enfermeiro e da equipe obstétrica envolvida no processo da coleta desse tipo de sangue. A partir das não-conformidades foram definidas boas práticas para o enfermeiro antes, durante e após a coleta. Conclusão: as boas práticas definidas neste estudo são importante ferramenta gerencial para o trabalho do enfermeiro na obtenção de amostras de sangue com alta qualidade celular.

Resumen Objetivos: identificar factores relacionados a la calidad de las muestras de la sangre del cordón umbilical y de la placenta y definir buenas prácticas para su recolección en un banco público de sangre del cordón umbilical y de la placenta. Método: investigación - descriptiva, abordaje cuantitativo, realizada en un banco público de sangre - del cordón umbilical y de la placenta, desarrollada en dos etapas: 1) verificación de los factores obstétricos, neonatales y operacionales, obtenidos por recolección con instrumento propio y observación no participante; 2) definición de las buenas prácticas, por medio del agrupamiento de no-conformidades observadas antes, durante y después de la recolección de la sangre. Los datos fueron analizados por medio de la estadística descriptiva, utilizando los softwares Statistica(r) y R(r). Resultados: hubo correlación de la influencia de los factores obstétricos y neonatales en menor escala cuando comparados a los factores operacionales, resultando en la necesidad de readecuar la práctica profesional del enfermero y del equipo obstétrico que participa en el proceso de la recolección de ese tipo de sangre. A partir de las no-conformidades fueron definidas buenas prácticas para el enfermero antes, durante y después de la recolección. Conclusión: las buenas prácticas definidas en este estudio son importante herramienta administrativa para el trabajo del enfermero en la obtención de muestras de sangre con alta calidad celular.

Intra-amniotic thyroxine to treat fetal goiter

A 35-year-old pregnant woman visited our department and had been treated with 100 microg of daily oral levothyroxine for hypothyroidism. An ultrasonography screening was performed at 25 weeks gestation and revealed a fetal goiter and an increased amniotic fluid volume. Fetal hypothyroidism was confirmed by cordocentesis and amniotic hormone levels at 26 weeks gestation. We treated the mother with 200 microg of daily oral levothyroxine to optimize the transplacental transfer. A total of four intra-amniotic injections of levothyroxine were administered, resulting in progressive reduction in the fetal thyroid volume of goiter as measured by 3D ultrasonography and increased amniotic fluid volume. Following birth, neonatal serum thyroid stimulating hormone level was within the normal range, but free T4 was reduced. Based on this case, we suggest that monitoring amniotic fluid thyroid hormone concentration and intra-amniotic levothyroxine injection can be used to reduce the thyroid volume of goiters and to prevent polyhydramnios.

The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia

PURPOSE: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement of fetal coagulation factor levels is still the best option, and it may be the only option in some cases. This study was conducted to determine the normal ranges of midtrimester cord blood factor VIII (FVIII) and IX (FIX) in a Korean population. MATERIALS AND METHODS: Twenty-six FVIII samples and 29 FIX samples were assayed in fetal cord blood acquired by ultrasound-guided cordocentesis. Sampling was conducted during gestational ages of 19-24 weeks. RESULTS: The mean and standard deviations for FVIII and FIX activity were 45.5±30.5% and 19.9±12.2%, respectively. Ranges for FVIII and FIX were 1.5-125.0% and 6.0-52.0%, respectively. CONCLUSION: Our study revealed the normal ranges and lowest level of factor VIII and factor IX in non-affected normal fetus by fetal cord blood sampling during the mid-trimester in a Korea population. The factor assay of the fetal cord blood is invasive but feasible and provides important basic data related to hemophilia.

Prenatal Diagnosis of Fetal Goiter in a Euthyroid Mother / 대한주산의학회잡지

Congenital fetal goiter is a very rare pathology, is sometimes difficult to diagnose when there is no maternal history or the goiter size is moderate. We report a case of prenatally diagnosed fetal goiter in a euthyroid mother. A 28-year-old woman was referred to our clinic at 38(+2) weeks of gestation. Ultrasonographic examination revealed a fetal goiter. The maternal history and thyroid function tests, including antithyroid autoantibody tests, were unremarkable. Cesarean section was performed, and the thyroid profile of the neonate was consistent with congenital hypothyroidism. Thyroxine therapy was immediately started. Fetal thyroid function must be determined when a goiter is detected. Cordocentesis is a more reliable but riskier diagnostic tool than amniocentesis. Intra-amniotic injection of thyroxine is relatively safe and an easier management option for fetal hypothyroidism. To develop more noninvasive and safe methods for therapeutic efficacy monitoring, a large-scale study is necessary.

Conocimiento de las técnicas de diagnóstico prenatal por parte de los médicos de atención primaria / Awareness of prenatal diagnosis methods among primary care physicians

En el año 2000, la Consejería de Salud de la Junta de Andalucía pone en marcha los procesos asistenciales integrados (PAI). El PAI correspondiente al embarazo, el parto y el puerperio, que implica tanto al médico de atención primaria como al obstetra, fue uno de los primeros en implantarse. Los avances en genética han propiciado una mejora en el diagnóstico precoz de anomalías genéticas, por ello es importante el conocimiento y la formación del médico de atención primaria en las técnicas de cribado. Objetivo: Valorar los conocimientos teóricos de los médicos de atención primaria sobre las técnicas de diagnóstico prenatal y si se consideran capacitados para ofrecer asesoramiento genético. Diseño: Estudio descriptivo transversal. Ámbito: Distritos sanitarios Valle del Guadalhorce (Málaga) y Condado-Campiña (Huelva). Población: Médicos de atención primaria de la zona que aceptaron participar, con exclusión de pediatras, médicos de urgencias y dispositivos de apoyo. Intervenciones: Mediante un cuestionario se evaluaron los conocimientos de los médicos de atención primaria y su percepción consciente en cuanto a su falta de conocimiento en el tema. Participaron 108 médicos, y se obtuvieron 100 cuestionarios válidos. Los datos se analizaron con el paquete estadístico SPSS 13.0 Windows. Conclusiones: Existe un alto índice de desconocimiento sobre las técnicas de diagnóstico prenatal por parte de los médico de atención primaria...

Application and evaluation of invasive prenatal diagnostic techniques and analysis of chromosomal karyotype / 中南大学学报(医学版)

OBJECTIVE@#To evaluate the safety, effectiveness and complications of serial invasive prenatal diagnostic techniques, and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype.@*METHODS@#We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital. The indication of the procedure, successful rate and complications were evaluated, and 25 abnormal chromosome nuclear types were analyzed.@*RESULTS@#A total of 669 patients received invasive prenatal diagnosis from March 2005 to May 2012 in Second Xiangya Hospital: 598 received amniocentesis and 71 cordocentesis carried out. Compared with the cordocentesis group, the amniocentesis group had higher achievement ratio (91.54% vs 100%, P<0.05), lower spontaneous abortion rate (1.41% vs 0.33%, P<0.05), fewer abnormal karyotypes (11.27% vs 2.84%, P<0.05) and lower expenditure (880 yuan vs 800 yuan, P<0.05). Positive screening, advanced maternal age, and ultrasonography abnormality were the top 3 indications of amniocentesis and cordocentesis. We found 25 abnormal karyotypes, including 6 cases of trisomy 21, 4 sex chromosomal abnormalities, 7 autosomal balanced translocations, 1 marker chromosome, and 7 mosaics.@*CONCLUSION@#As a widely used invasive prenatal diagnosis, amniocentesis is safe and effective. The complications of cordocentesis are much higher than those of amniocentesis, which is not a proper routine procedure for prenatal diagnosis of abnormal karyotype. The analysis of karyotype not only can identify fetal chromosome abnormality, but also provide the scientific basis for pregnancy continuation, thus reducing the ratio of birth defect.

Cord blood haemoglobin and ferritin concentrations in newborns of anaemic and non-anaemic mothers in Lagos, Nigeria

Background: Pre-delivery haemoglobin and serum ferritin concentrations of anaemic and non-anaemic mothers were determined, and cord blood haemoglobin and serum ferritin concentrations of their newborns were compared. This is to establish the mean values for pre-delivery haemoglobin and serum ferritin concentrations of anaemic and non-anaemic mothers and the cord blood haemoglobin and serum ferritin concentrations of their newborns at term. Materials and Methods: A case­control study was done involving 142 pregnant women and their newborns. They were divided into two groups - the anaemic group (n = 65) and the non-anaemic (n = 77) group. Five millilitres of blood was collected from each woman and 2 ml was collected from the cord of their newborns into ethylenediaminetetraacetic acid (EDTA) bottle and plain bottle for full blood count analysis and ferritin assay, respectively. Results: The mean pre-delivery haemoglobin concentrations of the women in anaemic group and non-anaemic group were 9.5 ± 1.01 g/dl and 12.15 ± 1.07 g/dl, respectively, and their mean serum ferritin concentrations were 64.45 ± 138.76 µg/l and 32.83 ± 35.36 µg/l, respectively. The mean cord blood haemoglobin concentrations for anaemic and for non-anaemic groups were 12.54 ± 2.54 g/dl and 13.44 ± 2.23 g/dl (P = 0.02), respectively, and the mean cord blood serum ferritin concentrations (non-anaemic, 69.38 ± 78.88 µg/l; anaemic, 7.26 ± 115.60 µg/l) (P = 0.00) were higher in the newborns of non-anaemic than of anaemic mothers. Significant association was found between maternal anaemia and cord blood ferritin concentrations (P = 0.025). Conclusion: Maternal anaemia has significant effects on cord blood haemoglobin and serum ferritin concentrations

Análise dos resultados maternos e fetais dos procedimentos invasivos genéticos fetais: um estudo exploratório em Hospital Universitário / Analysis of fetal and maternal results from fetal genetic invasive procedures: an exploratory study at a University Hospital

OBJETIVO: Caracterizar as indicações das gestantes que procuraram o serviço de Medicina Fetal do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo para realização de procedimentos invasivos diagnósticos e avaliar os resultados dos cariótipos fetais e de suas gestações. MÉTODOS: Estudo observacional retrospectivo das gestantes que realizaram biópsia de vilo corial (BVC), amniocentese e cordocentese no período de fevereiro de 2005 a dezembro de 2009. Não foram incluídos outros procedimentos diagnósticos ou procedimentos terapêuticos. O resultado da gestação foi obtido através de consulta de prontuário eletrônico e/ou físico e/ou contato telefônico. RESULTADOS: Foram realizados 713 procedimentos (113 BVC, 340 amniocenteses e 260 cordocenteses). A principal indicação para a realização dos procedimentos invasivos foi a presença de alterações estruturais nos fetos, seguido por valores aumentados da translucência nucal e pela idade materna avançada. O cariótipo fetal esteve alterado em 186 casos (26,1%). A trissomia do cromossomo 18 foi a aneuploidia mais comum, seguida pela trissomia do 21, a monossomia do X e a trissomia do cromossomo 13. Ocorreram 4,9% de abortamento, 25,7% de natimortos e 13% de neomortos. Oito gestantes optaram pela interrupção judicial, e 99% das gestantes cujos fetos não apresentavam malformação e que apresentavam cariótipo fetal normal tiveram nativivos.

OBJECTIVE: To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clínicas, at the Medical School of the Universidade de São Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies. METHODS: A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS), amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic or therapeutic procedures were not included. The result of pregnancy was obtained by consulting patient electronic records, medical records, and/or telephone call. RESULTS: 713 procedures were performed (113 CVS, 340 amniocenteses, and 260 cordocenteses). The main indication for performing invasive procedures was the presence of structural changes in fetuses, followed by increased values of nuchal translucency, and advanced maternal age. Fetal karyotype was altered in 186 cases (26.1%). The 18 trisomy was the commonest aneuploidy followed by the 21 trisomy, X monosomy, and 13 trisomy. There were 4.9% cases of miscarriage, 25.7% cases of stillborn infants, and 13% cases of neonatal deaths. Eight pregnant women opted for legally induced abortion. 99% of pregnant women whose fetuses did not present abnormalities and presented normal fetal karyotype had infants who were born alive.

Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India.

The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to determine the true burden of the disease. Although screening in antenatal clinics is being done at many centres, only 15-20 per cent of pregnant women register in antenatal clinics in public hospitals in the first trimester of pregnancy. There are only a handful of centres in major cities in this vast country where prenatal diagnosis is done. There is considerable molecular heterogeneity with 64 mutations identified, of which 6 to 7 common mutations account for 80-90 per cent of mutant alleles. First trimester foetal diagnosis is done by chorionic villus sampling (CVS) and DNA analysis using reverse dot blot hybridization, amplification refractory mutation system (ARMS) and DNA sequencing. Second trimester diagnosis is done by cordocentesis and foetal blood analysis on HPLC at a few centres. Our experience on prenatal diagnosis of haemoglobinopathies in 2221 pregnancies has shown that >90 per cent of couples were referred for prenatal diagnosis of β-thalassaemia after having one or more affected children while about 35 per cent of couples were referred for prenatal diagnosis of sickle cell disorders prospectively. There is a clear need for more data from India on non-invasive approaches for prenatal diagnosis.

Enfermedad hemolítica perinatal: manejo de la embarazada RhD negativo / Perinatal hemolytic disease: management of RhD immunization in pregnancy

En solo 50 años la enfermedad hemolítica perinatal por isoinmunización anti D pasó de ser una enfermedad sin etiología conocida, incurable y no prevenible, a la situación actual en que por las técnicas de prevención, diagnóstico oportuno y tratamiento especializado tiene baja incidencia y altas expectativas de sobrevida, incluso en los casos más severos. Se describe la historia, las técnicas de prevención, diagnóstico, manejo y tratamiento de la enfermedad.

In just 50 years the perinatal hemolytic disease due to RhD isoimmunization went from being a disease without known etiology, untreatable and not preventable to the current situation in which the prevention techniques, opportune diagnosis and specialized treatment has low its incidence and has an expected high survival even in the more severe cases. This article describes the history, prevention techniques, diagnosis, management and treatment of the disease.

Papel de la medición de la velocidad sistólica máxima en arteria cerebral media en la isoinmunización rhesus / Fetal middle cerebral artery peak systolic velocity in rh isoimmunization

Objetivo: Evaluación del papel de la velocidad sistólica máxima en arteria cerebral media (VSM-ACM) en casos de isoinmunización Rh. Métodos: 67 casos de isoinmunización Rh, en el Hospital La Paz desde febrero del 2006 hasta agosto del 2009, con título de anticuerpos > 1:32, afectación en embarazo previo y/o casos de isoinmunización anti- Kell, en los que se ha realizado medición de la VSM-ACM. Resultados: La capacidad de detección de anemia moderada-severa en base a la medición de VSM-ACM presenta: sensibilidad 80 por ciento (IC95 por ciento: 59,8-100), especificidad y valor predictivo positivo 100 por ciento, y valor predictivo negativo 85,7 por ciento (IC95 por ciento: 70,7-100). El coeficiente de correlación de Pearson entre la hemoglobina estimada y la real es de 0,71. Conclusión: La medición de VSM-ACM predice casos de anemia moderada y severa que son los clínicamente cruciales por la necesidad de actuación obstétrica activa en forma de transfusión intrauterina o finalización del embarazo.

Objective: To evaluate the fetal middle cerebral artery peak systolic velocity (MCA-PSV) in the management of Rh isoimmunized pregnancies. Methods: 67 pregnancies complicated by Rh isoimmunization, in La Paz Hospital ( Madrid) since 2006 February until 2009 August 2009, with maternal antibody titers > 1:32, affected in previous pregnancies and/or anti-Kell isoimmunization, in which MCA-PSV has been measured. Results: For the detection of moderate-severe fetal anemia, Doppler ultrasonography of the middle cerebral artery had a sensitivity of 80 percent (CI95 percent: 59.8-100), a specificity and positive predictive value of 100 percent, and a negative predictive value of 85.7 percent (CI95 percent: 70.7-100). The Pearson correlation coefficient between estimated hemoglobin and real hemoglobin is 0.71. Conclusion: The measurement of MCA-PSV predicts moderate-severe fetal anemia cases, which are the most important in the clinical management because of the need of active treatment with intrauterine transfusion or induction labor.

Transfusión intrauterina por cordocentesis: efectos adversos inmunohematológicos e impacto en el neonato / Introuterine transfusion by cordocentesis: adverse immunohematological effects and impact on the newborn

Objetivos: Evaluar las complicaciones inmunohematológicas producidas por las madres sensibilizadas que son sometidas a transfusión intrauterina (TIU) y su impacto en el recién nacido (RN). Materiales y métodos: Se realizó un trabajo retrospectivo que incluyó 22 pacientes (ptes) de alto riesgo (20 con anti D, 1 anti C y 1 anti E) a las que se les realizaron tratamiento con TIU, los datos se obtuvieron de la historia clínica de la madre, del RN y fichas inmunohematológicas del servicio de medicina transfusional, a las pacientes se le realizaron controles inmuno - hematológicos en la primera consulta y luego cada 15 días hasta finalizar el embarazo lo que incluyó titulación más dosaje ponderal de anticuerpo, luego cada dos TIU se realizó panel identificador. Resultados: Del total de las ptes; 3 desarrollaron nuevos ac. después del 4° procedimiento, en dos pacientes se sumó un anticuerpo (Ac) y una pte formó 2. Al determinar la causa probable de la formación de dichos Ac se encontró: Un anti C que fue asociado al pasaje de sangre fetal a la madre, un anti Kell a los GR transfundidos, y en los ac anti c y Jka no se pudo dilucidar su origen. El 73% de las ptes elevó los títulos después de las TIU. La relación entre aumento de títulos y n° de TIU fue del 31% posterior a la 1a., el 56% a la 2a., 13% a la 3a. o más. El 69% de las ptes aumentó los títulos una única vez, independientemente del número de punciones y el 31 % ascendió con cada estímulo. En 9 ptes las TIU fueron transplacentarias y todas ellas elevaron los títulos de Ac; en las 13 no transplacentarias solo 7 aumentaron. Del total de RN, 52% tuvo como complicación anemia tadía un 19% recibió exanguíneotransfusión y el resto sin complicación. El dosaje ponderal de Ac se elevó más que los títulos en los casos de mayor afección en RN. Conclusión: Las complicaciones inmunohematológicas por TIU son frecuentes y pueden afectar el futuro obstétrico y transfusional de la madre... (TRUNCADO)

Objectives: Assess the immunohematological complications intrauterine transfusion (lUT) produced in sensitized mothers and its impact on the new born (NB). Materials and methods: A retrospective study was carried out, including 22 high risk patients (20 with anti-­D antibodies, 1 with anti-c antibodies and 1 with anti-E antibodies) which underwent percutaneous umbilical cord blood transfusion (or IUT), the data were obtained from the mothers and the newborns clinical chart as well as immunohematological record cards of the transfusion medicine department. Imunohematological testing including antibody titre and ponderal antibody quantitation was carried out at each patients first ap pointment and thenceforward every two weeks until the end of pregnancy, and cell panel antibody screening after every second IUT. Results: Out of the total of 22 patients; 3 developed new antibodies following the 4th procedure, two patients added one new antibody and one patient formed two antibodies. When determining the probable cause for these antibodies, the following was found: in one case an Anti-C antibody was linked to fetal-to-maternal hemorrhage, an anti-Kell antibody as reponse to antigens from the transfused red cells; and the origin of an anti-c antibody and an anti-Jka could not be explained. Increased antibody titre after IUT was found in 73% of the patients. Increase of titre regarding number of IUTs: 31% following the first procedure, 56% after the second and 13% after 3 or more procedures. Aside from the number of IUTs, in 69% of the cases the titre increased only once, while 31% of the patients suffered increase with each antigenic stimulus. Antibody titre increased in all 9 patients that under­went transplacental IUT; while only 7 of the 13 nontransplacental cases did. Late onset anemia occured in 52% of the newborns, and 19% required exsanguinotransfusion. The rest did not have any complication... (TRUNCADO)

The usefulness of Doppler ultrasonography and the perinatal outcome of fetal anemia treated with intraumbilical venous transfusion / 대한산부인과학회지

OBJECTIVE: We undertook this study to determine the clinical characteristics and the prognostic factors of neonatal survival in patients with fetal anemia who were treated by intraumbilical venous transfusion (IUT). METHODS: From July 2000 to March 2009, 16 cases of fetal anemia were diagnosed at Asan Medical Center in Seoul, Korea. These patients underwent intraumbilical venous transfusions and were thus included in our study. Doppler measurement of the middle cerebral artery peak systolic velocity was performed before and after cordocentesis in all fetuses. RESULTS: The gestational age at the time of the diagnosis of anemia ranged from 21.3 to 33.6 weeks. There was a linear correlation between pre- and post-procedure fetal hemoglobin (Hb,MoM, (x)) and the MCA-PSV (MoM, (y)), i.e., y=0.810-0.229x, r2=0.542, CI 0.316-0.141, p<0.005; and y=1.374-0.391x, r2=0.499, CI 0.584-0.197, p<0.005. The survival was better in patients with severe anemia than those with mild to moderate anemia (p<0.05), and survival was better in patients with anemia of a known cause than those with anemia of an unknown cause (p<0.001). CONCLUSION: In fetuses with anemia, the severity of the anemia before IUT and the change of hemoglobin concentration after IUT, can be estimated noninvasively using Doppler ultrasonography, on the basis of an increase in the peak velocity of systolic blood flow in the middle cerebral artery. Both severity and etiology were meaningful factors for the survival of neonates with fetal anemia who were treated by intraumbilical venous transfusion. Although fetuses have severe anemia, they expected improved survival through IUT. These data are valuable information for use when counseling the parents of an affected fetus.