bluuebunny/crossref_metadata_2025_split huggingface dataset:
Normal blood cell values in the early mid‐trimester fetus
Authors: Millar D. S. , Davis L. R. , Rodeck C. H. , Nicolaides K. H. , Mibashan R. S. 
Published: March 2007

AbstractSamples of pure fetal blood from 116 fetuses of 15–21 weeks' gestation were obtained by direct vision fetoscopy. Ninety nine of these fetuses, presumed to be haematologically normal, were suitable for analysis. The data obtained show that the erythropoietic system is evolving rapidly in this gestational age range. The myeloid series shows no significant increase or decrease in numbers apart from eosinophils and basophils which increase significantly with gestational age whereas the platelet count remains constant. The growing application of fetoscopic blood sampling to the prenatal diagnosis and management of fetal blood disorders renders mandatory a knowledge of normal fetal blood values.
Effects of mid‐trimester induced abortion on the subsequent pregnancy
Authors: Seller Mary J. , Hancock Philippa C. 
Published: March 2007

AbstractThe outcome of the pregnancy following (a) a mid‐trimester termination of pregnancy (TOP) for fetal neural tube defect (NTD) (77 women=group 1); (b) mid‐trimester TOP for fetal Down's syndrome (13 women=group 2); (c) delivery of a baby with NTD (119 women=group 3) was studied. The prenatal fetal loss was relatively high in all groups. In group 1 it was similar to that found in other studies after first trimester TOP, in group 2 it was associated with advanced maternal age and the unexpected finding in group 3 was not attributable to advanced maternal age. It is suggested that a previous NTD per se might increase the risk of fetal loss in the next pregnancy. A previous mid‐trimester TOP for NTD was not associated with an increase in premature labour, small for dates babies or congenital abnormality in the next pregnancy, but there was a slight increase in the number of babies weighing less than 2500 g.
Cytogenetic prenatal diagnosis and its relative effectiveness in the mersey region and North Wales
Authors: Walker S. , Howard P. J. 
Published: March 2007

AbstractThe relative effectiveness of cytogenetic prenatal diagnosis in the Mersey Region and North Wales is presented by estimating the percentage detection rates of Down's syndrome annually following amniocentesis from 1978–1984 inclusive. Tables indicating the percentage of screened pregnancies, types of chromosomal aberrations detected and the occurrence of Down's syndrome in mothers in age groups of five‐year intervals are also presented.The average prenatal detection rate for Down's syndrome (estimated at the time of birth) was 15–15 per cent over the years 1978–1984 and was above 22 per cent for the last two years when 44–13 per cent of all pregnancies to mothers of 35 years and over were investigated.
Clinical significance of persistent amniotic fluid leakage after genetic amniocentesis
Authors: Crane James P. , Rohland Barbara M. 
Published: March 2007

AbstractChronic amniotic fluid leakage is a rare complication of genetic amniocentesis. Pregnancy outcomes in two such patients are presented and six previous cases reviewed. Although chorioamnionitis has not been reported, potentially serious complications may occur including an increased risk for pre‐term delivery and fetal skeletal deformity. While conservative management of post‐amniocentesis amniotic fluid leakage is advocated, patients should be advised of these risks.
Antenatal sonographic diagnosis of arthrogryposis multiplex Congenita
Authors: Goldberg James D. , Chervenak Frank A. , Lipman Robert A. , Berkowitz Richard L. 
Published: March 2007

AbstractArthrogryposis Multiplex Congenita (AMC) was suspected on ultrasound examination of a fetus at 30·5 weeks of gestation. The criteria for establishing this prenatal diagnosis as well as the importance of establishing the diagnosis at any gestational age are discussed. The diagnosis of AMC was confirmed at birth in this case.
Chorionic villi sampling changes maternal serum alpha‐fetoprotein
Authors: Mariona Federico G. , Bhatia Rupi , Syner Frank N. , Koppitch Frederick 
Published: March 2007

AbstractSecond trimester amniocentesis has traditionally been utilized for prenatal genetic diagnosis. Chorionic villi sampling (CVS) is presently offered as an alternative. The occurrence of fetomaternal bleed (FMB) during CVS could increase the rate of post sampling abortion and, additionally, be of significance in patients at risk for isoimmunization. Detection and quantitation of FMB can be accomplished by the determination of changes in maternal serum alpha‐fetoprotein (MSAFP) before and after CVS.
Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling
Authors: Tharapel Avirachan T. , Ward Jewell C. , Wiggins Lee , Wilroy R. Sid 
Published: March 2007

AbstractDuring prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to be a rare abnormality with only seven families reported thus far including ours. Infants with duplication deficiencies for chromosome 19 have not been reported in these families. This may suggest an apparent suppression of crossing over and recombination within the inverted segment of chromosome 19 during meiosis.
Neural tube defects in trisomy 18
Authors: Flannery David B. , Kahler Stephen G. 
Published: March 2007

AbstractIn a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.
The development of fetal behavioural states: A longitudinal study
Authors: Arduini D. , Rizzo G. , Giorlandino C. , Valensise H. , Dell'Acqua S. , Romanini C. 
Published: March 2007

AbstractIn order to evaluate the development of fetal behavioural states a longitudinal study was performed on 35 healthy fetuses during the last trimester of pregnancy. Fetal heart rate (FHR), gross fetal body movements (FM), fetal eye movements (FEM), fetal breathing movements (FBM) and micturition were simultaneously studied at two‐week intervals from 28 weeks gestation onwards. Well‐defined fetal behavioural states were observed only after 36 weeks gestation. Between 28 and 36 weeks the quiet‐activity cycle of FHR was always detected and some fetal biophysical activites seemed to become related around this cycle.
Transabdominal chorionic villi sampling for first trimester fetal diagnosis. First 26 pregnancies followed to term
Authors: Smidt‐Jensen Steen , Hahnemann Niels , Hariri Jalil , Jensen Peter K. A. , Therkelsen Aage J. 
Published: March 2007

AbstractA consecutive series of 26 women followed to term after first trimester transabdominal chorionic villi sampling is presented. The clinical application of transabdominal chorionic villi sampling (TA‐CVS) seems to have certain advantages, especially from the patients' point of view, but also in regard to successful sampling and to the complication ratio. The results in this clinical trial revealed no cases of abortions, no signs of placental damage and no cases of vaginal bleeding or infections.
Prenatal diagnosis of dyssegmental dwarfism
Authors: Kim Hyon Ju , Costales Fernando , Bouzoukl Maria , Wallach Robert C. 
Published: March 2007

AbstractFetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.
Mosaicism of isochromosome 18p.
Authors: Göcke H. , Muradow I. , Zerres K. , Hansmann M. 
Published: March 2007

AbstractThe first case of isochromosome 18p as a mosaic in a male fetus diagnosed by amniocentesis is reported. After termination of the pregnancy at 21 weeks gestation biopsies from different fetal organs as well as from the placenta were taken and set up for long term cell cultures. The distribution of the normal and abnormal cell‐line in fetal organs was unequal. Unexpectedly the metaphases in the placenta and the lymphocyte culture all showed a normal karyotype.The tetrasomy 18p is associated with a uniform phenotype, even in fetal life, characterized by a small head with protuberant occiput, low‐set ears with posterior rotation, epicanthic fold, sharp pinched nose, convex and poorly formed philtrum, high‐arched palate, retrognathia, flexion contractures of fingers, short and broad hallux, hypoplastic penis, angulation of clavicles and mild scoliosis.The propositus showed no growth retardation.
Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centres
Authors: Daniel A. , Boué A. , Gallano P. 
Published: March 2007

AbstractThe Data of the European Cooperative Prenatal Diagnosis Laboratories (Boué and Gallano, 1984) of 596 prenatal (amniocyte) diagnoses of familial rep was examined as to relationships between balanced/unbalanced result and ascertainment, carrier parent and chromosome imbalance size (percentage haploid autosome length). Each rearrangement was graphed once with actual (unbalanced result) or potential (normal or balanced result) imbalances plotted with trisomy as the ordinate and monosomy as the abscissa. The graphed data was divided into 15 regions, each of 2·0 per cent trisomy and 0·75 per cent monosomy and the rate of unbalanced pregnancies determined for each region. The highest rates of chromosomally unbalanced progeny (excluding regions with inadequate data) were found closest to the origin (i.e. associated with the smallest imbalances) and these were for ascertainment category 1 (previous rep unbalanced child) 22·3 per cent for maternal carriers and 39 per cent for paternal carriers. Overall in pooled data for this ascertainment category (without reference to the imbalance graphs) there were for paternal carriers 28·6 per cent unbalanced pregnancies and for maternal carriers 18·1 per cent. The graphed data, therefore, revealed the higher rates associated with some of the rep with small potential (combined duplication/ deficiency) imbalances. Lesser rates were observed for ascertainment category 2 (carrier parent with a history of recurrent miscarriage) with overall percentages of imbalanced progeny ranging from 2·7 (paternal carriers) to 4·7 (maternal carriers). Again, higher rates were revealed in graphed data for small potential imbalances. All unbalanced results for this group (ascertainment category 2) plotted in the region closest to the origin with rates of 16 per cent (maternal carriers) and 9·5 per cent (paternal carriers) in this region. Remarkably in both ascertainment groups 1 and 2 there was no significant difference in the size of the imbalanced segments for unbalanced progeny. In ascertainment group 1 this was (dup/def; mean ±S.D.): 1·09±0·77/0·47 ± 0·45 and in ascertainment group 2: 1·09 ±0·80/0·66±0·71. From the graphed data which arguably denote viability relationships, a trisomy was approximately 2·7 times as likely to survive until amniocentesis as a monosomy of equivalent size.It is proposed that given further data, risk estimates could be determined for rep heterozygotes using the present approach where empiric data (from the family history or an analysed series of similar rep) is not available.
Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluid
Authors: Claass Andreas H. W. , Kleijer Wim J. , Van Diggelen Otto P. , Van Der Veer Eveline , Sips Herman J. 
Published: March 2007

AbstractThe potential value of microvillar enzymes in the prenatal diagnosis of cystic fibrosis (CF) has previously been demonstrated and is corroborated in the present comparative study. Maltase and alkaline phosphatase (ALP) activities were studied in the amniotic fluids of 57 pregnancies with a 1 in 4 risk for CF or with a known CF outcome and in 489 controls.A simple assay for maltase activity (MU‐maltase) with the fluorogenic substate 4‐methylumbelliferyl α‐glucoside, offers great technical advantages and an at least equal detection rate of CF, when compared to the previously used test with maltose as substrate.Intestinal ALP was estimated either as phenylalanine inhibitable activity (PI‐ALP) or as the proportions of residual activity in the presence of the inhibitors phenylalanine or homoarginine. MU‐maltase and PI‐ALP appeared the most successful methods: both tests were able to detect 14 of the 16 (88 per cent) pregnancies with fetal CF. Each of the two tests alone also allowed a correct prediction in 24 of the 25 pregnancies at risk but with normal outcome; however all 25 cases could be correctly predicted by a combined evaluation.It is suggested that more than one intestinal enzyme activity should be evaluated to allow optimal results in the prenatal monitoring of pregnancies at high risk for CF.
The in utero diagnosis and management of alloimmune thrombocytopenia
Authors: Lynch Lauren , Bussel James , Goldberg James D. , Chitkara Usha , Wilkins Isabelle , Macfarland Jan , Berkowitz Richard L. 
Published: March 2007

AbstractA case is presented in which percutaneous umbilical sampling (PUBS) was utilized in the second and third trimesters for the diagnosis and management of a pregnancy at risk for neonatal alloimmune thrombocytopenia (NAIT).
Easurements of placental, decidual, and fetal proteins before and after chorionic villus sampling
Authors: Stabile I. , Warren R. , Rodeck C. , Grudzinskas J. G. 
Published: March 2007

AbstractCirculating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy‐associated plasma protein A (PAPP‐A), decidual (pregnancy protein) 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic villus sampling (CVS) in the first trimester. An elevation of serum AFP levels was consistently seen, while fluctuations in excess of 10 per cent of the pre‐CVS levels of SP1 and PP12 were seen in the majority of patients. Fluctuations in hCG and PAPP‐A were consistently less than 10 per cent of pre‐CVS values. Post‐CVS changes in levels were not apparently associated with any feature of the technique, the pregnancy, or its outcome (one missed abortion). As feto‐maternal haemorrhage is a common event, anti‐D should be offered to rhesus‐negative women undergoing CVS. In the prediction of subsequent miscarriage, only hCG and PAPP‐A measurements should be considered.
First trimester diagnosis of Wolman's disease
Authors: Van Diggelen O. P. , Von Koskull H. , Ämmälä P. , Vredeveldt G. T. M. , Janse H. C. , Kleijer W. J. 
Published: March 2007

AbstractWolman's disease was diagnosed in the first trimester of pregnancy by the direct demonstration of acid lipase deficiency in chorionic villi. The diagnosis was confirmed by studies on cultured chorionic villus cells and fetal skin fibroblasts. Acid lipase activity was assayed with both 4‐methylumbelliferyl‐palmitate and radiolabelled cholesterol oleate as substrates. The higher specificity of the enzyme for the latter, natural, substrate makes it superior in prenatal diagnosis.
The fetal intrahepatic umbilical vein as an alternative to cord needling for prenatal diagnosis and therapy
Authors: Nicolini U. , Santolaya J. , Ojo O. E. , Fisk N. M. , Hubinont C. , Tonge M. , Rodeck C. H. 
Published: March 2007

AbstractSeventy‐one fetal blood samplings (FBS) were attempted from the intrahepatic portion of the umbilical vein (IHV) at 18–34 weeks; 54 were attempted primarily and 17 secondarily after a failed attempt at the placental cord insertion. Fetal blood was obtained in 89 per cent of the cases. Intravascular transfusion (IVT) was attempted on 31 occasions and successful in 24 (77 per cent). In all cases of failed sampling or transfusion via the IHV, prenatal diagnosis and/or therapy was accomplished using alternative procedures. On only one occasion was the procedure postponed. There were no losses or neonatal morbidity attributable to the procedure.FBS from the IHV may be considered as an alternative approach to sampling the placental cord insertion. It is recommended in cases where the approach to the placental cord insertion is difficult or hazardous.
Prenatal diagnosis and management of fetal ovarian cysts
Authors: Rizzo Nicola , Gabrielli Sandro , Perolo Antonella , Pilu Gianluigi , Cacciari Alfredo , Domini Remigio , Bovicelli Luciano 
Published: March 2007

AbstractCongenital ovarian cysts are a pathological condition which can be diagnosed in utero by ultrasound. We report 14 consecutive diagnoses of fetal ovarian cysts, obtained in the second and third trimesters of pregnancy. Congenital ovarian cysts have almost invariably a good prognosis, and no change in the standard obstetrical management is required. However, the evolution of the disease in utero is extremely variable. The cyst may increase in size, decrease or even disappear, or undergo complications such as torsion and rupture, which may carry some risks to the fetus. When a fetal ovarian cyst is detected, serial ultrasound examinations should be performed. If one of the above complications is suspected, the option of prompt caesarean section should be considered.
Prenatal detection of trisomy 9 mosaicism
Authors: Schwartz S. , Ashai S. , Meijboom E. J. , Schwartz M. F. , Sun C. C.‐J. , Cohen M. M. 
Published: March 2007

AbstractChromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism—an inconsequential tissue culture artefact; or (2) true mosaicism—occurring in approximately 0.0 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, + 9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non‐specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.
A 1 and 6 month follow‐up of prenatal diagnosis patients who lost pregnancies
Authors: Black Rita Beck 
Published: March 2007

AbstractThis paper reports results of an exploratory study of prenatal diagnosis patients who experienced voluntary terminations of pregnancy following the detection of an abnormality or spontaneous miscarriages. The 121 participants were part of the national collaborative Chorionic Villus Sampling and Amniocentesis Study. They completed semi‐structured telephone interviews and mailed questionnaires at 1 month and 6 months after the pregnancy losses. Scores on the Profile of Mood States showed that mood levels improved significantly over time. However, there were some declines in loss‐related support from partners and others. The persisting distress and difficulties of a minority highlight the variability in women's responses to pregnancy losses. Women who lost pregnancies later in gestation, showed the greatest mood disturbances at initial assessments, used professional mental health assistance after the loss, or reported less satisfactory loss‐related support from significant others showed the greatest levels of mood disturbance at the six‐month assessment. Follow‐up contacts with patients who lose pregnancies should be used to inform women about the variation in possible grief reactions, to assess the extent of support the women are receiving from their partners and significant others, and to provide additional follow‐up or referral of those experiencing the greatest distress.
Alpha‐fetoprotein and acetylcholinesterase in twins discordant for neural tube defect
Authors: Johnson Virginia P. , Vidgoff Jaclyn , Wilson Nancy , Madison Dean 
Published: March 2007

AbstractTwins concordant for elevated alpha‐fetoprotein (AFP) and acetylcholinesterase (AChE) and discordant for neural tube defect (NTD) and sex are reported. A literature review reveals instances of termination of twin pregnancies with one normal and one abnormal fetus, partly based on concordant high AFP and positive AChE (although discordant on ultrasound examination). The levels of AFP and AChE in twin pregnancies are probably a function of the number of layers of fetal membranes separating twin sacs: dichorionic, diamniotic membranes allow transfer of AFP; monochorionic, diamniotic membranes allow transfer of both AFP and AChE. Cautious interpretation of biochemical findings and reliance on high resolution ultrasonography are suggested.
Prenatal karyotyping in malformed fetuses
Authors: Rizzo Nicola , Pittalis Maria Carla , Pilu Gianluigi , Orsini Luigi Filippo , Perolo Antonella , Bovicelli Luciano 
Published: March 2007

AbstractExperience with prenatal karyotyping of 237 fetuses with sonographic evidence of malformation is reported. Abnormal karyotype was found in 40 cases (16‐8 per cent): chromosomal aberrations were found in 19 of the 178 fetuses with an isolated structural anomaly (10‐6 per cent) and in 21 of the 59 fetuses with multiple malformations (35‐6 per cent). Detailed cytogenetic and morphological information concerning fetuses affected by omphalocele, duodenal atresia, hydrocephalus, multicystic kidney, unilateral hydronephrosis and cystic hygroma is reported. The need for a very careful ultrasound evaluation of fetal anatomy in these pregnancies is stressed, as the risk of a chromosomal anomaly depends mainly on the existence of more than one ultrasonically diagnosed structural defect.
Diagnosis and significance of cystic hygroma in the first trimester
Authors: Cullen Mark T. , Gabrielli Sandro , Green Jacqueline J. , Rizzo Nicola , Mahoney Maurice J. , Salafia Carolyn , Bovicelli Luciano , Hobbins John C. 
Published: March 2007

AbstractThirty cases of cervical cystic hygroma were diagnosed in the first trimester of pregnancy. Karyotype analysis was available in 29 (97 per cent). Fifteen (52 per cent) had a chromosomal abnormality. The ultrasound appearance was described as posterior cervical, lateral cervical, or cervical hygroma with hydrops. Of the 14 euploid embryos, six were electively aborted, two are undelivered, and six have been delivered as phenotypically normal infants. In cases in which the chromosomes were normal and the pregnancy continued, all lesions resolved by 18 weeks.