bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of the fragile X syndrome using fetal blood and amniotic fluid
Authors: Webb T. P. , Rodeck C. H. , Nicolaides K. H. , Gosden C. M. 
Published: March 2007

AbstractNineteen pregnancies at risk for the Martin–Bell syndrome have been monitored during the second trimester for the presence of the fragile Xq27. Of the 19 potential carrier mothers, 14 showed the presence of the fragile X in their lymphocytes at a level of 4 per cent or above. As one was a twin pregnancy, fetal blood was obtained at fetoscopy from 20 fetuses and amniotic fluid obtained simultaneously from 19 of them. Of the 20 fetuses, 18 were males (including both of the twins) and two were females. Of these 18 males, seven were found to carry the fragile Xq27 in lymphocytes and subsequently six of the seven were terminated. The diagnosis was confirmed in five of the six terminated fetuses (the sixth case was a patient whose pregnancy was terminated abroad) and also in a full‐term male baby. Five of the seven males without the marker X who came to term had their karyotypes confirmed post natally. Of the two female fetuses one was found to be a carrier of the fragile X and the other was not. Both babies had full‐term deliveries and both had their karyotypes confirmed post natally. In some cases the diagnosis made in fetal lymphocytes was confirmed later in amniocytes.
Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality
Authors: Holmes‐Siedle M. , Ryynanen M. , Lindenbaum R. H. 
Published: March 2007

AbstractIn the period of a retrospective study (1979–1984 inclusive) forty cases of sex chromosome aneuploidy were identified at amniocentesis in Oxford, England and in Kuopio, Finland; 25 of these pregnancies were subsequently terminated. A decision to continue was made more often for XYY and XXX karyotypes, by older mothers and older fathers, by couples with more previous children, and by couples living in England. A decision to terminate was made more often for XXY and non‐mosaic 45,X karyotypes, by younger mothers and younger fathers, by couples with few previous children, in all cases with abnormal ultrasound findings, when post‐amniocentesis counselling was given by an obstetrician, and by couples living in Finland. Previous miscarriages, or terminations of pregnancy, previous problems with infertility, marital status, or the type of counselling given before amniocentesis, appeared not to influence a couples' decision. Religious and ethical ideas were not studied systematically at the time and cannot be reported on.
Prenatal diagnosis of chronic granulomatous disease (CGD) in four high risk male fetuses
Authors: Huu Trung Pham , Dumez Yves , Marquetty Claude , Durandy Anne , Boue Joëlle , Hakim Jacques 
Published: March 2007

AbstractPrenatal diagnosis of chronic granulomatous disease (CGD) was performed in four male high risk fetuses. The male sex was previously determined by an amniotic cell karyotype. Three kinds of test were performed on fetal blood obtained by umbilical venous puncture under fetoscopy at the 20th gestational week: nitroblue tetrazolium reduction (NBT) cytochemical test with phorbol myristate acetate (PMA) as activator; luminol enhanced chemiluminescence with activation by serum opsonized zymosan (STZ) or PMA; superoxide anion (0) production by measurement of the superoxide dismutase inhibitable reduction of cytochrome c with PMA as activator.Results were compared to those obtained in six fetuses investigated for other inherited diseases. In one case, absence of granulocyte defects was confirmed at birth. In three other cases, the tests showed deficient metabolic oxidative granulocytes. The pregnancy was terminated and the CGD diagnosis was confirmed on the products of abortion. The use of three different techniques performed on whole blood for CGD prenatal diagnosis is recommended instead of a single isolated test to ensure a higher confidence in the diagnosis.
Revised estimates and projections of down syndrome births in the United States, and the effects of prenatal diagnosis utilization, 1970–2002
Authors: Goodwin Beth A. , Huether Carl A. 
Published: March 2007

AbstractThe objectives of this study were to: (1) calculate revised estimates and projections of United States annual Down syndrome (DS) births for 1970–2002, and (2) estimate the effects of amniocentesis on these baseline DS birth projections. Three models of amniocentesis utilization among 30–34 and ≧ 35‐year‐old women were considered. The recently revised Census Bureau birth projections, and new single year maternal age DS risk rates estimated from a 1970–1983 Ohio data set, were used. Data from all three Census Bureau projection series were analysed; series II was considered in depth since it is consistent with recent fertility levels.Assuming no use of amniocentesis, total estimated DS births dropped from about 4770 in 1970 to 4120 in 1980 (a 14 per cent decline), but are projected to a plateau of about 5100 by the year 1990 (a 24 per cent increase). DS births to women ≧ 35 would increase dramatically from about 1050 in 1980 to 1900 in 2000 (an 81 per cent increase). Assuming 1983 Ohio prenatal diagnosis ratios for women aged 30–34 (1.7 per cent) and ≧ 35 (23.4 per cent) are used nationally, an annual reduction of about 7 per cent of DS births in 1986 and 9 per cent in 2002 would result. Fifty and 70 per cent utilization among women 30–34 and 235, respectively, would reduce DS births by about 33 per cent in 1986 and 38 per cent in 2002. Therefore, if the projected increase in DS births is to be averted, utilization of prenatal diagnosis by ≧ 30‐year‐old women must increase substantially.
Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi
Authors: Kleijer W. J. , Iiussaarts‐Odijk L. M. , Sachs E. S. , Jahoda M. G. J. , Niermeijer M. F. 
Published: March 2007

AbstractSix pregnancies of three carriers for X‐linked Fabry's disease, were monitored by chromosome and enzyme analysis. Two affected male fetuses were detected by the demonstration of α‐galactosidase deficiency in amniotic fluid cells and chorionic villi respectively. The use of chorionic villi enabled a diagnosis within a few hours after sampling in the ninth week of pregnancy whereas the use of amniotic fluid cells in the earlier case required two weeks of culturing after amniocentesis in the 16th week.Four female fetuses were found; heterozygosity was demonstrated in one by analysis of clones in the primary amniotic fluid cell culture.
First trimester studies of A fetus at risk for triose phosphate isomerase deficiency
Authors: Dallapiccola B. , Novelli G. , Cuoco C. , Porro E. 
Published: March 2007

AbstractA first trimester prenatal diagnosis was offered to a mother whose child had died of haemolytic anaemia and multisystem disease caused by TPI deficiency. The deficiency state was characterized by greatly reduced TPI activity in both erythrocytes and peripheral lymphocytes. Specific activity of TPI in trophoblast homogenates from the index fetus was about 30 per cent less than in the controls, but the heat stability test showed overlap. These data were confirmed in uncultured and cultured amniotic cells, where glycolytic intermediate concentrations DHAP, GAP and FDP fell in the range of controls. These results suggested that the fetus was a TPI heterozygote. This prenatal prediction was confirmed by RBC and haematological studies at birth.
Prenatal diagnosis of thalidomide syndrome
Authors: Gollop T. R. , Eigier A. , Neto J. Guidugli 
Published: March 2007

AbstractA case of thalidomide syndrome diagnosed by ultrasound in the 17th week of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy.
A simple technique for obtaining high quality chromosome preparations from chorionic villus samples using FdU synchronization
Authors: Gibas Longina M. , Grujic Slobodan , Barr Marie A. , Jackson Laird G. 
Published: March 2007

AbstractA fluorordeoxyuridine (FdU) synchronization technique was applied to 30 chorionic villus samples (CVS) from patients undergoing first trimester fetal diagnosis. The villi were incubated for 15 h in the presence of FdU. The block in DNA synthesis was subsequently released using thymidine and after an additional 5 h of incubation the mitotic cells were arrested in metaphases using a high concentration of colcemid.This method results in improved morphology of the chromosomes and a high mitotic index. A diagnostic chromosome analysis could be obtained in each clinical case using at least 15 well‐spread metaphases. G‐banded karyotypes were prepared of four metaphases in each case. The diagnostic procedure was completed within 48 h from the time of CVS. Use of this technique significantly improves the success rate of ‘direct’ chromosome analyses from CVS in a busy cytogenetic laboratory.
Chorionic villus sampling: Improved method for preparation of karyotypes after short‐term incubation
Authors: Terzoli G. L. , Lalatta F. , Gilbert F. 
Published: March 2007

AbstractA method for the isolation and trypsin‐Giemsa banding of metaphases obtained after short‐term incubation (48 h) of cytotrophoblast cells from chorionic villus sample is described. A new slide‐making instrument, developed expressly to enhance the spreading of chromosomes from metaphases released from small tissue pieces, is responsible for the increase yield of analysable metaphases in this protocol.
Pseudomosaicism for trisomy 13: Three case reports
Authors: Malin Joanne , Singer Niecee , Warburtons Dorothy , Kardon Natalie , Kim Hyon J. 
Published: March 2007

AbstractPseudomosaicism is of particular concern in prenatal diagnosis when it involves mosaicism for a cytogenetic abnormality associated with a clinical syndrome which is compatible with postnatal life, such as trisomies for chromosomes 13, 18, and 21. The lack of data regarding the outcome of pregnancies involving these specific kinds of pseudomosaicism makes genetic counselling difficult. Three cases of prenatal diagnosis of pseudomosaicism for trisomy 13, each of which had a normal outcome, will be presented (Tables 1 and 2). The three main areas for consideration are: (1) the genetic counselling issues, (2) the additional prenatal diagnostic options available to evaluate the status of the fetus in an attempt to identify some of the clinical features of trisomy 13, and (3) the outcome of the pregnancies.
Very low versus undetectable maternal serum alpha‐fetoprotein values and fetal death
Authors: Haddow James E. , Hill Laura E. , Palomaki Glenn E. , Knight George J. 
Published: March 2007

AbstractVery low maternal serum alpha‐fetoprotein (MSAFP) levels (<10 ng/mL) are known to be associated with non‐viable pregnancies, including conditions such as fetal death, molar pregnancies, and non‐pregnancies. There has not been agreement, however, as to whether very low MSAFP levels indicate already existing fetal deaths or are actually predictive. We analysed 230 pregnancies with MSAFP levels <10 ng/mL from among 15 807 women (1.5 per cent) screened consecutively during a three‐year period and identified 26 non‐viable pregnancies, 22 of which were diagnosed sonographically as part of the screening process (17 missed abortions, 3 blighted ova, 2 non‐pregnancies). Furthermore, 20 of these 22 pregnancies were associated with essentially undetectable MSAFP levels (<5 ng/mL). Our data indicate that pregnancies with MSAFP values <5 ng/mL are the group most strongly associated with fetal non‐viability and that very low MSAFP values are not strongly predictive for fetal death.
Prenatal diagnosis of chromosomal abnormalities from chorionic biopsy samples: Improved success rate using a modified direct method
Authors: Metaxotou C. , Antsaklis A. , Panagiotopoulou P. , Benetou M. , Mavrou A. , Matsaniotis N. 
Published: March 2007

AbstractSeveral methods for fetal chromosome analysis using chorionic biopsy samples were compared. A modified direct method for culturing villi was considered to be the method of choice and details are presented of 186 pregnancies tested prenatally. The success rate in obtaining a fetal karyotype with the direct method was 93 per cent. The fetal loss rate in the prenatal series was 4.3 per cent and congenital abnormalities in the babies already born did not differ from the expected incidence.
Chromosome mosaicism and maternal cell contamination in chorionic villi
Authors: Cheung Sau W. , Crane James P. , Beaver Heidi A. , Burgess Ann C. 
Published: March 2007

AbstractWhile chorionic villus sampling allows both early and rapid prenatal diagnosis of chromosome disorders, the accuracy of this technique has not been fully established. Maternal cell contamination and pseudomosaicism represent two major sources of diagnostic error. Combined use of both direct chromosome preparations and villus cultures is important in overcoming these problems. Direct preparations of villus tissue allow recognition of maternal cell contamination of villus cultures. Conversely, villus cultures yield higher resolution chromosomes and may be helpful in differentiating between true versus pseudomosaicism when two or more cell lines are identified in direct chromosome preparations. Preliminary data suggest that analysis of direct preparations from multiple individually processed villus fragments may also be of value in this regard. Until more experience is gained, mid‐trimester amniocentesis should be offered to CVS patients when mosaicism is encountered.
Fibrinopeptide a increases after Chorionic villus sampling
Authors: Al‐Gailani F. , Elias S. , Simpson J. L. , Green D. 
Published: March 2007

AbstractFibrinopeptide levels were measured in 20 women during transcervical chorionic villus sampling (CVS). Fibrinopeptide A, a sensitive indicator of fibrinogen cleavage by thrombin, significantly increased in five subjects, whereas there was no change in Bβ peptide, an indicator of fibrinolysis. The data suggest that modest fibrin formation, uncompensated by fibrinolysis, may be induced in some women by CVS.
First trimester diagnosis of adenosine deaminase deficiency
Authors: Dooley T. , Fairbanks L. D. , Simmonds H. A. , Rodeck C. H. , Nicolaides K. H. , Soothill P. W. , Stewart P. , Morgan G. , Levinsky R. J. 
Published: March 2007

AbstractAdenosine deaminase deficiency has been detected in the first trimester by direct analysis of enzyme activity in chorionic villi in a pregnancy at risk. Data for purine nucleoside phosphorylase activity in chorionic villi from healthy controls in the first trimester are also presented and should allow equally rapid diagnosis of this disorder.
The value of chromosome analysis in cases of neural tube defects: A case of anencephaly associated with fetal DUP(2) (p24→pter)
Authors: Singer Niecee , Gersen Steven , Warburton Dorothy 
Published: March 2007

AbstractA family is described in which two anencephalic fetuses were identified in two pregnancies. Autopsy revealed kidney anomalies in both fetuses. Chromosome analysis was performed only on the second fetus, which had a 46,XY,lOq+ karyotype. Parental chromosome analysis showed the maternal karyotype to be 46,XX,t(2;10) (p24;q26) thus demonstrating that the fetus was carrying a duplication 2(p24→pter).Recurrence risks for anencephaly based on the cytogenetic abnormality were much higher than those which would be quoted for isolated anencephaly. This points out the necessity for complete diagnostic studies when a fetus with a neural tube defect is identified.The literature in regard to the 2p duplication phenotype is reviewed. It is possible that the duplication of the distal segment of 2p results in a neural tube defect/kidney anomaly phenotype.
Trisomy 20 mosaicism in prenatal diagnosis–a review and update
Authors: Hsu Lillian Y. F. , Kaffe Sara , Perlis Theresa E. 
Published: March 2007

AbstractA total of 66 cases with prenatal diagnosis of trisomy 20 mosaicism was reviewed. Since the majority of cases (85 per cent) was associated with grossly normal phenotype and the abnormalities noted in 15 per cent of cases were inconsistent and rather non‐specific, no causal relationship between trisomy 20 mosaicism and a specific malformation syndrome can be established. The possiblity of an association between an abnormal phenotype and a high percentage of trisomy 20 cells (> 60 per cent) must be considered preliminary and be viewed with caution. The fact that cells with trisomy 20 have not been recovered from blood cultures and were detected more frequently from specific fetal tissues, (such as kidney, rectum, oesophagus), and from placental tissues, suggests that trisomy 20 is more likely to be confined to certain fetal organs and to extra‐embryonic tissues. This review calls for the collection of more data on all cases of trisomy 20 mosaicism diagnosed prenatally, in order to provide more accurate information to the prospective parents.
Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities
Authors: Bogart Mark H. , Pandian M. R. , Jones O. W. 
Published: March 2007

AbstractThe alpha subunit of human chorionic gonadotropin (alpha‐hCG), human chorionic gonadotropin (hCG) and alpha fetoprotein (AFP) were measured in the serum of 25 women with chromosomally abnormal fetuses between 18 and 25 weeks of gestation and in 74 normal pregnancies. AFP levels less than 0.5 multiples of the median (MoM) or greater than 2.5 MoM were observed in 24 per cent of the abnormal pregnancies and in 6.76 per cent of the normal pregnancies. A low concentration of hCG (< 0.25 MoM) was observed in 8 per cent of abnormals and in 2.7 per cent of normals while an elevated concentration of hCG (>2.5 MoM) was observed in 56 per cent of abnormals and in 1.35 per cent of normals. Elevated hCG‐alpha (>2.5 MoM) was observed in 28 per cent of abnormals and in none of the normals. Determination of elevated levels of hCG‐alpha or hCG resulted in detection of 68 per cent of pregnancies with chromosomally abnormal fetuses with a false positive rate of 1.35 per cent. Determination of both elevated and depressed gonadotropin levels resulted in detection of 76 per cent of abnormal pregnancies with a false positive rate of 4.05 per cent. Measurement of hCG and hCG‐alpha in maternal serum samples can be used as a screening procedure for detecting pregnancies at risk for fetal chromosome abnormalities.
Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia
Authors: Morse Richard P. , Rawnsley Eileen , Sargent Steven K. , Graham John M. 
Published: March 2007

AbstractMarkedly decreased fetal activity (akinesia/hypokinesia) is usually readily apparent to experienced mothers, and frequently this concern leads to attempts at prenatal diagnosis. We report prenatal diagnosis of two fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. Such familial recurrence to phenotypically normal parents suggests a newly recognized autosomal recessive or X‐linked syndrome that is readily detectable by prenatal ultrasonography.
Biamnial elevated alpha‐fetoprotein and positive acetylcholinesterase in twins, one with anencephaly
Authors: Holbrook R. Harold , Krovoza Ann M. , Schelley Susan , Ferguson James E. 
Published: March 2007

AbstractAnencephaly in twin B was accompanied by elevated amniotic fluid alpha‐fetoprotein (AFP) and a positive acetylcholinesterase (AChE) band on gel electrophoresis in both twin sacs, although twin A was normal. AChE results did not help distinguish the false positive AFP in this set of twins, implying that AChE may diffuse transamniotically as has been previously postulated for AFP. In light of the low concordance rate for neural tube defects in twins, patient counselling in this situation must include the information that AFP and AChE may be falsely elevated in normal twin when the other twin has a neural tube defect.
Duration of vaginal bleeding and trisomy at prenatal diagnosis
Authors: Neugut R. H. , Lustenberger A. , Nicholas A. , Kline J. , Warburton D. 
Published: March 2007

AbstractIn the case‐control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appears to predict increased risk of trisorny.
Prenatal sonographic diagnosis of endocardial fibroelastosis secondary to aortic stenosis
Authors: Achiron Reuven , Malinger Gustavo , Zaidel Liliana , Zakut Haim 
Published: March 2007

AbstractEndocardial fibroelastosis is characterized by a diffuse thickening of the left ventricular endocardium with or without other cardiac anomalies. This entity had been diagnosed prenatally previously (Bovicelli et al., 1984) at a gestational age of 36 weeks. A case of endocardial fibroelastosis due to aortic stenosis accompanied by pericardia! effusion, ascites, and hydramnion, diagnosed ultrasonographically and confirmed pathologically at 21 weeks of gestation, is presented.
Prenatal ultrasound diagnosis of macroglossia in the Wiedemann‐Beckwith syndrome
Authors: Cobellis G. , Iannoto P. , Stabile M. , Lonardo F. , Bruna M. Della , Caliendo E. , Ventruto V. 
Published: March 2007

AbstractWe report the ultrasound prenatal diagnosis at the 30th week of macroglossia in two sibs with the Wiedemann‐Beekwith syndrome; the syndrome was also present in their mother. A study of high resolution chromosomes did not show any anomaly.
Prenatal diagnosis of tetrasomy 47,XY, + i(12p) confirmed by in situ hybridization
Authors: Shivashankar L. , Whitney E. , Colmorgen G. , Young T. , Munshi G. , Wilmoth D. , Byrne K. , Reeves G. , Borgaonkar D. S. , Picciano S. R. , Marttn‐Deleon P. A. 
Published: March 2007

AbstractA case of tetrasomy i(12p) detected prenatally is reported. The patient, a black, 33‐year‐old G3P2002 at 24 weeks' gestation with an unremarkable family history presented herself for prenatal care. Ultrasound examination showed a fetus with diminished femoral and humeral lengths, and hydramnios. A level II scan confirmed the presence of an omphalocele.Amniocentesis at 31 weeks showed 47,XY, + i(12p) karyotype. An infant with multiple congenital anomalies was delivered at 34 weeks. The infant died after 5 h.Genetic and ultrasonographic examinations in the third trimester were helpful in the investigation of this fetus with multiple congenital anomalies. The careful, complete team counselling afforded by this approach enabled the mother and family to be well adjusted to the strong possibility (and subsequent reality) of an abnormal infant.
Prenatal evaluation and outcome of fetal obstructive uropathies
Authors: Reuss A. , Wladimiroff J. W. , Scholtmeijer R. J. , Stewart P. A. , Sauer P. J. J. , Niermeijer M. F. 
Published: March 2007

AbstractBetween January 1982 and January 1986, 76 pregnant women between 15 and 40 weeks of gestation were referred because of suspected fetal obstructive urinary tract pathology. A total of 14 high‐level (ureter) and 17 low‐level (urethral) obstructions were diagnosed. High‐level obstructions were at the uretero‐pelvic level in 11 and at the uretero‐vesical level in 3 cases. Increased amniotic fluid volume was observed in 28 per cent. The survival rate was 86 per cent.In the 17 cases of urethral obstruction, oligohydramnios was present in 70 per cent, associated structural defects in 30 per cent, and an abnormal karyotype in 6 per cent. Pregnancy was terminated because of progressive massive hydronephrosis in 41 per cent; intrauterine or neonatal death occurred in 47 per cent, resulting in a survival rate of only 12 per cent.