bluuebunny/crossref_metadata_2025_split huggingface dataset:
Risks of transabdominal chorionic villus sampling before the 12th week of amenorrhea
Authors: Saura R. , Longy M. , Horovitz J. , Grison O. , Vergnaud A. , Taine L. , Maugey B. 
Published: March 2007

AbstractThe authors report on a series of 210 chorion villus sampling diagnoses made with a needle by the transabdominal route. The rate of fetal loss was 4·2 per cent. Placental localization was important: fetal losses were 8 per cent when the placenta was strictly posterior (transamniotic route), whereas it was only 1·6 per cent when it was not posterior. Moreover, all fetal losses occurred (apart from one at 12·5 weeks of amenorrhea) before the 12th week of amenorrhea. The authors suggest that choriocentesis by the transabdominal route should not be performed before the 12th week of amenorrhea, and that the amniotic membrane should not be disturbed before the 13th week of amenorrhea.
Successful intrauterine therapy of a large fetal ovarian cyst
Authors: Giorlandino C. , Rivosecchi M. , Bilancioni E. , Bagolan P. , Zaccara A. , Taramanni C. , Vizzone A. 
Published: March 2007

AbstractFetal ovarian cysts can be managed in different ways, depending upon their size and clinical course: conservatively, by open surgery or by postnatal transabdominal puncture.However, in cases of large cysts detected antenatally and affecting the ongoing pregnancy, in utero transabdominal puncture can be undertaken, without increase of risk.A case of such a puncture at 30 weeks gestation is reported.
Congenital hereditary hypothyroidism—prenatal diagnosis and treatment
Authors: Hirsch Michael , Josefsberg Zev , Schoenfeld Alexander , Pertzelan Athaliah , Merlob Paul , Leiba Sara , Kohn Gertrude , Ovadia Jardena , Lubin Ernesto , Laron Zvi 
Published: March 2007

AbstractIntrauterine diagnosis of congenital hypothyroidism was established on the basis of TSH concentration in amniotic fluid in the 22nd week of gestation for the offspring of a couple both known to have an iodide organification defect. Prenatal treatment consisted of intramniotic injections of 500 meg Na‐1‐thyroxine, which was administered from the first amniocentesis until one week before delivery. Following delivery, the diagnosis was confirmed by the elevated level of TSH, 60‐5 uU/ml, and a gradual decrease of fT4 to 0·8 ng/ml. Regular substitution therapy was commenced on the third day of life. The normal shape and location of the thyroid gland was demonstrated by Technetium scintiscan. At 18 months the infant revealed no significant deviation from normalcy in growth or mental capacity. This experience indicates that testing of amniotic fluid for TSH in the 22nd week of gestation can be diagnostic for congenital primary hypothyroidism. Furthermore, it is suggested that the treatment approach described is warranted in all cases in which there is a high risk of congenital primary hypothyroidism.
Patient care before and after termination of pregnancy for neural tube defects
Authors: Mourik M. C. A. White‐Van , Connor J. M. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractA retrospective study was designed to examine the perception of care in women who had experienced a second‐trimester termination of pregnancy (TOP) for a neural tube defect. Women were identified over a 3‐year period, 1983–1985. After appropriate consent, 166 women were visited at home between 4 weeks and 7 months post‐TOP and interviewed by one experienced interviewer using a structured questionnaire with open and closed questions.The majority (137, 82 per cent) felt satisfied with the care received during screening, prenatal diagnosis, and during the TOP (126, 76 per cent). Patients were less satisfied (63, 38 per cent) with post‐TOP care in hospital. On leaving hospital, the post‐termination sequelae were mentioned to only 25 (15 per cent) patients, which left 135 (81 per cent) confused and bewildered by the post‐partum reactions of their bodies, and by their strong emotions.After‐care was perceived as unsatisfactory by 113 (68 per cent). One‐quarter (42, 25 per cent) did not have, and were not invited for, a post‐termination appointment and thus did not have an opportunity to ask questions or to discuss the fetus. Eighty‐six (51‐8 per cent) had no visit from any member of the primary health‐care team, yet most would have appreciated such a visit. Suggestions for improved management are presented.
Sensitivity of chromosomal mosaicism detection by different tissue culture methods
Authors: Richkind K. E. , Risch N. J. 
Published: March 2007

AbstractIn the field of prenatal cytogenetic diagnosis, two tissue culture methodologies are currently in use: the flask method, which examines mixed populations of cells, and the in situ method, which examines distinct colonies of cells. These two methods provide inherently different levels of sensitivity which can be made comparable by adjusting the number of cells examined depending on the methodology used and the number of colonies formed per ml of specimen. Assuming that there are 2 colonies per ml of amniotic fluid in a 20 ml specimen, in order to detect 10, 20, and 30 per cent mosaicism with 95 per cent confidence, 29, 14, and 9 colonies should be examined respectively by the in situ method. Similarly, 50, 17, and 10 cells must be analysed by the flask method.
Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; trisomy 16; and trisomy 18
Authors: Kennerknecht I. , Terinde R. 
Published: March 2007

AbstractCytogenetic analysis in three pregnancies revealed chromosomal mosaicism confined to chorionic villi. They were ascertained in the third trimester by intrauterine growth retardation (IUGR) in otherwise normal fetuses. In case of triple trisomy 6,21,22 and trisomy 16, it was obvious that these findings were most likely restricted to the placenta. These trisomies act as early lethal factors when they occur in the embryo itself. With trisomy 18, however, the interpretation of the cytogenetic finding remains ambiguous. The question arises as to whether an abnormal karyotype may be the cause of placenta insufficiency or is just coincidentally associated.
Maternal smoking habits and Down's syndrome
Authors: Cuckle H. S. , Alberman E. , Wald N. J. , Royston P. , Knight G. 
Published: March 2007

AbstractTwo series of pregnancies were studied to investigate the relationship between maternal smoking and the risk of fetal Down' s syndrome. In the first series, ascertained in the 1960s, in which smoking habits were determined after the outcome of pregnancy was known, the proportion of smokers (47 per cent) among the 461 women whose pregnancies ended in the birth of an infant with Down' s syndrome was similar to that in the 461 controls (46 per cent) who had pregnancies affected by other congenital disorders. In the second series, ascertained between 1973 and 1984, smoking habits were determined by measurement of cotinine in antenatal serum samples that were routinely collected and stored or, if a serum sample was not available, from information in the antenatal notes. In this series, the proportion of smokers (14 per cent) among the 91 women who had pregnancies associated with Down' s syndrome was lower than that among 413 controls (19 per cent), though this was not statistically significant. Collectively, our results provide no evidence for an association between fetal Down' s syndrome and smoking. Other published studies found a deficit of smokers among women who had pregnancies associated with Down' s syndrome. This may be partly due to some studies not taking adequate account of maternal age (older women are more likely to have had a Down' s syndrome pregnancy but are less likely to be smokers) and partly due to the greater tendency for positive findings to be published than negative ones.
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection
Authors: Wyandt Herman E. , Maker Thomas , Fisher Nancy L. , Patil Shivanand R. , Osella Peter , Luthardt Frederick W. , Kawada Charles , Williamson Roger , Milunsky Aubrey 
Published: March 2007

AbstractWe report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow‐up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12.
First‐trimester maternal serum alpha‐fetoprotein and human chorionic gonadotropin screening for chromosome defects
Authors: Nebiolo Linda , Ozturk Mehmet , Brambati Bruno , Miller Susan , Wands Jack , Milunsky Aubrey 
Published: March 2007

AbstractThe aim of this study was to determine the efficacy of combined maternal serum alpha‐fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG) screening in detecting chromosome defects in the first trimester of pregnancy. Sera of 492 women (previously assayed for MSAFP) were analysed for MShCG under code without knowledge of cytogenetic results. Overall, 48 of 492 patients (9·8 per cent) had either an MSAFP multiple of the median ⩽0·5 or an MShCG β/a z ratio multiple of the median ⩽ 0·25, eight of whom had a fetus with a serious chromosome defect. A third of fetuses with Down' s syndrome and 83 per cent with trisomy 18 were detected at a potential‘cost’ of providing chorionic villus sampling or amniocentesis in 8·6 percent of women screened.
Transvaginal chorionic villus sampling
Authors: Sidransky Ellen , Black Susan H. , Soenksen Dawn M. , Jones Shirley L. , Dorfmann Andrew D. , Schulman Joseph D. 
Published: March 2007

AbstractChorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely‐accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.
Antenatal ultrasonic diagnosis of dyssegmental dysplasia: A case report
Authors: Izquierdo Luis A. , Kushnir Ori , Aase Jon , Lantz P. , Castellano Teresa , Curet Luis B. 
Published: March 2007

AbstractSonographic prenatal diagnosis and management of a pregnancy complicated by dys‐segmental dysplasia of the Silverman‐Handmaker type are presented. This is a documented case of this type of short‐limbed dwarfism presenting in a family of Hispanic‐American ancestry.
Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow
Authors: Lewinsky R. M. , Johnson J. M. , Lao T. T. , Winsor E. J. , Cohen H. 
Published: March 2007

AbstractA case of fetal gastroschisis associated with 45,XY, —22/46.XY mosaicism and absent cerebral diastolic flow is described. This is the third case reported of monosomy 22 mosaicism, and the first one to be diagnosed antenatally.
Discordant findings in chorionic villus direct preparation and long term culture—mosaicism in the fetus
Authors: Schlesinger C. , Raabe G. , Ngo T. , Miller K. 
Published: March 2007

AbstractPrenatal cytogenetic study of chorionic villi showed a discrepancy between a normal female karyotype 46,XX in the direct preparation after short‐term incubation, and a 45,X karyotype in the long‐term culture. The subsequent amniocentesis revealed a normal karyotype in three cultures and a 45,X/46,XX mosaicism in one culture. Cytogenetic analysis of chorionic villi after termination of the pregnancy showed a normal karyotype in the direct preparation and a 45,X/46,XX mosaicism in the long‐term culture. Fetal lymphocytes showed normal karyotypes, whereas fibroblast cultures revealed a 45,X/46,XX mosaicism.
Cystic fibrosis prenatal diagnosis: Confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation
Authors: Carey W. F. , Nelson P. V. , Raymond S. , Morris C. P. 
Published: March 2007

AbstractA child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell‐free amniotic fluid at both 18 and 20 weeks gestation gave equivocal results. The pregnancy was terminated voluntarily because of a trend towards abnormal enzyme assay results on the second amniocentesis. Retrospectively, fetal tissues were found to be homozygous for the most common mutation of the cystic fibrosis gene (AF508), which confirmed the prenatal assessment and suggested that the first infant of the couple was probably also affected by the disease.
Congenital generalized cystic lymphangiomatosis diagnosed by prenatal ultrasound
Authors: Haeusler Martin C. H. , Hofmann Hans M. H. , Hoenigl Werner , Karpf Eva F. , Rosenkranz W. 
Published: March 2007

AbstractWe describe a previously unknown congenital abnormality of the lymphatic system, characterized by multiple cystic lesions of the lower extremities and thorax. Diagnosis was made by ultrasound in the second trimester. The ultrasound findings, pathology results, and differential diagnosis are presented.
Chorioangioma: A new inclusion in the prospective and retrospective evaluation of elevated maternal serum alpha‐fetoprotein
Authors: Thomas Ronald L. , Blakemore Karin J. 
Published: March 2007

AbstractTwo cases are presented which illustrate the association of elevated maternal serum alpha feteprotein (MSAFP) levels and chorioangiomas. These cases emphasize the importance of ultrasound study of the placenta in MSAFP elevation evaluation. In addition, placentas from pregnancies with otherwise unexplained MSAFP elevations should be submitted for pathologic study. A definitive retrospective diagnosis may thus be provided.
Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks' gestation, using trans vaginal sonography
Authors: Bronshtein Moshe , Siegler Efraim , Yoffe Nechemia , Zimmer Etam Z. 
Published: March 2007

AbstractTwo fetuses with heart abnormalities were detected by transvaginal sonography at 14 weeks of gestation. In the first fetus, a ventricular septal defect and an overriding aorta were detected and a diagnosis of tetralogy of Fallot was suggested. In addition, cystic hygroma and omphalocoele were visualized and the cytogenetic study revealed trisomy 18. In the second fetus, ventricular septal defect, pericardial effusion, and omphalocoele were detected.
Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy
Authors: Boelter William D. , Burt Beth Ann , Spector Elaine B. , Hinton David R. , Pavlova Zdena , Fujimoto Atsuko 
Published: March 2007

AbstractA pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.
Detection and enumeration of colonic mucosal cells in amniotic fluid using a colon epithelial‐specific monoclonal antibody
Authors: Chitayat David , Marion Robert W. , Squillante Linda , Kalousek Dagmar K. , Das Kiron M. 
Published: March 2007

AbstractSince its introduction, prenatal diagnosis of chromosomal and metabolic disorder by mid‐trimester amniocentesis has relied upon the use of a mixture of fetal cells obtained from amniotic fluid. Little knowledge has been gained in the sorting of these cells for diagnosis of tissue‐specific disorders. In an attempt to determine the contribution of fetal colonic mucosal cells to the overall amniocyte population, we used the colonic epithelial‐specific monoclonal antibody (MC‐Ab) 7E12H12, IgM isotype. Specimens of the small intestine, colon, buccal mucosa, kidney, urinary bladder, and umbilical cord were obtained from electively aborted normal fetuses of 12–28 weeks' gestation. All of these specimens were examined with 7E12H12 by the immunoperoxidase technique. The MC‐Ab reacted with the colonic epithelial cells but not with any of the other tissues. In addition, 40 amniotic fluid samples obtained from women between 16 and 18 weeks of gestation, who underwent amniocentesis because of advanced maternal age, were tested using a fluorescent activated cell sorter. Among the amniotic fluid specimens examined, 18·4 ± 10·3 percent cells reacted with 7E12H12. Double immunofluorescence studies revealed that all Mc‐Ab‐stained cells contained secretory component, confirming that they were epithelial in origin. All fetuses whose amniotic fluid was analysed had normal karyotypes and amniotic fluid alpha‐fetoprctein levels that were also normal. This study demonstrates that cell‐specific Mc‐Ab can be used to detect colon cells in the amniotic fluid and that colon cells contribute significant numbers in the mixture of amniotic fluid cells. This technique could be helpful in the prenatal diagnosis of disorders in which the flow of amniotic fluid through the fetal intestine is impaired, such as cystic fibrosis, imperforate anus, Hirschsprung aganglionic megacolon, and intestinal atresia.
Second‐trimester levels of maternal serum unconjugated oestriol and human chorionic gonadotropin in pregnancies affected by fetal anencephaly and open spina bifida
Authors: Canick Jacob A. , Knight George J. , Palomakij Glenn E. , Haddow James E. 
Published: March 2007

AbstractUnconjugated oestriol (uE3) and human chorionic gonadotropin (hCG) levels were determined in second‐trimester maternal serum (MS) samples from 21 pregnancies associated with fetal anencephaly and 15 pregnancies associated with fetal open spina bifida. Each measurement was expressed as a multiple of the median (MoM) for unaffected pregnancies for each completed week of gestation. In pregnancies associated with anencephaly, the median value for MSuE3 was very low (0–17 MoM, range <0·12–0·33 MoM), suggesting a functional defect in the fetal adrenal prior to 20 weeks' gestation; the median value for MShCG was also low (0–73 MoM), although not to the same extent as for MSuE3. A biological explanation for the hCG result is not apparent. In pregnancies associated with open spina bifida, the MSuE3 and MShCG values were unremarkable, consistent with a lack of involvement of these open fetal defects in the synthesis and secretion of uE3 and hCG.
Prenatal diagnosis of an intra‐abdominal sacrococcygeal teratoma
Authors: Morrow Robert J. , Whittle Martin J. , McNay Margaret B. , Cameron Alan D. , Raine Peter A. M. , Gibson Angus A. M. 
Published: March 2007

AbstractThe prenatal diagnosis of a presacral (type IV) sacrococcygeal teratoma (SCT) is described. The initial ultrasound appearance was suggestive of a lower urinary tract obstruction, but further ultrasonic examination and radiological imaging using contrast medium led to the diagnosis of SCT. This is the first prenatal diagnosis of a totally intra‐abdominal SCT.
Trisomic pregnancies have normal human chorionic gonadotropin bioactivity
Authors: Kratzer Paul G. , Golbus Mitchell S. , Finkelstein David E. , Taylor Robert N. 
Published: March 2007

AbstractSera from women carrying either chromosomally normal or aneuploid fetuses in the first half of pregnancy were assayed for human chorionic gonadotropin (hCG) bioactivity in order to determine whether differences might provide the basis for a useful antenatal screen for aneuploidy. A mouse uterine weight assay was used to assess hCG bioactivity in sera from 35 patients undergoing chorionic villus sampling (12 normal pregnancies and 23 trisomic pregnancies) and in sera from 18 patients undergoing elective second‐trimester abortion (12 presumed normal pregnancies, 3 trisomic pregnancies, and 3 pregnancies with neural tube defects). The hCG bioactivity to immunoactivity (B:I) ratio of normal pregnancies progressively decreased from 7.7±1.3 at 4–5 menstrual weeks, to 4.7±0.4 at 9–12 menstrual weeks, to 3.3±0.5 at 16–20 menstrual weeks. There were no significant differences in the B:I ratios between normal and aneuploid pregnancies in either the first‐trimester (4.7±0.4 versus 5.2±0.3) or the second‐trimester samples (3.3±0.5 versus 2.6±0.3), despite significantly greater hCG concentrations in the trisomic pregnancies. We conclude that while aneuploid pregnancies display dysfunctional regulation of hCG expression, the bioactivity of their hCG is normal and does not appear to form the basis for a useful screen for aneuploidy.
Women's choices for fetal chromosome analysis
Authors: Abramsky Lenore , Rodeck C. H. 
Published: March 2007

AbstractFive hundred and eighty women aged 35 or more at the expected date of delivery were offered the chance to join the MRC trial comparing CVS and amniocentesis at Queen Charlotte's Hospital. After a 1 h non‐directive counselling session, they were asked to choose between having no test, having amniocentesis, or joining the trial in the hopes of having CVS (or in some cases having CVS outside the trial). The majority of women chose to have some test, and CVS was a more popular choice than amniocentesis.
Birth prevalence of down's syndrome in England and Wales
Authors: Cuckle H. , Nanchahal K. , Wald N. 
Published: March 2007

AbstractThe natural birth prevalence of Down's syndrome for England and Wales in 1974–1987 (i.e., the birth prevalence in the absence of prenatal diagnosis and the induced abortion of affected pregnancies) was estimated by applying the maternal age‐specific birth prevalence derived from epidemiological studies to the number of births in single‐year age groups tabulated by the Office of Population Censuses and Surveys (OPCS). On average, the natural birth prevalence was 12.6 per 10 000 births and increased slightly from 12.2 to 13.2 per 10 000 births over the 14‐year period. Using data on induced abortions carried out on account of Down's syndrome reported to OPCS under the statutory abortion notification scheme, 14 per cent of affected births were avoided by the induced abortion of affected pregnancies, so that the actual birth prevalence of Down's syndrome was estimated at 10.8 per 10000 births. Using data on Down's syndrome births reported to OPCS under the voluntary congenital malformation notification scheme, the prevalence was 7.2 per 10000 births, so only 67 per cent of the estimated number of affected births were, in fact, notified to the scheme.