bluuebunny/crossref_metadata_2025_split huggingface dataset:
Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy
Authors: Simoni G. , Tibiletti M. G. , Dalprà L. , Ferrari M. , Brambati B. 
Published: March 2007

AbstractA routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA‐stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin‐chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.
Pregnancy‐associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome
Authors: Westergaard J. G. , Chemnitz J. , Teisner B. , Poulsen H. K. , Ipsen L. , Beck Bente , Grudzinskas J. G. 
Published: March 2007

AbstractThe concentration of human placental lactogen (hPL), pregnancy specific beta‐1 glycoprotein (SP‐1) and pregnancy‐associated plasma protein A (PAPP‐A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. HPL and SP‐1 were present in normal concentrations from week 20 to week 35 of gestation whereas PAPP‐A could not be detected in any of the samples examined. Immunohisto‐chemical examination of two placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP‐1 but the absence of PAPP‐A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP‐A is discussed.
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase a activity in chorion and cultured amniotic fluid cells
Authors: Tsvetkova I. V. , Zolotukhina T. V. , Bakharev V. A. , Rosenfeld E. L. , Rosovsky I. S. 
Published: March 2007

AbstractChorion biopsy specimens were used for prenatal assay of arylsulphatase A activity in a pregnant woman whose two children had died from metachromatic leukodystrophy (MLD). As in two subsequent pregnancies chorion arylsulphatase A was in the control range, it was concluded that both fetuses were healthy. Absence of MLD in the fetus from the first pregnancy was confirmed after assay of arylsuphatase A activity in fetal organs. The second pregnancy resulted in delivery of a healthy child.
Alkaline phosphatase activity in amniotic fluid in pregnancies with fetal disorders
Authors: Jalanko Hannu , Heikinheimo Markku , Ryynänen Markku , Ranta Tapio , Aula Perth 
Published: March 2007

AbstractAlkaline phosphatase (ALP) activity was determined in 255 amniotic fluid samples collected by amniocentesis between 15 and 39 weeks of gestation. The samples were originally used for chromosomal analysis and/or alpha‐fetoprotein measurements. The mean ALP activity in early amniotic fluid from pregnancies with fetal trisomy 18 and 21 syndromes was half of that found in the controls. Highly elevated ALP activity (over 10 times the median level) was found in 14 samples. Two of these pregnancies had normal outcome. Three samples were from pregnancies with intrauterine fetal death. Fetal disorders, including abdominal wall defect (four cases), Meckel's syndrome (two), hydrops fetalis syndrome (two) and genital anomaly (one), were observed in nine cases. Moderately elevated ALP activity (over three times the median) was found in 10 cases, including five pregnancies with a preterm labour shortly after the sample collection. The results indicate that elevated ALP activity in the third trimester amniotic fluid is often associated with fetal disorders.
Prenatal diagnosis of a double heterozygote for two reciprocal translocations of familial origin
Authors: Mulcahy Marie T. , Watson Marcia 
Published: March 2007

AbstractTwo balanced reciprocal translocations were found in an amniotic fluid cell culture undertaken because of maternal age. One translocation had been inherited from each parent. Both translocations were traced through three generations of each family. The importance of banding techniques in diagnostic cytogenetics is stressed.
Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium
Authors: Nielsen Lise Bjerglund , Nielsen Karen Brøndum , Tommerup Niels 
Published: March 2007

AbstractChromosome analysis in a boy aged 10 months, with psychomotor retardation, revealed the fragile X‐chromosome in lymphocytes and skin fibroblasts cultured in low folate medium (TC 199). Amniocentesis and chromosomal analysis had been carried out during pregnancy because of advanced maternal age. Review of the slides from amniotic fluid cells grown routinely in low folate medium showed the marker X in 10.6 per cent of the metaphases. Possible explanations for the appearance of the marker X in amniotic cell culture are discussed.
Prenatal diagnosis of thalassaemia by haemoglobin chromatography on biorex an evaluation of the method
Authors: Dash Sumitra , Panourgias John , Karababa Photini , Loukopoulos Dimitris 
Published: March 2007

AbstractThe applicability of the chromatographic separation of haemoglobins F, A and S on Biorex 70 (Blouquit et al., 1982) for the prenatal diagnosis of thalassaemia and related conditions was evaluated in comparison to the conventional globin chain separation technique. The method proved reliable, inexpensive and rapid and should be considered as a valuable alternative in laboratories carrying out great numbers of tests and those being newly set up for this purpose.
Errors in plasma creatine kinase estimations on fetal blood samples resulting from contamination with amniotic fluid and maternal blood: Relevance for the prenatal diagnosis of duchenne muscular dystrophy
Authors: Edwards R. J. , Rodeck C. H. , Watts D. C. 
Published: March 2007

AbstractThis paper presents a detailed analysis of the calculation of fetal plasma CK activity in fetal blood samples contaminated with amniotic fluid and maternal blood. The seemingly simple formula for this calculation, first presented by Mahoney et al. (1977), is actually more complex than it appears; values for up to nine variables, two of which can only be assumed, are needed. Small variations in certain variables may result in very large errors in the final calculated value of fetal plasma CK activity. Examples of diluted blood samples are considered and the effects of allowing for reasonable errors in the variables is explored. The main source of error is in the measurement of CK activities in the diluted blood sample and in the amniotic fluid. Contamination by blood originating from the maternal circulation can also be a large source of error, especially if the mother is a carrier of DMD and maintains a high level of plasma CK activity during pregnancy. Fetal blood indices have to be assumed; these may be a source of significant error, depending on the difference between the actual and assumed values.The measurement of fetal plasma CK activity by the indirect calculation method is discussed in the context of the prenatal diagnosis of DMD.
Experiences with unexpected structural chromosome aberrations in prenatal diagnosis in a danish series
Authors: Vejerslev Lars O. , Friedrich Ursula 
Published: March 2007

AbstractThe investigation of 5547 prenatal diagnoses showed 31 unexpected structural chromosome rearrangements. These included 3 Robertsonian translocations, 14 reciprocal translocations and 14 inversions. A11 were balanced, including 5 de novo rearrangements. In 3 of these cases an induced abortion was performed and in 2 cases children without detectable malformations were delivered.
Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy
Authors: Kassam Gulzar , Chen Andrew T. L. , Goldberg Marshall F. , Trusler Suzanne , Oakley Godfrey P. 
Published: March 2007

AbstractAlthough prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.
Mitomycin C induced chromosome damage in fetal blood cultures and prenatal diagnosis of fanconi's anaemia
Authors: Shipley J. , Rodeck C. H. , Garrett C. , Galbraith J. , Giannelli F. 
Published: March 2007

AbstractWe report the use of fetal blood for the prenatal diagnosis of Fanconi anaemia (FA). The clastogenic action of Mitomycin C (MMC) is compared in blood cultures from different fetuses, normal controls and FA heterozygotes. The fetus at risk is shown to suffer from FA on the grounds of excessive chromosome breakage, both spontaneous and MMC induced.
Genetic amniocentesis in multiple gestations
Authors: Filkins Karen , Russo Joseph , Brown Thomas , Schmerler Susan , Searle Bernard 
Published: March 2007

AbstractThirty‐one genetic amniocenteses involving multiple gestations were performed in the genetics unit between 1976 and 1982. Three sets of triplets were included. Precise locations of the sacs were determined using real‐time ultrasonography and successful sampling of all sacs was accomplished. Spontaneous abortions occurred in two normal twins and one normal triplet gestation. Two therapeutic abortions were performed for fetal abnormalities. Two cases of discordance for trisomy 21 (one twin and one triplet) were allowed to continue; the twin case terminated at 25 weeks' gestation with neonatal deaths and the triplets are alive and well.
Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome
Authors: Seoud Muhieddine , Santos‐Ramos Rigoberto , Friedman J. M. 
Published: March 2007

AbstractRoutine sonography prior to genetic amniocentesis revealed the presence of a large complex mass with pulsating channels over the anterior fetal chest wall. This led to early termination of pregnancy in a fetus affected with the rare Klippel‐Trenaunay‐Weber Syndrome.
Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester
Authors: Ghosh A. , Woo J. S. K. , Wan C. W. , Wong V. C. W. 
Published: March 2007

AbstractOsteogenesis imperfecta (OI) Type II was diagnosed accurately in an at‐risk fetus at 16 weeks gestation by real‐time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provide direct evidence in the diagnosis of OI Type II and any additional investigations are not indicated.
Parental response to mid‐trimester therapeutic abortion following amniocentesis
Authors: Jones O. W. , Penn Nolan E. , Shuchter Stephen , Stafford Claire A. , Richards Teri , Kernahan Colleen , Gutierrez Jennifer , Cherkin Patricia , Reinsch Sylvia , Dixson Barbara 
Published: March 2007

AbstractThis article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long‐term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.
Prenatal diagnosis of a 46,XX/47,XX, +12 mosaic
Authors: Jensen Peter K. A. , Hahnemann N. , Rehder H. , Schwinger E. , Friedrich U. 
Published: March 2007

AbstractA case of true mosaicism 46,XX/47,XX,+ 12 was diagnosed prenatally. The pregnancy was terminated in the 21st week of gestation and the aberrant cell line was rediscovered in cultured fetal tissue. However, a detailed examination of the fetus did not disclose any significant physical malformation.
A prospective study of amniotic fluid cholinesterases: Comparison of quantitative and qualitative methods for the detection of open neural tube defects
Authors: Wyvill P. Carol , Hullin D. A. , Elder G. H. , Laurence K. M. 
Published: March 2007

AbstractThe value of quantitative and qualitative methods of cholinesterase (ChE) analysis in the detection of open neural tube defect (NTD) has been assessed in a prospective survey of 1495 mid‐trimester amniotic fluids.Using a quantitative method the mean ChE values were much lower in fluids from pregnancies of normal outcome but it was not possible to discriminate these fluids completely from those associated with NTD pregnancies. particularly when the specimens were contaminated with blood. Similarly, measurement of acetylcholinesterase (AChE) activity alone by three different methods also failed to eliminate the overlap between the two groups.In contrast, polyacrylamide gel electrophoresis revealed only a single band of ChE activity in 1408 out of 1410 fluids from pregnancies with a normal outcome whilst amniotic fluids from all 60 cases of open NTD. 6 out of 7 cases of exomphalos and 3 out of 4 cases of intra‐uterine death gave the characteristic second faster‐running AChE band.A qualitative gel method which requires the same amount of ChE activity to be loaded from each amniotic fluid is an effective method for pre‐natal diagnosis of NTDs.
Psychological reactions to fetoscopy: A controlled study
Authors: Fava Giovanni A. , Michelacci Laura , Trombini Giancarlo , Bovicelli Luciano , Orlandi Camillo 
Published: March 2007

AbstractTwenty woman at risk of carrying a fetus with homozygous beta‐thalassemia who underwent fetoscopy and a matched control group of pregnant women were administered the Symptom Questionnaire to evaluate changes in distress. Women who were offered fetoscopy had significantly more anxiety, depression, somatic symptoms and hostility than the control group. Psychological distress significantly decreased after the results of fetoscopy were communicated to the patient, and the decrease was similar in normal control women. Five other patients had a diagnosis of homozygous beta‐thalassaemia and their pregnancies were terminated. Their psychological distress increased when they learned the outcome of fetoscopy, but decreased again after termination. Psychological reactions to fetoscopy and amniocentesis appear to be similar, yet women who undergo fetoscopy suffer from more psychological distress.
Glial fibrillary acidic protein in amniotic fluids from pregnancies with fetal neural tube defects
Authors: Albrechtsen Merete , Bock Elisabeth , Nørgaard‐Pedersen Bent 
Published: March 2007

AbstractThe glial fibrillary acidic protein (GFAP) is the subunit protein of intermediate filaments in astrocytes and closely related cell types. By means of an enzyme immunoassay we have determined the concentration of GFAP in amniotic fluids from normal pregnancies and from pregnancies complicated by various fetal malformations.The group of 20 cases of fetal anencephaly had a significantly higher mean amniotic fluid GFAP concentration (115 μg/1±133.6 (S.D.), range 6–378 μg/1) than the control group of 117 normal pregnancies (13 μg/1k±5.5 (S.D.), range 0–31 μg/1), (P<0.001). Two cases of fetal encephalocele likewise had very high amniotic fluid GFAP concentrations. None of the other cases of fetal malformations investigated, including 12 cases of spina bifida, had increased amniotic fluid GFAP concentrations.We conclude that determination of the amniotic fluid GFAP concentration may give additional information in the prenatal diagnosis of fetal nervous system malformations.
Trisomy 20 mosaicism
Authors: Miny P. , Pawlowitzki I.‐H. 
Published: March 2007

AbstractA further case of trisomy 20 mosaicism found at amniocentesis is presented. Pregnancy was terminated, the fetus showed facial dysmorphia and minor cardial and renal anomalies. 19 published reports of true trisomy 20 mosaicism at amniocentesis are reviewed. Five pregnancies resulted in obviously normal newborns. The significance of mostly minor anomalies found at autopsy of 7 fetuses remains unclear. With regard to genetic counselling the significance of trisomy 20 mosaicism is summarized as follows: (1) true trisomy 20 mosaicism in amniotic fluid cells reflects mosaicism of the fetus; (2) severe malformation is not a major feature of trisomy 20 mosaicism; (3) the risk of mental retardation is still undetermined, due to limited experience. However, there is no definite proof that the condition is harmful at all.
Prenatal diagnosis of cystic fibrosis using a monoclonal antibody specific for intestinal alkaline phosphatase
Authors: Brock David J. H. , Barron Lilias , Bedgood David , Van Heyningen Veronica 
Published: March 2007

AbstractA monoclonal antibody (AAP‐1), specific for the intestinal isoenzyme of alkaline phosphatase (ALP), has been used to develop an immunoassay for amniotic fluid samples. Values in the immunoassay correlated closely with those obtained by direct determination of phenylalanine‐inhibitable ALP.A panel of 124 control second‐trimester amniotic fluids and 21 fluids with a 1 in 4 risk of a cystic fibrosis fetus were examined in the immunoassay. Eight of 10 affected cases had values below an arbitrary cut‐off of one third median, while all the non‐affected cases were above this level. Almost identical results were obtained by enzymatic determination of phenylalanine‐inhibitable ALP. However, in both systems the false positive rate (control fluids with values below one third median), was unacceptably high.It is pointed out that at present the most effective system for the prenatal diagnosis of cystic fibrosis is achieved by measuring the ratio of intestinal to total ALP in amniotic fluid supernatants. This is probably best effected by enzymatic assay in the presence of phenylalanine and homoarginine inhibition.
Amniotic band disruption syndrome associated with elevated amniotic AFP and normal acetylcholinesterase gel test
Authors: Aitken D. A. , May H. M. , Ferguson‐Smith M. A. , Howat R. , Kohler H. G. 
Published: March 2007

AbstractUltrasonography in an 18 week pregnancy selected for detailed scanning because of a single elevated maternal serum AFP result suggested the presence of anencephaly. Amniocentesis at 19 weeks yielded a clear AF with an elevated AFP result (5.4 MOM) and no evidence of an acetylcholinesterase band of neural origin on PAG electrophoresis. At termination, the fetus had cephalo‐amniotic fusion and multiple abnormalities including bilateral cleft lip and palate and digital amputations characteristic of the amniotic band syndrome. The cranial defect was completely sealed by attachment of the amniotic surface of the placenta to the skull.
A culture vessel for amniotic fluid cells allowing faster preparation of chromosome slides
Authors: Tabor Ann , Lind Anne‐Mare , Andersen Alice Milbrat , Philip John 
Published: March 2007

AbstractA new culture vessel for amniotic fluid culture is presented (flaskette). It consists of a microscope slide, on top of which a culture chamber is mounted.Amniotic fluid cell cultures using in situ technique in the flaskette were compared to subcultured samples in ordinary (Falcon) tissue culture bottles. Working time was reduced by using this new culture vessel because of a very simple harvest procedure allowing simultaneous harvest of 15 samples.The interval between amniocentesis and harvest was shorter for the in situ technique than for the subcultivation technique. The frequency of aneuploidy in individual metaphases was higher with the subcultivation technique. while there was no difference in the frequency of structural anomalies.
Pericentric inversion of the Y chromosome and prenatal diagnosis
Authors: Shapiro Lawrence R. , Pettersen Richard O. , Wilmot Patrick L. , Warburton Dorothy , Benn Peter A. , Hsu Lillian Y. F. 
Published: March 2007

AbstractPericentric inversion of the human Y chromosome has been estimated to occur with a frequency of 1–2 per thousand in various populations, and the results of this study, derived from over 12 000 prenatal diagnosis cases, is 1.15 per 1000. In these cases, it was concluded that there was no clinical significance because the fathers and male fetuses had the same pericentric inversion. Chromosome analysis of the father is advisable to determine whether or not the inversion is familial in order to be able to provide genetic counselling.
A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses
Authors: Boué A. , Gallano P. 
Published: March 2007

AbstractA collaborative study involving 71 European prenatal diagnosis centres has collected 1356 observations on the karyotype of fetal cells in diagnoses performed in couples in which a parent had a balanced structural rearrangement.The segregations of the inherited chromosome structural rearrangement were analysed in relation to the types of rearrangement, to the sex of the carrier parent, the methods of ascertainment of the anomaly in the family, the chromosomes involved and the potential imbalance of the anomaly.Wide differences in the incidence of unbalanced fetuses were observed in relation to these criteria, and these results can be used in counselling parents with balanced rearrange‐ ments. Distortions in segregation of normal versus balanced karyotypes were observed in some types of anomalies.
Outcome of cases ofde novostructural rearrangements diagnosed at amniocentesis
Authors: Warburton Dorothy 
Published: March 2007

AbstractThe frequency of de novo rearrangements at amniocentesis was determined in 76952 prenatal diagnoses from centres in the United States. Rates for balanced rearrangements are slightly greater than rates previously reported in the newborn, possibly because banding studies were not used in the latter. Rates for unbalanced rearrangements are considerably higher in the amniocentesis data not only because banding was used but also because a substantial loss of abnormal conceptions is to be expected between amniocentesis and birth. The higher frequency of cases with supernumerary markers at amniocentesis is unexplained.A review of 66 apparently balancedde novorearrangements found at amniocentesis revealed evidence of abnormality in five; in four of these the abnormality was noted in the abortus. The number of cases observed is still too small to rule out a risk of abnormality no greater than the usual rate of abnormalities at birth. Abnormalities were detected in 6 of 10 cases with unbalancedde novorearrangements.In 33 cases of non‐familial supernumerary chromosomes 6 (18.2 per cent) showed abnormality. Non‐satellited markers appeared to have a higher rate of abnormality than satellited markers but the difference is not statistically significant.Further studies and improved follow‐up ofde NOVOcases diagnosed at amniocentesis are required.