Uterine and umbilical artery Doppler at 28 weeks for predicting adverse pregnancy outcomes in women with abnormal uterine artery Doppler findings in the early second trimester.

abstract：:Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in family 1 following ...

journal_title：Prenatal diagnosis

authors： Charlwood J,Clayton P,Keir G,Mian N,Young E,Winchester B

更新日期：1998-07-01 00:00:00

abstract：:There is an increasing number of reports relating chorionic villus sampling (CVS) to transverse limb reduction defects or the oromandibular limb hypogenesis complex. In addition, a correlation has been established between the severity of the defect and the gestational age when CVS is performed. Several hypotheses have...

journal_title：Prenatal diagnosis

authors： van der Zee DC,Bax KM,Vermeij-Keers C

更新日期：1997-01-01 00:00:00

abstract：OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...

journal_title：Prenatal diagnosis

authors： Gu YZ,Nisbet DL,Reidy KL,Palma-Dias R

更新日期：2019-01-01 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：OBJECTIVES:To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation. METHODS:Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development. RESULTS:All cells examined showed a 47, X...

journal_title：Prenatal diagnosis

authors： Hengstschläger M,Bettelheim D,Drahonsky R,Repa C,Deutinger J,Bernaschek G

更新日期：2004-08-01 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 systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...

journal_title：Prenatal diagnosis

authors： Gualandi F,Sensi A,Trabanelli C,Falciano F,Bonfatti A,Calzolari E

更新日期：2000-06-01 00:00:00

abstract：:The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...

journal_title：Prenatal diagnosis

authors： Tennstedt C,Chaoui R,Vogel M,Göldner B,Dietel M

更新日期：2000-04-01 00:00:00

abstract：:Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...

journal_title：Prenatal diagnosis

authors： Legge M

更新日期：1983-04-01 00:00:00

abstract：:Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening fo...

journal_title：Prenatal diagnosis

authors： Nazareth SB,Lazarin GA,Goldberg JD

更新日期：2015-10-01 00:00:00

abstract：:A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF-PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long-term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompte...

journal_title：Prenatal diagnosis

authors： Waters JJ,Walsh S,Levett LJ,Liddle S,Akinfenwa Y

更新日期：2006-10-01 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：:Thirty perinatal solid tissue samples were used in a pilot study to test the efficacy of collagenase disaggregation onto coverslips, open system culture under low O2 conditions, pre-harvest incubation in bromodeoxyuridine (BrdU) and colcemid, and in situ automated harvesting. Following the success of the pilot study, ...

journal_title：Prenatal diagnosis

authors： Fisher AM,Cockwell AE,Moore KJ,Gregson NM,Campbell PL,Campbell CM,Herbert A,Barber JC,Crolla JA

更新日期：1996-07-01 00:00:00

abstract：OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and proc...

journal_title：Prenatal diagnosis

authors： Vander Plaetsen AS,Weymaere J,Tytgat O,Buyle M,Deforce D,Van Nieuwerburgh F

更新日期：2021-01-12 00:00:00

abstract：OBJECTIVE:To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. METHODS:This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. RESULTS...

journal_title：Prenatal diagnosis

authors： Roee B,Adi W,Michael B,Igal W,Karina KH,Liat BS,Gustavo M

更新日期：2020-03-01 00:00:00

abstract：:Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inheri...

journal_title：Prenatal diagnosis

authors： Carvalho F,Sousa M,Fernandes S,Silva J,Saraiva MJ,Barros A

更新日期：2001-12-01 00:00:00

abstract：OBJECTIVE:Outcomes from in vitro fertilization (IVF)/intrauterine insemination (ICSI) cycles for patients who underwent preimplantation genetic testing for monogenic/single gene (PGT-M) and structural chromosome rearrangements (PGT-SR) patients were reviewed. Patients pursuing PGT-M and PGT-SR often do not have pre-exi...

journal_title：Prenatal diagnosis

authors： Butler R,Nakhuda G,Guimond C,Jing C,Lee N,Hitkari J,Tallon N,Taylor B,Yuzpe A

更新日期：2019-09-01 00:00:00

abstract：OBJECTIVE:The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART). METHOD:This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 we...

journal_title：Prenatal diagnosis

authors： Zou Y,Cui L,Xue M,Yan J,Huang M,Gao M,Gao X,Gao Y,Chen ZJ

更新日期：2020-10-02 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：:Twin-twin transfusion syndrome (TTTS) represents a pregnancy complication with a high risk for perinatal mortality and postnatal morbidity. Mathematical models have been utilized to examine the mechanisms of disease and potential treatment modalities. We developed four consecutive models based on pathophysiology mecha...

journal_title：Prenatal diagnosis

authors： van den Wijngaard JP,Umur A,Ross MG,van Gemert MJ

更新日期：2008-04-01 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：: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：:To assess the influence of in vitro fertilization (IVF) on maternal serum human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP), the maternal serum hCG and AFP values were studied in 67 IVF pregnancies and compared with the results of a control group of 4732 spontaneously conceiving patients. Maternal serum ...

journal_title：Prenatal diagnosis

authors： Ribbert LS,Kornman LH,De Wolf BT,Simons AH,Jansen CA,Beekhuis JR,Mantingh A

更新日期：1996-01-01 00:00:00

abstract：OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...

journal_title：Prenatal diagnosis

authors： Donalson K,Turner S,Wastell H,Cuckle H

更新日期：2008-10-01 00:00:00

abstract：:Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregna...

journal_title：Prenatal diagnosis

authors： Illanes S,Soothill P

更新日期：2010-07-01 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：: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：: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

abstract：OBJECTIVES:To present the prenatal genetic diagnoses and counseling for two cases of oculocutaneous albinism (OCA) type I family by detection of mutations in the OCA1 gene by denaturing high performance liquid chromatography (DHPLC) system and a review of the literature. METHODS:All DNA samples were extracted from per...

journal_title：Prenatal diagnosis

authors： Lin SY,Chien SC,Su YN,Lee CN,Chen CP

更新日期：2006-05-01 00:00:00

abstract：:A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of the implications of the test result, and reproductive intentions and ...

journal_title：Prenatal diagnosis

authors： Mennie ME,Axworthy D,Liston WA,Brock DJ

更新日期：1997-09-01 00:00:00