bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal sonographic diagnosis of a third ventricle choroid plexus papilloma
Authors: Adra Abdallah M. , Mejides Andres A. , Salman Fawwaz A. , Landy Helain J. , Helfgott Andrew W. 
Published: March 2007

AbstractWe report a case of fetal hydrocephalus secondary to a third ventricle choroid plexus papilloma detected by ultrasound at 33 weeks' gestation. The prenatal sonographic and colour flow Doppler findings of this rare fetal intracranial tumour are discussed.
Minute chromatin structures in cells of amniotic fluid—an interpretative dilemma
Authors: Wang Hungshu , Bellinger Judith L. , Brierley Kathleen , Dawson Laura E. , Goldsmith Claire L. , Hunter Alasdair G. W. 
Published: March 2007

AbstractSingle copies of tiny chromosome fragments, appearing either as single or as double minutes, were observed in a high frequency in amniotic fluid cultures of five mothers who underwent prenatal testing because of advanced age. In four cases, the minutes had arisen de novo. The minutes were later confirmed in fetal skin following termination of pregnancy in one case; in another, in cord blood following the birth of a normal boy; and in the third, in peripheral blood of a normal 3‐year‐old girl. In the fourth case, the minutes were not confirmed in cord blood following the birth of a normal boy. A follow‐up chromosome study of the baby boy in the fifth case was not possible but the minutes were maternally transmitted.
Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow‐up
Authors: Meck Jeanne M. , Kozma Chahira , Tchabo Jean‐Gilles , King Jeffrey C. , Lencki Shaun , Pinckert Thomas L. 
Published: March 2007

AbstractFollow‐up evaluations were performed on a child at the ages of 2 years 8 months and also at 5 years who had been found on prenatal amniocentesis to be mosaic for trisomy 12. Eight of 36 colonies (22 per cent) were trisomy 12 at amniocentesis, with the remaining colonies showing a normal female karyotype. Cord blood, amnion, chorion, placental, and skin fibroblast chromosome studies failed to show any further evidence of a trisomy 12 cell line. At her evaluations, the child had normal physical and neurological findings. Psychomotor development was appropriate for age on screening.
In utero development of a mediastinal teratoma: A second‐trimester event
Authors: Froberg M. Kent , Brown Robert E. , Maylock John , Poling Eric 
Published: March 2007

AbstractMediastinal teratomas have rarely been discovered during the prenatal period. When seen during the neonatal period, these tumours have caused respiratory distress or hydrops fetalis. We present the sonographic and pathological findings of a rapidly developing anterior mediastinal teratoma causing hydrops fetalis and in utero demise at 27 weeks' gestation.
Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome
Authors: Weinblatt Mark , Petrikovsky Boris , Bialer Martin , Kochen Joseph , Harper Rita 
Published: March 2007

AbstractA fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery.
Tumour‐associated antigens in maternal and fetal blood
Authors: Hohlfeld Patrick , Dang Thi‐Tan , Nahoul K. , Daffos Fernand , Forestier François 
Published: March 2007

AbstractNormal levels of cancer‐associated antigen (CA) 19‐9, neurone‐specific enolase (NSE), cancer‐associated antigen (CA) 125, and mucin‐like carcinoma‐associated antigen (MCA) during pregnancy were determined in 87 mothers and fetuses, using a solid‐phase sandwich enzyme immunoassay. CA 19‐9 concentrations were higher in the fetuses, whereas the other three tumour‐associated antigen levels were higher in the mothers. Only fetal NSE and MCA levels were positively correlated with those in maternal serum. Contrary to adult samples, no difference was demonstrated between male and female fetal levels of CA 125. MCA was the only maternal marker that increased significantly with gestational age between 20 and 34 weeks' pregnancy.
Identification of a novel β0 ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis
Authors: Waye John S. , Eng Barry , Olivieri Nancy F. , Chui David H. K. 
Published: March 2007

AbstractWe present a case in which a Greek couple was considered not to be at risk of having children with homozygous β‐thalassaemia, an assessment based largely on the father's belief that he carried α‐thalassaemia. After their first child was diagnosed with homozygous β‐thalassaemia, the case was re‐assessed and both parents were shown to have the haematological profile of β‐thalassaemia trait. Screening for the common Mediterranean mutations demonstrated that the mother carries the IVS‐1 nt 110 G→A β+ ‐thalassaemia mutation. Direct nucleotide sequencing of PCR‐amplified DNA revealed that the father carries a novel β0‐thalassaemia mutation, frameshift codons 9/10 (+T). The couple's second pregnancy was terminated after prenatal testing revealed that the fetus had inherited both parental mutations. This case illustrates the need to confirm the carrier status of individuals prior to assessing their genetic risks, and highlights the importance of being able to identify rare or novel β‐thalassaemia mutations.
Second‐trimester diurnal variation of maternal serum alpha‐fetoprotein, human chorionic gonadotropin, and unconjugated oestriol: Is it present and does it affect the prediction of a patient's risk for fetal down syndrome?
Authors: Rose Nancy C. , Canick Jacob A. , Knight George J. , Pulkkinen Andrea , Tumber M. B. , Mennuti Michael T. , Palomaki Glenn E. 
Published: March 2007

AbstractBoth a cross‐sectional and a longitudinal study were performed to investigate whether or not the collection time should be taken into consideration when generating a patient's risk for fetal Down syndrome with multiple marker screening. Diurnal variations of third‐trimester alpha‐fetoprotein (AFP) levels and first‐trimester human chorionic gonadotropin (hCG) levels have been previously reported. In addition, large episodic fluctuations of conjugated and unconjugated oestriol (uE3) as well as a diurnal variation have also been reported in the third trimester. If the levels of these analytes routinely fluctuate during the day, they could affect a patient's risk calculation for fetal Down syndrome. The longitudinal study evaluated ten non‐diabetic women who underwent sequential sampling for AFP, hCG, and uE3. The cross‐sectional study evaluated 1953 patients for these three markers whose time of sampling was recorded between 8·00 a.m. and 5·59 p.m. Using either study design, no significant effect was seen in the median MOM levels of the screening analytes as a function of the time of day.
Urinary β‐core human chorionic gonadotrophin: A new approach to Down's syndrome screening
Authors: Cuckle H. S. , Iles R. K. , Chard T. 
Published: March 2007

AbstractHuman chorionic gonadotrophin (hCG) is the most discriminatory maternal serum marker of Down's syndrome. We have carried out a study to establish whether urinary β‐core‐hCG, a major metabolic product of hCG, might be an even better marker. Urine samples were available from seven singleton pregnancies with Down's syndrome, and one each of Edwards' syndrome, triploidy, and twins discordant for Down's syndrome. β‐Core‐hCG levels were corrected for creatinine and expressed as multiples of the normal gestation‐specific median (MOM) level derived from 67 singleton controls. There was a highly statistically significant elevation in level among the singleton Down's syndrome cases (P<0·0005; Wilcoxon rank sum test). All had levels exceeding 2 MOM with a median of 6·11 MOM (95 per cent confidence interval 3·7–10·0). The levels were extremely low in Edwards' syndrome (0·08 MOM) and triploidy (0·02 MOM), but the twin pregnancy discordant for Down's syndrome did not have a raised β‐core‐hCG level (0·64 MOM). The findings are sufficiently encouraging to investigate the possibility of urinalysis as a routine modality in the prenatal screening for Down's syndrome and other common serious aneuploidies.
Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria
Authors: Romano Valentino , Dianzani Irma , Ponzone Alberto , Zammarchi Enrico , Eisensmith Randi , Ceratto Nadia , Bosco Paolo , Indelicato Anna 
Published: March 2007

AbstractA polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III‐VNTR) flanked by two constant Hind III sites (Goltsov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by the polymerase chain reaction (PCR) and gel electrophoresis. We report on the use of these two novel polymorphisms in three Italian families with pregnancies at risk for classical phenylketonuria (PKU). A carrier status for PKU was ascertained in two fetuses; the third family refused prenatal diagnosis, although informativeness was shown to be complete.
Hyperechoic fetal bowel: The perinatal consequences
Authors: Bahado‐Singh R. , Morotti R. , Copel I. A. , Mahoney M. J. 
Published: March 2007

AbstractA number of publications have reported an association between the finding of hyperechoic fetal bowel on prenatal sonogram and disorders such as aneuploidy and cystic fibrosis. To define more precisely the significance of this finding, we systematically reviewed the published material on the subject. Based on a total of 357 reported cases, we documented a high prevalence of cystic fibrosis (25·6 per cent) and chromosome abnormality (12·4 per cent) associated with increased bowel echogenicity in the fetus. High rates of intrauterine growth retardation (14·9 per cent), fetal demise (9·0 per cent), and prematurity (15·3 per cent) were also found. The data were obtained from a population at high a priori risk for aneuploidy and included fetuses at 1 in 4 risk for cystic fibrosis reported in two studies. This increased the bias towards an adverse outcome. The rate of complications when a hyperechoic abdomen is noted in a low‐risk fetal population has so far not been delineated. Although the high frequency of complications found is of concern and warrants investigation, extrapolation of these risk figures to a fetal population at low a priori risk may not be appropriate.
Prenatal diagnosis of the Klippel‐Trenaunay‐Weber syndrome
Authors: Jorgenson Ronald J. , Darby Byron , Patterson Robert , Trimmer Kenneth J. 
Published: March 2007

AbstractThe Klippel‐Trenaunay‐Weber syndrome is a complex developmental disorder of the vascular and skeletal systems. While many features of the syndrome are congenital, it has not been diagnosed often before birth. This paper describes a case of Klippel‐Trenaunay‐Weber syndrome diagnosed at 19 weeks' gestation on the basis of sonographic findings and family history. The clinical variability of the syndrome is emphasized and the importance of family history in differential diagnosis is stressed.
Intrauterine intervention in a case of recurrent meconium peritonitis
Authors: Shyu Ming‐Kwang , Chen Chin‐Der , Hsieh Fon‐Jou , Yau Kuo‐Inn Tsou , Lin Ghi‐Jen , Lee Ming‐Liang 
Published: March 2007

AbstractWe present a case of recurrent meconium peritonitis detected in the second trimester and treated by intrauterine intervention. Antenatal ultrasound findings included fetal ascites and intra‐abdominal calcification. Aspiration of fetal ascites under ultrasound guidance and determination of the bilirubin concentration established the diagnosis of meconium peritonitis. Paracentesis was repeated to remove irritating intestinal contents and to decrease pressure on the fetal thorax. Although the exact cause of the meconium peritonitis remains unknown, the recurrence of the condition suggests a genetic basis. A possibility of cystic fibrosis was not considered because the clinical picture did not suggest it. Intrauterine intervention helped to establish the diagnosis of meconium peritonitis and may have contributed to the good outcome.
Prenatal diagnosis of bartter syndrome
Authors: Shalev H. , Ohaly M. , Meizner I. , Carmi R. 
Published: March 2007

AbstractBartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at‐risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.
Improvement of prenatal diagnosis of wilson disease using microsatellite markers
Authors: Loudianos G. , Figus A. L. , Loi A. , Angius A. , Dessì V. , Deiana M. , De Virgiliis S. , Monni G. , Cao A. , Pirastu M. 
Published: March 2007

AbstractThis paper describes a case of prenatal diagnosis for Wilson disease (WD) carried out in an at‐risk couple of Sardinian descent, following non‐directive genetic counselling. Diagnosis was obtained by using eight microsatellites located within or flanking the WD locus, six of which were 100 per cent and two 50 per cent informative. The use of several markers may limit the occurrence of misdiagnosis resulting from recombination or instability of repeats.
Successful outcome of pregnancy after treatment of maternal anti‐ro (SSA) antibodies with immunosuppressive therapy and plasmapheresis
Authors: Van Der Leij J. N. , Visser G. H. A. , Bink‐Boelkens M. Th. E. , Meilof J. F. , Kallenberg C. G. M. 
Published: March 2007

AbstractIn this short communication we describe a patient with anti‐SSA and anti‐SSB antibodies whose first child died of congenital complete heart block (CCHB). During her second pregnancy she was treated with prednisolone, azathioprine, and plasmapheresis, and levels of anti‐SSA and anti‐SSB antibodies fell significantly. The pregnancy evolved uneventfully and resulted in the birth of an unaffected male infant. This is the fourth reported case of a successful outcome of pregnancy after treatment with immunosuppressive drugs in a woman with a significant risk of recurrence of CCHB.
Exclusion of chromosomal mosaicism in amniotic fluid cultures: Determination of number of colonies needed for accurate analysis
Authors: Featherstone Terence , Cheung Sau W. , Spitznagel Edward , Peakman David 
Published: March 2007

AbstractMost laboratories use the in situ or flask culture method and a two‐stage approach to mosaicism detection. Determination of the optimum number of metaphases to be counted depends largely on whether or not the colonies that grow from the cells in the amniotic fluid can be considered independent. Previous statistical analysis of data from mixed male and female amniocyte cultures indicated that for mosaicism detection these colonies can be considered independent (Cheung et al., 1990). This analysis was repeated with a set of mosaic cases from two independent prenatal diagnosis programmes. The same degree of colony independence was found with this set of data. This result was used to calculate the level of mosaicism that is excluded at a particular confidence level when set numbers of colonies are analysed at each stage. The tables generated apply directly to the in situ method and with modification they can be used with the flask method. The conclusions are (1) analysis of cells from multiple colonies enhances the likelihood of excluding true mosaicism; (2) analysis of more than one metaphase per colony offers little advantage in excluding mosaicism; and (3) the two‐stage approach is the most efficient. These conclusions should be used together with the expected clinical outcome of the actual cytogenetic abnormality, as discussed by Hsu et al. (1992).
Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization
Authors: Blennow Elisabeth , Bui The‐Hung , Kristoffersson Ulf , Vujic Mihailo , Annerén Göran , Holmberg Eva , Nordenskjöld Magnus 
Published: March 2007

AbstractDuring 7 years (1985–1992), 39 105 consecutive prenatal diagnoses (34 908 amniocenteses and 4197 chorionic villus samples) were made at the five largest clinical genetic laboratories in Sweden. Thirty‐one cases of extra structurally abnormal chromosomes (ESACs) were found, giving a total prevalence of 0·8 per 1000. Twelve ESACs were inherited, 14 were de novo and in five the parental origin was unknown. This gives an estimated prevalence of 0·3–0·4 per 1000 for familial and 0·4–0·5 per 1000 for de novo ESACs. Retrospectively, the ESACs were characterized by fluorescence in situ hybridization (FISH). In nine cases, no material was available for this analysis. In 21 of the remaining 22 cases, the chromosomal origin could be identified by FISH. Seventeen of these (81 per cent) were derived from the acrocentric chromosomes, of which 13 originated from chromosome 15 (62 per cent). The most common ESAC was the inv dup(15) (57 per cent). Two cases were derived from chromosome 22, one from chromosome 14, and one from either chromosome 13 or chromosome 21. The four remaining cases consisted to two i(18p)s and two small ring chromosomes derived from chromosomes 4 and 19, respectively.
Prenatal ultrasonic diagnosis of obstructive bowel disease: A retrospective analysis
Authors: Heydanus R. , Spaargaren M. C. , Wladimiroff J. W. 
Published: March 2007

AbstractFetal obstructive bowel disease was diagnosed in 29 patients at 22–37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69, XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic ‘double bubble’ sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20).
Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five‐colour fluorescence in situ hybridization
Authors: Divane A. , Carter N. P. , Spathas D. H. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractIn this paper we describe the use of five‐colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual‐labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.
Prenatal activity of a fetus with early‐onset, severe spinal muscular atrophy
Authors: Kirkinen P. , Ryynänen M. , Haring P. , Torkkeli H. , Pääkkönen L. , Martikainen A. 
Published: March 2007

AbstractA case of early‐onset, severe spinal muscular atrophy is reported. Normal fetal breathing movement patterns and heart rate accelerations were observed in spite of the severe hypotonia evident at birth.
MSAFP levels and oesophageal atresia
Authors: Chodirker B. N. , Chudley A. E. , Macdonald K. M. , Harman C. R. , Evans J. A. 
Published: March 2007

AbstractThis study was undertaken to evaluate the relationship between maternal serum alpha‐fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut‐off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.
Prenatal diagnosis of renal agenesis in a twin gestation
Authors: Kuller Jeffrey A. , Coulson Carol C. , McCoy M. Cathleen , Altman Georgia C. , Thorp John M. , Katz Vern L. 
Published: March 2007

AbstractBilateral renal agenesis is a lethal congenital anomaly. It appears to be transmitted in a polygenic pattern. The prenatal ultrasound findings consist of severe oligohydramnios, absence of the fetal bladder, and failure to identify fetal kidneys. Twin gestations with renal agenesis have been described in the paediatric literature. We detail a case of a patient with two prior affected pregnancies with bilateral renal agenesis. Her latest pregnancy was diagnosed prenatally, with one fetus with bilateral and the other fetus with unilateral renal agenesis. The ultrasound findings should be differentiated from the stuck twin phenomenon.
Does chorionic villus sampling compromise fetal umbilical blood flow?
Authors: Hibbard Judith U. , Loy Gary L. , Hibbard Mark C. 
Published: March 2007

AbstractA possible association of limb reduction defects with chorionic villus sampling (CVS) may be related to compromised umbilical blood flow from the trauma of the procedure. We hypothesized that because CVS may disrupt or compromise umbilical blood flow to the fetus, either by vasoconstriction, bradycardia, or emboli, we would detect these changes using Doppler velocimetry. A cohort of 21 consecutive consenting patients undergoing first‐trimester elective CVS for prenatal diagnosis were entered into a prospective longitudinal study. Colour flow Doppler velocimetry was performed on fetal umbilical arterial blood flow immediately before and after CVS to measure the pulsatility index, fetal heart rate, per cent flow time, and maximum flow velocity. Measurements were obtained from three consecutive cardiac cycles in three different umbilical segments and averaged. Potentially confounding variables also recorded included gestational age, method of CVS, number of passes, number of aspirations, placental location, tissue sample size, and operator. Umbilical velocimetry values before and after CVS were compared using the paired t‐test and showed no statistically significant differences. No differences were found when data were analysed by gestational age, sample size, method, number of aspirations, placental location, or operator. We were unable to detect any significant change in fetal umbilical arterial blood flow velocimetry or heart rate after performing CVS. Umbilical blood flow does not appear to be routinely compromised by CVS.