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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.

Overview Objective: The aim of this review article is to provide a practical and concise overview of dia­gnosis and management of pregnancy with fetal lower urinary tract obstruction. Methods: Review of literature and current studies. Conclusion: Proper dia­gnosis and management of isolated fetal lower urinary tract obstruction with oligohydramnios allows appropriate implementation of intrauterine treatment in indicated cases. The treatment is a prevention of pulmonary hypoplasia and also improves renal function; this finally contributes to the improvement of overall perinatal morbidity and mortality. Keywords: fetal lower urinary tract obstruction – posterior urethral valve – vesicoamniotic shunting – fetal cystoscopy

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

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.

The internal and external interorbital diameters are measured during pregnancy. A case of holoprosencephaly was diagnosed via ultrasound on the basis of the reduction of both diameters.

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.

Congenital brain tumours are a rare entity that is nowadays often already recognised during pregnancy by ultrasound (US) and magnetic resonance (MR). Even though the definitive diagnosis is usually achieved by means of histological studies, in some cases the diagnosis may remain uncertain because of the malformative origin of this type of tumour.We describe a patient with a diffuse congenital intracranial mass diagnosed by intrauterine US and foetal MR performed to further evaluate the lesion and the associated foetal hydrocephalus. After delivery by caesarean section, an endoscopic biopsy was performed. Several specimens were obtained and resulted in the diagnosis of primitive neuroectodermal tumour (PNET). Despite polychemotherapy, the tumour continued to enlarge and the patient died at 2 months of age. Post-mortem histological examination of the intracranial mass showed a diffuse intracranial teratoma.Endoscopic biopsy specimen examination resulted in a diagnosis that was not confirmed by post-mortem findings. The scarce differentiation of teratoma components and their high variability in histomorphology as well as the huge size of the tumoral mass may limit the interpretation of endoscopic biopsy specimens, even when multiple and obtained from different areas.

The management of congenital CNS anomalies differs among countries. This paper reports on a worldwide survey of individual experience and regimens for treating spina bifida (SB) in different patient populations and cultural backgrounds. Ten representative members of the International Society for Pediatric Neurosurgery (ISPN) in individual countries registered their experience, prenatal management, and care system for SB. The information collected contained the following major items: intrauterine diagnosis, prophylaxis, and legal termination in prenatal management. The prenatal diagnosis of SB is extensively performed throughout the world, but the marker alpha-fetoprotein is not widely accepted in Asia, nor is the prophylactic administration of folic acid, which is not part of the routine care in Asia. Morphological analyses by neuroimaging, especially using an advanced technique of magnetic resonance imaging (MRI), are well developed in Asian countries, e.g., Japan and Korea. The prenatal management of SB fetuses differed depending upon the region, i.e., more support for aggressive and intensive treatment in Asia than in Europe and North America. The regional and racial difference in management of and care for spina bifida fetuses will be discussed further based on the data analysis.

With improvements in imaging techniques, in addition to the trend toward routine prenatal ultrasound scanning, the intrauterine diagnosis of fetal ovarian cysts is encountered more frequently. We describe the laparoscopic management of a cystic ovarian mass in a 2-month-old girl that was diagnosed prenatally. The histopathology of the cyst wall suggested gonadoblastoma.

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.

Advances in prenatal diagnostic techniques allow for earlier, more rapid, and more effective detection of congenital disorders. The indications, diagnostic accuracy, and risks for invasive diagnostic techniques including amniocentesis, chorionic villus sampling, and fetal blood sampling are reviewed. Recent advances in non-invasive detection methods, such as fetal ultrasound and the isolation of fetal cells in the maternal circulation are discussed. Additionally, the intrauterine diagnosis of congenital infections and chromosomal and Mendelian disorders, as well as hematologic disorders are summarized.

Hydrocephalus is one of the most common congenital anomalies affecting the central nervous system especially in developing countries for several reasons including prohibition of abortion in many countries. The technological advances in methods of intrauterine diagnosis of congenital malformation made it possible to detect early enlargement of the ventricles and diagnose hydrocephalus as early as 15 weeks of gestational age. Many trials of intrauterine shunting proved unsuccessful, mainly because of complications such as intra- or extracranial shunt migration, obstruction, infection, and malposition.The author is presenting a case of a successful ventriculo-amniotic shunt utilizing Al-Anazi ventriculo-uterine shunt, which is easy to implant. It has a one-way valve to prevent amniotic fluid backflow and special wings to prevent shunt migration, which are both relatively short and wide to reduce the possibility of malfunction and the risk of infection because there is no exposure with the external environment.Our successful trial showed that Al-Anazi ventriculo-uterine shunt might be the first step in treating congenital hydrocephalus.

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.

Fetal goiter can be the result of maternal hyperthyroidism treated with antithyroid drugs. Polyhydramnios may be the presenting symptom and can be diagnosed prenatally by sonography. We report a case of fetal goiter diagnosed at 30 weeks of gestation and fetal hypothyroidism confirmed by cordocentesis. Intra-amniotic levothyroxine was administered. Onset of preterm labor could not be prevented. The risks and benefits of intrauterine treatment of fetal goitrous hypothyroidism are discussed.

Neurenteric cysts are rare congenital anomalies derived from the notochord and located in front of the spinal column, mostly at the cervical level. They consist of an intraspinal cystic component that is connected to a mediastinal or thoracic cyst. A case of a cervical, intraspinal, neurenteric cyst, diagnosed at 28 weeks of gestation and operated on at 3 and half months after birth, is reported. Herein, we discuss important features of this case including its rare occurrence, intrauterine diagnosis, and early surgical intervention. In conclusion, the nature of prenatal intradural cysts should be fully evaluated and differentiated between neurenteric cyst and other types of cysts with fetal ultrasonography. Therefore, it is essential to be aware of this potential cyst in fetal ultrasonography in utero. Neurenteric cyst should be considered in the differential diagnosis of cervical intradural cystic lesions. In infants, successful surgery provides a cure in patients with cervical neurenteric cysts.

During a 2-year period, 5476 normal routine obstetrical ultrasound investigations were performed in the 2nd trimester (16th to 20th week). Data on biparietal diameter (BPD), abdominal diameter (AD) and femur length (FL) have been obtained from this material. Ratios between BPD/AD and BPD/FL have been calculated, and from these ratios, graphs were constructed. Only nine normal fetuses (0.2%) were found to be outside mean +/- 3 SD, and none of the normal cases were +/- 4 SD, so this is perhaps a better guideline for those warranting further investigation. To evaluate if these ratios could better reflect disproportional fetal growth, three cases of triploidy and four cases of dwarfism were tested against these ratios. Triploidy was obvious on the BPD/AD graph and dwarfism on the BPD/FL graph. The ratios were not found to be conclusive in the intrauterine diagnosis of trisomy 21 or of trisomy 18, as only 4 of 17 cases were obvious on the graphs.

Primary intracranial teratomas are rare germ cell tumors arising from embryonic tissues, which contain cellular or tissue derivates from all three germ layers. Today the early intrauterine diagnosis by ultrasound is possible. We first describe a patient with such a tumor which was diagnosed by routine ultrasound in the 33rd week of gestational age in a twin-pregnancy, of which the 2nd twin developed normally. This must be considered in the obstetrical situation. In such a case the parents should be advised accordingly.

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.

With the improvement of imaging techniques as well as the trend toward routine antenatal ultrasound scanning, the intrauterine diagnosis of fetal ovarian cysts is encountered more frequently. The authors described the laparoscopic approach to the management of ovarian cysts. This approach is tolerated well by infants, and it may overcome the controversy between conservative and early surgical management by facilitating the subtle transition from diagnostic to therapeutic means, with salvation of the ovary whenever possible.

The value of improved intrauterine diagnostic capability is unquestioned; however, as with all new technologic advancements, the problems created by this new diagnostic tool need review. This article examines some of the more critical of these difficulties.

A case of Dandy-Walker-syndrome is presented, comparing the value of sonography and CT in intrauterine diagnosis. Together with a review of the literature of the subject, pathogenesis, morphology and prognosis in regard to the psychomotoric development are discussed.

The pediatrician must be knowledgeable regarding the general principles of genetics and their application to common diseases; should recognize the importance of an accurate family history, which, in most instances, need not be more than two or three generations of immediate relatives, and be able to obtain and interpret such; should recognize unusual clusters of disease, such as early onset coronary artery disease or cancer, and question the possible implications; should be aware of the fact that specific genetic diseases may be more common in certain ethnic and racial groups; should be able to counsel patients, including families, for common disorders and refer complicated cases to appropriate experts; should recognize the possibility of a genetic disorder and obtain appropriate specimens for analysis or refer such patients to experts; should be knowledgeable regarding [See figure in the PDF file] genetic screening in general and be aware of specific recommendations including newborn screening and carrier detection; should be familiar with indications for intrauterine diagnosis; and should be aware of the back-up resources for diagnosis, counseling, and treatment in the community.

Between June 1979 and June 1984 the authors observed 40 fetal arrhythmias in 11,122 births (0.36%). Initially there were problems of differential diagnosis with cardiotokography and fetal abdominal ECGs. However, these problems were surmounted with real-time sonography, supplemented with split-image echocardiography (M-mode technique) with video recording. In three-quarters of the cases supraventricular and ventricular extrasystoles were found. These forms of arrhythmias were clinically harmless. Follow-up examinations of the children confirmed the favorable long-term prognosis. One-quarter of the arrhythmias were high-risk cases. Supraventricular tachycardias, total AV block, sinus tachycardia and bradycardia, and congenital atrial fibrillation were found. There were five cardiac abnormalities in this group. Heart failure occurred in six fetuses and neonates. Four of ten infants died. Three infants remained in pediatric cardiologic care. In the light of the authors' experience, it is still too early to invest great hope in intrauterine treatment of the fetus. Intrauterine diagnosis at the earliest possible time and intensive cardiologic care, starting immediately after birth, can improve the prognosis in cases with high-risk arrhythmias.

Summary A primigravida presenting with hydramnios at 34 weeks' gestation was found to have distended fluid-filled spaces inside the fetal abdomen on ultrasonic B scan. Amniography showed a normal fetal soft-tissue outline and normal scalp thickss with the absence of contrast medium in the fetal gastro-intestinal tract at two-and-a-half hours. It is suggested that this combination of findings is, if not diagnostic, at least highly suggestive of duodenal atresia and that the intrauterine diagnosis of this condition may enable corrective surgery to be carried out early before neonatal electrolyte disturbances affect the prognosis.

Amniocentesis for intrauterine diagnosis of genetic disease is a safe and highly accurate procedure. This is most fortunate since the timing of the procedure (14 to 16 weeks) and the length of time necessary to cultivate the cells and perform the analysis (3 to 5 weeks) makes it almost mandatory, and almost unique in medicine, that patient management be based on a single non-repeated laboratory procedure. It should be recommended to all patients for whom there is a specific indication for antenatal genetic studies.