Applicability of DNA isolated from syncytiotrophoblast vesicles to gene amplification and molecular analysis.

abstract：:Complete laryngeal atresia is a rare congenital malformation that is known to cause hypertrophy of the fetal lung in utero. A fetus with laryngeal atresia was found to have markedly immature amniotic fluid lung maturity studies at term. Inappropriately low amniotic fluid lung maturity studies may be an important clue ...

journal_title：Prenatal diagnosis

authors： Watson WJ,Munson DP

更新日期：1995-06-01 00:00:00

abstract：:The purpose of the present study was to determine the postnatal outcome and prognostic factors of prenatally diagnosed ventriculomegaly, and to establish the relationship between prenatal sonographic measurements and postnatal psychomotor development. A total of 42 singleton pregnancies with sonographically determined...

journal_title：Prenatal diagnosis

authors： den Hollander NS,Vinkesteijn A,Schmitz-van Splunder P,Catsman-Berrevoets CE,Wladimiroff JW

更新日期：1998-06-01 00:00:00

abstract：:The aim of the present study was to report the findings in 14 women with extremely high risk ('precious') pregnancies, 5 of whom had twins, who underwent elective third-trimester cytogenetic amniocentesis. There were no procedure-related complications, and all newborns weighed more than 2000 g and showed normal develo...

journal_title：Prenatal diagnosis

authors： Shalev J,Meizner I,Rabinerson D,Mashiach R,Peleg D,Orvieto R,Levi T,Ben-Rafael Z

更新日期：1999-08-01 00:00:00

abstract：:This paper reports our experience of molecular analysis and diagnosis of beta-thalassaemia and sickle cell anaemia (HbS) in 70 prospective parents of Turkish descent and their fetuses. Molecular screening was carried out by allele-specific oligonucleotide (ASO) hybridization of amplified DNA to the 12 most common muta...

journal_title：Prenatal diagnosis

authors： Tüzmen S,Tadmouri GO,Ozer A,Baig SM,Ozçelik H,Başaran S,Başak AN

更新日期：1996-03-01 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：OBJECTIVES:To investigate if systemic hypertension occurs in fetuses with twin-to-twin transfusion syndrome (TTTS). METHODS:We conducted an observational cohort study in a tertiary care centre in 23 pregnant women with TTTS. Polyhydramnios stuck twin sequence occurred at a median gestational age of 22 weeks (range 15-...

journal_title：Prenatal diagnosis

authors： Mahieu-Caputo D,Salomon LJ,Le Bidois J,Fermont L,Brunhes A,Jouvet P,Dumez Y,Dommergues M

更新日期：2003-08-01 00:00:00

abstract：:Prenatal screening using the maternal serum markers alpha-fetoprotein, human chorionic gonadotropin, and unconjugated oestriol was investigated in a native Japanese population. Comparison with a Caucasian U.S. population revealed differences which led to modification of the generally used equations for risk calculatio...

journal_title：Prenatal diagnosis

authors： Onda T,Kitagawa M,Takeda O,Sago H,Kubonoya K,Iinuma K,Bradley LA,Canick JA,Krasikov NE,Ponting NR,Grier RE

更新日期：1996-08-01 00:00:00

abstract：:An electron microscopic DOPA reaction test of fetal skin was used for the prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA). The subject was a 34-year-old Japanese woman in her second pregnancy. Her first child, born in 1982, had been previously examined and confirmed to have tyrosinase-negative ...

journal_title：Prenatal diagnosis

authors： Shimizu H,Ishiko A,Kikuchi A,Akiyama M,Suzumori K,Nishikawa T

更新日期：1994-06-01 00:00:00

abstract：OBJECTIVE:To estimate the improvement in screening efficiency when fetal ductus venosus Doppler studies are added to existing first-trimester Down syndrome screening protocols. METHODS:Statistical modelling was used with parameters derived from prospective ductus venosus studies and from the published literature. The ...

journal_title：Prenatal diagnosis

authors： Borrell A,Gonce A,Martinez JM,Borobio V,Fortuny A,Coll O,Cuckle H

更新日期：2005-10-01 00:00:00

abstract：:Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal ...

journal_title：Prenatal diagnosis

authors： Chen WY,Lin CN,Chao CS,Yan-Sheng Lin M,Mak CW,Chuang SS,Tzeng CC,Huang KF

更新日期：2003-11-01 00:00:00

abstract：BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...

journal_title：Prenatal diagnosis

authors： Zhong XY,Holzgreve W,Hahn S

更新日期：2006-09-01 00:00:00

abstract：:The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...

journal_title：Prenatal diagnosis

authors： Hsu TY,Ou CY,Hsu JJ,Kung FT,Chang SY,Soong YK

更新日期：1999-11-01 00:00:00

abstract：:Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalitie...

journal_title：Prenatal diagnosis

authors： Müller-Navia J,Nebel A,Oehler D,Theile U,Zabel B,Schleiermacher E

更新日期：1996-10-01 00:00:00

abstract：INTRODUCTION:Limited data exist on the outcome of Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV) and mega-cisterna magna (MCM). We report the first population-based study of posterior fossa anomalies from the northern region of England. METHODS:Cases were identified from the Northern Congenital Abnormalit...

journal_title：Prenatal diagnosis

authors： Long A,Moran P,Robson S

更新日期：2006-08-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions. RESULTS:We developed the control-free noninvasive fetal chromosomal ...

journal_title：Prenatal diagnosis

authors： Sun K,Chan KC,Hudecova I,Chiu RW,Lo YM,Jiang P

更新日期：2017-04-01 00:00:00

abstract：:Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...

journal_title：Prenatal diagnosis

authors： Ghosh A,Woo JS,Wan CW,Wong VC

更新日期：1984-05-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS:Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestati...

journal_title：Prenatal diagnosis

authors： Sirichotiyakul S,Luewan S,Srisupundit K,Tongprasert F,Tongsong T

更新日期：2014-03-01 00:00:00

abstract：:Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation with paediatric su...

journal_title：Prenatal diagnosis

authors： Kerner B,Flaum E,Mathews H,Carlson DE,Pepkowitz SH,Hixon H,Graham JM Jr

更新日期：1998-01-01 00:00:00

abstract：OBJECTIVE:To determine if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies. METHODS:One hundred and fifty-one consecutive fetuses with tetralogy of Fallot without or with pulmonary atresia were screened for 22q11 deletion. Additional echog...

journal_title：Prenatal diagnosis

authors： Boudjemline Y,Fermont L,Le Bidois J,Villain E,Sidi D,Bonnet D

更新日期：2002-03-01 00:00:00

abstract：:Two cases of sirenomelia are described, detected in the 14th and 16th weeks of gestation by transvaginal ultrasonography. A hypothesis for the aetiology of sirenomelia and its associated anomalies is discussed. ...

journal_title：Prenatal diagnosis

authors： van Zalen-Sprock MM,van Vugt JM,van der Harten JJ,van Geijn HP

更新日期：1995-02-01 00:00:00

abstract：OBJECTIVE:To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD:Chromosomal aneuploidies and submicroscopic copy...

journal_title：Prenatal diagnosis

authors： Zhu X,Li J,Ru T,Wang Y,Xu Y,Yang Y,Wu X,Cram DS,Hu Y

更新日期：2016-04-01 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：: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：:FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was locat...

journal_title：Prenatal diagnosis

authors： Winsor EJ,Dyack S,Wood-Burgess EM,Ryan G

更新日期：1999-09-01 00:00:00

abstract：OBJECTIVES:Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS:This is a retrospective cohort study of all fetuses who underwent cystosco...

journal_title：Prenatal diagnosis

authors： Sananes N,Cruz-Martinez R,Favre R,Ordorica-Flores R,Moog R,Zaloszy A,Giron AM,Ruano R

更新日期：2016-04-01 00:00:00

abstract：:Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...

journal_title：Prenatal diagnosis

authors： Bernaschek G,Deutinger J,Hansmann M,Bald R,Holzgreve W,Bollmann R

更新日期：1994-09-01 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：OBJECTIVE:We aimed to study the role of placental pathology in the prediction of preeclampsia (PE) recurrence. METHODS:The medical records and pathological placental reports of all women diagnosed with PE, during 2008-2015, were reviewed. The study population was divided according to the outcome of their subsequent pr...

journal_title：Prenatal diagnosis

authors： Weiner E,Mizrachi Y,Grinstein E,Feldstein O,Rymer-Haskel N,Juravel E,Schreiber L,Bar J,Kovo M

更新日期：2016-10-01 00:00:00

abstract：OBJECTIVE:Maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) are useful markers in the screening of Down syndrome in the first trimester. We investigated the effect of intracytoplasmic sperm injection (ICSI), freezing and thawing of embryos on the levels...

journal_title：Prenatal diagnosis

authors： Hui PW,Lam YH,Tang MH,NG EH,Yeung WS,Ho PC

更新日期：2005-05-01 00:00:00

abstract：:Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromoso...

journal_title：Prenatal diagnosis

authors： Bischoff FZ,Zenger-Hain J,Moses D,Van Dyke DL,Shaffer LG

更新日期：1995-11-01 00:00:00