Prenatal diagnosis of fetal thrombocytopenia]

A case of maternal idiopathic thrombocytopenic purpura complicated by severe fetal thrombocytopenia is reported. Fetal thrombocytopenia was diagnosed by scalp blood-sampling during labour. With discussion of the relevant literature, the authors recommend the use of their method in thrombocytopenic patients in labour. In cases of fetal thrombocytopenia Caesarean section in recommended to prevent trauma and subsequent neonatal haemorrhagic complications.     

Prenatal diagnosis of fetal herpes simplex infection

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors describe an association with malignancy. We report three cases of Rothmund-Thomson syndrome associated with osteosarcoma. After cutaneous epithelioma, osteosarcoma is the most frequent malignancy. Thus, patients with RTS need a careful survey. The treatment did not differ from sporadic osteosarcoma. Chemosensitivity and toxicity are also not different.     

Prenatal diagnosis of a fetal mediastinal teratoma

BACKGROUND: Adequate excision of invasive penile carcinoma often results in a penile stump of inadequate length to control the urinary stream. A simple technique to lengthen the stump and avoid urethrostomy is described here. METHODS: Additional corporal length is gained by dividing the dorsal suspensory ligaments through a transverse lower abdominal skin incision. Skin length is gained by vertical closure of this incision. RESULTS: This technique has been successful in two cases where the stump length after partial penectomy was borderline. Each patient has a functional stump with satisfactory cosmesis. CONCLUSIONS: In selected cases this technique may avert the need for perineal urethrostomy after adequate excision of a penile cancer.     

Prenatal diagnosis of a fetal intracranial tumor

Cap polyposis is a rare intestinal disease that can be difficult to differentiate from inflammatory bowel disease. When cap polyposis is suspected, it is important to confirm protein loss. A 54-year-old woman who had been treated for ulcerative colitis for 7 years had severe hypoproteinemia. Scintigraphy with Tc-99m-labeled DTPA complexed with human serum albumin showed protein loss from the descending colon. Left hemicolectomy and sigmoid colectomy were performed. Cap polyposis was diagnosed on the basis of histologic findings from an operative specimen. The patient's diarrhea resolved after surgery and her hypoproteinemia improved. Scintigraphy with this label gave information helpful in the diagnosis of cap polyposis.     

Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly

Two cases of prenatal diagnosis of lissencephaly are presented in the context of a series of 118 cases of prenatally diagnosed hydrocephalus. Within this series there was one case of Walker-Warburg syndrome and another of Miller-Dieker syndrome. It is stressed that the cases reported here of ventriculomegaly diagnosed in utero show a very different outcome from those in published studies of fetal hydrocephalus which only deal with patients in whom the diagnosis was determined after birth. In those postnatal series there is a considerable selection bias, and the fate of the fetuses reported here was much worse than in postnatal series. Of the 118 fetuses 6 had fetal infections, 6 had chromosomal abnormalities, 26 had associated spina bifida, 64 fetuses had associated other anomalies, and only 28 had isolated hydrocephalus. Although it is difficult to determine the prognosis individually after prenatal diagnosis of ventriculomegaly, the data presented here may be helpful in counseling parents prenatally. The counseling should be performed with the collaboration of obstetricians, pediatricians, surgeons, and geneticists.     

Prenatal diagnosis and perinatal management of fetal sacrococcygeal teratoma

OBJECTIVE: To perform an exploratory analysis of the relative contribution of single MHC genes to the pathogenesis of systemic lupus erythematosus (SLE) in a homogenous white population. METHODS: MHC class II alleles and C4 allotypes were determined in 64 SLE patients and in ethnically matched controls. HLA-DR and DQ typing was performed by polymerase chain reaction amplification with sequence specific primers. C4 allotypes were determined by agarose gel electrophoresis. RESULTS: The frequency of C4A*Q0 was significantly higher in patients than in controls (46.9% v 25.3%, p = 0.002). HLA-DRB1, DQA1, and DQB1 alleles in the whole group of SLE patients were not significantly different from those of controls. On the other hand increase in DRB1*03 was observed in the group of patients with C4A*Q0, as compared with patients with other C4A allotypes (p = 0.047). There was no significant correlation between severe and mild disease, as judged by the SLEDAI, and HLADR, DQ alleles and comparing the patients with C4A*Q0 with those with other C4A allotypes there was no significant difference regarding clinical manifestations. CONCLUSION: The results are consistent with the argument that C4A deficiency contributes independently to susceptibility and the pathogenesis of SLE. C4A*Q0 in SLE patients in Iceland shows weaker linkage disequilibrium with DR3 genes than reported in most other white populations and emphasises the role of ethnicity.     

Prenatal diagnosis of a large fetal arachnoid cyst

A case of prenatal diagnosis and management of a giant fetal arachnoid cyst is presented. The importance of an accurate diagnosis is highlighted and the use of three-dimensional ultrasound is discussed. The recent literature is reviewed.     

Prenatal diagnosis of congenital heart disease

Owing to the widely different levels of experience of examiners, there is a large discrepancy in study results of second trimester ultrasound screening for fetal malformations, which is a result of varying levels of obstetric scanning expertise prevalent at the reporting centre. This holds particularly true for the prenatal diagnosis of congenital heart disease where detection rates ranging from 0 per cent to 60 per cent are being reported. On the other hand, congenital heart disease affects about 4-8 per 1000 live births and is a leading cause of infant mortality, whereas prenatal diagnosis could possibly prevent death and long-term morbidity in some of these neonates. Various screening concepts for more effective detection of congenital heart diseases are analysed in this article, including the more recent technique of early echocardiography between 13 and 15 weeks of gestation. High-risk groups are defined and the group of fetuses with increased thickness of nuchal translucency seems to be of particular interest.     

Prenatal diagnosis of fetal nuchal cystic hygroma in 22 cases

OBJECTIVE: To investigate the early diagnosis and prognosis of fetal nuchal cystic hygroma. METHODS: 72 cases of fetal nuchal cystic hygroma diagnosed in uterus were analyzed retrospectively. RESULTS: Most of the cases were diagnosed by B ultrasound between 15-26 gestational weeks. 55.9% the multipara had abnormal pregnant history, and 40% (4/10) of fetuses with karyotype performed had chrosome abnormality. Except for fetal deaths and induced abortions, 3 cases had term deliveries: one neonatal death, one was born with hygroma of 5.9 cm x 3.7 cm and transferred for surgery, and the other one with hygroma disappeared at the 37th week and baby was born at 40 week with normal appearance. CONCLUSIONS: This disease is one of common fetal morphological abnormalities. Few may recover spontaneously but most have poor outcomes.     

Prenatal diagnosis by analysis of fetal cells in maternal blood

Twenty-five fresh-frozen cadaveric specimens were used to evaluate the role of the syndesmotic ligaments when the ankle is loaded with external rotation torque. An apparatus was constructed that allowed pure external-rotation torque to be applied through the ankle with the foot in neutral flexion. The apparatus provided solid fixation of the tibia while allowing free movement of the fibula in all planes. The syndesmotic ligaments were incrementally sectioned, and direct measurements of anatomical diastasis were made. Mortise and lateral radiographs were made at each increment under both loaded (5.0 newton-meters) and unloaded conditions. After all structures of the syndesmosis had been divided, the syndesmosis was reduced and was repaired with one or two screws. The strength of the repair was measured with incremental increases in torque of 1.0 newton-meter. The radiographs were measured by three independent observers in a blind fashion. In order to evaluate intraobserver error, each observer was randomly given forty radiographs to reinterpret. Diastasis and rotation were found to be related to the amount of injury of the ligament (p < 0.0001). After the entire syndesmosis had been divided, application of a 5.0-newton-meter torque resulted in a mean diastasis of 7.3 millimeters. The subsequent repair of the anterior tibiofibular ligament with suture failed at a mean of 2.0 newton-meters (range, 1.0 to 6.0 newton-meters) of torque. Repair with two screws was found to be stronger than repair with one, with the first construct failing at a mean of 11.0 newton-meters (range, 5.0 to 15.0 newton-meters) and the second, at a mean of 6.2 newton-meters (range, 2.0 to 10.0 newton-meters) (p = 0.0005). Failure of the screw fixation was not associated with the maximum previous diastasis (p = 0.13). Measurements of anatomical diastasis were compared with measurements made on the mortise and lateral radiographs. Measurements on the stress mortise radiographs had a weak correlation with diastasis (r = 0.41, p < 0.0001). However, measurements on the stress lateral radiographs had a higher correlation (r = 0.81, p < 0.0001). Additionally, interobserver correlation was significantly higher for the measurements on the lateral radiographs (r = 0.87, p < 0.0001) than for those on the mortise radiographs (r = 0.56, p < 0.0001). Intraobserver correlation for the three observers was poor with regard to the measurements on the mortise radiographs (r = 0.12, 0.42, and 0.25). The respective correlations for the measurements on the lateral radiographs were r = 0.81, 0.90, and 0.89.(ABSTRACT TRUNCATED AT 400 WORDS)     

Prenatal diagnosis of fetal malformations by ultrafast magnetic resonance imaging

Prenatal ultrasonography is the primary imaging modality in pregnancy as it allows direct real-time fetal examination. Antenatal magnetic resonance imaging (MRI) has so far been of limited clinical value owing to poor image quality. This was due to the long acquisition times that were needed to achieve a high enough spatial resolution for assessment of the small fetal anatomic structures resulting in severe motion artefacts. This problem has now been overcome by recent technical improvements. We present a case of fetal malformation (MURCS association), where an ultrafast T2-weighted RARE sequence (single shot fast spin echo sequence) provided images of excellent quality, which led to the correct antenatal diagnosis. MRI using this sequence can now be used for prenatal diagnosis and is thus likely to become an important adjunct to ultrasonography, especially in cases in which ultrasound findings are unclear of sonographic images are impaired by maternal obesity or oligohydramnios.     

Prenatal diagnosis of periventricular hemorrhage by fetal brain magnetic resonance imaging

The neonate is unable to relate specific complaints of pain and may not exhibit the usual signs of illness or infection. Septic arthritis of the hip is a surgical emergency in the neonate, and it should be considered in any irritable or ill child who has a high index of suspicion. Prompt diagnosis and immediate treatment are necessary. Nearly all babies undergo routine examination of the hip for dysplasia. It is recognized that limitation of abduction of the hip in the neonate may not represent developmental dysplasia of the hip but may represent other etiologies, such as fracture, infection, congenital anomaly, or tumor. The following case report illustrates the importance of careful clinical evaluation of an apparent asymptomatic neonate.     

Prenatal diagnosis of a fetal head and neck neoplasm: differential diagnosis, management, and histology

A fetal head and neck malignancy was prenatally diagnosed. The parents allowed the fetus to die during labour, due to the poor prognosis. We discuss the corresponding pathology findings, differential diagnosis, and management of this rare entity. Prenatal diagnosis of fetal neoplasms theoretically improves outcome, although this was not true in our case.     

Prenatal diagnosis of triploidy and trisomy 21 through fetal erythroblasts isolated from maternal blood

BACKGROUND: A long-sought goal of medical genetics has been the development of prenatal diagnostic procedures that do not endanger the conceptus. The safety of noninvasive methods for prenatal diagnosis would be especially attractive because they could be extended to all pregnant women, regardless of their ages or histories. Noninvasive prenatal diagnosis for the entire population might be possible recovering fetal cells from maternal blood. For this purpose, we have studied fetal erythroblasts. MATERIALS AND METHODS: To evaluate the potential of the method for clinical use, we studied maternal blood samples from 11 women referred to us for prenatal diagnosis between 15 and 20 weeks of gestation. For simple and effective enrichment of fetal nucleated erythrocytes from peripheral maternal blood, we combined a triple density gradient and magnetic-activated cell sorting (MACS) of anti-CD71 transferrin receptor antibody labeled cells. The isolated cells were analysed by using dual-colour interphase fluorescent in situ hybridization (FISH) with X-, Y-, 18- and 21-specific DNA probes. RESULTS: Chromosomal abnormalities detected on enriched fetal cells include trisomy 21 and triploidy. CONCLUSIONS: Based on the current results it is suggested that the technique described here is a simple, fast, efficient and reliable method for non invasive prenatal diagnosis.     

Parkinson''s disease: diagnosis, pathology, and treatment

Limiting dilution analysis technique was used to enumerate the circulating precursor frequency of donor and third-party-reactive helper T lymphocytes (HTLpf) in 28 renal allograft recipients before (pre-tx) and at three intervals (T1: 60-90 days, T2: 120-180 days, T3: 360-1620 days) after transplantation (post-tx). Two patterns of responses were identified, in group 1 (n = 12), a five to 31-fold reduction of donor-reactive HTLpf (ranging from 1/19231-1/62500) occurred within 90-1620 days post-tx, while in group 2(n = 16), no significant changes of donor-reactive HTLpf were seen. In both groups, the third-party-reactive HTLpf in most of these patients remained largely unchanged throughout the study period. The number of HLA-DR mismatches, total number of rejection episodes, serum creatinine levels, and biopsy findings at T3 were compared in both groups using Fisher's exact probability, and the Mann-Whitney test. We found that 11 patients (92%) in group 1 were HLA-DR compatible with donors, while nine (56%) patients in group 2 were HLA-DR compatible with donors, p = 0.04. In group 1 eight rejection episodes occurred in five (41.6%) patients during the study period, compared to 33 in 13 (81%) patients in group 2, p = 0.03. Group 1 had a significantly lower serum creatinine level (at T3); median: 136 vs 165 mumol/l for group 2, p = 0.03. Biopsy indicated no rejection (at T3) in eight (66%) patients in group 1 as compared to three (18%) patients in group 2, p = 0.03. Taken together, these results indicate that the frequency of circulating HTLpf correlate with the clinical status of the graft. Therefore monitoring of HTLpf in the peripheral blood could be useful in predicting graft outcome and selecting patients for reducing immunosuppression.     

Prenatal diagnosis

The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality. Although this undoubtedly will be true for ultrasonography, the increased speed of magnetic resonance equipment may offer a new realm of imaging possibilities. Computerized image processing, analysis, and three-dimensional reconstructions all should make interpretation of fetal images easier and more understandable to the nonspecialist. Advances in molecular genetics will continue to accelerate, greatly expanding the range and accuracy of prenatal diagnosis. The alert pediatrician who is sensitive to genetic issues may, by early detection of pediatric disorders and careful family history assessment, be in a position to identify families at risk for serious genetic conditions and provide the opportunity to make informed decisions on reproductive options that avert a major tragedy. The pediatrician, working with obstetric colleagues, should be part of a team effort to support families going through prenatal testing. Familiarity with these rapidly changing technologies will make it far easier to support the family needing additional explanation about prenatal diagnosis issues.