bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of infantile hypophosphatasia
Authors: Kishi Fumio , Matsuura Shinya , Murano Ichiro , Akita Ayakazu , Kajii Tadashi 
Published: March 2007

AbstractPrenatal diagnosis was attempted in a pregnant Japanese woman whose son had died of infantile hypophosphatasia, using chorionic villi sampled at 10 weeks of gestation. Southern blot analysis of restriction fragment length polymorphism was used as a guide, with cDNA for the human liver‐type alkaline phosphatase as a probe, and BclI as a restriction enzyme. The fetus was found to be a heterozygote; the pregnancy was allowed to continue; and the baby born was phenotypically normal.
Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation
Authors: Hackett G. A. , Smith J. H. , Rebello M. T. , Gray C. T. H. , Rooney D. E. , Beard R. W. , Loeffler F. E. , Coleman D. V. 
Published: March 2007

AbstractEarly arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent).Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism.Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes.Sixty‐two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty‐nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12.The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.
Induction of fetal lung maturation with intra‐amniotic thyroxine in multiple pregnancy
Authors: Dan Uzi , Barkai Gad , Reichman Brian , Goldman Boleslow , Mashiach Shlomo 
Published: March 2007

AbstractTwo premature triplet pregnancies underwent repeated treatment aimed at acceleration of individual fetal lung maturity while administering intravenous tocolytic treatment. From the early third trimester, repeated amniocenteses were used for intra‐amniotic administration of thyroxine to each sac, while the individual fetal lung maturation rate was determined by surfactant microviscosity until lung maturity was achieved.
DNA‐based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1)
Authors: Järvelä Irma , Rapola Juhani , Peltonen Leena , Puhakka Lea , Vesa Jouni , Ämmälä Pirkko , Salonen Riitta , Ryynänen Markku , Haring Pertti , Mustonen Aki , Santavuori Pirkko 
Published: March 2007

AbstractEleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.
Prenatal paternity testing by dna analysis
Authors: Lobbiani A. , Nocco A. , Vedrietti P. , Brambati B. , Colucci G. 
Published: March 2007

AbstractPrenatal paternity testing was evaluated by DNA analysis in chorionic villus biopsies obtained during the 7th‐22nd weeks of gestation. Using highly polymorphic variable number of tandem repeats (VNTR) probes, we analysed four cases consisting of mother/child/alleged father trios. In all cases, we were able to detect maternal and paternal alleles and could establish or exclude paternity. The application of DNA analysis represents a new important diagnostic aid for all cases that require a prenatal identification of paternity.
Prognosis of fetuses with a cystic hygroma
Authors: Bernstein Harold S. , Filly Roy A. , Goldberg James D. , Golbus Mitchell S. 
Published: March 2007

AbstractThis paper reports our experience with 55 fetuses identified in utero to have a cystic hygroma. The outcome of fetuses with an isolated cystic hygroma, cystic hygroma with non‐immune hydrops, and cystic hygroma with multiple anomalies was evaluated. Approximately two‐thirds of karyotypes were aneuploid, and a strong association of septation and aneuploidy existed. Only five cases, four of which had isolated hygromas, came to term and resulted in live births. Two of these involved small non‐septated lesions which resolved in utero.
Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q
Authors: Richkind K. E. , Mahoney M. J. , Evans M. I. , Willner J. , Douglass R. 
Published: March 2007

AbstractFive cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha‐fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.
First‐trimester maternal serum unconjugated oestriol and alpha‐fetoprotein in fetal Down's syndrome
Authors: Crandall Barbara F. , Golbus Mitchell S. , Goldberg James D. , Matsumoto Myles 
Published: March 2007

AbstractMaternal sera (MS) taken from 1396 women prior to chorionic villus sampling at 9–12 menstrual weeks were assayed for unconjugated oestriol (uE3) and alpha‐fetoprotein (AFP). Median levels increased by 41 and 26 per cent per week respectively in normal pregnancies. There were 32 pregnancies with a chromosome abnormality. The median MS uE3 and AFP were 0.73 and 0.75 multiples of the median (MoM) respectively in the ten cases of Down's syndrome (DS) but not decreased in the other abnormalities. These results suggest that both uE3 and AFP may be useful in identifying DS in the first trimester. Additional prospective studies are needed to confirm these findings.
Anxiety in women with low maternal serum alpha‐fetoprotein screening results
Authors: Abuelo Dianne N. , Hopmann Marita R. , Barsel‐Bowers Gail , Goldstein Amy 
Published: March 2007

AbstractThe purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha‐fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocentesis because of advanced maternal age. The results indicate a higher level of anxiety in women with low alpha‐fetoprotein (AFP) levels.
First‐trimester prenatal diagnosis of hypophosphatasia: Experience with 16 cases
Authors: Brock David J. H. , Barron Lilias 
Published: March 2007

AbstractWe have carried out first‐trimester prenatal diagnosis of hypophosphatasia in 1 6 pregnancies with a 1 in 4 risk of this condition. The liver/bone/kidney isoenzyme of alkaline phosphatase was measured in chorionic villus samples using a specific monoclonal antibody and an enzymatic amplification system. Fifteen of the 16 pregnancies were correctly predicted, while one has been lost to follow up. We suggest that this assay system is likely to be superior to DNA‐base methods for the first‐trimester prenatal diagnosis of hypophosphatasia.
Screening for Down's syndrome in older women based on maternal serum alpha‐fetoprotein levels and age: Preliminary results
Authors: Zeitune Moshe , Ben‐Tovim Talma , Fejgin Moshe , Amiel Aliza , Beyth Yoram 
Published: March 2007

AbstractWe report the results of screening for Down's syndrome (DS) in older women using published rate schedules based on maternal serum alpha‐fetoprotein (MSAFP) and age. Five hundred and seventeen patients aged 35 years and older, who were referred for a mid‐trimester genetic amniocentesis, were first tested for MSAFP and then underwent an amniocentesis. Individual risks for DS, combining MSAFP and age, were derived using three different published rate schedules. Theoretical selection for amniocentesis was made using the cut‐off level of the average collective risk for a 35‐year‐old woman (1:380 at live birth or 1:270 at amniocentesis). Six affected pregnancies (five with DS and one with trisomy 18), which were diagnosed prenatally, were all found to be at a higher risk than the specified cut‐off. These cases would have been diagnosed in any event, using any of the published rate schedules. According to these rate schedules, between 39 and 45 per cent of the patients would be in the lower risk group and therefore would have been counselled not to undergo amniocentesis. Further studies should be conducted in order to reach conclusive screening policies for DS in older women.
Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn
Authors: Djalali M. , Barbi G. , Grab D. 
Published: March 2007

AbstractA case of true fetal mosaicism 46,XY/47,XY, + 17 was diagnosed in amniotic fluid cells. After genetic counselling and unsuccessful periumbilical blood sampling the pregnancy continued to term, and a healthy male infant was born. Lymphocytes of the newborn had a normal karyotype. Follow‐up of the child at age 18 months showed normal physical and mental development indicating that the trisomic cell line was restricted most probably to the extra fetal tissue.
Is placental mosaicism associated with poor perinatal outcome?
Authors: Leschot Nico J. , Wolf Hans 
Published: March 2007

AbstractIn 37 pregnancies with placental mosaicism detected at first‐trimester chorionic villus sampling in 2000 pregnancies, two pregnancies (5.4 per cent) ended in a spontaneous abortion at 15 weeks (46,XX/47,XX, + 16) and in a perinatal loss in a term pregnancy (46,XY/ 47,XY, +10), respectively. The outcome of the other 35 pregnancies was normal. The total pregnancy loss rate before 28 weeks in the first 1000 pregnancies was previously reported to be 3.6 per cent.
Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review
Authors: Barber John C. K. , Mahl Harjit , Portch Janet , Crawfurd Martin D'A. 
Published: March 2007

AbstractA 39‐year‐old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G‐dark band 11 pi 2 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G‐dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.
Isoelectric focusing pattern of human amniotic fluid α‐fetoprotein
Authors: Wiechen Kai , Plendl Hansjörg , Grote Werner 
Published: March 2007

AbstractIsoelectric focusing (IEF) of amniotic fluid α‐fetoprotein (AFP) in thin‐layer polyacrylamide gels containing 8 M urea followed by immunoblotting reveals at least nine bands, band I lying next to the cathode. Compared with 298 amniotic fluid samples from normal pregnancies, we found that the density of band V was increased in seven cases of fetal death. In 16 amniotic fluid samples from pregnancies with open neural tube defects (ONTO), band V disappeared or was markedly decreased. In seven cases with elevated AFP and positive acetylcholines‐terase (AChE) due to contamination with fetal blood, no difference in pattern was observed compared with samples from normal pregnancies. It is suggested that IEF of AFP and subsequent immunoblotting are an apparently diagnostic test for ONTD and intrauterine fetal death (IUFD).
Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; Report of two cases
Authors: Suzumori K. , Kanzaki T. 
Published: March 2007

AbstractTwo cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed.
Early transvaginal sonographic diagnosis of alobar holoprosencephaly
Authors: Bronshtein Moshe , Wiener Zeev 
Published: March 2007

AbstractHoloprosencephaly is a cerebral anomaly resulting from incomplete cleavage of the primitive prosencephalon or forebrain. Early detection of this anomaly is very important since the most severe form is incompatible with life. The diagnosis also signals the need for a chromosomal determination since chromosomal abnormalities have been associated with this anomaly. An early diagnosis of alobar holoprosencephaly at 14 weeks' gestation, employing transvaginal sonography, is reported. Our findings are compared with prenatal transabdominal sonographic findings of holoprosencephaly which have been reported during the last decade in the literature.
Maternal serum human chorionic gonadotropin levels in twin pregnancies
Authors: Nebiolo Linda M. , Adams William B. , Miller Susan L. , Milunsky Aubrey 
Published: March 2007

AbstractIntroduction of combined screening with maternal serum alpha‐fetoprotein and human chorionic gonadotropin (MShCG) assays for fetal chromosome defects requires establishment of the normal range for twins. This report documents that the normal range for MShCG between 15 and 19 weeks in twin gestations was 1.84–2.41 multiples of the singleton median. Of the 192 twin pregnancies studied, 31.7 and 47.9 per cent had MShCG values ≥2.5 and ≥ 2.0 multiples of the singleton median, respectively.
Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction
Authors: Clark C. , Kelly K. F. , Smith N. , Fairweather N. , Brown T. , Johnston A. , Haites N. E. 
Published: March 2007

AbstractThe polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC‐dA)n.(dG‐dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2‐ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.
Post‐mortem findings in a fetus with 48,XXY, + 21
Authors: Smith A. , Watson G. , Michas J. , Vtersbach R. , Ellwood D. 
Published: March 2007

AbstractA fetus with 48,XXY, + 21 was detected on routine amniocentesis at 15 weeks for advanced maternal age. Fibroblast cultures from six different tissues were initiated after termination and each showed the same karyotype without any tissue limited mosaicism. The only pheno‐typic abnormality detected at post‐mortem examination was bilateral clinodactyly of the fifth finger which had been detected on ultrasound. The maternal serum alpha‐fetoprotein and the femur length were normal. Maternal age remains an essential criterion for prenatal diagnosis.
Preimplantation diagnosis: A patient perspective
Authors: Pergament E. 
Published: March 2007

AbstractA new dimension in the prevention of birth defects will be achieved when genetic diseases can be routinely diagnosed in embryos prior to implantation. The impressions and attitudes towards preimplantation diagnosis were studied in prospective patients, women at high reproductive risk for a genetic disease. Their perspective highlighted not only the advantages and disadvantages of this new approach, but also those changes necessary in order for preimplantation diagnosis to become a useful and practical technique. The data presented are based on information obtained by a mailed questionnaire answered by 58 women. The main benefit of preimplantation diagnosis for these high‐risk women would be the ability to undertake a pregnancy without having to be subjected to the physical and/or emotional trauma of elective termination. Their major concerns related to possible damage to the embryo following biopsy, the cost of the procedure, and the low success rate of completed pregnancies. Other issues to be addressed before preimplantation diagnosis could begin to compare favourably with existing forms of prenatal testing were that the methods of obtaining oocytes or embryos should be simple, well tolerated, highly efficient, and low in maternal risk, and that the genetic analysis of embryonic or extraembryonic cells should be unequivocally accurate.
Chromosome analysis of multipronuclear human oocytes after in vitro fertilization
Authors: Martin‐Pont Brigitte , Selva Jacqueline , Bergere Marianne , Pillion Corinne , Hugues Jean Noel , Tamboise Agnès , Tamboise Edmond 
Published: March 2007

AbstractMultipronuclear human eggs are frequent after in vitro fertilization. Their chromosome analysis can provide useful information. Before cleavage it can confirm the suspected poly‐ploidy. Among the cleaved multipronuclear eggs it provides an estimation of the incidence of the possible return to diploidy.Ninety‐four multipronuclear eggs were fixed at the first, second, or third cleavage according to the air‐drying method of Tarkowski with or without colchicine exposure: 60 were successfully analysed. Twelve were stopped before cleavage (six without colchicine treatment and six with colchicine treatment). They were polyploid, confirming the cytological observation. Forty‐eight eggs cleaved and were stopped by colchicine treatment and karyotyped. Seventeen eggs (35 per cent) had produced diploid embryos. Mosaicism was frequent (15 cases, 31 per cent). Triploidy was not frequent (8 eggs, 17 per cent). Haploidy constituted the remaining cases (8 eggs, 17 per cent).Our data indicate that the initial count of pronuclei is a reliable test. Multipronuclear one‐cell oocytes were confirmed to be polyploid. Furthermore, the developmental capacity of the multipronuclear oocytes is variable. Most of them cleaved. However, many multipronuclear oocytes led to diploid cleaving eggs.
β‐Glucuronidase activity in mouse oocytes, mouse preimplantation embryos, and human gametes
Authors: van Blerk M. , Lissens W. , Nijs M. , van der Linden M. , van Steirteghem A. C. , Liebaers I. 
Published: March 2007

AbstractA microfluorimetric assay was designed to monitor β‐glucuronidase (β‐gluc) activity during the early development of mouse embryos and was also applied to measure β‐gluc activity in human sperm cells and single human oocytes. Mouse oocytes and preimplantation embryos at different stages of development, failed fertilized human oocytes, and human sperm cells were collected, and β‐gluc activity was analysed. In the mouse, β‐gluc activity could be measured starting from the morula stage on in a pooled sample of 15 embryos and at blasto‐cyst formation in one single embryo. β‐Gluc activity was low in human sperm cells. The enzyme could be readily demonstrated in 87 per cent of non‐fertilized human oocytes. Considerable variation in β‐gluc activity was noticed between individual oocytes.
Superovulation fails to increase human blastocyst yield after uterine lavage
Authors: Carson Sandra A. , Smith Albert L. , Scoggan Janet L. , Buster John E. 
Published: March 2007

AbstractUterine lavage affords the potential for non‐invasive human blastocyst recovery, with obvious potential for preimplantation genetic diagnosis. In an effort to duplicate in women the multiple blastocyst recovery per cycle that can be achieved in several other species, we initiated a programme in which fertile women underwent superovulation, followed by lavage and embryo collection.We superovulated 15 fertile women, aged 21–40, in 29 cycles using one of four regimens. Insemination was by either intercourse or artificial intracervical donor insemination with cryopreserved sperm from men of proven fertility. In 28 of 29 cycles, the uterus was lavaged daily for 1, 2, or 3 days between 5 and 10 days after human chorionic gonadotropin (hCG) administration or luteinizing hormone (LH) surge. Almost total fluid volume was recovered in every lavage. There were no retained pregnancies and no complications. Surprisingly, only two morulae, one blastocyst, and four unfertilized ova were recovered. Thus, alterations in ovulation induction, insemination timing, or lavage techniques must be contemplated in order to increase the blastocyst yield and thus fulfil the potential of uterine lavage for preimplantation diagnosis.
Possible effect of gestational age on the detection of fetal nucleated erythrocytes in maternal blood
Authors: Bianchi Diana W. , Stewart Jane E. , Garber Mary Frances , Lucotte Gérard , Flint Alan F. 
Published: March 2007

AbstractMaternal venous blood samples, obtained from six pregnant women, were used as a source of fetal nucleated erythrocytes (NRBC). Fetal cell enrichment was potentiated by flow sorting with the monoclonal antibodies Tf R, Leu‐4, and Leu‐M3. Single copy Y chromosomal DNA sequences were detected in samples obtained from two women at 11 and 12 weeks' gestation. Y DNA sequences were absent in a subsequent sample from one of these women at 19 weeks and in two other women at 16 and 20 weeks. All four women delivered males. Y DNA sequences were not detected in two women who delivered females. By combining these results with prior data on the detection of Y chromosomal DNA sequences in maternal blood from male‐bearing pregnancies, a relationship between gestational age and feta‐maternal transfer of NRBC is suggested.