Prenatal diagnosis of a craniopharyngioma using ultrasonography and magnetic resonance imaging

We report an infant with a craniopharyngioma which was detected in utero. Maternal uterine ultrasonography, done at 27 weeks because of polyhydramnios, revealed a 4 cm midline mass near the base of the fetal skull. At 31 weeks, magnetic resonance imaging of the maternal abdomen confirmed the presence of a mass in the region of the third ventricle and revealed hydrocephalus. Two days post-partum a computed tomography (CT)-guided needle biopsy of the mass was performed and recovered tissue which was histologically consistent with a craniopharyngioma. The infant' s postnatal period was complicated by seizures, which were treated with phenobarbital, and by progressive hydrocephalus, necessitating placement of a ventriculo-peritoneal shunt. He also received therapy for central hypothyroidism and diabetes insipidus. The infant' s parents refused permission for attempted resection of the tumour and he died at 8 weeks of age. This represents the second reported case of an antenatally detected craniopharyngioma. Four other cases of different intracranial tumours have been detected in utero using ultrasound, with no reported survivors past 3 days of age. There is a uniformly poor prognosis of such infants, but earlier diagnosis and intervention may change this result.     

Fetal echocardiography using transvaginal and transabdominal probes during the first period of pregnancy: A comparative study

The authors compare the diagnostic possibilities of fetal transabdominal echocardiography versus transvaginal echocardiography. A larger diagnostic capacity is verified in different gestation ages with transvaginal probe between the 11th and 14th week of gestation. The results are emphasized by colour Doppler.     

The role of percutaneous umbilical blood sampling in the management of immune thrombocytopenic purpura

On consultation, percutaneous umbilical blood sampling (PUBS) was offered to women with immune thrombocytopenic purpura (ITP) to determine the mode and site of delivery prior to labour. Between January 1989 and December 1993, 41 pregnant women underwent PUBS. All women had a history of ITP, a platelet count less than 90 K, (+) antiplatelet antibody, and/or thrombocytopenia diagnosed early in pregnancy. PUBS was performed at term except in one patient with preterm labour, who underwent PUBS at 31 weeks' gestation. Patients with fetal platelet counts greater than 50 K returned to their referring physician for delivery. Records were complete in 39 pregnancies. Fetal blood was successfully obtained in 37 of 39 cases (95 per cent). Fetal platelet counts correlated with neonatal platelet counts in 36 of 37 cases (97 per cent). The interval between PUBS and delivery ranged from 0 to 31 days. Six of 37 fetuses (16 per cent) had significant fetal thrombocytopenia (<50 K). These six patients underwent Caesarean section. Vaginal delivery was recommended in all others. There were two procedure-related complications. There were no cases of intraventricular haemorrhage in any of the neonates. In conclusion, there is a high incidence of fetal thrombocytopenia in women with ITP. PUBS reliably detects fetal thrombocytopenia and is therefore useful in the perinatal planning of the mode and site of delivery.     

Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi

Chorionic villus biopsy specimens were studied electron microscopically in six pregnancies at risk of the infantile type of neuronal ceroid lipofuscinosis (INCL). The biopsy was performed in all cases in the first trimester of pregnancy (8–10 gestation weeks) by the transcervical route. In one case, the biopsy was repeated at 17 weeks by the transabdominal procedure. In two pregnancies, the endothelial cells and, to a lesser extent, the mesenchymal cells of the chorionic villi contained unit membrane-bound inclusions typical of INCL. In both cases, the pregnancy was terminated and in one of them identical inclusions were found in the brains and kidneys of the fetus at 20 weeks of gestational age. The children from the remaining four pregnancies are healthy and have shown no signs of the disease.     

Identification of abnormal chromosomal complement in formalin-fixed,paraffin-embedded placental tissue

The objective of this project was to assess the efficacy of fluorescence in situ hybridization (FISH) with chromosome-specific DNA probes to identify chromosome number in formalin-fixed, paraffin-embedded placental specimens. Using this approach, 75 per cent of the karyotypes in 20 formalin-fixed placental samples (comprising aneuploids, triploids, and normals) were correctly identified. As this technology improves, the ability to obtain information regarding chromosomal abnormalities in formalin-fixed, paraffin-embedded placental tissue should improve as well. This technology can potentially provide important cytogenetic information even when fresh tissue is not available for standard karyotypic analysis.     

Significance of septations in isolated fetal cystic hygroma detected in the first trimester

Recent reports have indicated an increased risk for fetal chromosome abnormalities, especially autosomal trisomy, in fetuses with isolated cystic hygroma, or prominent nuchal membranes, detected by ultrasonography during the first trimester. However, these reports present contradictory information regarding the prognostic significance of septations within the cystic hygroma. We evaluated, in blind fashion, 55 consecutive cases of isolatd fetal cystic hygroma detected at or before 13·9 weeks' gestation to determine the association between septations and fetal chromosome complement. Septations were associated (P<0·05) with an increased risk for fetal chromosome abnormalities. However, the incidence of chromosome abnormalities was also increased (12·5 per cent) among cases not characterized by septations. Thus, we believe it prudent to offer invasive prenatal testing to all women found to be carrying fetuses with cystic hygroma, irrespective of the presence or absence of septations.     

Rapid karyotyping in ectopic pregnancies

The aim of this study was to determine the feasibility of karyotyping ectopic Fallopian tube pregnancies utilizing dividing cytotrophoblast cells. Villi from 78 ectopic conceptuses were processed by the direct chromosome technique and cytogenetic diagnosis was successful in 60 cases (76-9 per cent). The amount of villi obtained, as well as villus morphology, was correlated with cytogenetic success rate. Histological examination of the Fallopian tube was also carried out. A total of 47 cases were chromosomally abnormal (78-3 per cent), which is the highest frequency of cytogenetic abnormalities reported to date.     

Myasthenia gravis with polyhydramnios in the fetus of an asymptomatic mother

Transient myasthenia gravis was observed in an infant whose mother had no signs of neuro-muscular disease. The case presented with severe polyhydramnios at 31 weeks. Sonographic and invasive work-up showed only an absence of fetal swallowing. At birth, the infant had severe muscle weakness and respiratory distress. He had high titres of anti-acetylcholine receptor (anti-AChR) antibodies of maternal origin. Anti-AChR antibodies were also found in stored samples of fetal serum and amniotic fluid. To our knowledge, this is the first case of neonatal myasthenia gravis for which neither past nor present evidence of disease could be obtained in the mother. Anti-AChR antibody testing should be considered in cases of unexplained polyhydramnios.     

Filtration and recirculation of early amniotic fluid. Evaluation of cell cultures from 100 diagnostic cases

Due to the low cell concentration, cultures from early amniotic fluid specimens usually require 2–3 weeks in culture prior to karyotyping. The purpose of this study was to evaluate the culture quality of amniotic fluid cells from early pregnancy, obtained by a new filter technique. The hypothetical advantage of the technique was that the increased cell yield might reduce the culture time before karyotyping. Culture quality was assessed by the number of colonies, the percentage of colonies containing mitoses in filter and control cultures, and the culture time. The setting was a consecutive clinical trial. One hundred samples were obtained from ongoing pregnancies at 11–14 weeks of gestation (mean 12·8 weeks). By circulating a mean of 26 ml of amniotic fluid through a cell filter system leading the cell-free fluid back to the amniotic cavity, the cell yield was increased in the sample of 7 ml corresponding to the dead space of the filter system. The culture results were compared with control cultures from 5 ml samples drawn from the same pregnancies prior to recirculation. The cultures from the first flushing of the filter system yielded 2·6 times more colonies and in total 4·2 times more colonies were found in the three cultures grown from each filter sample when compared with the control cultures. Moreover, the filter cultures showed significantly more colonies with mitoses. The mean culture time was 8·0 days for the filter cultures, from which the karyotypes were analysed. The controls would have needed more time in culture to fulfil the diagnostic criteria for karyotyping. One case of 47,XY, + 21 was found; the rest had normal karyotypes. We conclude that the filter technique improves the culture quality of early amniotic fluid samples and allows early arrest of the cultures.     

Anxiety in women with low maternal serum alpha-fetoprotein screening results

The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocentesis because of advanced maternal age. The results indicate a higher level of anxiety in women with low alpha-fetoprotein (AFP) levels.