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O objetivo do estudo foi conhecer a vivência de mães desde o diagnóstico pré-natal da fissura labiopalatina, até o nascimento de seus filhos. Com base em uma abordagem qualitativa, foram entrevistadas nove mães de bebês que tiveram o diagnóstico de fissura labiopalatina ao se submeterem à ultrassonografia como parte dos exames de rotina para acompanhamento do desenvolvimento do feto. Os dados foram analisados de acordo com a Análise de Conteúdo, o que permitiu a identificação de quatro eixos temáticos: recebendo o diagnóstico; vivência do período pré-natal; vivência na maternidade; e a importância do diagnóstico pré-natal. Foi possível identificar o papel fundamental dos profissionais de saúde nas contingências de maior impacto: momento do diagnóstico, consultas pré-natais, busca por centro especializado e maternidade. As mães revelaram que o diagnóstico intrauterino foi importante e que as condutas dos profissionais são determinantes nessa trajetória, para garantir o acesso aos benefícios da descoberta precoce.

Congenital heart defects today, despite the early intrauterine diagnosis, are still quite common, and their danger to the patient's health is significant. The article discusses the features and modern approaches to the provision of cardiac surgical care for this congenital disease. The author comes to the conclusion that modern cardiac surgery technologies, rooted in the distant 50s of the twentieth century, allow us to conclude that at the present stage, surgical intervention in case of congenital heart defects has advanced far. Despite the challenges in this area, cardiac surgeons continue to make progress in reducing the mortality and multiple comorbidities of patients with congenital heart defects.

Objective: We aimed to present the procedure of intrauterine percutaneous fetoscopic laser valve ablation performed on a fetus diagnosed with lower urinary tract obstruction. Case(s): Bilateral hydroureteronephrosis, dilated bladder and oligo/ anhydramnios were found in the fetal ultrasonography examination of a 21-year-old pregnant woman who did not have regular follow-ups, and the lower urinary tract obstruction consistent with the posterior urethral valve was considered in the case. The patient who was found to have poor prognosis as a result of vesico synthesis carried out consecutively was informed about the follow-up and treatment options, and the posterior urethral valve ablation was performed by the percutaneous fetoscopic laser on 27 weeks of gestation. The amniotic fluid was at normal levels after the procedure, and the labor was carried out at term. The newborn with elevated postpartum creatinine was diagnosed with stage 2 renal failure, but dialysis was not required during the follow-ups. The newborn was discharged for outpatient follow-up upon the reduced creatinine levels. Conclusion: By taking the survival enhancing effect of the intrauterine intervention into account in the presence of lower urinary tract obstruction, we considered that intrauterine intervention can be an option in the cases who prefer to continue their pregnancies. The families should be informed in detail about the benefits and risks of intrauterine intervention to repair the obstruction.

Aim: Congenital atrioventricular block (CAVB) is an immunological condition, secondary to the transfer of maternal Ig G antibodies from seropositive mothers. Although the presence of these antibodies is high among pregnant women, the preva- lence of this fetal pathology is low. The aim of this paper is to analyze a series of cases with intrauterine diagnosis of CAVB and to present their follow-up protocol. Material and method: In the period between 2013-2020, five fetuses were diagnosed and followed up in the Pediatric Cardiology Clinic. In each of the cases, assessment of the hemodynamic status was done by calculation of the fetal cardiovascular profile score (CVPS). In the last cases the follow-up protocol was supplemented with longitudinal speckle tracking evaluation of the ventricular function. Results: In the present series, intrauterine death occurred in one case; in another case resumption of atrioventricular conduction was observed. Epicardial pacemaker implantation was required in three of the patients. Conclusion: Completing the evaluation of ventricular function with the longitudinal speckle tracking method in fetuses and newborn patients with congenital atrioventricular block may play an important role in establish - ing therapeutic behavior.

Resumo Para avaliar a conduta de neonatologistas em casos de malformação incompatível com a vida, do diagnóstico intrauterino ao parto, e a instituição de cuidados paliativos e/ou curativo/restaurativos ao nascimento, com ou sem o conhecimento prévio dos médicos e/ou pais sobre a inviabilidade fetal, realizou-se pesquisa qualitativa em maternidade brasileira. A partir de entrevista semiestruturada e análise de conteúdo, observou-se que a maioria dos profissionais não adota manobras de ressuscitação cardiopulmonar quando a situação já está esclarecida aos pais; que o critério para cuidados paliativos está vinculado ao diagnóstico de certeza da síndrome, mediante a informação da família; que o conhecimento dos pais sobre a doença pode influenciar a tomada de decisão; e que o estabelecimento de cuidados paliativos, no caso de apenas o médico saber da inviabilidade fetal, inclui na maioria dos casos a devida informação aos pais. Abstract To evaluate the behavior of neonatologists in cases of malformation incompatible with life, from intrauterine diagnosis to delivery, and the use of palliative or curative-restorative care at birth, with or without the prior awareness of physicians or parents on fetal infeasibility, we carried out a qualitative research in a Brazilian maternity hospital. From semi-structured interviews and content analysis, we observed that most professionals do not adopt cardiopulmonary resuscitation techniques when the situation is already clear to the parents; that the criteria for palliative care are linked to the confirmation of the syndrome diagnosis, through information to the family; that the parents’ awareness about the disease can influence decision making; and that the establishment of palliative care, if only the physician knows about the fetal infeasibility, in most cases includes due information to parents. Resumen Con el fin de evaluar la conducta de los neonatólogos en casos de malformaciones incompatibles con la vida, desde el diagnóstico intrauterino hasta el parto, y la institución de cuidados paliativos y/o curativos/restaurativos al nacimiento, con o sin el conocimiento previo de los médicos y/o padres sobre la inviabilidad fetal, se llevó a cabo esta investigación cualitativa en una maternidad brasileña. A partir de una entrevista semiestructurada y análisis de contenido, se observó que la mayoría de los profesionales no adoptan maniobras de reanimación cardiopulmonar cuando la situación ya es clara para los padres; que el criterio de cuidados paliativos está vinculado al diagnóstico de certeza del síndrome, a través de la información familiar; que el conocimiento de los padres sobre la enfermedad puede influir en la toma de decisiones; y que el establecimiento de cuidados paliativos, en el caso de que solo el médico sepa sobre la inviabilidad fetal, incluye en la mayoría de los casos la debida información a los padres.

Intrauterine diagnosis of small intestinal volvulus is extremely rare; a small bowel volvulus may be caused, by an atresia or malrotation, and it can also be an etiology for intestinal atresia. Early antenatal diagnosis of fetal intestinal volvulus is difficult. Care full and meticulous prenatal radiological investigations in the experience hand may suggest the diagnosis. We present a male child who presented 9 hours after birth with gangrenous proximal dilated loop volvulus in a type III B intestinal atresia diagnosed intraoperative and was treated successfully. Presence of focal abdominal wall edema in a newborn with intestinal obstruction may suggest this diagnosis.

Introduction This study investigates whether the time of diagnosis of foetal trisomy 21/18/13 and the frequency of termination of pregnancy have changed in the past 10 years. Material and Methods Retrospective study at the Tübingen University Centre for Womenʼs Health in which the cases with ante- and postnatal diagnosis of trisomy were investigated. A prerequisite was that the patients be examined in the antenatal medicine department. The time of diagnosis, the frequency of termination of pregnancy and the gestational age in the case of a termination were assessed. Results Between 2007 and 2017, trisomy 21/18/13 was diagnosed in 498 foetuses and newborns. In 311 of the foetuses or newborns, trisomy 21 was identified; in 134, trisomy 18; and in 53, trisomy 13. The median gestational age at diagnosis in the case of foetuses with trisomy 21 was between 14.4 and 13.6 weeks of pregnancy. The rate of pregnancy terminations increased slightly from 66.7% between 2007 and 2010 to 75.5% between 2015 and 2017. The median gestational age at the time of termination remained constant at 14.9 and 15.0 weeks of pregnancy respectively. The median gestational age at diagnosis in the case of foetuses with trisomy 18/13 was between 13.6 and 14.6 weeks of pregnancy during the examination period. The percentages of affected pregnancies which were terminated in the three time periods increased slightly from 57.4 to 69.0%. The gestational age remained unchanged in this case at 15.0 and 15.1 weeks of pregnancy respectively. Conclusion The time of intrauterine diagnosis of trisomy 21/18/13 has not changed in the past 10 years. The frequency of termination of a pregnancy increased slightly and the time of termination remained unchanged.

At present, prenatal diagnosis is simple, effective, uninvasive and repeatable, so that it has been recognized as the preferred method for prenatal screening of fetal malformations. Antenatal ultrasound has been widely used in clinic, andhas made a great contribution to the screening of fetal malformations.In recent years, dueto the standardization of the ultrasound and the increasing of intrauterine diagnosis technology by ultrasound-doctors, the birth of fetuses with abnormalities of central nervous system is decreasing year by year,and also the detection rate of fetuses with cardiovascular defects become higher and higher.As the ultrasound is widely used in prenatal intrauterine diagnosis, the safety of ultrasonography is also widely concerned.In China,the standard operation of the safety threshold of ultrasonic inspection in prenatal screening and diagnostic ultrasonography has been started.Read Complete Article at ijSciences: V62017111478 AND DOI: http://dx.doi.org/10.18483/ijSci.1478

Rationale: Mesalazine and its prodrug sulfasalazine are both used for inflammatory bowel disease. Sulfasalazine has been associated with hematological side-effects such as aplastic and hemolytic anemia in patients, but also in fetuses after intrauterine exposure. To our knowledge, we describe the first case of a fetus with severe anemia, and subsequent hydrops, where this drug was found at concentrations in the fetus corresponding to those in the mother and most likely responsible for the fetal condition. Patient concerns: A uniparous woman was referred at 31 weeks of gestation due to a hydropic fetus with massive ascites and cardiomegaly. Diagnoses: The patient had Crohn's disease and was thus treated with 4 g mesalazine daily. The fetus had severe anemia with an initial hemoglobin level of 51 g/L. Interventions: The maternal medication was discontinued and four intrauterine erythrocyte transfusions were given during three weeks. Plasma samples were drawn from mother and fetus during cordocentesis for later analysis of mesalazine. Outcomes: A healthy baby was born after 37 full weeks of gestation. Plasma levels of mesalazine were non-conspicuous in neither mother nor fetus. The mesalazine half-life in the fetus (37 h) was half that of the mother (80 h), both considerably longer than previously reported (about 19 h). Lessons: A causal relationship must be suspected between the fetal anemia and the maternal use of mesalazine. This fetal side-effect should be considered in pregnant women on mesalazine (and its prodrug sulfasalazine).

Desde los tiempos de Hipócrates, quien sugirió el origen del L.A. por la orina fetal, pasando por Hardei, quien precisó que el feto deglutía L.A., hasta el tratamiento del polihidramios por punción a fines del siglo pasado, no es sino hasta fechas recientes que la amoniocentesis ha sido valorado como un procedimiento adecuado para obtener L.A. y hacer los análisis más convenientes para investigar al feto en lo que se ha denominado diagnóstico intrauterino.

The progress of molecular genetics led to a revolution in prenatal diagnosis of inherited diseases, which also had affected the dermatology field profoundly. New molecular techniques have replaced fetal skin biopsies, which were previously used. Nowadays, we are standing on the brink of great changes, with the advent of noninvasive assays based on fetal cells and fetal DNA residing in the maternal blood. This review is aimed to give the dermatologist a current overview of the available methods for prenatal diagnosis, with an emphasis on genodermatoses.

A hidropisia fetal é uma doença caracterizada pelo acúmulo anormal de liquido extravascular nos tecidos ou nas cavidades do corpo. Em humanos o diagnóstico é realizado durante o exame ultrassonográfico no pré-natal. Este estudo tem como objetivo reportar o diagnóstico intrauterino de hidropsia fetal em um feto de Poodle num período avançado da gestação, durante um exame ultrassonográfico pré-natal onde foi detectado a presença de efusão pleural e peritoneal. Os achados ultrassonográficos foram confirmados no exame pós-morte do feto.

Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports of the literature.

In this review problems concerning diagnosis and therapy of submucous myomas are discussed. In abnormal blood loss, especially during menstrual periods, it is probable that the submucous locations of fibroids have the strongest relationship with the symptoms. Both in diagnostic and therapeutic possibilities, in the past decennium, a wide range of fine tuning has been developed that has changed dramatically the optimal management of submucous myomas and, therefore, of bleeding abnormalities during premenopause. Over-treatment can thus be prevented: for instance, hysterectomy in menorrhagia caused by a small pedunculated submucous fibroid. New modalities of minimally invasive treatment, however, have specific intrinsic problems that justify the development of protocols for these techniques. For the diagnosis of submucous myoma, and preceding operative treatment, intrauterine diagnosis through ultrasound or hysteroscopic imaging is mandatory. Hysteroscopic treatment of submucous myomas is the method of preference, unless the abnormality is too large or too numerous. Various practical aspects of treatment are discussed. Surgery for abnormalities that are not included in the basic training package according to Goals for the education of gynaecologists, ought to be performed by a gynaecologist with additional training and experience.

Jejunal atresia is an entity within an array of congenital intestinal anomalies. We present a case of antepartum diagnosis of proximal jejunal atresia in a baby conceived through assisted conception.

Objetivo: avaliar o papel da ultra-sonografia obstétrica de rotina no rastreamento pré-natal de cardiopatias congênitas ou arritmias graves e os fatores envolvidos na sua acurácia. Métodos: a amostra foi constituída de 77 neonatos ou lactentes internados no Instituto de Cardiologia do Rio Grande do Sul no período de maio a outubro de 2000, com diagnóstico pós-natal confirmado de cardiopatia estrutural ou arritmia grave, que tinham sido submetidos, durante a vida fetal, a pelo menos uma ultra-sonografia obstétrica após a 18ª semana de gestação. Após consentimento informado, um questionário padronizado foi aplicado. As variáveis categóricas (tipo de cardiopatia e a acessibilidade ecográfica para o diagnóstico, alteração do ritmo cardíaco, número de gestações, paridade, abortamentos prévios, estado civil das gestantes, tipo de parto, área de internação hospitalar, sexo, tipo de serviço onde foi realizado o pré-natal, indicação da ultra-sonografia obstétrica, número de ultra-sonografias realizadas, tipo de serviço onde foi realizada a ultra-sonografia obstétrica, local onde foi realizada a ultra-sonografia obstétrica, renda familiar, escolaridade materna e escolaridade paterna) foram comparadas pelo teste do chi² ou pelo teste exato de Fisher e um modelo de regressão logística foi utilizado para determinar variáveis independentes eventualmente envolvidas na suspeita pré-natal de cardiopatia. Resultados: em 19 pacientes (24,7%), a ultra-sonografia obstétrica foi capaz de levantar suspeita de anormalidades estruturais ou de arritmias. Ao serem consideradas apenas as cardiopatias congênitas, esta taxa foi de 19,2% (14/73). Em 73,7% dos pacientes com suspeita de anormalidades cardíacas durante a ultra-sonografia obstétrica, as cardiopatias suspeitadas eram acessíveis ao corte de 4 câmaras isolado. Observou-se que 26,3% das crianças com suspeita pré-natal de cardiopatia apresentaram arritmias durante o estudo ecográfico, ao passo que apenas 3,4% dos pacientes sem suspeita pré-natal apresentaram alterações do ritmo (p=0,009). Constituíram fatores comparativos significantes entre o grupo com suspeita pré-natal e o sem suspeita a paridade (p=0,029), o parto cesáreo (p=0,006), a internação em unidade de tratamento intensivo (p=0,046) e a escolaridade paterna (p=0,014). À análise multivariada, apenas a presença de alteração do ritmo cardíaco durante a ultra-sonografia obstétrica mostrou-se como variável independente associada à suspeita pré-natal de anormalidade cardíaca. Conclusões: a ultra-sonografia obstétrica de rotina ainda tem sido subutilizada no rastreamento pré-natal de cardiopatias congênitas. O treinamento dirigido dos ultra-sonografistas e a conscientização do meio obstétrico e da própria população podem ser os instrumentos para aumentar a eficácia deste método. Purpose: to evaluate the role of routine obstetrical ultrasound scan in suspecting the presence of fetal congenital heart diseases and severe arrhythmias, as well as the factors involved in its accuracy. Methods: the sample was made up of 77 neonates and infants hospitalized at the Institute of Cardiology of Rio Grande do Sul from May to October of 2000, with confirmed postnatal diagnosis of structural heart disease or severe arrhythmia, whose mothers had been submitted to at least one obstetrical ultrasound scan after 18 weeks of gestation. After informed consent, a customized standard questionnaire was used. Categorical variables were compared using chi² test or Fisher's exact test and a logistic regression model was used to determine independent variables possibly involved in the prenatal suspicion of cardiac abnormalities. Results: in 19 patients (24.6%), obstetrical ultrasound was able to rise prenatal suspicion of structural or rhythm abnormalities. Considering only congenital heart diseases, this prevalence was 19.2% (14/73). In 73.7% of these cases, the cardiac disorder was accessible by the four-chamber view alone. Arrhythmias during obstetrical scan were observed in 26.3 of the babies with prenatal suspicion of a heart abnormality, while only 3.4% of the patients without prenatal suspicion showed a rhythm alteration (p=0.009). Significant differences between the groups with and without prenatal suspicion of cardiac abnormalities were observed in relation to parity (p=0.029), delivery by cesarean section (p=0.006), need for intensive care (p=0.046) and school education level of the father (p=0.014). At multivariate analysis, only the presence of a rhythm alteration during ultrasound scan was shown to be an independent variable associated with prenatal suspicion of cardiac abnormalities. Conclusions: routine obstetrical ultrasound has been underused in prenatal screening of congenital heart diseases. Adequate training and making obstetricians and the population a ware of the problem may be instruments for increasing the efficacy of routine obstetrical ultrasound in rising the suspicion of fetal cardiac abnormalities.

Teratomas are embryonal neoplasms that arise when totipotential germ cells escape the developmental control of primary organizers and give rise to tumors containing tissue derived from all three blastodermic layers. Teratomas have been reported to occur in various sites and organs. Teratoma of the cervical neck are relatively rare in adulthood. It usually extends from the neck to the thoracic cavity causing local mass effect. In most of the cases intrauterine diagnosis is possible by ultrasound. Because of dyspnea due to mass effect, this condition is treated promptly after birth. However cases of teratoma in adulthood with supraclavicular localization have been reported rarely in the literature. The presented case is of a 25-year-old female with a cervical mass. Histological examination revealed a benign mature teratoma. The patient has been disease free for more than nine years after surgical removal of a neck teratoma.

Two interesting cases of cystic hygroma are being reported. One presented with dyspneoa and the other one with macroglosia and mediastinal cystic hygroma. The foetal chromosomal anomalies associated with cystic hygroma, intrauterine diagnosis and treatment of cystic hygroma as well as pathogenesis, classification, surgical and non-surgical management of cystic hygroma has been discussed in detail in the review of the literature.

Sternal cleft is a rare chest wall deformity. It can be diagnosed in the intrauterine stage with ultrasonography. Newborn period is the optimal time for the surgical correction of sternal cleft, due to the elasticity of the sternum and minimal compression of underlying structures. Here we reported a newborn patient with sternal cleft which has been operated 5 days after labor. Good surgical outcome and long-term results were accomplished.

Objetivo: avaliar o papel da ultra-sonografia obstétrica de rotina no rastreamento pré-natal de cardiopatias congênitas ou arritmias graves e os fatores envolvidos na sua acurácia. Métodos: a amostra foi constituída de 77 neonatos ou lactentes internados no Instituto de Cardiologia do Rio Grande do Sul no período de maio a outubro de 2000, com diagnóstico pós-natal confirmado de cardiopatia estrutural ou arritmia grave, que tinham sido submetidos, durante a vida fetal, a pelo menos uma ultra-sonografia obstétrica após a 18a semana de gestação. Após consentimento informado, um questionário padronizado foi aplicado. As variáveis categóricas (tipo de cardiopatia e a acessibilidade ecográfica para o diagnóstico, alteração do ritmo cardíaco, número de gestações, paridade, abortamentos prévios, estado civil das gestantes, tipo de parto, área de internação hospitalar, sexo, tipo de serviço onde foi realizado o pré-natal, indicação da ultra-sonografia obstétrica, número de ultra-sonografias realizadas, tipo de serviço onde foi realizada a ultra-sonografia obstétrica, local onde foi realizada a ultra-sonografia obstétrica, renda familiar, escolaridade materna e escolaridade paterna) foram comparadas pelo teste do χ2 ou pelo teste exato de Fisher e um modelo de regressão logística foi utilizado para determinar variáveis independentes eventualmente envolvidas na suspeita pré-natal de cardiopatia. Resultados: em 19 pacientes (24,7%), a ultra-sonografia obstétrica foi capaz de levantar suspeita de anormalidades estruturais ou de arritmias. Ao serem consideradas apenas as cardiopatias congênitas, esta taxa foi de 19,2% (14/73). Em 73,7% dos pacientes com suspeita de anormalidades cardíacas durante a ultra-sonografia obstétrica, as cardiopatias suspeitadas eram acessíveis ao corte de 4 câmaras isolado. Observou-se que 26,3% das crianças com suspeita pré-natal de cardiopatia apresentaram arritmias durante o estudo ecográfico, ao passo que apenas 3,4% dos pacientes sem suspeita pré-natal apresentaram alterações do ritmo (p=0,009). Constituíram fatores comparativos significantes entre o grupo com suspeita pré-natal e o sem suspeita a paridade (p=0,029), o parto cesáreo (p=0,006), a internação em unidade de tratamento intensivo (p=0,046) e a escolaridade paterna (p=0,014). À análise multivariada, apenas a presença de alteração do ritmo cardíaco durante a ultra-sonografia obstétrica mostrou-se como variável independente associada à suspeita pré-natal de anormalidade cardíaca. Conclusões: a ultra-sonografia obstétrica de rotina ainda tem sido subutilizada no rastreamento pré-natal de cardiopatias congênitas. O treinamento dirigido dos ultrasonografistas e a conscientização do meio obstétrico e da própria população podem ser os instrumentos para aumentar a eficácia deste método. Purpose: to evaluate the role of routine obstetrical ultrasound scan in suspecting the presence of fetal congenital heart diseases and severe arrhythmias, as well as the factors involved in its accuracy. Methods: the sample was made up of 77 neonates and infants hospitalized at the Institute of Cardiology of Rio Grande do Sul from May to October of 2000, with confirmed postnatal diagnosis of structural heart disease or severe arrhythmia, whose mothers had been submitted to at least one obstetrical ultrasound scan after 18 weeks of gestation. After informed consent, a customized standard questionnaire was used. Categorical variables were compared using χ2 test or Fisher’s exact test and a logistic regression model was used to determine independent variables possibly involved in the prenatal suspicion of cardiac abnormalities. Results: in 19 patients (24.6%), obstetrical ultrasound was able to rise prenatal suspicion of structural or rhythm abnormalities. Considering only congenital heart diseases, this prevalence was 19.2% (14/73). In 73.7% of these cases, the cardiac disorder was accessible by the four-chamber view alone. Arrhythmias during obstetrical scan were observed in 26.3 of the babies with prenatal suspicion of a heart abnormality, while only 3.4% of the patients without prenatal suspicion showed a rhythm alteration (p=0.009). Significant differences between the groups with and without prenatal suspicion of cardiac abnormalities were observed in relation to parity (p=0.029), delivery by cesarean section (p=0.006), need for intensive care (p=0.046) and school education level of the father (p=0.014). At multivariate analysis, only the presence of a rhythm alteration during ultrasound scan was shown to be an independent variable associated with prenatal suspicion of cardiac abnormalities. Conclusions: routine obstetrical ultrasound has been underused in prenatal screening of congenital heart diseases. Adequate training and making obstetricians and the population a ware of the problem may be instruments for increasing the efficacy of routine obstetrical ultrasound in rising the suspicion of fetal cardiac abnormalities.

The widespread use of routine antenatal ultrasound has relatively increased the frequency of intrauterine diagnosis of ovarian cysts. In utero adnexal torsion may present with subsequent autoamputation in some of these lesions. Prenatal and postnatal ultrasonographic findings, however, may not always be relevant in making the correct diagnosis. The authors report on two cases with prenatally-diagnosed hypoechogenic cystic masses. The cysts failed to resolve after a period of conservative management. A laparoscopic approach revealed ovarian autoamputation presenting as cystic mass. Preoperative ultrasound, abdominal CT and MRI failed to detect the presence of autoamputation. The present report discusses the possibility of an otherwise silent ovarian autoamputation, which may necessitate laparoscopic intervention for correct diagnosis, in neonates presenting with persistent ovarian cysts.

Chondrodysplasias are rare occurrence. We present a case of short-limbed chondrodyplasia diagnosed in a 22 week fetus of a 28 year old. She was para 4(+0) with two children alive. She had similar occurrences in her last two pregnancies. The index pregnancy and the last two eventful pregnancies were preceded with ingestion of trado-herbal drug to treat subfertility.

Meconium peritonitis usually results from perforation of the intestine occurring in utero or shortly after birth. The common features of meconium peritonitis on prenatal ultrasonography are a solitary calcified mass or disseminated intraperitoneal calcifications, ascites, pseudocyst, and occasionally polyhydramnios and fetal hydrops. We report a case where prenatal ultrasound revealed a calcified mass in the right upper quadrant of the abdomen. Subsequent magnetic resonance imaging (MRI) suggested simple meconium peritonitis. Fetal MRI is considered to be reliable for demonstrating meconium peritonitis. Prenatal diagnosis of meconium peritonitis and identification of associated malformations facilitate planning of delivery, earlier surgical counseling, and better neonatal outcome.

CONTEXT AND OBJECTIVE: Intrauterine adhesion (IUA) is a possible complication of uterine curettage following abortion. Because IUA is an important cause of infertility, some investigators have been advocating its inclusion in the routine investigational workup after every abortion curettage procedure. The aim of this study was to evaluate the uterine cavity of patients subjected to abortion curettage, in order to ascertain the prevalence of IUA and its association with social and clinical factors. DESIGN AND SETTING: This was a cross-sectional study at the Human Reproduction Unit, Department of Obstetrics and Gynecology, Universidade Estadual de Campinas (Unicamp). METHODS: A total of 109 women were enrolled. The investigators searched the records of Unicamp's hospital for patients who had been subjected to uterine curettage following abortion. The hysteroscopy was performed 3 to 12 months after the curettage. The correlations between patients' characteristics and the prevalence of IUA were assessed by means of chi-squared and Fisher's exact test calculations. RESULTS: The prevalence of IUA was 37.6%. The number of previous abortions and curettage procedures did not correlate with the presence of IUA. Most of the women (56.1%) presented IUA grade I. CONCLUSIONS: In the present study, 37.6% of the women subjected to curettage following abortion had IUA, which was mostly mucous and grade I. None of the demographic and clinic characteristics evaluated were found to be associated with IUA. From this study, there is no firm evidence to justify carrying out routine diagnostic hysteroscopy following abortion evacuation. CONTEXTO E OBJETIVO: As sinéquias uterinas são complicações que podem ocorrer após curetagem uterina por aborto. Como se trata de causa importante de infertilidade, muitos autores têm indicado uma investigação rotineira após curetagens uterinas por aborto. O objetivo do estudo foi avaliar a cavidade uterina de pacientes submetidas a curetagem após aborto para detectar a prevalência das sinéquias e a possível associação com alguns fatores sociais e clínicos. TIPO DE ESTUDO E LOCAL: Estudo de corte transversal, realizado na Unidade de Reprodução Humana do Departamento de Ginecologia e Obstetrícia da Universidade Estadual de Campinas (Unicamp). MÉTODOS: 109 mulheres foram submetidas a histeroscopia diagnóstica ambulatorial 3 a 12 meses após curetagem por aborto. Dados clínicos foram obtidos dos prontuários médicos. As correlações entre as características clínicas e a prevalência de sinéquias uterinas foram testadas através do cálculo do qui-quadrado e do teste exato de Fisher. RESULTADOS: A prevalência de sinéquias foi de 37,6%. O número de abortos anteriores e de curetagens não se correlacionou com a presença de sinéquias. A maioria das mulheres (56,1%) apresentou sinéquias grau I. CONCLUSÕES: Neste estudo, 37,6% das mulheres submetidas a curetagem por aborto apresentaram sinéquias, a maioria delas do tipo mucoso e de grau I. Nenhuma das características clínicas e demográficas avaliadas associou-se às sinéquias. Os resultados deste estudo não autorizam indicação rotineira de histeroscopia diagnóstica em pacientes submetidas a curetagem uterina por aborto.

Intrauterine Diagnosis: Comparative Enzymology of Cells Cultivated from Maternal Skin, Fetal Skin, and Amniotic Fluid Cells

Five disorders of collagen have been characterized. In four of these disorders the patients have had symptoms of Ehlers Danlos. Three families with lysyl hydroxylase deficiency have previously been reported. We are reporting an additional case diagnosed in infancy. This infant was investigated as a floppy baby but nerve and muscle were normal. Lysyl hydroxylase activity measured in sonicates of dermal fibroblasts was 10% of normal. The deficiency of hydroxylysine results in abnormal cross-linking of collagen molecules which may account for the symptomatology. The patient we are reporting eventually developed symptoms of Ehlers Danlos. This type of Ehlers Danlos is an autosomal recessive disorder in which one might expect to make an intrauterine diagnosis. Collagen abnormalities may thus be a cause of floppy baby syndrome and the delineation of a specific defect should be the goal of diagnostic studies.

Intrauterine diagnosis places upon the physician the responsibility for making a diagnosis and a prognosis for an individual he has not seen or examined. Prognostication for a fetus with sex chromosomal aneuploidy (SCA) is particularly difficult and varies tremendously in various centers and in various parts of the world. As a result, the message patients get from their counselors and what action patients take varies greatly in different parts of the country. The author has received 86 telephone consults either from counselors or patients from various parts of the U.S.A. and Canada and has followed up the actions taken by these consultands. Two-thirds of couples, who represent a biased selection, have continued the pregnancy, irrespective of the fetal karyotype. The nature of the prognosis and future management of these high risk fetuses, especially the impact of environmental factors and long-term support, will be discussed.