abstract：:The diagnosis of Dandy-Walker malformation was made on the ultrasonographic evaluation of a 33-week male fetus. Pedigree analysis revealed a family history of isolated Dandy-Walker malformation in three other males, suggesting an X-linked recessive inheritance pattern. ...

journal_title：Prenatal diagnosis

authors： Cowles T,Furman P,Wilkins I

更新日期：1993-02-01 00:00:00

abstract：:Amniotic 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 f...

journal_title：Prenatal diagnosis

authors： Loft AG,Høgdall E,Larsen SO,Nørgaard-Pedersen B

更新日期：1993-02-01 00:00:00

abstract：:As a preliminary step to preimplantation diagnosis of sickle cell disease in unfertilized eggs or 8-cell embryos of heterozygous parents, we established quality control for detection of the mutant and normal alleles of the beta-haemoglobin gene using single buccal cells. Efficient polymerase chain reaction (PCR) ampli...

journal_title：Prenatal diagnosis

authors： Monk M,Kenealy MR,Mohadjerani S

更新日期：1993-01-01 00:00:00

abstract：:Two 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' ges...

journal_title：Prenatal diagnosis

authors： Bui TH,Lindholm H,Demir N,Thomassen P

更新日期：1992-12-01 00:00:00

abstract：:We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...

journal_title：Prenatal diagnosis

authors： Diukman R,Tanigawara S,Cowan MJ,Golbus MS

更新日期：1992-11-01 00:00:00

abstract：:A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15);n = 1). With the exc...

journal_title：Prenatal diagnosis

authors： Khong TY,George K

更新日期：1992-11-01 00:00:00

abstract：:In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing g...

journal_title：Prenatal diagnosis

authors： Monni G,Ibba RM,Lai R,Giuseppina C,Silvia M,Olla G,Cao A

更新日期：1992-10-01 00:00:00

abstract：:Amiodarone treatment in pregnancy might be difficult to handle because of the long half-life of the drug (14-28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short-term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few repor...

journal_title：Prenatal diagnosis

authors： Valensise H,Civitella C,Garzetti GG,Romanini C

更新日期：1992-09-01 00:00:00

abstract：:Maternal 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. ...

journal_title：Prenatal diagnosis

authors： Norton ME,Golbus MS

更新日期：1992-09-01 00:00:00

abstract：:This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...

journal_title：Prenatal diagnosis

authors： Moertel CA,Stupca PJ,Dewald GW

更新日期：1992-08-01 00:00:00

abstract：:A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...

journal_title：Prenatal diagnosis

authors： Dahl N,Wadelius C,Annerén G,Gustavson KH

更新日期：1992-07-01 00:00:00

abstract：:A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...

journal_title：Prenatal diagnosis

authors： Zalel Y,Weiner E,Zabari A,Shalev E

更新日期：1992-04-01 00:00:00

abstract：:Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS proce...

journal_title：Prenatal diagnosis

authors： Silver RK,MacGregor SN,Hobart ED

更新日期：1992-03-01 00:00:00

abstract：:In cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY,46,...

journal_title：Prenatal diagnosis

authors： Ville Y,Borghi E,Pons JC,Lelorc'h M

更新日期：1992-02-01 00:00:00

abstract：:46,XY,-22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, b...

journal_title：Prenatal diagnosis

authors： Spinner NB,Gibas Z,Kline R,Berger B,Jackson L

更新日期：1992-01-01 00:00:00

abstract：:We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedure...

journal_title：Prenatal diagnosis

authors： Tymstra TJ,Bajema C,Beekhuis JR,Mantingh A

更新日期：1991-12-01 00:00:00

abstract：:Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...

journal_title：Prenatal diagnosis

authors： Bruch JF,Metezeau P,Garcia-Fonknechten N,Richard Y,Tricottet V,Hsi BL,Kitzis A,Julien C,Papiernik E

更新日期：1991-10-01 00:00:00

abstract：:A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the numbe...

journal_title：Prenatal diagnosis

authors： Dumez Y,Dommergues M,Lyonnet S,Tada K,Kaplan J,Mandelbrot L

更新日期：1991-09-01 00:00:00

abstract：:Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5...

journal_title：Prenatal diagnosis

authors： Jahoda MG,Brandenburg H,Reuss A,Cohen-Overbeek TE,Wladimiroff JW,Los FJ,Sachs ES

更新日期：1991-08-01 00:00:00

abstract：:In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...

journal_title：Prenatal diagnosis

authors： Van Lith JM,Beekhuis JR,Van Loon AJ,Mantingh A,De Wolf BT,Breed AS

更新日期：1991-08-01 00:00:00

abstract：:A predominantly triploid 69,XXY placenta was found associated with a normal 46,XX infant. Therefore, a triploid placenta is apparently capable of supporting normal fetal development. The chromosome and pathological results support the conclusion that the triploid placenta originates from a 'vanishing twin' pregnancy. ...

journal_title：Prenatal diagnosis

authors： Callen DF,Fernandez H,Hull YJ,Svigos JM,Chambers HM,Sutherland GR

更新日期：1991-07-01 00:00:00

abstract：:The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocente...

journal_title：Prenatal diagnosis

authors： Abuelo DN,Hopmann MR,Barsel-Bowers G,Goldstein A

更新日期：1991-06-01 00:00:00

abstract：:A case of true fetal mosaicism 46,XY/47,XY, + 17 was diagnosed in amniotic fluid cells. After genetic counselling and unsuccessful periumbilical blood sampling the pregnancy continued to term, and a healthy male infant was born. Lymphocytes of the newborn had a normal karyotype. Follow-up of the child at age 18 months...

journal_title：Prenatal diagnosis

authors： Djalali M,Barbi G,Grab D

更新日期：1991-06-01 00:00:00

abstract：:Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution...

journal_title：Prenatal diagnosis

authors： Webb T

更新日期：1991-05-01 00:00:00

abstract：:Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...

journal_title：Prenatal diagnosis

authors： Donnenfeld AE,van de Woestijne J,Craparo F,Smith CS,Ludomirsky A,Weiner S

更新日期：1991-04-01 00:00:00

abstract：:Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence ...

journal_title：Prenatal diagnosis

authors： Mostello D,Hoechstetter L,Bendon RW,Dignan PS,Oestreich AE,Siddiqi TA

更新日期：1991-04-01 00:00:00

abstract：:A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neon...

journal_title：Prenatal diagnosis

authors： Viljoen DL,Jaquire Z,Woods DL

更新日期：1991-03-01 00:00:00

abstract：:Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 mult...

journal_title：Prenatal diagnosis

authors： Crossley JA,Aitken DA,Connor JM

更新日期：1991-02-01 00:00:00

abstract：:A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period bet...

journal_title：Prenatal diagnosis

authors： Hammer P,Holzgreve W,Karabacak Z,Horst J,Miny P

更新日期：1991-02-01 00:00:00

abstract：:We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted...

journal_title：Prenatal diagnosis

authors： Stoll C,Ehret-Mentre MC,Treisser A,Tranchant C

更新日期：1991-01-01 00:00:00

abstract：:Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...

journal_title：Prenatal diagnosis

authors： Petrella R,Hirschhorn K

更新日期：1990-12-01 00:00:00

abstract：:A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...

journal_title：Prenatal diagnosis

authors： Boelter WD,Burt BA,Spector EB,Hinton DR,Pavlova Z,Fujimoto A

更新日期：1990-11-01 00:00:00

abstract：:Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. On...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Yoffe N,Brandes JM,Blumenfeld Z

更新日期：1990-10-01 00:00:00

abstract：:A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell...

journal_title：Prenatal diagnosis

authors： Carey WF,Nelson PV,Raymond S,Morris CP

更新日期：1990-09-01 00:00:00

abstract：:A method is described which uses the Hind III polymorphism in intron 19 of the factor VIII gene for genomic family analysis and prenatal diagnosis by the polymerase chain reaction. The primers derived from the exon 19 and 20 sequences allow amplification of the whole intron 19 resulting in a 730 bp fragment. Hind III ...

journal_title：Prenatal diagnosis

authors： Wehnert M,Shukova EL,Surin VL,Schröder W,Solovjev GYa,Herrmann FH

更新日期：1990-08-01 00:00:00

abstract：:Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the...

journal_title：Prenatal diagnosis

authors： Reddy KS,Blakemore KJ,Stetten G,Corson V

更新日期：1990-07-01 00:00:00

abstract：:We report a case of nuchal cystic hygroma with spontaneous resolution detected by ultrasound examination at 13 weeks' gestation. Fetal karyotype and amniotic fluid alpha-fetoprotein levels were normal. Extreme caution in evaluating this situation is stressed. ...

journal_title：Prenatal diagnosis

authors： Baccichetti C,Lenzini E,Suma V,Benini F,Marini A

更新日期：1990-06-01 00:00:00

abstract：:A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascen...

journal_title：Prenatal diagnosis

authors： Gembruch U,Chatterjee M,Bald R,Eldering G,Göcke H,Urban AE,Hansmann M

更新日期：1990-04-01 00:00:00

abstract：:A case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi-Hünermann's syndrome (asymmetrical rhizomelic limb shortening or chondrodysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed. ...

journal_title：Prenatal diagnosis

authors： Tuck SM,Slack J,Buckland G

更新日期：1990-03-01 00:00:00

abstract：:Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight of ten fetuses undergoing blood gas analys...

journal_title：Prenatal diagnosis

authors： Tannirandorn Y,Nicolini U,Nicolaidis PC,Fisk NM,Arulkumaran S,Rodeck CH

更新日期：1990-03-01 00:00:00