Ultrasound prenatal diagnosis of fetus in fetu.

A case of fetus in fetu was diagnosed prenatally using ultrasound. The differential diagnosis between a fetus in fetu and a highly differentiated teratoma is discussed. The importance of prenatal diagnosis of fetus in fetu and the effect on subsequent management are described.     

Limitations of informed consent for in utero gene transfer research: implications for investigators and institutional review boards

Only 10 years after the first human gene transfer protocols were approved for adults and children, researchers have begun to consider gene transfer on the fetus. While preliminary animal research is ongoing, the enthusiasm and pace of research in this area suggest that human protocols for in utero gene transfer research may be seriously considered in the foreseeable future. Federal guidelines for fetal research rely on minimizing risk and informed consent to protect the "rights and welfare" of both the fetus and pregnant woman. However, in utero gene transfer research poses special challenges to informed consent. This research represents an innovative approach for very ill subjects and takes place in the prenatal setting. These features may converge to undermine the expectant parents' comprehension of, and voluntariness for participation in, research. In this case, informed consent may not be able to bear the weight of adequately protecting the fetus from undue research risks. To compensate for this limitation, and using the regulations for pediatric research as a guide, a greater emphasis should be placed on the benefit/harm assessment rather than informed consent. Selecting diseases/patients where good alternative treatments exist may maximize informed consent, yet this may be a trade-off that exposes the fetus to greater relative risks. On the other hand, selecting diseases/patients without good alternative treatments to prolong life may convey an overestimation of the potential benefits of these interventions, and although care should be taken to strive to improve understanding of these limitations, misunderstanding may persist. However, selecting diseases/patients with no good alternatives might make serious risks more tolerable, and this should take precedence over informed consent. The limitations of informed consent brought into focus by the special features of in utero gene transfer research may be relevant to a broader range of innovative investigations.     

Sonographic prenatal diagnosis of intracranial fetus in fetu.

A case of sonographic prenatal diagnosis of a complex intracranial mass, with features of a fetus in fetu at 17 weeks' gestation, is reported. This diagnosis is reserved for a highly organized tumor containing a vertebral column and recognizable fetal parts and should be differentiated from a teratoma.     

Fetus in fetu: a rare cause of a neonatal mass.

Fetus in fetu is an unusual digression from the normal twinning process which often presents as a mass in neonates. Approximately 80 reports have been documented in the literature to date. The increasing use of routine obstetric ultrasound has identified more cases during the antenatal period. This allows more time for both the neonatology team and the parents to develop a coordinated treatment plan for the anticipated child. We report a case of a fetus in fetu which was first seen as a complex cystic mass during antenatal ultrasound at 21 weeks and was confirmed by subsequent imaging and surgical treatment shortly after birth.     

Fetus-in-fetu: imaging and pathologic findings

A 3.5-month-old boy was hospitalized because of an abdominal mass found accidentally. On physical examination, a smooth, firm, nontender mass was present in the right upper quadrant. Abdominal ultrasonography revealed a large, hyperechoic, heterogenous mass with clear boundaries, and scarce blood flow. Abdominal CT scan showed a bulky right retroperitoneal mass. Three-dimensional CT imaging demonstrated spine, iliac bone, and long bones of limbs. The mass was excised successfully. After opening the sac it was noted to contain an incompletely developed fetus with grossly visible limbs, clearly discernible male genitalia, hairs, and a poorly formed head. The fetus was connected to the sac via an 8 cm cord-like structure. Microscopic examination of the mass revealed the presence of skin, cartilage, bone, intestine, and cysts with simple cuboidal epithelium. The use of CT scans enhanced the accuracy of pre-operative diagnosis. Identification of the vertebral column and the long bones of limbs are important indications for the diagnosis. Pathologically, fetus in fetu has many characteristics different from teratoma.     

超声诊断胎儿法洛四联症的技巧探讨

目的 寻求产前超声诊断胎儿法洛四联症的最佳方法与技巧,提高其产前诊断率.方法 回顾性分析160例法洛四联症胎儿心脏超声资料,对各切面超声特点进行分析,总结出最佳检查切面和技巧.结果 在四腔心切面基础上结合五腔心切面、心室流出道切面、主动脉根部短轴切面及动脉导管弓切面超声诊断胎儿法洛四联症158例,其中150例经产后尸检证实,7例经产后超声证实,1例胎儿宫内死亡（引产后尸检证实）;漏诊2例轻型法洛四联症.结论 胎儿心脏超声检查对诊断法洛四联症具有重要的临床意义.检查过程中应在四腔心切面基础上结合五腔心切面、心室流出道切面、主动脉根部短轴切面及动脉导管弓切面共同做出诊断.     

Red cell autoantibody production in utero: a case report

BACKGROUND: Autoantibody production by the fetus is thought to be extremely unlikely. Only one possible case of in utero autoantibody production against red cells by the fetus has previously been described. STUDY DESIGN AND METHODS: A case of apparent red cell IgG autoantibody production in utero is reported. RESULTS: This was established by a positive direct antiglobulin test in a newborn infant without evidence of maternal alloantibodies or autoantibodies. There was no evidence of clinically significant hemolysis at the infant's birth. After 6 weeks, his direct antiglobulin test remained strongly positive. The infant thrived without evidence of hemolysis, and after 6 months the direct antiglobulin test was negative. CONCLUSION: The production of autoantibodies to red cells in utero is possible, though rare. This did not result in apparent hemolysis in this patient.     

A multidisciplinary approach to prenatal treatment of congenital long QT syndrome

A 27‐week fetus evaluated for bradycardia and hydrops was found to have anti‐SSA‐negative 2° atrioventricular block and ventricular tachycardia. A presumptive diagnosis of fetal long QT syndrome was made. Transplacental pharmacotherapy with intravenous magnesium and lidocaine restored sinus rhythm. At 30 6/7 weeks, the infant was delivered due to premature labor. Despite postnatal treatment with mexiletine and propranolol, she developed torsades de pointes. Ultimately, a de novo KCNH2 G628S mutation was diagnosed. She received an implantable cardiac defibrillator at 5 months of age. Early diagnosis and a multidisciplinary approach allowed successful in utero treatment and anticipatory postnatal management. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45 :168–170, 2017     

Prenatal sonographic detection of pericardial teratoma

Patients with pericardial teratomas usually present shortly after birth with cardiorespiratory distress or in utero with hydrops fetalis. We report a case in which the tumor was diagnosed in utero using sonography during a routine obstetric examination. Sonograms showed a 3-cm echogenic mass compressing the right atrium. The lesion was inhomogeneous with solid and cystic areas. The fetus was followed to term, and additional radiologic studies were performed before the infant underwent surgery. Prenatal identification of a pericardial teratoma is essential for planning fetal management and delivery and potential prenatal surgery.     

Fetal weight estimates in diabetic gravid women

Fetal weight in utero was estimated sonographically within one week of delivery in 70 live-born fetuses of diabetic gravidas. The best estimates of weight were obtained with formulas dependent on biparietal diameter, abdominal circumference, and femur diaphysis length, and with formulas using the two variables of femur diaphysis length and abdominal circumference. Use of a special formula for the fetus of a diabetic mother was not of additional benefit. Acceptable weight estimates for the macrosomic diabetic fetus were not obtained.     

Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates.

Prenatal diagnosis has been successfully achieved by enzyme assays in cultured amniocytes in three high risk pregnancies for Gaucher's disease and three for Niemann-Pick disease type A. [14C]Stearic acid glucocerebroside and [3H]-dihydrosphingomyelin were used as substrates for glucocerebrosidase and sphingomyelinase activity measurements, respectively. Values for the above two enzyme levels in cultured amniotic fluid cells of normal controls and in the pregnancies at risk are presented. The diagnosis made in utero in one fetus affected with Niemann-Pick disease was subsequently confirmed following abortion (at 19 weeks gestation), by the specific biochemical and pathological features of various organs of the afflicted fetus (to be published). Confirmation of diagnoses made in utero for heterozygous and healthy fetuses was obtained by post-partum examination of glucocerebrosidase and spingomyelinase activity levels in leukocytes of the appropriate infants.     

Rare occurrence of a holoacardious acephalic monster: sonographic and pathologic findings.

Sonography is gaining increasing importance in the diagnosis of anomalies in utero. Findings such as anencephaly, hydrocephaly, sacrococcygeal teratoma, fetal ascites, and obstructive uropathy have been described. Detection of anomalies such as these are important in the management of the pregnancy and aid in the preparation for the postnatal care or treatment of the fetus. While this article deals with the dramatic findings of a grossly anomalous fetus of a twin pregnancy, the ultimate value of ultrasound is its potential for detecting correctable malformation in a safe, noninvasive, and harmless manner.     

Visualization of the fetal genitalia by ultrasonography: a review of the literature and analysis of its accuracy and ethical implications

The results of the ultrasonographic determination of fetal gender in utero in 722 fetuses (13-35 weeks' gestation) are described, demonstrating that fetal genitalia can be seen in 60.5 per cent of those examined before the eighteenth week, and in 100 per cent of those examined twice or once after 20 weeks of gestation. All errors (3.04 per cent) of gender assignment occurred before the twenty-fourth week. When the fetus was examined for the first time at 17 weeks, the genitalia were visualized and correctly diagnosed in 282 males and 155 females; nine males and 13 females were incorrectly diagnosed. Ultrasonographic determination of fetal gender in utero is an integral part of the prenatal diagnosis of sex maldefinition, testicular feminization, and campomelic dysplasia. It has proved to be a reliable marker in determining whether each sac has been sampled in multiple pregnancies (when each fetus is in a different sac) if ultrasonographically assigned sex per twin corresponds to its karyotype. The determination of fetal gender in utero by ultrasonography allows for gender selection; some of its ethical implications are considered.     

Recognition of the hydropic fetus by gray scale ultrasound

The use of gray scale B mode provides more effective visualization for sonographic evaluation of fetal ascities. Two cases of severely Rh isoimmunized fetuses with hydrops and one fetus with hydrops secondary to chylous ascites are presented to show the ultrasonic features of diagnosis of fetal edema and ascites. Thus, ultrasonic evaluation in known cases of Rh isoimmunization or diabetes provides additional information on the status of the fetus in utero and rapid recognition of fetal hydrops. This additional information aids in the management of the pregnancy and in the determination of the time of delivery.     

血管多普勒超声预测不良妊娠结局

妊娠高血压、糖尿病和其他可能导致母体和胎儿血液循环异常的妊娠并发症均可导致不良妊娠结局.多普勒超声可通过测量母体及胎儿重要血管血流动力学参数评估宫内胎儿情况,及时为临床诊断和治疗提供依据.本文对血管多普勒超声预测不良妊娠结局临床应用进展进行综述.     

Prenatal Diagnosis of Cardiovascular Disease

Technological advances in ultrasound have led to a greater ability to monitor the internal life of the fetus. This has led to fascinating discoveries of fetal physiology as well as to the natural progression of some cardiac defects while in utero. Watching this progression has stimulated the medical/research community to find ways to intervene in those cardiac defects with the highest morbidity and mortality. Although still in the early stages, the challenge continues to be explored in an attempt to stop progression to a more significant defect in utero. This article explores the diagnosis, evaluation for intervention, and the role of a multidisciplinary group in educating, preparing, and caring for these families before birth.     

Blood coagulation parameters in prostaglandin-induced labour after intrauterine fetal death (author's transl)

Pregnancy termination by the intraamniotic injection of hypertonic saline may result in coagulation defects. This complication seems to be uncommon with prostaglandins. The present study was designed to elucidate any possible effects of prostaglandin administration on coagulation parameters in patients with fetal death in utero. Labour was induced in 20 cases of intrauterine fetal death by either intravenous (11) or intramuscular (9) administration of Sulprostone. Normotest, thrombin clotting time, ethanol fractionation, fibrinogen level and platelet count were obtained in each patient prior to and immediately after drug administration. Although retention of the fetus for as long as 84 days was recorded (mean 14 days), no patient presented with abnormal clotting parameters. Prostaglandin induction was successful in all 20 cases. After explosion of the fetus, coagulation parameters were not significantly different from pretreatment values. Estimated blood loss never exceeded 500 cc. It is concluded that intramuscular or intravenous administration of Sulprostone for induction of labour in fetal death in utero does not affect the clotting system nor trigger off disseminated intravascular coagulation.     

Monitoring the Fetal Environment

In addition to various biochemical tests, outlined in part 1 of this paper, endocrine studies and biophysical measurements give important information about the status of the fetus in utero. An ultrasonic technic makes possible an accurate assessment of fetal size, and this measurement can be correlated with the biochemical and endocrine values.     

Fetal stomach paracentesis in combined duodenal and esophageal atresia

Fetuses with concomitant duodenal atresia (DA) and esophageal atresia (EA) might develop in utero gastric rupture as well as neonatal respiratory complication due to dilated stomach and duodenum. Our patient with the typical “double bubble” appearance was highly suspected to have DA in the second trimester. Follow-up examinations revealed a massively dilated stomach and duodenum with a dilated distal esophagus, indicating concomitant DA and EA. With advancing pregnancy, the fetal abdomen progressively increased in size by retention of fluid in the closed loop of DA and EA. To avoid gastric perforation, prenatal stomach paracentesis using an ultrasound-guided needle was performed three times until delivery. A male neonate born at 37 weeks gestation showed no respiratory complication. Perinatal clinical features and operative findings revealed combined DA and EA (gross type A). He was successfully managed with duodenoduodenostomy, followed by esophago-esophagostomy. On fetal sonography, the marked “double bubble” appearance and the cystic structure presenting peristalsis-like movement above the diaphragm were indicative of concomitant DA and EA. Fetal stomach paracentesis could contribute to the improvement of perinatal outcomes in fetuses with this pathological condition.     

Delivering the Dead Fetus

At the University of Iowa Hospitals, physicians have studied the delivery of dead fetuses from 360 patients. Labor was spontaneous in 58.9 percent but induced in 36.4 percent. Eleven patients who had retained a dead fetus from 4 to 10 weeks evidenced hypofibrinogenemia. Aggressive management for fetal death in utero is recommended.