bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis in a family with X‐linked chronic granulomatous disease with the use of the polymerase chain reaction
Authors: De Boer Martin , Bolscher Ben G. J. M. , Sijmons Rolf H. , Scheffer Hans , Weening Ron S. , Roos Dirk 
Published: March 2007

AbstractIn the X‐linked form of chronic granulomatous disease (X91° CGD), the genetic defect is linked to the CYBB locus on the X chromosome. We studied a family with a genetic defect in this gene, consisting of a G → A substitution at the fifth base of the 5′ donor splice site of intron 3. This mutation leads to skipping of exon 3 after transcription of the gene. The expectant mother was diagnosed as a carrier. Analysis of polymerase chain reaction (PCR)‐amplified genomic DNA from a chorionic villus biopsy (CVB) showed the same mutation in the male fetus. After termination of the pregnancy, the diagnosis was confirmed by conventional methods. This is the first time that PCR has been used for prenatal diagnosis of CGD.
Maternal Serum CA 125 for aneuploidy detection in early pregnancy
Authors: Norton Mary E. , Golbus Mitchell S. 
Published: March 2007

AbstractMaternal serum CA 125 levels were determined at 9–11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups.
Placental biopsy in the third trimester of pregnancy
Authors: Constantine G. , Fowlie A. , Pearson J. 
Published: March 2007

AbstractForty‐two women with abnormal ultrasound findings after 27 weeks' gestation underwent a placental biopsy. In 39 cases, a karyotype was obtained from a direct preparation within 48 h, five abnormal karyotypes being detected (four trisomies and a triploidy). One confirmed placental mosaic was also detected. In one case, a small terminal deletion of chromosome 7 was not detected at the time due to the quality of the preparation. A karyotype can be obtained from a direct preparation in the third trimester in over 90 per cent of cases, the quality of the preparation allowing the reliable detection of abnormalities of chromosome number. We believe that this technique may be usefully, reliably, and safely employed in the third trimester of pregnancy by those with an interest in antenatal ultrasound diagnosis who do not have immediate access to a cytogenetics laboratory and who feel that cordocentesis is inappropriate for their situation.
Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies
Authors: Brambati Bruno , Simoni Giuseppe , Travi Maurizio , Danesino Cesare , Tului Lucla , Privitera Orsola , Stioui Sabine , Tedeschi Silvana , Russo Silvia , Primignani Paola 
Published: March 2007

AbstractTransabdominal chorionic villus sampling (TA‐CVS) was attempted in 328 high‐risk pregnancies at 6–7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high‐resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.
Human chorionic β‐mannosidase: Comparison with β‐mannosidase from human cultured fibroblasts
Authors: Petushkova N. A. , Ivleva T. S. , Vozniy Ya. M. 
Published: March 2007

AbstractThe conditions for assay of β‐mannosidase activity in human chorionic villi (CV) were studied using the fluorogenic substrate 4‐methylumbelliferyl‐β‐D‐mannopyranoside. A comparison of the biochemical properties of the CV β‐mannosidase with those of the enzyme from human cultured fibroblasts showed their similarity. Like the enzyme from skin fibroblasts, the CV β‐mannosidase had rather high activity. Both enzymes had virtually the same pH optimum (4.2‐4.7) and Km value. The data presented suggest that chorion biopsy specimens can be used for prenatal determination of β‐mannosidase activity at an early stage of development.
Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms
Authors: Miedzybrodzka Z. H. , Kelly K. F. , Davidson M. , Little S. , Shrimptons A. E. , Dean J. C. S. , Haites N. E. 
Published: March 2007

AbstractA family carrying two cystic fibrosis mutations, delta F508 and 1717‐1,G→A, requested prenatal diagnosis. In order to eliminate the need for labelling of allele‐specific oligonucleotides and to simplify the analysis, 1717‐1,G→A was detected using an ARMS (amplification refractory mutation system) method (Newton et al., 1989). Fetal DNA was obtained by chorionic villus sampling (CVS) and the ARMS technique was used to exclude the 1717‐1,G→A mutation. The fetus was found to be heterozygous for the delta F508 mutation. ARMS is a simple, quick, non‐radioactive method suitable for detecting DNA mutations in various clinical situations.
A simple electrophoretic procedure for fetal diagnosis of β‐thalassaemia due to short deletions
Authors: Faà V. , Rosatelli M. C. , Sardu R. , Meloni A. , Toffoli C. , Cao A. 
Published: March 2007

AbstractThis study describes three couples a t risk for homozygous β‐thalassaemia in which one of the partners carried a short deletion β‐thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non‐denaturing polyacrylamide gel electrophoresis. This method may be applied to detect β‐thalassaemia mutations due to deletion or addition of more than two nucleotides.
Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization
Authors: Qu Jingyi , Dallaire Louis , Fetni Raouf , Richer Claude‐Lise 
Published: March 2007

AbstractA 45,X/46,Xder(Y) mosaicism detected prenatally was shown to have a rare Y inversion‐ duplication or Y/Y translocation which can only be identified by a combination of high resolution cytogenetics and fluorescence in situ hybridization. The present data indicate the usefulness and importance of chromosome‐specific probes in the identification and characterization of chromosome rearrangements.
Prenatal diagnosis of giant cystic hygroma: Prognosis, counselling, and management; case presentation and review of the recent literature
Authors: Thomas Ronald L. 
Published: March 2007

AbstractCystic hygromas have historically been associated with a grim prognosis when discovered during prenatal sonographic study of the fetus. This same grim prognosis is not observed by the paediatric surgeon who evaluates the neonate or paediatric patient. We present a fetal patient with a massive anterior cystic hygroma discovered in the third trimester prior to 30 weeks. This case and a review of the literature suggest tailoring the prognosis by category when counselling patients: (1) first trimester, normal karyotype‐good; (2) first trimester, abnormal karyotype‐poor; (3) second trimester and early third‐poor to guarded; and (4) mid to late third trimester‐good.
Neonatal alloimmune thrombocytopenia due to anti‐P1A1 (anti‐hpa‐1a): Importance of paternal and fetal platelet typing for assessment of fetal risk
Authors: Lipitz S. , Ryan G. , Murphy M. F. , Robson S. C. , Haeusler M. C. H. , Metcalfe P. , Kelsey H. , Rodeck C. H. 
Published: March 2007

AbstractNeonatal alloimmune thrombocytopenia (NAIT), which usually involves sensitization to P1A1 (HPA‐1a), may have devastating complications for the fetus. These may be prevented by antenatal treatment of severe cases with either maternally administered high‐dose gamma‐globulin and/or repeated intrauterine platelet transfusions. Determination of the paternal platelet phenotype is useful for counselling parents who have had one or more affected pregnancies. This report of an unaffected pregnancy in a woman with a history of previous pregnancies complicated by NAIT illustrates the role of paternal and fetal platelet phenotyping in managing existing pregnancies at risk of NAIT.
Prenatal diagnosis of tetrasomy 12p by in situ hybridization: Varying levels of mosaicism in different fetal tissues
Authors: Blancato J. K. , Hunt M. , George J. , Katz J. , Meck J. M. 
Published: March 2007

AbstractPrenatal diagnosis of tetrasomy 12p is complicated by the discrimination of the 12p isochromosome from the duplication 21q as well as the level of mosaicism demonstrated in the particular tissue sampled. In this disease, a high percentage of chromosomally abnormal cells are generally found in fibroblastic cells, but lymphocyte karyotypes from the same individual may be normal. We report on the pregnancy of a 37‐year‐old female who presented to our centre at 16 weeks' gestation for genetic amniocentesis. Sonography of the fetus revealed dextrocardia and diaphragmatic hernia. Chromosome analysis of amniocytes demonstrated mosaicism of a 47,XY,+i(12p) line in 80 per cent of cells and a normal male line (20 per cent), consistent with the Pallister‐Killian syndrome. Following termination, a 220 g male fetus of 18 weeks was examined. A flattened nose and low‐set ears were noted. In situ hybridization with a chromosome 12 centromeric probe in lymphocytes and skin cells unequivocally confirmed the karyotype and showed the presence of a single centromere in the abnormal chromosome, suggesting a true isochromosome. Chromosome analysis of various fetal tissues was performed and the following percentages of abnormal cells were found: skin 100 per cent, chorion 50 per cent, placenta 30 per cent, and blood 80 per cent. The high frequency of tetrasomic cells in fetal blood at this early gestational age is noteworthy, since most reports of this syndrome show a very low percentage of abnormal cells postnatally.
Fetal granulocytes in maternal venous blood detected by in situ hybridization
Authors: Wessman Maija , Ylinen Kari , Knuutila Sakari 
Published: March 2007

AbstractFetal male cells from maternal venous blood were detected by a non‐radioactive in situ hybridization method using the biotinylated Y‐specific DNA probe pY431. The hybridizations were performed on Ficoll‐Paque‐isolated nucleated blood cells obtained from 11 pregnant women in the seventh to 31st week of gestation. A Y‐specific signal was detected in both granulocytes and lymphocyte‐like cells in seven of the 11 women studied. These women gave birth to boys. In one of the four remaining cases, a Y‐specific signal was detected in the lymphocyte‐like cells but not in the granulocytes. This woman gave birth to a girl. The other three women had no cells with a Y‐specific signal and all three gave birth to girls. Altogether, 83 500 nucleated cells were analysed. One hundred and three cells showed a Y‐specific signal. Of these Y‐specific cells, 62 per cent were granulocytes and 38 per cent lymphocyte‐like cells. Our results suggest that fetomaternal transfer of granulocytes is common and that it occurs as early as in the seventh week of gestation. None of the ten non‐pregnant female control samples showed positive cells with the Y‐chromosome‐specific probe; approximately 97 per cent of the cells from the five adult male controls showed a Y‐specific signal. Our results indicate that in situ hybridization using a Y‐specific DNA probe performed on granulocytes in maternal blood can be used for fetal male sex determination.
Trisomy 16 confined to the placenta
Authors: Post J. G. , Nijhuis J. G. 
Published: March 2007

AbstractTwo cases with trisomy 16 confined to the placenta are presented. Prenatal diagnosis was indicated because of fetal growth retardation. In case 1, a phenotypically normal but small‐for‐date boy was born. In case 2, the fetus turned out to be triploid on cordocentesis. In both instances the trisomy 16 was recovered from the placenta. Recovery indicates that the abnormality was present in the placenta during the time of fetal growth retardation, which supports an aetiological relationship. Strict appliance of the current models cannot readily explain the observed discrepancies. In case 2, a chimeric placenta as a result of a vanishing twin is assumed. Cases of placental trisomy 16 published after 1988 are reviewed. It is concluded that confined placental trisomy 16 can cause intrauterine growth retardation if present in both the direct preparation and the villus culture. The chances of finding a chromosomally abnormal fetus (mosaic trisomy 16, triploidy) after diagnosis of trisomy 16 in chorionic villi are low but warrant further investigations.
The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier
Authors: Uehara Shigeki , Takabayashi Toshifumi , Okamura Kunihiro , Yajima Akira 
Published: March 2007

AbstractIn order to evaluate the relation between chromosomal translocation and the outcome of pregnancy, 50 couples were examined. Subjects consisted of 35 couples that included a reciprocal translocation carrier; 13 included a Robertsonian translocation carrier and 2 included a carrier of a mosaic reciprocal translocation. The reasons for performing chromosomal examinations were mainly infertility and abnormality of neonates. The rates of miscarriages and neonatal abnormalities in prior pregnancies were significantly higher than the birth rate of morphologically normal newborns. The presence of a translocation is closely related to reproductive failure because of the chromosomal imbalance. However, prenatal chromosomal examination after the 15th gestational week in subsequent pregnancies revealed that almost half of the fetuses showed normal karyotypes and only 12.8 per cent of the fetuses showed a chromosomal imbalance. Many chromosomally imbalanced fetuses are spontaneously aborted before amniocentesis. The risk of chromosomal imbalance is relatively low in prenatal diagnosis, but partial trisomies of small rearrangements tend to be preserved.
Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis
Authors: Zeigler M. , Bargal R. , Suri V. , Meidan B. , Bach G. 
Published: March 2007

AbstractCultured amniotic fluid cells from two mucolipidosis type IV (MLIV)‐affected fetuses demonstrated accumulation of phospholipids and gangliosides when compared with normal controls. Like cultured skin fibroblasts from MLIV patients, cultured amniotic cells from the affected fetuses accumulated primarily lyso phospholipids and this could be demonstrated by radioactive labelling with appropriate precursors, either inorganic phosphate or oleic acid. Furthermore, like cultured skin fibroblasts, there was significant retention of exogenously supplied GDIA ganglioside in the affected amniotic cells. This storage was previously demonstrated to be unique to MLIV and thus can be used at present as a specific procedure for prenatal diagnosis of MLIV.
Prenatal diagnosis of distal arthrogryposis type I by ultrasonography
Authors: Bui T.‐H. , Lindholm H. , Demir N. , Thomassen P. 
Published: March 2007

AbstractTwo consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' gestation. The diagnoses were verified at birth. The feasibility of prenatal diagnosis of DA type I in the second trimester is thus confirmed and its possibility in the late first trimester is suggested.
Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak‐Higashi syndrome and variant)
Authors: Durandy A. , Breton‐Gorius J. , Guy‐Grand D. , Dumez C. , Griscelli C. 
Published: March 2007

AbstractWe have successfully undertaken the prenatal diagnosis of two hereditary syndromes associating albinism and immune defects. Because the genes responsible for these diseases have not yet been mapped and the immune abnormalities are too subtle to be diagnosed in utero, the prenatal diagnosis was made using a morphological approach. In the case of Chediak‐Higashi syndrome, it was based on light microscopic examination of the hair shaft and on light and electron microscopic study of polymorphonuclear cells. In the syndrome associating immune deficiency and partial albinism, the Griscelli syndrome, only examination of the hair was feasible. The diagnosis was negative in 12 fetuses at risk and positive in four.
Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein
Authors: Bass Harold N. , Miranda Cheryl , Oei Rudolph , Crandall Barbara F. 
Published: March 2007

AbstractA case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid‐trimester serum and amniotic fluid alpha‐fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha‐fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.
Prenatal diagnosis of congenital cystic adenomatoid lung malformation: A report of seven cases
Authors: Heydanus R. , Stewart P. A. , Wladimiroff J. W. , Los F. J. 
Published: March 2007

AbstractSix cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.
Prenatal sonographic diagnosis of metastatic neuroblastoma: Report of a case and review of the literature
Authors: Jaffa Ariel J. , Many Ariel , Hartoov Joseph , Kupferminc Michael J. , Peyser M. Reuben 
Published: March 2007

AbstractCongenital malignant tumours are rare. Neuroblastoma is the most common solid tumour, accounting for about 30–50 per cent of tumours evident during the neonatal period. A case of metastatic, rapidly growing neuroblastoma, diagnosed prenatally by ultrasound at 32 weeks' gestation, is presented.
Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy‐Walker malformation
Authors: Bureau Y.‐A. , Fraser W. , Fouquet B. 
Published: March 2007

AbstractTrisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy‐Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy‐Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.
A comparison of amniotic fluid alpha‐fetoprotein and acetylcholinesterase in the prenatal diagnosis of open neural tube defects and anterior abdominal wall defects
Authors: Loft Anne Gitte Rasmussen , Høgdall Estrid , Larsen Severin Olesen , Nørgaard‐Pedersen Bent 
Published: March 2007

AbstractAmniotic fluid samples received for routine prenatal diagnosis of open neural tube defects were used for a study to compare amniotic fluid acetylcholinesterase (AChE) determination using a monoclonal antibody (4F19) enzyme antigen immunoassay and amniotic fluid alpha‐fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 9964 women with singleton pregnancies and known outcome (including 6 with anencephaly and 18 with open spina bifida) having an amniocentesis at 14–23 weeks of gestation. The AChE immunoassay yielded detection rates for anencephaly of 100 per cent (95 per cent confidence interval (CI) 54·07–100 per cent), for open spina bifida of 100 per cent (95 per cent CI 81·47–100 per cent), for anterior abdominal wall defects of 20 per cent (95 per cent CI 0‐51‐71‐64 per cent), and a false‐positive rate of 0·22 percent (95 per cent CI 0·14–0·34 per cent) excluding anencephaly, open spina bifida, and anterior abdominal wall defects. For similar detection rates the false‐positive rate of the AFP test was significantly higher, 0·74 per cent (95 per cent CI 0·58–0·94 per cent). On the basis of these findings, it is recommended that the technically simple AChE immunoassay should be used on all samples; the AFP test should only be used on the 0·5 per cent of the samples with concentrations of AChE activity ⩾ 8·5 nkat/1 for clear samples and blood‐stained samples becoming clear after centrifugation, and ⩾ 25·0 nkat/1 for blood‐stained samples that are discoloured after centrifugation; an AFP cut‐off level of 2·0 MOM is recommended for this policy. Thereby, the detection rates for anencephaly, open spina bifida, and anterior abdominal wall defects would be 100, 100, and 20 per cent, respectively (95 per cent CIs 54·07–100, 81·47–100, and 0·51–71·64 per cent, respectively), and the false‐positive rate would be 0·08 per cent (95 per cent CI 0·03–0·16 per cent) (excluding anencephaly, open spina bifida, and anterior abdominal wall defects).
Prenatal diagnosis and management of anterior abdominal wall defects in the West of Scotland
Authors: Morrow R. J. , Whittle M. J. , McNay Margaret B. , Raine P. A. M. , Gibson A. A. M. , Crossley Jenny 
Published: March 2007

AbstractAn attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland over a 7‐year period to determine the current incidence, prenatal diagnosis, management, and prognosis for fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss, or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy. Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed prenatally and terminated. Maternal serum alpha‐fetoprotein was elevated in 89 per cent of the cases with exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was tested.