bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of peripheral maternal blood samples for the presence of placenta‐derived cells using Y‐specific probes and McAb H315
Authors: Covone Angela E. , Kozma Robert , Johnson Peter M. , Latt Samuel A. , Adinolfi Matteo 
Published: March 2007

AbstractUsing flow cytometry, a small number of cellular elements expressing on their surface an antigen (H315) produced by placental trophoblast have been observed in the peripheral blood of pregnant women. This is in agreement with previous observations (Covone et al., 1984a,b) and recent results documenting the presence of a small number of H315‐positive cells in the peripheral circulation of pregnant women (Pool et al., 1987; Caligaris‐Cappio and Camaschella, personal communication).When DNA extracts, prepared from H315‐positive cells sorted from maternal samples were tested by Southern transfer using Y‐specific probes (Y190 or Y411), a Y‐specific band could not be detected in any sample analysed, irrespective of the sex of the fetus. In control samples from healthy male donors, a Y‐specific band could be detected with as few as 800 46,XY cells without interference from contaminating 46,XX cells.H315‐positive cellular elements, sorted by flow cytometry from the maternal peripheral blood, were also examined in interphase using Y‐specific probes (Y190 and Y431) and an in situ biotin‐avidin fluorescent hybridization technique. The great majority of the sorted H315‐positive cellular elements did not show a fluorescent Y body, even in samples from mothers who later delivered a male infant.While previous investigations had failed to demonstrate the in vitro uptake of H315 antigen onto the surface of leucocytes from healthy males incubated in maternal sera, the present studies demonstrate that cells from male donors could adsorb this antigen following incubation in extracts prepared from retroplacental blood.These findings thus suggest that the majority of H315‐positive nucleated cells previously detected by flow cytometry in the peripheral circulation of pregnant women are maternal cells which have adsorbed H315 antigen in vivo, either in soluble form or as small cell membrane fragments.
Prenatal diagnosis of cystic fibrosis using linked DNA probes
Authors: Schwartz M. , Super M. , Schmidtke J. , Buys C. , Farrall M. , Halley D. , Krawczak M. , Poncin J. E. , Loukopoulos D. , Devoto M. 
Published: March 2007

AbstractThis paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service.
Pseudomosaic centric fission of chromosome 4 in amniotic cells
Authors: Nucaro A. , Falchi A. M. , Monni G. , Cao A. 
Published: March 2007

AbstractThis paper describes a case of pseudomosaic centric fission of chromosome 4 detected in amniotic fluid cell culture. The pregnancy went to term and the newborn had a normal chromosomal constitution.
Prolonged elevation of alphafetoprotein and detectable acetylcholinesterase after death of an anomalous twin fetus
Authors: Streit Judy A. , Penick George D. , Williamson Roger A. , Weiner Carl P. , Benda Jo Ann 
Published: March 2007

AbstractPersistence of elevated alphafetoprotein (AFP) levels and the presence of an acetylcholinesterase (AChE) band in amniotic fluid have been reported to occur up to 11 weeks following intrauterine fetal demise (IUFD) of one twin (Bass et al., 1986). We now report a case where such prolongation of these findings was observed in a case of unrecognized monochorionic, monoamniotic twinning, in which case cord entanglement resulted in IUFD at an estimated 10–12 weeks and 25–26 weeks. The fetus suffering early demise (Fetus B) had multiple congenital anomalies, including a neural tube defect. The presence of this defect and/or fetal demise and bleeding into the amniotic sac is entertained as continuing sources of documented elevated AChE and AFP 9–11 weeks after the initial fetal death.We re‐emphasize the possibility of unrecognized twinning as a cause of abnormal maternal serum and amniotic fluid study results in the face of one apparently normal fetus.
Prenatal diagnosis of haemoglobinopathies by ion exchange hplc of haemoglobins
Authors: Rouyer‐Fessard P. , Plassa F. , Blouquit Y. , Vidaud M. , Varnavides L. , Mibashan R. S. , Bellingham A. , Beuzard Y. 
Published: March 2007

AbstractA new method, the cation exchange HPLC of haemoglobins, has been compared to the classical carboxymethyl cellulose (CMC) chromatography of globin chains for the prenatal diagnosis of beta thalassaemia and sickle cell disease. The two methods correlated highly. The HPLC procedure can use two independent and reliable means—optical density at 405 nm and radioactivity to determine the adult Hb/HbF + Fac ratio. The diagnosis is obtained in 15 mm by cation exchange HPLC.
Triploid fetus: An important consideration in the evaluation of very high maternal serum alpha‐fetoprotein
Authors: Kazazian Lillian C. , Baramki Theodore A. , Thomas Ronald L. 
Published: March 2007

AbstractTwo patients referred for evaluation of very high maternal serum alpha‐fetoprotein (10–20 multiples of the median) were carrying triploid fetuses with placentas showing features of partial hydatidiform mole. The diagnosis of fetal triploidy should be considered when there is a very high maternal serum alpha‐fetoprotein and no ultrasound evidence of open neural tube defect, ventral wall defect, or any other explanation. Therefore, chromosomal analysis of amniotic fluid cells in such cases is essential.
Fetal limb constriction: A possible complication of CVS
Authors: Christiaens G. C. M. L. , van Baarlen J. , Huber J. , Leschot N. J. 
Published: March 2007

AbstractA case of fetal loss due to infection after first‐trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling.
Gelatin embedding and diagnostic ultrasound in the examination of the fetal and neonatal brain
Authors: Knowles S. , Parker S. , Weckert R. C. , Furness M. E. 
Published: March 2007

AbstractWe describe a new method for the post‐mortem examination of the fetal central nervous system. The brain is immobilized in gelatin prior to ultrasonic examination. Correlation with prenatal ultrasound is excellent and subsequent pathological examination is enhanced and facilitated.
Ethical problems in prenatal diagnosis: A cross‐cultural survey of medical geneticists in 18 nations
Authors: Wertz Dorothy C. , Fletcher John C. 
Published: March 2007

AbstractIn order to provide a basis for international discussion of ethics among geneticists, we surveyed the responses of medical geneticists to a questionnaire describing 14 hypothetical cases that posed ethical dilemmas. The cases were selected through discussions with leading geneticists in 12 nations, as representative of the most difficult problems of moral choice experienced in practice. Six cases involved indications for prenatal diagnosis or disclosure of information. All medical geneticists in each of 18 nations were included. Of 1053 asked to participate, 677 (64 per cent) responded. A large majority (83 per cent) would perform prenatal diagnosis for parents who oppose abortion but request the service. A smaller majority (63 per cent) would do so for maternal anxiety, and a minority (25 per cent) would perform for sex selection in the absence of X‐linked disease. Most would disclose conflicting controversial, or ambiguous test results, and two‐thirds would disclose colleagues' differences of opinion.
First‐trimester diagnosis of menkes disease: Intermediate copper values in chorionic villi from three affected male fetuses
Authors: Tønnesen T. , Gerdes A.‐M. , Damsgaard E. , Miny P. , Holzgreve W. , Søndergaard F. , Horn N. 
Published: March 2007

AbstractChorionic villus samples with copper contents of 1·91, 4·2, 5·6, and 6·3 ng/mg were observed in four cases with male karyotypes. These values were outside the range for unaffected males (0·30–0·85 ng/mg), and three of them were outside the control range (0·20–2·39 ng/mg). But these three values were below the values previously observed for affected Menkes fetuses (12·0–24·8 ng/mg).Follow‐up by 64Cu uptake studies on the amniotic fluid cells was performed in three of these cases. A combination of 64Cu uptake and chase experiments on the amniotic fluid cells showed more convincingly than 64Cu uptake per se the direct copper values of 4·2 and 5·6 ng/mg to correspond to affected fetuses. Amniotic fluid cells from the male fetus with the CV copper value of 1·9 ng/mg showed normal results. The CV copper value of 6·3 ng/mg was considered pathognomonic for Menkes disease. The pregnancy was terminated, and the diagnosis was confirmed on fetal fibroblasts.Maternal deciduum prepared from the placentae showed in one of the cases with an affected fetus copper values ranging from 1·5 to 5·7 ng/mg. In six additional diagnostic cases, the copper content was determined in both CV samples and maternal deciduum. In three of these cases with normal CV sample copper, maternal decidua values of 4·85–7·8 ng/mg copper were observed. These results show that maternal deciduum contamination of a CV sample could cause a false‐positive diagnosis.
Amniotic fluid acetylcholinesterase measurements: Comparing immunochemical and polyacrylamide gel techniques
Authors: Goldfine Christina , Knight George J. , Haddow James E. , Palomaki Glenn E. 
Published: March 2007

AbstractIn the present study, a recently reported immunochemical technique for measuring acetylcholinesterase (AChE) in amniotic fluid utilizing the 4F19 antibody was compared with the widely utilized polyacrylamide gel technique to determine whether the immunochemical assay provided an advantage in separating unaffected pregnancies from those associated with open spina bifida (OSB) and open ventral wall defects (OVWD). The study included (1) 73 amniotic fluid samples from unaffected pregnancies [alpha‐fetoprotein (AFP) < 2 MoM] with no visible gel AChE band, (2) nine bloodstained samples from unaffected pregnancies (AFP 2·2–4·0 MoM) with visible gel AChE bands, (3) 18 samples associated with OSB (AFP 2·2–7·0 MoM) with visible gel AChE bands, and (4) 20 samples associated with OVWD (AFP 3·2–53·5 MoM) with visible gel AChE bands. The immunochemical assay produced ranges of measurements in the four respective categories as follows: (1) 2–60 arbitrary units (AU): (2) 14–69 AU, (3) 61–593 AU, and (4)22–476 AU. Eight of the nine unaffected pregnancies with visible gel AChE bands had immunochemical measurements below the highest measurement for the samples with no visible AChE band (60 AU), as did five out of 20 OVWD pregnancies. Two of the OSB cases had values of 61 and 62 AU. These data indicate that the 4F19 specific monoclonal antibody to AChE is capable of distinguishing unaffected from affected pregnancies with reasonable reliability but that more work needs to be done to establish the extent of overlap between the unaffected and affected populations.
First‐trimester amniotic fluid acetylcholinesterase electrophoresis
Authors: Muller F. , Oury J. F. , Boue A. 
Published: March 2007

AbstractAcetylcholinesterase (AChE) gel electrophoresis was performed on normal amniotic fluids obtained at 4–15 weeks of pregnancy. Until 8 weeks, all the fluids were AChE‐positive; the percentage of positive specimens decreased from 9 until 11 weeks and no positive specimen was found after 12 weeks. This method may allow early prenatal dignosis of neural tube defects after the 12th week.
In vitro amplification of the α1‐antitrypsin gene: Application to prenatal diagnosis
Authors: Hejtmancik J. F. , Holcomb J. D. , Howard J. , Vanderford M. 
Published: March 2007

AbstractDiscrimination of the M, Z, and S alleles of α1‐antritrypsin (AAT) has been carried out using in vitro gene amplification with the polymerase chain reaction (PCR). Amplification of 90 nucleotides surrounding the Z mutation site and 120 nucleotides surrounding the S mutation site dramatically improves the sensitivity and reliability of allele‐specific oligonucleotide (ASO) hybridization for direct detection of these alleles. Analysis is performed using Southern blots or dot blots hybridized with 19 base oligonucleotides and differentially washed for allele specificity. Amplification of the Z and S mutation sites can be combined in one PCR to allow detection of both mutations when analysed by gel electrophoresis and Southern transfer. This technique can be performed reliably using less than 0·1 μg of genomic DNA or less than 100 amniocytes or white blood cells. This technique has been used to perform prenatal diagnosis on a chorionic villus sample (CVS) in a fetus at risk for the ZZ Pi type form of AAT deficiency.
Visualization of fetal intra‐abdominal organs in second‐trimester severe oligohydramnios by intraperitoneal infusion
Authors: Nicolini Umberto , Santolaya Joaquin , Hubinont Corinne , Fisk Nicholas , Maxwell Darryl , Rodeck Charles 
Published: March 2007

AbstractFetal intraperitoneal infusion of saline was performed in two patients with severe oligohydramnios at 24 and 25 weeks' gestation in order to enhance visualization of intra‐abdominal organs. Renal agenesis was easily diagnosed. The technique can be considered as an alternative to artificial instillation of amniotic fluid in the differential diagnosis of conditions associated with severe oligohydramnios.
A prospective study of the incidence and significance of fetal choroid plexus cysts
Authors: Ostlere S. J. , Irving H. C. , Lilford R. J. 
Published: March 2007

AbstractCysts of the choroid plexus of the lateral ventricle can be detected in the fetus during routine scanning at 16–18 weeks' gestation with an approximate incident of one in every 120 pregnancies. It is likely that in a high percentage of cases cysts are bilateral and that their recent discovery is mainly due to improvements in imaging technology. Although the great majority of cases resolve and do not result in any morbidity, five cases of trisomy 18 and one case of trisomy 21 associated with fetal choroid plexus cysts have been reported. In this prospective study, choroid plexus cysts were detected in 42 fetuses, resulting in 40 normal infants and 2 cases of trisomy 18. It is concluded that there may be a relationship between fetal choroid plexus cysts and trisomy 18. In order to obtain a more precise and accurate result, a multi‐centre prospective study is being organized.
Chorionic villus sampling—short‐term versus long‐term culture in a subtle 2; 18 translocation
Authors: Smith A. , Cohen M. , den Dulk G. , Guirguis A. 
Published: March 2007

AbstractPrenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long‐term culture.
The dilemma of chromosomal mosaicism in chorionic villus sampling—‘direct’ versus long‐term cultures
Authors: Nisani R. , Chemke J. , Voss R. , Appelman Z. , Caspi B. , Lewin A. , Dar H. , Reiter A. 
Published: March 2007

AbstractChromosomal mosaicism is one of several unanswered dilemmas in first‐trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long‐term CVS culture, and low‐rate trisomy 21 mosaicism in a second long‐term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low‐rate mosaicism in different tissues may be indicative of the true status of the fetus.
Intrauterine manometry: Technique and application to fetal pathology
Authors: Nicolini Umberto , Fisk Nicholas M. , Talbert David G. , Rodeck Charles H. , Kochenour Neil K. , Greco Pantaleo , Hubinont Corinne , Santolaya Joaquin 
Published: March 2007

AbstractA technique is described for measuring pressure within the amniotic cavity and within fetal vessels and/or body compartments. Two saline‐filled catheters were connected at one end to needles inserted during indicated invasive procedures and at the other to silicon strain gauge transducers. In 36 pregnancies with normal liquor volume, stable intra‐amniotic pressure (IAP, range 1–14 mmHg) increased with gestation (r=0·48, p<0·01). In pregnancies complicated by severe oligohydramnios, IAP was ≤ 1 mm Hg and rose to normal levels with saline amnioinfusion. Raised IAP (range 17–26 mm Hg), found in pregnancies with gross polyhydramnios, fell with drainage of amniotic fluid. Subtraction manometry was used to determine supra‐amniotic pressure within the intervillus space, umbilical vein, umbilical artery, abdominal and thoracic cavities, and the urinary tract in normal and/or pathological fetuses. Low intravesical and intrapelvicalyceal pressures (median 6·5, range 2–10 mmHg) were noted in fetuses with obstructive uropathies. Intrauterine subtraction manometry appears to be a useful tool in the understanding of fetal pathophysiology and may be of clinical benefit in the therapeutic drainage and infusion of amniotic fluid and in the assessment of certain fetal disease states.
First‐trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi
Authors: Conradi N. G. , Uvebrant P. , Hökegård K.‐H. , Wahlström J. , Mellqvist L. 
Published: March 2007

AbstractOne of the most common hereditary, progressive encephalopathies in children—juvenile neuronal ceroid lipofuscinosis (NCL)—lacks methods for carrier detection and prenatal diagnosis. A transcervical chorionic villus biopsy was performed at 9 completed weeks in a fetus at high risk of this disease. The syncytiotrophoblast of the chorionic villi contained fingerprint inclusions similar to those observed in various cells from children with this disease. Together with previous reports of second‐trimester diagnosis in a case with late‐infantile NCL (MacLeod et al., 1984, 1985), the presence of typical inclusions in placental tissue sampled at term in the infantile NCL (Rapola et al., 1987) and the lack of pathological alterations in one fetus at high risk of juvenile NCL and without clinical and morphological signs of disease at the age of 15 months (Kohlschutter et al., 1989), our findings strongly indicate that an early prenatal diagnosis of (juvenile) NCL is possible.
Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: An interim report
Authors: Kohlschütter A. , Rauskolb R. , Goebel H. H. , Anton‐Lamprecht I. , Albrecht R. , Klein H. 
Published: March 2007

AbstractIn a family with two children affected by juvenile neuronal ceroid lipofuscinosis (JNCL) an attempt was made at the prenatal diagnosis of the disorder. The following tissues from the fetus at risk were investigated by electron microscopy and were found to be free of fingerprint profiles and curvilinear bodies, typical for JNCL: uncultivated amniotic fluid cells, lymphocytes isolated from fetal blood, and fetal skin biopsy specimens. The child was born at the 34th week of gestation and was clinically normal at the age of 15 months. Postnatally, lymphocytes (isolated at the age of 6 and 15 months) and skin tissue (taken at the age of 15 months) were found to be morphologically normal.It is highly unlikely that the child is affected but definite proof of the absence of JNCL remains difficult at this age.
Chorionic villus culture for prenatal diagnosis of chromosome defects: Reduction of the long‐term cultivation time
Authors: Smidt‐Jensen Steen , Christensen Britta , Lind Anne‐Marie 
Published: March 2007

AbstractWe report in detail two series of chorionic villus cultivation for prenatal chromosomal diagnosis. Chorionic villi were sampled from both first‐ and second‐trimester pregnancies. One hundred cultures were treated with trypsin–EDTA for 2 h and collagenase overnight, (method A) and 100 were treated with trypsin–EDTA for 1 h and collagenase for 2 h (method B). Using short‐term enzymatic digestion, the cultivation time was reduced from 14 days to 6 days. Sufficient amounts of metaphases of good quality were present in 93 per cent of primary cultures harvested in situ, whereas enough metaphases of sufficiently good quality were in most cases present only after subcultivation of the cultures using method A. The decrease in cultivation time obtained is probably due to a higher yield of viable cells in monocellular suspension, an increased attachment efficiency, and a more rapid attachment of single cells (within 24 h).
Conceiving a fetus for bone marrow donation: An ethical problem in prenatal diagnosis
Authors: Clark Robin Dawn , Fletcher John , Petersen Gloria 
Published: March 2007

AbstractWe present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA–identical bone marrow donor for their son affected with Wiskott–Aldrich syndrome. They intended to abort HLA‐incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that prenatal diagnosis should not be used to benefit a third party or facilitate the conception or abortion of a fetus for the purpose of generating an organ for transplantation. The limits of parental autonomy and physician responsibility are discussed.
Prenatal ascertainment of triploidy by maternal serum alpha‐fetoprotein screening
Authors: Freeman S. B. , Priest J. H. , Macmahon W. C. , Fernhoff P. M. , Elsas L. J. 
Published: March 2007

AbstractWe report our experience in ascertaining fetal triploidy during routine maternal serum alpha‐fetoprotein (MSAFP) screening. Three cases were identified after elevated MSAFP tests. Two of the three had normal amniotic fluid alpha‐fetoprotein (AFAFP). The third had amniocentesis too late for AFAFP interpretation. Three additional cases were detected by amniocentesis without prior MSAFP screening and none had an elevated AFAFP. A literature review revealed eight triploid fetuses detected as a result of an elevated MSAFP. Of the five with AFAFP quantitation, only one had an abnormal value and the elevation was minimal. In these 14 cases from our own and other reports, ultrasound findings of placental and fetal abnormalities were often noted, but a pattern diagnostic of triploidy was not present. We conclude that, for optimal prenatal detection of triploidy, fetal karyotyping should be included when an amniocentesis is performed for elevated MSAFP.
First‐trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: Report of eight cases
Authors: Gasparini Paolo , Novelli Giuseppe , Savoia Anna , Dallapiccola Bruno , Pignatti Pier Franco 
Published: March 2007

AbstractEight pregnancies at risk for cystic fibrosis have been monitored by first‐trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM 19. In two cases, the region detected by CS·7, another DNA probe tightly linked to the CF locus, was also examined. The results of the PCR determinations were confirmed using the Southern blotting procedure, by segregation analysis of restriction fragment length polymorphisms (RFLPs) relative to XV‐2c, J3·11, metH, metD, and KM19 probes.
Prenatal diagnosis of pelvic kidney
Authors: Colley N. , Hooker J. G. 
Published: March 2007

AbstractA 30‐year‐old woman had serial ultrasound scans from 28 weeks' gestation which revealed the presence of a cystic area in the fetal pelvis. The ‘cyst’ remained unchanged until delivery at 41 weeks. Fetal growth and amniotic fluid volume were normal throughout. A pelvic kidney was confirmed at birth. The differential diagnosis and antenatal management of this ‘cyst’ are discussed.