ABSTRACT
In skeletal dysplasias, there are short rib polydactyly syndromes, which traditionally differentiate into four lethal types. This report describes a case of Type III, which presented characteristics of Types I and II. A 38-year-old woman presented fetal growth restriction at 17 weeks and 6 days, decreased amniotic fluid, enlarged and hyperechogenic kidneys, and long bones below the 3rd percentile. Three weeks later, she developed anhydramnia. The couple did not consent to the performance of an invasive test for genetic diagnosis and chose to maintain the pregnancy. At 33 weeks, due to premature labor and interactivity, a cesarean section was performed, giving birth to a female baby, who died due to respiratory failure there were no vocal cords and no trachea visible at laryngoscopy. On physical examination, he had the phenotypic characteristics of the syndrome. An X-ray showed short ribs and severe pulmonary hypoplasia. After birth, the parents chose not to carry out a genetic study or an anatomical examination. Researchers have suggested that there is an intersection of the anatomical changes of the types. This case report supports this theory.
En las displasias esqueléticas, existen síndromes de polidactilia de costillas cortas, que tradicionalmente se diferencian en cuatro tipos letales. Este reporte describe un caso del tipo III, que presentó características de los tipos I y II. Mujer de 38 años con restricción del crecimiento fetal a las 17 semanas y 6 días, líquido amniótico disminuido, riñones agrandados e hiperecogénicos y huesos largos por debajo del percentil 3. Tres semanas después, desarrolló anhidramnia. La pareja no consintió en la realización de una prueba invasiva de diagnóstico genético y optó por mantener el embarazo. A las 33 semanas, debido al parto prematuro y la interactividad, se realizó una cesárea, dando a luz a un bebé, que murió debido a una insuficiencia respiratoria: no había cuerdas vocales ni tráquea visible en la laringoscopia. Al examen físico presentaba las características fenotípicas del síndrome. Una radiografía mostró costillas cortas e hipoplasia pulmonar severa. Después del nacimiento, los padres optaron por no realizar un estudio genético ni un examen anatómico. Los investigadores han sugerido que existe una intersección de los cambios anatómicos de los tipos. Este reporte de caso apoya esta teoría.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Short Rib-Polydactyly Syndrome/diagnosisABSTRACT
Fetal reduction is a novel method that aims to reduce a higher-order gestation to lower-order pregnancy to reduce both maternal and perinatal adverse outcomes. One of the methods of fetal reduction is by intracardiac injection of KCl under ultrasound guidance. Here, we present a case series ofeight women who had undergone fetal reduction. All of them were trichorionic triamniotic triplets at the time of reduction. In seven women, the reduction was done to twin gestation, whereas one reduction was to singleton pregnancy. Out of eight cases, only one carried to full term and underwent vaginal delivery. One case was lost to follow-up and 2 women underwent expulsion. A total of nine live births were reported with 8 babies going to the neonatal intensive care unit for low birth weight and preterm care. Fetal reduction is an important method that needs to be widely practiced and reported to improve maternal and perinatal outcomes in multifetal gestation.
ABSTRACT
Resumen OBJETIVO: Validar el rendimiento de la calculadora de la Fundación de Medicina Fetal 4.0 adaptada a población mexicana. MATERIALES Y MÉTODOS: Estudio de cohorte efectuado en embarazos con feto único, según el modelo de riesgos en competencia para preeclampsia en un centro de medicina fetal de la Ciudad de México. El riesgo a priori se calculó de acuerdo con la historia clínica. La presión arterial media, el índice de pulsatilidad medio de la arteria uterina y la proteína plasmática A asociada al embarazo se midieron a las 11 a 14 semanas de gestación con metodología estandarizada. El valor de cada marcador se transformó en múltiplos de la mediana adaptados a la población local. Se aplicaron la distribución normal multivariante y el teorema de Bayes para obtener las probabilidades posprueba individuales, que se utilizaron como clasificadores para el área bajo la curva de característica receptor-operador. RESULTADOS: La incidencia de preeclampsia fue del 5.0% (54/1078). El área bajo la curva de característica receptor-operador fue de 0.784 (0.712; 0.856) para preeclampsia a menos de 37 semanas y de 0.807 (0.762; 0.852) para preeclampsia global. CONCLUSIONES: La calculadora FMF 4.0 adaptada a población mexicana resultó válida. Si bien tuvo menor rendimiento al esperado para preeclampsia a menos de 37 semanas, el rendimiento para preeclampsia global fue satisfactorio. Se justifica desarrollar la calculadora local.
Abstract OBJECTIVE: To validate the performance of the Fetal Medicine Foundation 4.0 calculator adapted to the Mexican population. MATERIALS AND METHODS: Cohort study performed in singleton pregnancies, according to the competing risk model for preeclampsia in a fetal medicine center in Mexico City. The a priori risk was calculated according to the clinical history. Mean arterial pressure, mean uterine artery pulsatility index and pregnancy-associated plasma protein A were measured at 11 to 14 weeks of gestation with standardized methodology. The value of each marker was transformed into multiples of the median adapted to the local population. Multivariate normal distribution and Bayes' theorem were applied to obtain individual posttest probabilities, which were used as classifiers for the area under the receiver-operator characteristic curve. RESULTS: The incidence of preeclampsia was 5.0% (54/1078). The area under the receiver-operator characteristic curve was 0.784 (0.712; 0.856) for preeclampsia at less than 37 weeks and 0.807 (0.762; 0.852) for global preeclampsia. CONCLUSIONS: The FMF 4.0 calculator adapted to Mexican population proved valid. Although it had lower performance than expected for preeclampsia at less than 37 weeks, the performance for global preeclampsia was satisfactory. The development of the local calculator is justified.
ABSTRACT
Multifetal gestation is often a high-risk pregnancy and especially the monochorionic twin pregnancy significantly contributes to fetal morbidity and mortality. Acardiac twinning, earlier known as chorioangiopagus parasiticus, is the most extreme manifestation of this condition. An acardiac twin is a rare complication of multifetal pregnancy, in the literature reported at an incidence of 1% of monochorionic twin pregnancies, i.e. 1 of 35,000 pregnancies. Often results from abnormal placental vascular anastomoses. This leads to twin reversal arterial perfusion with complex pathophysiology. Here authors present a case of acardiac twin pregnancy presented at 26 weeks with the ultrasonography report suggested?? Placental teratoma of size 11×11×13 cm with polyhydramnios as there was no reason to suspect something else as the picture described in the USG report with the polyhydramnios was fitting with the diagnosis of placental teratoma but as the scan was done at taluka place and the images provided were not clear authors decided to confirm the diagnosis from fetal medicine specialist as MTP was not the option for the patient as she was 28 weeks who confirmed that as a case of acardiac twin pregnancy and the case was managed accordingly.
ABSTRACT
Background: Gestational diabetes is defined as impaired glucose tolerance with onset or first recognition during pregnancy. Undiagnosed or inadequately treated gestational diabetes can lead to significant maternal and fetal complications. Even though there are guidelines for diagnosis of GDM (gestational diabetes mellitus) by the Government of India, there is poor penetration of the implementation throughout the nation.Methods: The study was conducted in A. J. Institute of Medical Sciences between April to June 2019. 56 patients were evaluated with the fetal medicine foundation GDM risk calculator to assess the risk for gestational diabetes in a retrospective approach.Results: Incidence of GDM in the study was 15.9%. At a cut-off of 1/80, the calculator predicted increased risk for 37 out of 56 patients. There was a sensitivity of 91.6% and specificity of 63.6% with a negative predictive value of 96.5% and positive predictive value of 29.5%. there was a false positive rate of 43.2%.Conclusions: The fetal medicine foundation GDM risk calculator will prove to be an invaluable tool to predict high risk patients who need closer monitoring of blood glucose into the third trimester.
ABSTRACT
We systematically analyzed the progress on basic research in fetal medicine in China funded by National Natural Science Foundation of China since 1987.Aiming to promote basic research in fetal medicine,a series of effective measures has been implemented by National Natural Science Foundation of China in recent years,such as defining specific research goals and keywords under the application code of fetal medicine,launching emergent management projects and organizing strategic discussion with experts.Despite the wide gap between domestic and foreign researches,we have some advantages and have already made great achievements.Here are some suggestions on future basic research in fetal medicine from the perspective of funding application in China.
ABSTRACT
[Objective] To describe a case of a rare,novel mutation causing recurrent chorioamniotic membrane separation in a Chinese family with combined next-generation sequencing (NGS) and Sanger sequencing.[Methods] For the affected fetus,potential mutation were detected by the conbinedcombined next-generation sequencing (NGS) and Sanger sequencing.And the prenatal diagnosis were identified by Sanger sequencing.[Results] A frameshifting mutation c.1389_1390delAG (inherited from mother),and a missense mutationc.1006 G ＞ C (inherited from mother) have been identified in the affected fetus (the second pregnancy).The prenatal diagnosis of the third fetus turns out to be a carrier,the mutation was inherited from father.[Conclusions] We describe a novel mutation in gene ZMPSTE24,which was considered with mandibuloacral dysplasia with type B,and that may be the cousecoursecausing of recurrent chorioamniotic membrane separation.This rare mutation constitutes an additional heterogeneous defect causing chorioamniotic membrane separation.And the conbinedcombined next-generation sequencing (NGS) and Sanger sequencing allows high resolution characterization of novel mutions that are not readily detected by present methods.
ABSTRACT
Because childbirth is a complex and difficult process, intensive preparation, and the immediate availability of emergency assistance during every step of delivery support to maternal safety. The World Health Organization recommends that pregnant women must be able to access the right care at the right time. Appropriate obstetricians is important factor for easy access during pregnancy. Especially, an increase in the number of specialists in maternal-fetal medicine would greatly improve the pregnancy outcomes of high-risk women. In 2013, a total of 2,274 obstetricians were employed in maternity hospitals and clinics in Korea. Their average age was 44.8 years and they will get older soon. By 2026, 740 junior obstetricians will join the maternity care system, but 916 senior obstetricians will have retired on night duty at hospital because of above 60 years of age. Thus, obstetrician numbers will fall by 176. Korea requires 2,338~3,507 obstetricians based on an annual number of deliveries per obstetrician in 2016. However, Korea has a shortage of obstetricians because of the low birth rate-induced business losses, inadequate payment system by the national health insurance program, and the quality-of-life preferences of young doctors. Ensuring an appropriate supply of obstetricians is essential for infrastructure of safe childbirth. I believe that adequate payment by the national health insurance program, and new medical insurance fees for management of high-risk pregnancies, will encourage young doctors to become obstetricians. The government should also introduce additional night duty fees and overseas training programs for young obstetricians.
Subject(s)
Female , Humans , Pregnancy , Commerce , Education , Emergencies , Fees and Charges , Hospitals, Maternity , Insurance , Korea , National Health Programs , Parturition , Pregnancy Outcome , Pregnancy, High-Risk , Pregnant Women , Specialization , World Health OrganizationABSTRACT
Abstract Objective: To generate physical models of fetuses from images obtained with three-dimensional ultrasound (3D-US), magnetic resonance imaging (MRI), and, occasionally, computed tomography (CT), in order to guide additive manufacturing technology. Materials and Methods: We used 3D-US images of 31 pregnant women, including 5 who were carrying twins. If abnormalities were detected by 3D-US, both MRI and in some cases CT scans were then immediately performed. The images were then exported to a workstation in DICOM format. A single observer performed slice-by-slice manual segmentation using a digital high resolution screen. Virtual 3D models were obtained from software that converts medical images into numerical models. Those models were then generated in physical form through the use of additive manufacturing techniques. Results: Physical models based upon 3D-US, MRI, and CT images were successfully generated. The postnatal appearance of either the aborted fetus or the neonate closely resembled the physical models, particularly in cases of malformations. Conclusion: The combined use of 3D-US, MRI, and CT could help improve our understanding of fetal anatomy. These three screening modalities can be used for educational purposes and as tools to enable parents to visualize their unborn baby. The images can be segmented and then applied, separately or jointly, in order to construct virtual and physical 3D models.
Resumo Objetivo: Gerar modelos físicos de fetos utilizando imagens obtidas por ultrassonografia tridimensional (US3D), ressonância magnética (RM) e, em alguns casos, tomografia computadorizada (TC), para orientar a técnica de adição de camadas. Materiais e Métodos: Foram usadas imagens obtidas de 31 gestantes, incluindo 5 casos de gestação gemelar. Os exames foram realizados usando US3D, RM e em alguns casos TC, e os arquivos foram exportados para uma estação de trabalho em formato DICOM. Um único observador realizou o processo de segmentação manual usando tela de alta resolução. Um software que converte imagens médicas em modelos numéricos foi utilizado para construir modelos virtuais 3D, que foram fisicamente materializados. Resultados: Os modelos virtuais e físicos baseados na US3D, RM e TC realizados separadamente ou em conjunto foram concluídos com sucesso. A aparência pós-natal do feto abortado ou do recém-nascido se assemelhou muito com os modelos físicos, particularmente nos casos de malformações. Conclusão: O uso da US3D, RM e TC pode ajudar para melhor compreensão das características físicas do feto. Essas técnicas podem ser usadas com fins didáticos para auxiliar na abordagem multidisciplinar e na melhor compreensão dos pais. As imagens podem ser segmentadas e aplicadas separadamente ou combinadas para construir modelos virtuais 3D e físicos.
ABSTRACT
En las últimas décadas existe especial interés en el feto, lo que ha originado un gran avance en la investigación por distintas especialidades de la medicina, sustentado en gran medida por el desarrollo de las aplicaciones fetales de la ecografía, que permiten obtener evidencias claras del diagnóstico de complicaciones. Adicionalmente, hay un avance tecnológico importante en el estudio del material genético del feto en muestras fetales directas u obtenidas de la circulación materna, y se han desarrollado intervenciones que están mejorando el pronóstico pre y posnatal. Estos avances configuran una nueva especialidad médica multidisciplinaria que considera al feto como un paciente individual y en relación con su madre, estableciéndose tratamientos profilácticos, terapéutica médica directa o través de la madre, intervenciones guiadas por ecografía, cirugías abiertas (limitada) y fetoscópicas, con ventajas a los tratamientos convencionales. Esta realidad obliga a revisar aspectos éticos y legales relacionados al no nacido, a cambios tanto en la organización de los servicios de salud, como en la currícula del pre y post grado de los nuevos profesionales.
In recent decades there has been a special interest in studying the fetus, which has originated important progress in research for different medical specialties, based mainly on the development of fetal ultrasound application in diagnosis of fetal complications. In addition, there has been progress in technology for fetal genetic study from material directly obtained from the fetus or from maternal circulation, and interventions that improve pre- and post-natal prognosis. This progress encompasses a new multidisciplinary medical specialty that considers the fetus as an individual patient in the context of the mother-fetus relationship, establishing prophylactic treatments, medical therapies directly applied to the fetus or through the mother, interventions guided by ultrasonography, (limited) open surgery and fetoscopy, with reasonable advantages compared to conventional treatments. This reality compels to revise ethical and legal aspects related to the not-yet born, and implementation of modifications in health care offer and pre- and post-graduate curricula.
ABSTRACT
Communicating an unfavorable diagnosis during prenatal care is a growing challenge in clinical practice, as more and more tests are being performed to screen for the main conditions affecting the pregnant woman and her fetus. The way patients receive and subsequently deal with bad news is directly influenced by how the news is communicated by the attending physician. Unfortunately, physicians receive little or no training in communicating bad news, and they generally feel quite uncomfortable about doing so. Although many physicians consider the saying that "there's no good way to break bad news" to be the truth, the maxim does not reflect the true picture. The scope of this article is to discuss, in light of the scientific literature and the experience of fetal medicine services, some recommendations that can help to deal with these difficult moments and improve patient care for the remainder of the pregnancy.
A comunicação de diagnósticos durante o pré-natal é um desafio crescente na prática clínica à medida que se realizam cada vez mais exames para o rastreio das principais patologias que acometem as gestantes e seus fetos. A recepção de uma má notícia e sua posterior elaboração pela paciente serão diretamente influenciadas pelo modo como ela foi comunicada pelo profissional assistente. Infelizmente, os médicos recebem pouco ou nenhum treinamento para transmitir más notícias e, em geral, sentem-se extremamente desconfortáveis com isso. Embora a máxima "não existe uma maneira boa de dar uma notícia ruim" seja admitida como verdade por muitos médicos, ela não é representativa da realidade. O objetivo deste artigo é discutir à luz da literatura científica e da prática em centros de medicina fetal algumas recomendações que podem facilitar a vivência desses momentos difíceis e melhorar o cuidado com os pacientes para o prosseguimento da gestação.
Subject(s)
Female , Humans , Pregnancy , Prenatal Care , Truth Disclosure , Attitude of Health Personnel , Physician-Patient Relations , Prenatal DiagnosisABSTRACT
El embarazo múltiple se asocia a un incremento de la morbimortalidad perinatal. Su incidencia se ha incrementado debido al desarrollo de la reproducción asistida. OBJETIVOS: Identificar el embarazo múltiple y relacionarlo con la edad gestacional al ingreso y al parto; determinar la edad gestacional al parto en relación con el peso de los neonatos; evaluar el momento en que se utilizaron los inductores de la madurez pulmonar fetal y relacionarlo con el síndrome de dificultad respiratoria, así como describir las entidades más frecuentes. MÉTODOS: Se realizó un estudio observacional descriptivo de 566 gestantes, de ellas 40 gemelares ingresadas en el Hogar Materno Ismaelillo entre los años 2006-2009. Se revisaron las historias clínicas y se emplearon los softwares StatGraphic Plus V5 y Excel 2007. RESULTADOS: La gemelaridad constituyó el 7,0 por ciento del total. Entre las que ingresaron antes de las 20 sem la prematuridad fue del 15 por ciento; la incidencia del bajo peso a término fue del 27,5 por ciento; se identificó el síndrome de dificultad respiratoria en el 5,0 por ciento a las 28 sem; la anemia en el 55,0 por ciento y la amenaza de parto pretérmino en el 37,5 por ciento. CONCLUSIONES: El ingreso precoz no guardó relación significativa con el parto pretérmino; predominó el bajo peso a térrmino; el síndrome de dificultad respiratoria fue más frecuente en los grupos en los que se administraron tempranamente los inductores de la madurez pulmonar fetal y la anemia fue la más frecuente
The multiple pregnancy is associated with an increase of perinatal mortality and morbidity. Its incidence has increased due to the development of the assisted reproduction OBJECTIVES: To identify the multiple pregnancy related to gestational age ad admission and to labor, to determine the gestational age at labor in relation to the neonate weight, to assess the moment to use the fetal pulmonary maturity inductors and relate it to breathlessness and to describe the more frequent entities. METHODS: A descriptive and observational study was performed in 566 pregnants (40 twins) admitted in the Ismaelillo Maternal home between 2006 and 2009. Medical records were reviewed and StatGrahic Puls V5 and Excel 2007 were used. RESULtS: The twinning was the 7,0 percent of total. Among those admitted before twinning was of 15,6 percent; incidence of term low weight was of 27,5 percent; breathlessness syndrome was identified in the 6,0 percent at 28 weeks; anemia in the 55,0 percent and preterm labor threat in the 37,5 percent. CONCLUSIONS: The early admission hasn't a significant relation to the preterm labor, there was predominance of term low weight, where the breathlessness syndrome was the more frequent in groups with early applications of inductors of fetal pulmonary maturity and the anemia was also the more frequent
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Maternal-Child Health Services , Pregnancy, Multiple , Obstetric Labor, Premature/etiology , Epidemiology, Descriptive , Observational Studies as Topic , Retrospective StudiesABSTRACT
Introdução: Entre 2% e 3% dos recém-nascidos apresentam uma anomalia maior, das quais os defeitos de fechamento do tubo neural (DFTN) representam o grupo mais pesquisado após os defeitos congênitos do coração, é o segundo defeito mais comum. Os DFTNs apresentam uma taxa de mortalidade significativa, a qual pode responder por mais de 50% das mortes por malformações, além de um alto impacto na saúde dos sobreviventes. O objetivo deste trabalho foi estudar os casos de DFTN acompanhados pelo Serviço de Medicina Fetal do HMIPV para conhecer a distribuição e evolução dessas anomalias e comparar com a literatura. Métodos: Foram estudados 1.354 laudos ecográficos do Serviço de Medicina Fetal do HMIPV no período de janeiro de 2006 a dezembro de 2008, resultando em 58 gestações cujo feto apresentava alguma anomalia congênita. Dessas, foram selecionadas as gestações com diagnóstico ecográfico e posterior confirmação pós-natal de anencefalia, cefalocele ou espinha bífida, totalizando 13 casos. Resultados: Houve seis (46,1%) casos de anencefalia, três (23,1%) cefaloceles, três (23,1%) espinhas bífidas e um (7,7%) caso de mais de um DFTN associado. Apenas 38,5% dos defeitos foram isolados. O sexo feminino foi o mais acometido, e a faixa etária materna mais acometida foi 16 a 20 anos; 84,6% abaixo de 30 anos. Em 30,8% das gestações estavam presentes conhecidos fatores de risco para o desenvolvimento de DFTN. Conclusão: Anencefalia e espinha bífida foram os defeitos mais comuns. Houve uma maior associação de outras malformações assim como a presença de fatores de risco conhecidos para o desenvolvimento de DFTN
Introduction: From 2% to 3% of newborns have a major anomaly, of which neural tube defects (NTDs) is the most investigated group after congenital heart defects, it is the second most common defect. The NTDs have a significant mortality rate, which may account for more than 50% of deaths from malformations, and a high impact on the health of survivors. The aim here was to study the cases of NTD followed by the HMIPV Fetal Medicine Group so as to understand the distribution and evolution of these anomalies and to compare with the literature. Methods: A total of 1,354 ultrasonographic reports of the HMIPV Fetal Medicine Service from January 2006 to December 2008 were studied, resulting in 58 pregnancies where the fetus had some congenital abnormality. From these we selected pregnancies with ultrasonographic diagnosis and subsequent postnatal confirmation of anencephaly, encephalocele or spina bifida, which amounted to 13 cases. Results: There were six (46.1%) cases of anencephaly, three (23.1%) cases of encephaloceles, three (23.1%) cases of spina bifida, and one (7.7%) case of more than one associated NTD. Only 38.5% of the defects were isolated. Females were more affected, and the most affected maternal age group was 16-20 years; 84,6% under 30 years. In 30.8% of these pregnancies well-known risk factors for the development of NTD were present. Conclusion: Anencephaly and spina bifida were the most common defects. There was a higher association of other malformations as well as the presence of known risk factors for the development of NTD