abstract：:The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...

journal_title：Prenatal diagnosis

authors： Breed AS,Mantingh A,Beekhuis JR,Kloosterman MD,ten Bolscher H,Anders GJ

更新日期：1990-02-01 00:00:00

abstract：:A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. ...

journal_title：Prenatal diagnosis

authors： Ashkenazy M,Lurie S,Ben-Itzhak I,Appelman Z,Caspi B

更新日期：1990-01-01 00:00:00

abstract：:Twins concordant for elevated alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) and discordant for neural tube defect (NTD) and sex are reported. A literature review reveals instances of termination of twin pregnancies with one normal and one abnormal fetus, partly based on concordant high AFP and positive AChE ...

journal_title：Prenatal diagnosis

authors： Johnson VP,Vidgoff J,Wilson N,Madison D

更新日期：1989-12-01 00:00:00

abstract：:An extra small chromosome detected in amniotic fluid was identified as the product of a translocation [46,XX,t(9;15)(p24;q11.2)]. This case is unusual in that individuals with the unbalanced karyotype resulting from a 3:1 disjunction are phenotypically normal. ...

journal_title：Prenatal diagnosis

authors： Winsor EJ,Van Allen MI

更新日期：1989-12-01 00:00:00

abstract：:Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...

journal_title：Prenatal diagnosis

authors： Pircon RA,Towers CV,Porto M,Gocke SE,Garite TJ

更新日期：1989-10-01 00:00:00

abstract：:Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...

journal_title：Prenatal diagnosis

authors： Williamson R,Allison ME,Bentley TJ,Lim SM,Watson E,Chapple J,Adam S,Boulton M

更新日期：1989-10-01 00:00:00

abstract：: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 clini...

journal_title：Prenatal diagnosis

authors： Schwinger E,Seidl E,Klink F,Rehder H

更新日期：1989-09-01 00:00:00

abstract：:Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism--an inconsequential tissue culture artefact; or (2) true mosaicism--occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outco...

journal_title：Prenatal diagnosis

authors： Schwartz S,Ashai S,Meijboom EJ,Schwartz MF,Sun CC,Cohen MM

更新日期：1989-08-01 00:00:00

abstract：:We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that pr...

journal_title：Prenatal diagnosis

authors： Clark RD,Fletcher J,Petersen G

更新日期：1989-05-01 00:00:00

abstract：:Eight pregnancies at risk for cystic fibrosis have been monitored by first-trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM19. In two cases, the region detected by CS.7, another DNA probe tightly linked to the C...

journal_title：Prenatal diagnosis

authors： Gasparini P,Novelli G,Savoia A,Dallapiccola B,Pignatti PF

更新日期：1989-05-01 00:00:00

abstract：: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 matern...

journal_title：Prenatal diagnosis

authors： Eydoux P,Choiset A,Le Porrier N,Thépot F,Szpiro-Tapia S,Alliet J,Ramond S,Viel JF,Gautier E,Morichon N

更新日期：1989-04-01 00:00:00

abstract：:A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed. ...

journal_title：Prenatal diagnosis

authors： Pachì A,Giancotti A,Torcia F,de Prosperi V,Maggi E

更新日期：1989-03-01 00:00:00

abstract：: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 ...

journal_title：Prenatal diagnosis

authors： Qu J,Dallaire L,Lemieux N,Drouin R,Richer CL

更新日期：1989-01-01 00:00:00

abstract：: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 establishi...

journal_title：Prenatal diagnosis

authors： Jauniaux E,Donner C,Thomas C,Francotte J,Rodesch F,Avni FE

更新日期：1988-10-01 00:00:00

abstract：:The relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direc...

journal_title：Prenatal diagnosis

authors： Diukman R,Zeigler M,Bach G

更新日期：1988-09-01 00:00:00

abstract：:Circulating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy-associated plasma protein A (PAPP-A), decidual (pregnancy protein 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic vil...

journal_title：Prenatal diagnosis

authors： Stabile I,Warren R,Rodeck C,Grudzinskas JG

更新日期：1988-06-01 00:00:00

abstract：:Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner'...

journal_title：Prenatal diagnosis

authors： Sjögren B,Uddenberg N

更新日期：1988-05-01 00:00:00

abstract：:Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...

journal_title：Prenatal diagnosis

authors： Schilirò G,Romeo MA,Mollica F

更新日期：1988-03-01 00:00:00

abstract：:In 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 appe...

journal_title：Prenatal diagnosis

authors： Neugut RH,Lustenberger A,Nicholas A,Kline J,Warburton D

更新日期：1987-11-01 00:00:00

abstract：:Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term...

journal_title：Prenatal diagnosis

authors： Knott PD,Colley NV

更新日期：1987-10-01 00:00:00

abstract：:Six cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: 48, + 7, + 18 resp. 47, + 18. 46,i(18q) resp. 46,del18(p11). 46,XX resp. 46,XX/47,XXX. 46,X,Yq+ and 46,XY resp. 46,XY. 46/47, + 12 resp. 46. 46/47, + 5 resp. 46. These di...

journal_title：Prenatal diagnosis

authors： Verjaal M,Leschot NJ,Wolf H,Treffers PE

更新日期：1987-06-01 00:00:00

abstract：:There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...

journal_title：Prenatal diagnosis

authors： Law HY,Stanier P,Williamson R,Modell B,Ward RH,Petrou M,Old J,Farrall M

更新日期：1987-03-01 00:00:00

abstract：:Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...

journal_title：Prenatal diagnosis

authors： Rizzo N,Gabrielli S,Pilu G,Perolo A,Cacciari A,Domini R,Bovicelli L

更新日期：1987-02-01 00:00:00

abstract：:Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained wi...

journal_title：Prenatal diagnosis

authors： Warner TG,Turner MW,Toone JR,Applegarth D

更新日期：1986-11-01 00:00:00

abstract：:Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of beta hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 gangliosidosis (AOG) with severe HEX A deficiency. A...

journal_title：Prenatal diagnosis

authors： Navon R,Sandbank U,Frisch A,Baram D,Adam A

更新日期：1986-05-01 00:00:00

abstract：:A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of perip...

journal_title：Prenatal diagnosis

authors： Kim HJ,Perle MA,Bogosian V,Greco A

更新日期：1986-05-01 00:00:00

abstract：:During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to ...

journal_title：Prenatal diagnosis

authors： Tharapel AT,Ward JC,Wiggins L,Wilroy RS Jr

更新日期：1986-01-01 00:00:00

abstract：:Intrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha-fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18.5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (...

journal_title：Prenatal diagnosis

authors： Bass HN,Oliver JB,Srinivasan M,Petrucha R,Ng W,Lee JE

更新日期：1986-01-01 00:00:00

abstract：:Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth-promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20-30 per cent fetal bovine serum. The v...

journal_title：Prenatal diagnosis

authors： Chang HC,Jones OW

更新日期：1985-09-01 00:00:00

abstract：:Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4...

journal_title：Prenatal diagnosis

authors： Nocera G,Dalpra' L,Tibiletti MG,Buscaglia M

更新日期：1985-05-01 00:00:00

abstract：:Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...

journal_title：Prenatal diagnosis

authors： Vamos E,Pratola D,Van Regemorter N,Freund M,Flament-Durand J,Rodesch F

更新日期：1985-05-01 00:00:00

abstract：:We investigated a case (I.I.) of the severe form of mucopolysaccharidosis I (Hurler syndrome). Prenatal diagnosis was requested by the parents and the next pregnancy was monitored. We report here a special difficulty arising in this diagnosis due to the low enzyme activity in the mother's cells (10-15 per cent of cont...

journal_title：Prenatal diagnosis

authors： Gatti R,Borrone C,Filocamo M,Pannone N,Di Natale P

更新日期：1985-03-01 00:00:00

abstract：:Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...

journal_title：Prenatal diagnosis

authors： Robinson BH,Toone JR,Benedict RP,Dimmick JE,Oei J,Applegarth DA

更新日期：1985-01-01 00:00:00

abstract：:Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Spec...

journal_title：Prenatal diagnosis

authors： Morgan-Capner P,Rodeck CH,Nicolaides KH,Cradock-Watson JE

更新日期：1985-01-01 00:00:00

abstract：:Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...

journal_title：Prenatal diagnosis

authors： Winter R,Rosenkranz W,Hofmann H,Zierler H,Becker H,Borkenstein M

更新日期：1985-01-01 00:00:00

abstract：:In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...

journal_title：Prenatal diagnosis

authors： Kirkinen P,Jouppila P

更新日期：1984-11-01 00:00:00

abstract：:During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultr...

journal_title：Prenatal diagnosis

authors： Redford DH,McNay MB,Ferguson-Smith ME,Jamieson ME

更新日期：1984-09-01 00:00:00

abstract：:We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...

journal_title：Prenatal diagnosis

authors： Besançon AM,Belon JP,Castelnau L,Dumez Y,Poenaru L

更新日期：1984-09-01 00:00:00

abstract：:Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...

journal_title：Prenatal diagnosis

authors： Brock DJ,Bedgood D,Hayward C,Carbarns NJ,Gosden C

更新日期：1984-07-01 00:00:00

abstract：:Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based ...

journal_title：Prenatal diagnosis

authors： Ryley HC,Rodeck CH

更新日期：1984-07-01 00:00:00