bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antenatal detection of neural tube defects: Comparison of biochemical and immunofluorescence methods
Authors: Bell J. E. , Barron L. , Raab G. 
Published: March 2007

AbstractThe aim of this study was to determine whether identification of glial cells in amniotic fluid samples could form a useful supplementary test in the antenatal diagnosis of neural tube defects (NTDs). In a 5‐year study, 1452 samples of middle trimester amniotic fluid were examined blind to the results of other antenatal diagnostic tests and to the outcome of pregnancy. Reasons for amniocentesis included raised serum alpha‐fetoprotein (329), previous NTD (73), and a family history of NTDs (71). Duplicate cytospin preparations were stained with Giemsa and an antibody to glial fibrillary acidic protein (GFAP), and on this basis a prediction of fetal NTD status was made which was not communicated to clinicians. Subsequent management of pregnancies was influenced only by the results of routine antenatal testing for NTDs. Twenty cases of NTDs occurred among the 1406 cases in which the outcome was subsequently known. Of these 20 cases, only five (four anencephalic, one spina bifida) were correctly predicted by immunofluorescent identification of GFAP‐positive cells in the amniotic fluid. The remaining 15 cases (two anencephalic, 13 spina bifida) were not so identified. In a further 18 cases, apparently GFAP‐positive cells were identified in the absence of NTDs. We conclude that GFAP immunofluorescence examination of routine amniocentesis samples of amniotic fluid is not a useful predictive test for NTDs.
Cardiac blood flow studies in fetuses with haemoglobin bart's disease
Authors: Ghosh A. , Tang M. , Leung M. P. , Fung L. M. , Ma H. K. 
Published: March 2007

AbstractBlood flow across the atrioventricular valves and outflow tracts was measured in 55 normal fetuses and 32 fetuses with haemoglobin (Hb) Bart's disease between 18 and 26 weeks of gestation. The mean velocities remained unchanged in both normal and affected fetuses over the gestations studied. The volume flow across both atrioventricular valves and outflow tracts increased as the gestation advanced in both normal and affected fetuses, but was significantly higher in affected than in normal fetuses. The same magnitude of increased flow was found in both hydropic and non‐hydropic fetuses with Hb Bart's disease. These findings suggest that fetuses with severe and long‐standing anaemia have a remarkable cardiac compensatory mechanism for the maintenance of tissue oxygenation. In response to anaemia and circulatory loading, the cardiac chambers and outflow tracts enlarge proportionately up to twice the normal values. Because of this response and the operation of the Frank‐Starling mechanism, the heart is able to maintain a normal mean velocity of propulsion and the net output is increased to two to three times that in normal fetuses. Hydropic changes in these anaemic fetuses appear unrelated to cardiac failure as cardiac failure is not observed at the time that hydropic changes develop.
Prenatal sonographic detection of intra‐abdominal extralobar pulmonary sequestration: Report of three cases and literature review
Authors: White James , Chan Yuen‐Fu , Neuberger Sally , Wilson Toni 
Published: March 2007

AbstractThree cases of intra‐abdominal extralobar pulmonary sequestration detected antenatally by ultrasound are reported. One case was associated with a large left diaphragmatic hernia. Sonographically, all the cases were found in the left supra‐renal region presenting as a well‐defined echogenic mass with cystic hypoechoic areas. The condition should be considered in the differential diagnosis of all antenatally detected upper abdominal echogenic masses, particularly when associated with a diaphragmatic hernia. Postnatal ultrasound‐guided fine needle aspiration biopsy in one case yielded respiratory type epithelium and this procedure could provide a reasonably confident diagnosis of the lesion.
Cystic Adenomatoid malformation of the lung: Prenatal diagnosis and outcome
Authors: Thorpe‐Beeston J. G. , Nicolaides K. H. 
Published: March 2007

AbstractDuring an 8‐year period (1984–1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17–39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different types of CAM, associated malformations, and outcome. The lesions were macrocystic in 78 (59 per cent) and microcystic in 54 (41 per cent) of the cases. CAM was left‐sided in 51 per cent, right‐sided in 35 per cent, and bilateral in 14 per cent of the fetuses. In 15 (11 per cent) of the fetuses there were additional malformations and 57 (43 per cent) were hydropic. The pregnancy was electively terminated in 44 (33 per cent) of the cases, including all those with bilateral CAM. There were six (5 per cent) intrauterine deaths, five in association with hydrops, and one with growth retardation and heart defect. Of the 82 (62 per cent) infants that were liveborn, 21 (26 per cent) died in the neonatal period, 15 before and six after surgery. Of the 61 survivors, 16 (26 per cent) did not require surgery. In the 88 cases where the pregnancy was not terminated, survival was better if the CAM was macrocystic (74 per cent versus 58 per cent for microcystic), if there was no hydrops (92 per cent versus 21 per cent for hydrops), and if the amniotic fluid volume was normal or decreased (82 per cent versus 53 per cent for polyhydramnios).
Four‐marker serum screening for Down's syndrome
Authors: Wald N. J. , Densem J. W. , Smith D. , Klee G. G. 
Published: March 2007

AbstractThe value of measuring the separate sub‐units of human chorionic gonadotrophin (free α‐hCG and free β‐hCG) instead of total hCG together with alpha‐fetoprotein (AFP) and unconjugated oestriol (uE3) was examined to determine the effect on the performance of serum screening for Down's syndrome between 15 and 22 weeks of pregnancy. The study was based on stored serum samples relating to 75 singleton pregnancies with fetal Down's syndrome and 367 unaffected singleton pregnancies, matched for maternal age, gestational age, and duration of storage of the serum sample, supplemented by data from 970 white women with unaffected pregnancies. Using the four serum markers AFP, uE3, free β‐hCG, and free α‐hCG, in addition to maternal age, 65 per cent of Down's syndrome pregnancies were detected for a 5 per cent false‐positive rate compared with 59 per cent with the conventional triple test (AFP, uE3, total hCG with maternal age). If gestation was based on an ultrasound scan examination, the detection rate was 72 per cent using the four serum markers compared with 67 per cent with the triple test. As an alternative illustration, if the detection rate was kept at 60 per cent and gestation was estimated by an ultrasound scan examination the four‐marker test reduced the false‐positive rate by one‐third from 3 per cent using the triple test to 2 per cent with the four‐marker test. Screening performance was hardly affected by adjusting marker levels for maternal weight. The four‐marker test is, both from a medical and from a financial perspective, the most effective method of prenatal screening for Down's syndrome suitable for routine use.
Maternal serum free α‐human chorionic gonadotrophin levels in twin pregnancies: Implications for screening for Down's syndrome
Authors: Wald N. J. , Densem J. W. 
Published: March 2007

AbstractMaternal serum free α‐human chorionic gonadotrophin (free α‐hCG) levels were determined in twin and singleton pregnancies at 15–22 weeks of gestation using a set of stored serum samples relating to 200 twin pregnancies and 600 singleton control pregnancies matched for gestational age and duration of storage. Free α‐hCG values are, on average, 1·66 times greater in twin pregnancies than in singleton pregnancies (95 per cent confidence interval 1·56–1·76). If maternal serum free α‐hCG is used in screening for Down's syndrome, values in twin pregnancies can be adjusted using this result so that screening can be performed in twin pregnancies as well as in singleton pregnancies.
Late‐onset isolated cystic hygroma: The obstetrical significance, management, and outcome
Authors: Goldstein Israel , Jakobi Peter , Shoshany Gideon , Filmer Shlomo , Itskoviz Ioseph , Maor Bar 
Published: March 2007

AbstractWe add two cases of prenatally diagnosed late‐onset isolated cystic hygroma to the eight cases reported previously in the English literature. The obstetrical significance, management, and outcome of this entity are reviewed. A retrospective study of late‐onset isolated cystic hygromas delivered in one medical centre between 1978 and 1992 was made. The medical records of these newborns served as the basis of the present report. A Medline search of the English literature was carried out. Over a period of 15 years, we observed 11 cases of late‐onset congenital isolated cystic hygroma, two of whom had prenatal sonographic diagnosis. In one case, a Caesarean section was performed due to a huge lesion. All cases underwent surgical excision with a favourable outcome. Of the eight prenatally diagnosed cases reported previously, one died at birth due to inability to ventilate and two required a tracheostomy. Late‐onset isolated cystic hygroma should be differentiated from the early‐onset nuchal cystic hygroma. The differential diagnosis is important, as late‐onset isolated cystic hygroma does not require any prenatal intervention, but special awareness during labour and Caesarean section in extreme cases. Transport to a perinatal centre with expert neonatal, respiratory, and paediatric surgical care is recommended. The prognosis in general is favourable.
Prenatal sonographic appearance of foramina parietalia permagna
Authors: Salamanca Alberto , Gonzalez‐Gomez Francisco , Padilla Ma Carmen , Motos Miguel A. , Zorrilla Francisco , Sabatel Rosa Ma 
Published: March 2007

AbstractForamina parietalia permagna (FPP) is an extremely uncommon congenital defect, inherited as an autosomal dominant condition. Its characteristics are two symmetrical orifices in the parietal bones (not of fixed size) on both sides of the midline. This defect does not affect either the psychic or the physical development of the affected person. This paper describes the sonographic appearance of FPP in utero as an enlargement of the posterior fontanelle.
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida
Authors: Sastrowijoto Suprapto H. , Vandenberghe Kamiel , Moerman Philippe , Lauweryns Joseph M. , Fryns Jean‐Pierre 
Published: March 2007

AbstractRhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive. Prenatal ultrasound diagnosis has been reported during the second trimester of pregnancy. Prenatal diagnosis is also possible from the first trimester onwards by demonstration of peroxisomal dysfunction in cultured chorionic villous or amniotic fluid cells. In all cases reported hitherto, the prenatal diagnosis was established after the birth of a previous affected child. In contrast to these studies in pregnant multiparous women at risk for RCDP, we report on the first case of prenatal ultrasound diagnosis of RCDP at 19 weeks' gestation in a primigravida. In addition, a complex cardiac malformation associated with hypoplasia of the thymus (DiGeorge anomaly) is described.
Tetrasomy 12p (Pallister‐Killian syndrome): Ultrasound indicators and confirmation by interphase fish
Authors: Wilson R. D. , Harrison K. , Clarke L. A. , Yong S. L. 
Published: March 2007

AbstractTetrasomy 12p (Pallister‐Killian syndrome) is a mosaic aneuploidy syndrome in which the isochromosome is present in amniocytes with a much greater percentage than fetal lymphocytes. Two new cases identified by prenatal diagnosis are reported. Indications for prenatal diagnosis were advanced maternal age and fetal anomalies. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. Recognition of congenital malformation patterns prenatally may allow appropriate selection of tissue for chromosome analysis. Molecular cytogenetic analysis using fluorescence in situ hybridization was used retrospectively to confirm the presence of the isochromosome 12p in various formalin‐fixed fetal tissues. The levels of mosaicism detected in fetal and placental tissues were lower than those detected prenatally.
The association between alpha‐fetoprotein and βhcg levels prior to and following chorionic villus sampling in cases that spontaneously miscarried
Authors: Barkai G. , Reichman B. , Ries L. , Lusky A. , Lipitz S. , Goldman B. 
Published: March 2007

AbstractMaternal serum alpha‐fetoprotein (AFP) and beta‐human chorionic gonadotropin (βhCG) measurements taken prior to chorionic villus sampling (CVS) in 21 patients who subsequently miscarried were compared with measurements in a control group of 113 patients with uneventful pregnancies. Patients with AFP levels of 10 iu/ml or more prior to the CVS had a 4·3 times greater risk of miscarriage (95 per cent confidence interval 1·3–13·6). AFP levels obtained 1 week after the CVS in the 13 patients with late miscarriages were higher than in the control group (P = 0·06). Patients miscarrying had a greater rise in AFP (P = 0·06) and a greater fall in βhCG levels (P = 0·04) following the CVS procedure, compared with the control subjects. Each 10‐unit change in the difference between AFP or βhCG levels prior to and 1 week following the CVS was associated with a significantly increased risk for late miscarriage. Elevated maternal serum AFP levels early in pregnancy and changes in AFP and βhCG levels following CVS may predict an increased risk for subsequent miscarriage.
Feto‐amniotic shunting—report of the experience of four european centres
Authors: Bernaschek Gerhard , Deutinger Josef , Hansmann Manfred , Bald Rainer , Holzgreve Wolfgang , Bollmann Rainer 
Published: March 2007

AbstractFew reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German‐speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were inserted in 34 fetuses. The indications were uni‐ or bilateral hydrothorax in nine cases, cystic adenomatoid malformation of the lung in four cases, infravesical stenosis in 13 cases, and fetal ascites in eight cases. In three cases (6 per cent), difficulties occurred when the drain was inserted. In 15 cases (29 per cent), the function of the drain was reduced by dislocation or occlusion. The mortality rate caused by shunting was as high as eight per cent (four cases). The application of an intrauterine shunt currently represents a rarely performed ultrasound‐guided therapeutic intervention in the fetus. In all cases, the indication for shunting is to avoid compression of normal tissue by cystic structures. A high complication rate restricts the application of drainage to selected cases.
Fetal renal vein thrombosis, hydrops fetalis, and maternal lupus anticoagulant. A case report
Authors: Hage Marvin L. , Liu Rebecca , Marcheschi David G. , Bowie James D. , Allen Nancy B. , Macik B. Gail 
Published: March 2007

AbstractHydrops fetalis with fetal renal vein thrombosis in a mother with antiphospholipid antibody syndrome detected post‐partum suggests an underlying pathogenetic association that may provide new strategies for treatment of a lethal disorder.
Prenatal diagnosis of congenital gastric outlet obstruction
Authors: Weissman Ariel , Achiron Reuwen , Kuint Jacob , Lipitz Shlomo , Mashiach Shlomo , Avigad Itamar 
Published: March 2007

AbstractA case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented.
Prenatal diagnosis of congenital human cytomegalovirus infection
Authors: Nicolini Umberto , Kustermann Alessandra , Tassis Beatrice , Fogliani Roberto , Galimberti Andrea , Percivalle Elena , Revello Maria Grazia , Gerna Giuseppe 
Published: March 2007

AbstractFifteen fetuses at risk of congenital human cytomegalovirus (HCMV) infection underwent prenatal diagnosis at 16–30 weeks' gestation by a combination of amniocentesis and fetal blood sampling. HCMV was isolated from the amniotic fluid in six patients, but HCMV‐specific IgM was detected in only three of them. Two of the nine neonates, who were delivered following a negative prenatal diagnosis, had congenital HCMV infection diagnosed by virus isolation in the urine. The interval from infection to prenatal testing was 3 and 4 weeks in the two false‐negative cases and ⩾ 7 weeks in the true‐positive cases. Although timely testing for HCMV infection allows the option of termination of pregnancy, it may be flawed by false‐negative results.
Risk assessment of amniocentesis between 11 and 15 weeks: Comparison to later amniocentesis controls
Authors: Crandall Barbara F. , Kulch Peggy , Tabsh Khalil 
Published: March 2007

AbstractWe studied 693 consecutive early amniocenteses (prior to 15 weeks) and found a spontaneous abortion rate to 28 weeks' gestation of 1·5 per cent. A control group of women having standard amniocentesis (15–20 weeks) experienced a 0·6 per cent fetal loss in the same period. There were no other apparent differences between the two groups. Early amniocentesis results are generally available 4–6 weeks before standard amniocentesis and 1–3 weeks after chorionic villus sampling (CVS). Alpha‐fetoprotein (AFP) can be accurately assayed in 11‐ to 15‐week amniotic fluid samples but additional studies are necessary to determine the accuracy of neural tube defect (NTD) detection. Including the present study, over 5800 early amniocenteses have been reported and the results suggest that this is a relatively safe prenatal diagnostic test and an alternative to CVS and later amniocentesis.
Prenatal diagnosis of xeroderma pigmentosum and cockayne syndrome
Authors: Cleaver James E. , Volpe John P. G. , Charles Wayne C. , Thomas Gregory H. 
Published: March 2007

AbstractIn a study of fetal cells from a series of 12 pregnancies in ten families at risk for the ultraviolet light‐sensitive, DNA repair‐deficient diseases xeroderma pigmentosum (XP) and Cockayne syndrome (CS), we detected one XP and two CS homozygote fetuses. The diagnoses were confirmed by analysis of fetal skin fibroblasts or second amniotic samples after termination of the pregnancies. The measurement of ultraviolet light sensitivity and DNA repair depended on properties common to the seven excision repair‐deficient XP complementation groups (A‐G) and the two CS complementation groups (A, B). No XP variant families were included in the study, because the variant requires different testing techniques. Reliable and rapid diagnosis proved possible in all but one of the 12 pregnancies, supporting the use of these methods until the spectrum of mutations in the various XP and CS genes of the U. S. population is fully characterized and a DNA sequence‐based diagnostic procedure becomes available.
Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns
Authors: Pletcher Beth A. , Sanz Maureen M. , Schlessel Jerrold S. , Kunaporn Suphat , McKenna Carrie , Bialer Martin G. , Alonso M. Lita , Zaslav Ann‐Leslie , Brown W. Ted , Ray James H. 
Published: March 2007

AbstractTwo phenotypically abnormal liveborns in whom trisomy 16 mosaicism was diagnosed prenatally by amniocentesis are described. Analysis of a percutaneous umbilical blood sample in one case revealed a normal chromosomal complement. Ultrasound examinations performed at the time of amniocentesis were normal. Serial sonography during the late second and third trimesters demonstrated progressive intrauterine growth retardation (IUGR) in both fetuses and a cardiac defect in one. At birth, both infants had dysmorphic features and multiple congenital anomalies. Trisomy 16 mosaicism was confirmed postnatally in both infants in skin fibroblasts; however, peripheral blood samples contained only chromosomally normal cells. The two mosaic trisomy 16 cases described in this report, together with the five confirmed cases reported previously, demonstrate the need for caution in the counselling of patients when trisomy 16 mosaicism is diagnosed prenatally in amniotic fluid samples. Such cases potentially can result in the birth of dysmorphic infants with significant birth defects, growth retardation, and possible developmental disabilities.
The causes and natural history of fetal ascites
Authors: Zelop Carolyn , Benacerraf Beryl R. 
Published: March 2007

AbstractThe purpose of this study was to examine the natural history and differential diagnosis of ultrasound‐detected, isolated fetal ascites. Retrospective review of our patient data base, from 1989 to 1993, revealed 18 patients with fetal ascites diagnosed sonographically. Fetuses presenting with generalized hydrops were excluded. One of the 18 fetuses with ascites had a chromosomal abnormality (trisomy 21), four fetuses had intrauterine infections, seven had gastrointestinal processes, two had genitourinary tract abnormalities, and four were labelled as ‘idiopathic’ (all four resulting in normal neonates). Seventeen of 18 fetuses survived; there was one fetal demise secondary to active syphilis. One fetus with parvovirus infection required intrauterine transfusion and did well. Two infants are developmentally retarded, including one with trisomy 21 and one with microcephaly secondary to cytomegalovirus infection. Fourteen of 18 fetuses had documented in‐utero resolution of the ascites. Eleven of the 18 were associated with polyhydramnios sometime during fetal life. None of the fetuses developed hydrops. In conclusion, fetal ascites can result from many different aetiologies, including gastrointestinal and genitourinary anomalies. Chromosomal abnormalities and viral aetiologies must also be considered. Fetuses who have isolated ascites can have a good outcome with resolution of the ascites antenatally.
Amniotic fluid digestive enzymes: Diagnostic value in fetal gastrointestinal obstructions
Authors: Muller Françoise , Dommergues Marc , Ville Yves , Lewin Fanny , Delvalez‐Morichon Nicole , Nihoul‐Fekete Claire , Bargy Fréderic , Dumez Yves , Boue André 
Published: March 2007

AbstractThe diagnostic value of amniotic fluid gamma‐glutamyl‐transpeptidase (GGTP) and intestinal alkaline phos‐phatase (iALP) was evaluated in 55 patients who underwent amniocentesis for karyotyping because fetal gastric or small bowel dilatation had been detected by ultrasound. Gastrointestinal malformation was confirmed in 46 cases and there was no gastrointestinal anomaly in nine cases. Prenatal ultrasound was suggestive of gastroduodenal dilatation in 34 cases (group I) and small bowel dilatation in 21 cases (group II). In group I, amniotic fluid GGTP above the 99th percentile was 71 per cent sensitive and 100 per cent specific for a true anatomical defect of the digestive tract (mainly duodenal atresia). In group II, high levels of GGTP and/or iALP were 69 per cent sensitive and 83 per cent specific for a fetal digestive tract anomaly. In other words, when digestive tract dilatations were diagnosed by prenatal sonography, abnormal amniotic fluid enzyme activities were strongly suggestive of such an anomaly, the possibility of which was not precluded by normal amniotic fluid iALP and GGTP activities. But amniotic fluid digestive enzyme activities do not help in defining the prognosis.