bluuebunny/crossref_metadata_2025 huggingface dataset:
Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling
Authors: Callen D. F. , Korban G. , Dawson G. , Gugasyan L. , Krumins E. J. M. , Eichenbaum S. , Petrass J. , Purvis‐Smith S. , Smith A. , Den Dulk G. , Martin N.
Published: March 2007

From a total of 1312 diagnostic chorionic villus samplings (CVS) there were 22 which showed discordance between the karyotype of the chorionic villi and that of the fetus. This frequency was some 20‐fold higher than that reported at amniocentesis. In the majority of discordant cases, the fetal karyotype was normal while the placenta! karyotype was mosaic. In four cases, the placenta! karyotype was non‐mosaic (a trisomy 16, a monosomy X, and two tetraploids) while the fetal karyotype was normal. In one case, the placenta was trisomy 18 while the fetus was mosaic. There were two ‘false‐negative’ results where short‐term methods showed only normal cells while both long‐term cultures of chorionic villi and fetal cells were mosaic, in one 46,XY/47.XXY and in the other 46,X Y/47.X Y, + 21.
Chromosome banding in direct preparations of chorionic villi
Authors: Murer‐Orlando M. , Lierena J. , McGuire M. , Zahed L. , Crolla J. , Bobrow M. , Sheridan R.
Published: March 2007

Chorionic villus sampling (CVS) is now currently offered for first trimester prenatal diagnosis of genetic disorders. Chromosome analysis of CVS in direct and culture preparations is possible using modifications of standard banding techniques. We summarize our experience in applying QFQ, GTG, RBG, CBG, DA/DAPI, NOR, and SC differentiation protocols to direct preparations.

Characteristic chromosome regions are properly labelled by these techniques, and analysis of 300 band stage karyotypes is consistently achievable on GTG banded direct preparations.

However, banding of CVS direct chromosomes has proved to be difficult, and the analysis needs to be backed up by culture preparations.
First trimester diagnosis of Gaucher disease in a fetus with trisomy 21
Authors: Besley G. T. N. , Ferguson‐Smith M. E. , Frew C. , Morris A. , Gilmore D. H.
Published: March 2007

A 38‐year‐old lady, who had a previous infant with type 2 Gaucher disease, underwent prenatal diagnosis by chorionic villus sampling at 9 weeks' gestation. Results on the fresh villus revealed a 47,XY,+21 karyotype and a marked deficiency (2 per cent of control) of β‐glucosidase activity. Following termination, villus material was cultured which initially revealed only a partial enzyme deficiency and a normal female karyotype, i.e., maternal cells. A subsequent culture contained 47,XY, + 21 cells which were deficient in β‐glucosidase activity, thus confirming the diagnosis. The results in this interesting case illustrate the potential dangers of maternal cell contamination in cultured villus cells.
Prenatal diagnosis with biotinylated chromosome specific probes
Authors: Guyot Bernard , Bazin Anne , Sole Yvette , Julien Christophe , Daffos Fernand , Forestier François
Published: March 2007

We have used a Y‐chromosome specific DNA probe in a controlled study to determine the presence of Y‐chromosome material and to detect numerical abnormalities in uncultured amniotic fluid cells by fluorescent hybridization. Using this non‐radioactive method, we correctly predicted fetal sex within 48 h in all but 3 of 54 cases and identified an XYY syndrome. The technique was previously tested with no false‐positive or false‐negative results on cultured interphase or metaphase nuclei of fetal fibroblasts and adult T‐lymphocytes. Fluorescent in situ hybridization was applied to long‐term fixed cytogenetic preparations up to 44 months old and was shown to be reliable.
Direct and short‐term culture preparation of chorionic villi. Is any one method best?
Authors: Holmes D. S. , Fifer A. M. , Mackenzie W. E. , Griffiths M. J. , Newton J. R.
Published: March 2007

Chorionic villi from 20 diagnostic cases were prepared for cytogenetic analysis by a direct and two short‐term culture methods. No significant differences were found between the methods in the quality and quantity of metaphases obtained. A further study using villi from 20 pre‐termination patients indicated an inherent variation in the quality of villi resulting in inconsistent processing and variation in the response of a sample to the methods. This suggests that it would be advantageous to process the villi by more than one method.
Diastrophic dysplasia: A specific prenatal diagnosis by ultrasound
Authors: Gembruch U. , Niesen M. , Kehrberg H. , Hansmann M.
Published: March 2007

In a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnoses of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs (‘hitchhiker thumbs’) and big toes.
Umbilical cord pseudocyst in trisomy 18
Authors: Jauniaux Eric , Donner Catherine , Thomas Christine , Francotte Jacques , Rodesch Frédéric , Avni Freddy E.
Published: March 2007

Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishing the karyotype in fetuses with such umbilical cord anomalies and the importance of careful examination of placentas and infants born with such defects.
Prenatal diagnosis of rhizomelic chondrodysplasia punctata
Authors: Hoefler S. , Hoefler G. , Moser A. B. , Watkins P. A. , Chen W. W. , Moser H. W.
Published: March 2007

Plasmalogen biosynthesis and phytanic acid oxidation activity were measured in cultured chorionic villus samples or amniocytes from four pregnancies at risk for the rhizomelic form of chondrodysplasia punctata (RCDP). Normal results were obtained in three of the samples and post‐natal examination or fetal ultrasound studies confirmed that the fetuses were unaffected. Chorionic villus culture in one case demonstrated defective plasmalogen biosynthesis and lack of phytanic acid oxidation. Pregnancy was interrupted at 10 weeks. Immunoblot studies of post‐mortem fetal tissues showed thatperoxisomal 3‐oxoacyl‐coenzyme A thiolase was present in the unprocessed form, a finding we had previously demonstrated in RCDP. These results establish that RCDP can be identified prenatally.
Transabdominal chorionic villus sampling. Clinical experience of 1159 cases
Authors: Brambati B. , Lanzani A. , Oldrini A.
Published: March 2007

The efficacy and risks of transabdominal free‐hand ultrasound‐guided fine needle aspiration technique were evaluated in 1159 pregnancies submitted to chorionic villus sampling (CVS) in the first trimester and early in the second trimester. An adequate amount of chorionic tissue was obtained by two needle insertions in 99·7 per cent of cases, and a second tapping was needed in 3·5 per cent of cases. A local peritoneal reaction was the only early complication clearly related to the procedure, and it occurred in 0·3 per pent of cases without any adverse effect on the maternal and fetal outcome. The correct abortion rate in 716 consecutive concluded pregnancies was 2·4 per cent, while the rate of late obstetrical complications and perinatal mortality and morbidity compares favourably with the rates in the general population. Because of its simplicity and practicability, transabdominal aspiration is the procedure of choice and is especially recommended fonintensive CVS routine conditions.
First‐trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes
Authors: Curtis Ann , Strain Lisa , Mennie Moira , Holloway Susan , Raeburn J. A. , Besley G. T. N. , Brock D. J. H.
Published: March 2007

First‐trimester prenatal diagnosis of cystic fibrosis (CF) using linked DNA markers is usually only possible if there is an index affected child to establish the haplotype of the parental chromosomes. We describe a prenatal diagnosis where fibroblasts, cultured from the skin of a deceased affected child and then held in frozen storage for 3 years, were used as the starting point for tracking the CF gene. The fetus was diagnosed as a homozygous normal and the diagnosis confirmed by immunoreactive trypsin testing after birth. It was also possible to establish heterozygosity in the aunt of the affected child.
The application of automated metaphase scanning to direct preparations of chorionic villi
Authors: Zahed L. , Murer‐Orlando M. , Bobrow M.
Published: March 2007

In order to increase the speed of analysis of metaphases from chorionic villi direct preparations, we have investigated the use of two automatic scanning devices, the Magiscan II and a version of Metafip (the research laboratory precursor of Cytoscan). The speed, efficiency, and ranking system have been compared to manual scanning. Results show that both machines detect approximately 80 per cent of the total analysable metaphases detected by a trained cytogeneticist. There appears to be reasonable agreement in ranking between methods.
Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update
Authors: Hsu Lillian Y. F.
Published: March 2007

A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89·4 percent) were reported to be associated with a grossly normal male phenotype. Three cases (6·4 percent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70·O per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long‐term follow‐up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.
Synchronization of amniotic fluid cells for high resolution cytogenetics
Authors: Qu JY. , Dallaire L. , Lemieux N. , Drouin R. , Richer C. L.
Published: March 2007

A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5‐bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for another 6 1/2–7 h, then harvested in prometaphase without colcemid. This technique gives a mitotic index of 3·7 per cent after thymidine synchronization and of 3·2 per cent after BrdU synchronization, and more than half of the mitoses were in the earlier phases with the chromosomes showing more than 550 bands per haploid set. GBG, GTG, and RHG prometaphases are presented. Precise high‐resolution banding of chromosomes of amniotic fluid cells can increase diagnostic accuracy.
Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y
Authors: Alliet J. , Leporrier N. , Lebris C. , Gourdier D.
Published: March 2007

A case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy.
Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at‐risk case
Authors: Pachì A. , Giancotti A. , Torcia F. , de Prosperi V. , Maggi E.
Published: March 2007

A case of early diagnosis at 13 weeks' gestational age of Meckel–Gruber syndrome by ultrasound is reported in a patient with a 25 percent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.
Normal ranges of the activities of ten different enzymes in 100 independent preparations of chorionic villi. Comparison of specimens from induced abortions, biopsies, and cultured cells
Authors: Burgemeister Renate , Gutensohn Wolf
Published: March 2007

In order to obtain a large set of normal control values, the activities of three cytosolic enzymes of purine metabolism and seven lysosomal enzymes were determined in homogenates of chorionic villi derived from induced abortions of normal pregnancies (7th–12th week) in about 100 individual cases. Possible reasons for the rather wide ranges of normal distributions of enzyme activities are discussed. The values are compared: (1) with available data in the literature; (2) with activities determined in decidual homogenates prepared from the same samples; (3) with activities of cells of cultures established and grown from villi in the same samples; and (4) with enzyme activities measured in chorionic biopsies using the same methods. Implications for the prenatal diagnosis of the associated metabolic diseases are considered.
Differentiation in human chorionic villus cultures: hCG and hla expression
Authors: Phillips C. N. , McCue P. A. , Whitsett C. F. , Priest J. H.
Published: March 2007

The present report describes methods to separate, culture, and study syncytio‐cytotrophoblast and mesenchymal core of the first‐trimester human chorionic villus. The cultured outer layer cells (syncytio‐cytotrophoblast) are multinucleated, pleomorphic, and active in the formation of human chorionic gonadotrophin (hCG). The mesenchymal core cells are more fibroblast‐like in appearance, do not show multinucleation, and have less hCG in their culture media. Both cultured cell types express HLA (ABC) Class I histocompatibility antigens but not HLA (DR) Class II antigens.

These and previous studies from this laboratory postulate different embryonic origins: (1) Syncytio‐cytotrophoblast cultures of chorionic villus derive from differentiated trophoblast and preserve multinucleation as well as hCG hormone function. (2) Cells cultured from the chorionic villus core originate from extraembryonic mesenchyme. (3) Amniocytes (AF cells) cultured from amniotic fluid resemble the multipotential and early‐stage trophoblast, retaining pleomorphism, multinucleation, and lacunae formation as well as production of hCG, progesterone, oestrogen, basement membrane glycoprotein, and Type IV collagen. These cell types cultured from the chorionic villus and amniotic fluid provide a means for in vitro study of specific embryonic cell lineages.
Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment
Authors: Eydoux P. , Choiset A. , le Porrier N. , Thépot F. , Szpiro‐Tapia S. , Alliet J. , Ramond S. , Viel J. F. , Gautier E. , Morichon N. , Girard‐Orgeolet S.
Published: March 2007

Nine hundred and thirty‐six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of maternal age.

Frequencies of chromosomal aberrations in each case were respectively 4·4, 6·7 and 15·8 per cent, compared with 3·18 per cent when the fetal karyotype was performed because of maternal age. High rates of chromosomal aberrations are observed in cases of cervical hygroma, limb abnormalities, omphaloceles, duodenal stenosis, hydrocephalus, and facial abnormalities. In the case of polymalformations, this rate was 29·2 per cent. When malformations were seen together with an amniotic fluid disorder or growth retardation, 21·5 per cent chromosomal aberrations were observed. This frequency was 10·4 per cent when growth retardation was associated with an amniotic fluid disorder.

Trisomy 13, 18, 21 and monosomy X accounted for 4/5 of all abnormalities in which we observed a high rate of triploidies (4·9 per cent) and balanced (3·3 per cent) or unbalanced (9·8 per cent) non‐Robertsonian structural abnormalities. Sonographic ascertainment of these aberrations and prenatal characteristics of major anomalies are discussed.
Fetal liver alanine: Glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1
Authors: Danpure Christopher J. , Jennings Patricia R. , Penketh Richard J. , Wise Pauline J. , Cooper Penelope J. , Rodeck Charles H.
Published: March 2007

Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the hepatic peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT, EC 2.6.1.44) (Danpure and Jennings, FEBS Lett., 201, 20–24, 1986). The activity of AGT has been measured in fetal livers of gestational age 14–21 weeks. Activity increases up to 17 weeks and then levels off between 17 and 21 weeks. At this time, the mean AGT activity is about 30 per cent of the mean normal postnatal level. As in adult liver, the AGT enzyme activity and the AGT immunoreactive protein are peroxisomal. Prenatal diagnosis has been performed by measuring AGT enzyme activity and immunoreactive AGT protein on liver biopsies from two fetuses at risk for primary hyperoxaluria type 1. One was unaffected and one was affected.
Prenatal diagnosis of a fetus with an extra idic(X) (q27)
Authors: Dallapiccola Bruno , Ferranti Giovanna , Prima Lucia
Published: March 2007

A fetus with an extra idic(X) (q27) was ascertained during prenatal diagnosis. The derived X and one normal X chromosome were late replicating. Due to lack of previous experience, genetic counselling presented obvious difficulties and the fetal phenotype could be only tentatively predicted.
Usefulness of linkage disequilibrium of KM‐19 and XV‐2c DNA probes for genetic counselling in a high‐risk cf family
Authors: Chomel J. C. , Haliassos A. , Tesson L. , Mathieu M. , Kaplan J. C. , Kitzis A.
Published: March 2007

A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV‐2c and KM‐19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600.
Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic, monozygotic co‐twin
Authors: Donnenfeld Alan E. , Glazerman Larry R. , Cutillo Denise M. , Librizzi Ronald J. , Weiner Stuart
Published: March 2007

Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography.
Practical experience using transabdominal chorionic villus biopsies taken after 16 weeks' gestation for rapid prenatal diagnosis of chromosomal abnormalities
Authors: Wolstenholme J. , Hoogwerf A. M. , Sheridan H. , Maher E. J. , Little D. J.
Published: March 2007

Placental biopsy was performed on 81 patients at greater than 16 weeks' gestation. The major indication for such biopsies was an increased risk of chromosomal abnormality because of either abnormal ultrasound findings or late presentations for advanced maternal age. Six abnormal karyotypes resulting in elective termination were found. The use of rapid karyotyping by this procedure as an alternative to amniocentesis or fetal blood sampling is discussed.
Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS, amnion‐ and placental culture
Authors: Eiben Bernd , Hansen Susanne , Knipping Jutta , Massenberg Regina , Goebel Richard , Hammans Wilhelm
Published: March 2007

Chorionic villus samples from a healthy pregnant female were obtained for first‐trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY,+mar was found.
Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery
Authors: Herens C. , Pierquin G. , Verloes A. , Schaaps J. P. , Frederic J.
Published: March 2007

A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40‐year‐old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.
Triploidy: Pregnancy complications and clinical findings in seven cases
Authors: Graham John M. , Rawnsley Eileen F. , Simmons G. Millard , Wurster‐Hill Doris H. , Park Jonathan P. , Marin‐Padilla Miguel , Crow Harte C.
Published: March 2007

Seven cases of triploidy were encountered by the Prenatal Diagnosis Program at Dartmouth–Hitchcock Medical Center over an 8‐year period through associated pregnancy complications. We describe the characteristic findings that facilitate prenatal diagnosis and management. Our experience includes fetuses with major central nervous system abnormalities (spina bifida aperta, holoprosencephaly) and anterior abdominal wall defects, which are detectable with routine prenatal diagnostic screening examinations (ultrasound and AFP). In addition, we stress the importance of recognizing obstetric complications and associated cystic placental changes, which are quite common among triploid conceptuses. Molar changes associated with triploidy have a more benign prognosis than that associated with diploid moles. Such molar changes may relate to the presence of a diploid paternal chromosome complement. The usefulness of cytofluorometric DNA determinations in helping to confirm a clinical suspicion of triploidy is emphasized. These cases are presented in an effort to facilitate prenatal recognition and management of this common cytogenetic condition and prevent unnecessary Caesarean section deliveries.
Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated?
Authors: Kulkarni R. , Hawkins J. , Bradford W. P.
Published: March 2007

45,X/46,XX True mosaicism was found in the amniotic fluid cell culture study in our patient and was confirmed by rapid fetal blood karyotyping. Elective termination of the pregnancy revealed a morphologically normal female fetus with true mosaicism but no features of Turner's syndrome.
A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis
Authors: Juan J. L. Carrasco , Gómez A. Otero , Mesa M. C. Vilar , Miranda J. L. García , Luque J. M. Troyano , Ruiz O. Morales , Hernández J. Parache
Published: March 2007

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.
Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes
Authors: Raux‐Demay M. , Mornet E. , Boue J. , Couillin P. , Oury J. F. , Ravise N. , Deluchat C. , Boue A.
Published: March 2007

The results of early prenatal diagnoses of congenital adrenal hyperplasia are reported. The determination of 17‐hydroxyprogesterone values in amniotic fluid taken transabdominally at 11 weeks of gestation enabled prenatal diagnosis of congenital adrenal hyperplasia due to 21‐hydroxylase (21‐OH) deficiency. There is a clear‐cut difference between normal and pathological values at that time of pregnancy. This method of diagnosis can be combined with genotyping of the fetus by HLA‐DNA probes on chorionic villus sampling or can be used alone. Prenatal diagnosis with a 21‐OH probe is possible when a preliminary study has demonstrated that the index case is homozygous for the deletion.
Transabdominal chorionic villus sampling in the second trimester of pregnancy: Feto‐maternal transfusions in relation to pregnancy outcome
Authors: Los F. J. , Pijpers L. , Jahoda M. G. J. , Sachs E. S. , Reuss A. , Hagenaars A. M. , Wladimiroff J. W.
Published: March 2007

Volumes of feto‐maternal transfusions (FMTs) in transabdominal chorionic villus sampling (TACVS) in the second trimester of pregnancy were calculated from the difference between maternal alpha‐fetoprotein (AFP) concentrations before and 1 h after TACVS. In 50 pregnancies, there existed no correlation between FMT volume and the amount of villi collected or the number of TACVS attempts. The expected risk of fetal exsanguination due to very voluminous FMT could not be substantiated. In one case, immunization could have been the cause of hydrops fetalis, although only a volume of 0.15 ml could be calculated.
First‐trimester prenatal diagnosis of aspartylglucosaminuria
Authors: Aula P. , Mattila K. , Piiroinen O. , Ämmälä P. , von Koskull H.
Published: March 2007

Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at‐risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.
Evaluation of transcervical chorionic villus sampling with a completed follow‐up of 1550 consecutive pregnancies
Authors: Jahoda M. G. J. , Pijpers L. , Reuss A. , Los F. J. , Wladimiroff J. W. , Sachs E. S.
Published: March 2007

Data from 1550 consecutive pregnancies after first‐trimester prenatal diagnosis by transcervical chorionic villus sampling (TC‐CVS) are presented. The sampling efficacy was 97.8 per cent; the mean amount of collected villus tissue was 23 mg (range 5–100 mg). There were 97 affected fetuses, mainly (73.2 per cent) with a chromosomal abnormality or a male karyotype in carriers of X‐linked disease. Pregnancy termination in these and four other women for social reasons resulted in 1449 continuing pregnancies. In these pregnancies, the fetal loss rate up to 28 weeks of gestation was 5.1 per cent with the highest loss rate (3.9 per cent) before 16 weeks. When relating this fetal loss rate to maternal age, this was 6.1 per cent in the advanced maternal age group (⩾36 years) against 3.1 per cent in the younger age group. In 1376 pregnancies continuing beyond 28 weeks, the perinatal mortality rate was 1.1 per cent; the percentage of non‐genetic congenital anomalies was 0.9 per cent.

The reproductive pattern of women at high genetic risk after CVS followed by pregnancy termination was evaluated. Within 12 months after the first CVS followed by pregnancy termination, 70 percent of women again requested CVS in a subsequent pregnancy.
Chromosome mosaicism of the placenta—a cause of developmental failure of the fetus?
Authors: Schwinger E. , Seidl Esther , Klink F. , Rehder Helga
Published: March 2007

Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clinical data indicate that severe developmental retardation in the newborn is not to be expected if only the placenta carries the chromosomally abnormal cell line.
Subarachnoid cyst with hydrocephalus–a complication of mid‐trimester amniocentesis
Authors: Chong S. K. F. , Levitt G. A. , Lawson J. , Lloyd U. , Newman C. G. H.
Published: March 2007

We report a child with a subarachnoid cyst with hydrocephalus following a mid‐trimester amniocentesis. Although fetal trauma is a rare complication, it is important to stress the need to perform amniocentesis under ultrasound control. Children with neurological disease or convulsions of unknown origin in early infancy who are born to mothers who have had midtrimester amniocentesis should have a CT scan as part of the investigations to exclude this rare but nevertheless important complication.
Anhydramnios and cessation of fetal growth in a pregnant mother with polychemotherapy during the second trimester
Authors: Fernandez Hervé , Diallo Alpha , Baume Daniel , Papiernik Emile
Published: March 2007

This paper discusses the case of a pregnant woman with polychemotherapy during the second trimester of pregnancy for rhabdomyosarcoma of the face and cessation of fetal growth with disappearance of amniotic fluid after the first course of therapy.
Pure fetal blood samples obtained by cordocentesis: Technical aspects of 322 cases
Authors: Boulot P. , Deschamps F. , Lefort G. , Sarda P. , Mares P. , Hedon B. , Laffargue F. , Viala J. L.
Published: March 2007

Three hundred and twenty‐two percutaneous umbilical blood samplings were performed over 4 years in our prenatal diagnostic centre. A 3·5 MHz sector ultrasound transducer was used to guide a 22·5‐gauge needle under local anaesthesia. Sampling was performed fcir rapid fetal karyotyping (within 72 h) in 120 cases, for diagnosis of fetal toxoplasmosis in 133 cases, for determination of the severity of Rh immunization in 15 cases, and for diagnosis of congenital rubella in 4 cases. Pure fetal blood was obtained in 98·7 per cent of the cases after two attempts. The approach to the cord was either transamniotic or trans‐piacental. Puncturing was preferentially done at the placental insertion of the cord (72·2 per cent of the cases) and the mean blood sample volume was 3·5 ml. The rate of fetal death in utero was 1 9 per cent, including two cases of amnionitis, one trisomy 18, and one severe bradycardia. The failures were due to sampling at an early stage of pregnancy (before gestation week 18), to maternal obesity, oligohydramnios, and the inexperience of the operator.
Prenatal diagnosis for psychological reasons: Comparison with other indications, advanced maternal age and known genetic risk
Authors: Sjögren Berit , Uddenberg Nils
Published: March 2007

In Sweden, about 20 per cent of women undergoing prenatal diagnosis (PND) have the test for‘psychological reasons’, which means that they strongly fear giving birth to a disabled child, but have not reached the age limit. Women undergoing amniocentesis or chorionic villus biopsy for these reasons (n = 38) were studied by questionnaires with regard to distress during test procedures. They were compared to women examined because of a known or strongly suspected high risk of giving birth to a congenitally disabled child (n = 27) and to women examined because of an age more than 37 years (n = 144). The most distressed were women who had a high genetic risk. The women who had the test because of their age reported less distress. Women examined for psychological reasons, were moderately distressed, but reported the highest frequency of influence by the distress on their daily living. Women in all groups, however, felt a similar support by the normal test result and reported the whole procedure as rather easy. Different psychological determinants of anxiety of giving birth to a disabled child are discussed. The‘psychological indication’ for PND means that the women' s private interpretation of her risk, and not only the statistical limit, motivates PND.
Sister chromatid exchanges in first‐trimester chorionic villi after in vivo and in vitro exposure to diagnostic ultrasound
Authors: Carrera Paola , Orsini Silvano , Terzoli Gianluigi , Brambati Bruno , Simoni Giuseppe
Published: March 2007

A study was done to evaluate the effects of diagnostic ultrasound on sister chromatid exchange (SCE) in first‐trimester chorionic villi under controlled technical conditions. Chromosome analysis was performed by the direct method using spontaneous mitoses from the cytotrophoblast layer, and SCE visualization was accomplished by a 72 h treatment with 5‐bromodeoxyuridine (BrdU) at a concentration of 10μg/ml. The slides were stained with ac ridine orange. Immediately before first‐trimester chorionic villus sampling, a group of ten pregnant women was exposed to diagnostic ultrasound for 20min (in vivo exposure). This group of patients was compared with a control group who were not exposed. A mean value of SCE/cell frequency of 4·2 ± 0·2 was found in the exposed pregnancies, while a value of 3·7 ± 0·2 was observed in the control group. After in vitro exposure of chorionic villi obtained from elective abortions, the frequency of SCE/cell did not differ significantly among samples with different exposures (1,2, and 3 h) and controls. The positive control (mitomycin C) yielded a significant increase in SCE frequency.
Primary prevention of neural tube defects with folic acid supplementation: Cuban experience
Authors: Vergel R. G. , Sanchez L. R. , Heredero B. L. , Rodriguez P. L. , Martinez A. J.
Published: March 2007

Folic acid (5 mg) was given daily, for not less than one menstrual period before conception and until the tenth week of pregnancy, to 81 women (FS) with a history of a previous neural tube defect (NTD) birth. There was no NTD recurrence among this group or among the offspring of a further 20 women (PS) whose folic acid supplementation fell short of the full regime. In another 114 women who became pregnant without folic acid supplementation (US), there were four NTD recurrences (3.5 per cent). Our results suggest that folic acid supplementation might be an effective method of primary prevention of neural tube defects.
Multicystic dysplastic kidney: Natural history of prenatally detected cases
Authors: Duncan Jeffrey S. , Fernandez Martha T. , Abbitt Patricia L. , Thiagarajah Siva , Howards Stuart S. , Hogge W. Allen
Published: March 2007

To delineate the natural history of fetal multicystic dysplastic kidneys (MDKs), all cases that were prenatally detected in the Prenatal Diagnosis Center of the University of Virginia from September 1985 to 31 August 1988 were reviewed. All patients were followed through the Center with serial ultrasound evaluations at approximately 4‐week intervals, and each liveborn infant was evaluated and followed by one of the authors (S.S.H.)

Of the 14 cases detected, ten were detected in the second trimester, the earliest at 16·5 weeks' gestation. Of the nine fetuses with non‐lethal disease, there were two cases in which the lesion remained unchanged during observation. Both had an initial diagnosis in the third trimester. In those cases diagnosed in the second trimester (7), all showed an initial increase in the size and number of cysts, followed by involutional changes either in utero (2) or in the neonatal period (3). Two infants had immediate surgical removal of the MDK, one because of respiratory compromise, and the other because of an uncertain diagnosis on renal scan.

Abnormalities of the contralateral kidney were found in 7 of 14 fetuses. Five were lethal conditions. Associated non‐renal abnormalities were common in bilateral MDK (80 per cent), but rare in unilateral MDK (11 per cent).
The value of early third‐trimester maternal serum alpha‐fetoprotein determination
Authors: O'Brien William F. , Sternlicht Deborah , Torres Carol , Knuppel Robert A. , Montenegro Raul
Published: March 2007

The value of determination of maternal serum of alpha‐fetoprotein (MSAFP) concentration in i he second trimester is well established. In addition to open neural tube defects, pregnancies associated with elevated second‐trimester MSAFP have been shown to be at increased risk for a variety of problems, including low birth weight, preterm delivery, and pregnancy‐induced hypertension (PIH). We evaluated the potential usefulness of MSAFP in the early third trimester. MSAFP concentration was determined in over 200 women at the time of glucose screening. Results were analysed with regard to gestational age at sampling, maternal weight, race, diabetes, and presence of twins. MSAFP was twice as high in twin gestation, but not affected by race or the presence of diabetes. In contrast to levels in early gestation, third‐trimester MSAFP does not appear to be predictive of preterm delivery, low birth weight, or PIH.
Prenatal diagnosis of intrapericardial teratoma
Authors: Alegre M. , Torrents M. , Carreras E. , Mortera C. , Cusí V. , Carrera J. M.
Published: March 2007

A case of intrapericardial teratoma diagnosed by ultrasound before birth is described. Planning for delivery and immediate neonatal intensive management allowed successful cardiac surgery, full resection of the tumour and full recovery.
Applicability of 19–DEJ‐l monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa
Authors: Fine Jo‐David , Holbrook Karen A. , Elias Sherman , Anton‐Lamprecht Ingrun , Rauskolb Rüdiger
Published: March 2007

Recently a monoclonal antibody (19–DEJ‐l) was produced with binding specificity for the mid‐lamina lucida of the skin dermoepidermal junction, in very close association with overlying hemidesmosomes. Since skin cleavage occurs within the lamina lucida in the inherited blistering disorder, junctional epidermolysis bullosa (EB), and is associated with aberrations in the morphology and/or number of hemidesmosomes in such tissue, we have sought to determine whether this monoclonal antibody could be used for prenatal diagnosis. Fetoscopy‐directed skin biopsies were obtained from two fetuses at risk for junctional EB and post‐mortem samples from two other fetuses with the Herlitz type of junctional EB, the latter after prenatal diagnosis by electron microscopy and termination of each pregnancy. Specimens were examined in part by light and electron microscopy for evidence of skin cleavage or other alterations in morphology, and in part by indirect immunofluorescence for altered basement membrane antigenicity. Three of four fetuses were shown to have intra‐lamina lucida blister formation indicative of, and hemidesmosome hypoplasia proving, junctional EB. Each was also shown to lack expression of GB3 and 19–DEJ‐l antigens, consistent with findings noted postnatally in junctional EB; diagnosis was confirmed in each at the time of therapeutic abortion. A fourth fetus had no abnormalities detected; lack of disease involvement was confirmed at the time of delivery, and subsequently over 8 months of careful serial evaluation. We conclude that 19–DEJ‐l monoclonal antibody is an accurate and sensitive irnmunohistochemical probe for junctional EB, and may be employed in the prenatal diagnostic evaluation of fetuses at risk for this disorder.
First‐trimester maternal serum biochemical indicators in Down syndrome
Authors: Brock D. J. H. , Barron Lilias , Holloway Susan , Liston W. A. , Hillier S. G. , Seppala M.
Published: March 2007

A set of 21 early maternal serum samples (19 first‐trimester and two at 14 weeks) from pregnancies resulting in a child with Down syndrome was matched for gestation and length of storage with 63 samples from unaffected pregnancies. The concentrations of alpha‐fetoprotein (AFP), unconjugated oestriol (uE3), human chorionic gonadotrophin (hCG), pregnancy‐specific β1–glycoprotein (SP1), and placental alkaline phosphatase (PALP) were measured. The ratios of the medians for Down syndrome pregnancies compared with the medians for controls were AFP 0·71, uE3 0·67, hCG 1·43, SP1 0·79, and PALP 0·92. Although the differences between the medians for affected and unaffected pregnancies were not significant, the trends for AFP, uE3, and hCG confirm earlier findings on first‐trimester samples.
Prenatal diagnosis of trisomy for the distal two‐thirds of the long arm of chromosome 14 (q21→qter)
Authors: Duckett D. P. , Roberts E. , McKeever P. , Young I. D.
Published: March 2007

A de novo case of ‘pure’ trisomy 14q21 → qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25–year‐old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond the first trimester. The infant apipeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14.
Prenatal ultrasonographic diagnosis of radial‐ray reduction malformations
Authors: Brons Jozien T. J. , Van Der Harten Hans J. , Van Geijn Herman P. , Wladimiroff Juri W. , Niermeuer Martinus F. , Lindhout Dick , Stuart Patricia A. , Meijer Chris J. L. M. , Arts Nico F. Th
Published: March 2007

Radial‐ray reduction malformations (RRRMs) may occur isolated or in association with other anomalies. The data of seven fetuses born with RRRMs were collected. Six fetuses had associated lethal abnormalities of the central nervous system, urogenital system, and/or heart, detected by ultrasound. In five cases, it was possible to establish the precise diagnosis, enabling an informed prognosis and subsequent genetic counselling. The diagnoses were: Edwards syndrome (n=3), VACTERL association (n=1), and Poland‐Moebius‐like complex (n= 1). In two cases, a complete diagnosis was not possible because of inadequate evaluation of these fetuses before and/or after birth. A proposal is given for the diagnostic approach for infants with RRRMs detected in the antenatal period by means of ultrasonography.
Glycine/serine ratio and the prenatal diagnosis of non‐ketotic hyperglycinaemia
Authors: Parvy P. , Rabier D. , Boue J. , Saudubray J. M. , Kamoun P.
Published: March 2007

We describe our experience of prenatal diagnosis of non‐ketotic hyperglycinaemia in four at‐risk pregnancies using the glycine/serine ratio in amniotic fluid obtained between 18 and 20 weeks of gestation. All glycine levels were in the normal range. Serine levels were normal in two patients and borderline in the others. Glycine/serine ratios were normal in two patients, moderately increased in one patient ( + 3 SD), and highly increased in one patient ( + 8 SD). All the children were perfectly normal at birth. Because of this false‐positive prediction and the false‐negative prediction recently reported, we suggest that this unreliable method should not be used.
Ultrasonographic and biochemical abnormalities associated with the prenatal diagnosis of epignathus
Authors: Smart P. J. , Schwarz C. , Kelsey A.
Published: March 2007

A case of epignathus, detected prenatally in a 20‐week fetus, is described. The pathological features are discussed in relation to the biochemical and ultrasonographic findings.
Sex chromosome mosaicism not detected at amniocentesis
Authors: Roland B. , Cox D. M. , Rudd N. L.
Published: March 2007

Amniocentesis was performed because of a fetal abdominal wall defect, and a 45,X karyotype was obtained. A near‐normal male infant with no features of Turner syndrome was delivered. The karyotype of the infant was 45,X/46,X, dic(Y)(q11), with each of the cell lines present in approximately 50 per cent of the lymphocytes and fibroblasts examined.
Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation
Authors: Stripparo L. , Buscaglia M. , Longatti L. , Ghisonl L. , Dambrosio F. , Guerneri S. , Rosella F. , Lituania M. , Cordone M. , De Biasio P. , Passamonti U. , Gimelli G. , Cuoco C.
Published: March 2007

Between May 1987 and November 1988, 505 early amniocentesis within the 15th week of gestation were performed at the First Department of Obstetrics and Gynaecology,‘L. Mangiagalli’ of the University of Milan and at the Department of Obstetrics and Gynaecology of ‘Gaslini’ hospital in Genoa. A total number often abnormal fetal karyotypes were diagnosed. In addition, one case of pseudomosaicism (not confirmed on fetal blood) and one case of osteogenesis imperfecta type II (observed at ultrasound examination) were also detected. Eleven pregnancies were therefore terminated because of an abnormal fetus. Out of 494 pregnancies (excluding terminated pregnancies) there were 16 fetal losses within the 28th week; ten of these occurred in the 2 weeks following the procedure. There were 475 live‐births, of which 447 were term deliveries and the other 28 deliveries occurred before the 37th week of gestation.
Prenatal diagnosis of del(15)(q11q13)
Authors: Le Bris‐Quillevere M. J. , Riviere D. , Pluchon‐Riviere E. , Chabaud J. J. , Parent P. , Volant A. , Boog G.
Published: March 2007

A case of del(15)(q11q13) was detected in amniotic fluid cell cultures and confirmed by cordocentesis in a 27‐year‐old woman with a low maternal serum alpha‐fetoprotein level. The fetus was shown to have a short femoral length on ultrasonography. This structural chromosome abnormality associated with the prenatal ultrasonographic findings and the morphological characteristics visualized after termination of pregnancy strongly suggest Prader‐Willi syndrome.
The risks of early cordocentesis (12–21 weeks): Analysis of 500 procedures
Authors: Orlandi F. , Damiani G. , Jakil C. , Lauricella S. , Bertolino O. , Maggio A.
Published: March 2007

Five hundred cordocenteses were performed between 12 and 21 weeks. The indications were thalassaemia (386), rapid karyotyping (97), feto‐maternal allo‐immunization (10), rubella (6), and toxoplasmosis (1). One hundred and ten pregnancies underwent termination on the basis of the result, while 20 of the 370 pregnancies intended to continue were lost to follow‐up. Amongst these were 16 fetal losses (4·3 per cent) and 22 premature deliveries (5·9 per cent); no other complications were reported. Four adverse prognostic factors were identified: (a) cord bleeding; (b) fetal bradycardia; (c) prolonged procedure time; and (d) anterior insertion of the placenta. There was no‘obvious’ difference in fetal loss rate with advancing gestation until 19–21 weeks, when the risk of fetal loss decreased to 2·5 per cent.