Uterine artery Doppler longitudinal changes in pregnancies complicated with intrauterine growth restriction without preeclampsia.

abstract：:A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...

journal_title：Prenatal diagnosis

authors： Wald NJ,Rish S,Hackshaw AK

更新日期：2003-07-01 00:00:00

abstract：:To evaluate the potential utility of free beta (hCG) and beta-core (hCG) in a prenatal screening protocol for Down syndrome we analysed these markers in dried maternal urine specimens from 163 control, 13 Down syndrome and 5 trisomy 18 pregnancies from 8 to 25 weeks' gestation. All results are reported after normaliza...

journal_title：Prenatal diagnosis

authors： Hallahan TW,Krantz DA,Tului L,Alberti E,Buchanan PD,Orlandi F,Klein V,Larsen JW Jr,Macri JN

更新日期：1998-09-01 00:00:00

abstract：OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...

journal_title：Prenatal diagnosis

authors： Grobman WA,Wang E,Shulman LP

更新日期：2005-03-01 00:00:00

abstract：OBJECTIVE:To develop a model for the prediction of gestational diabetes mellitus (GDM) from maternal characteristics and biochemical markers at 11 to 13 weeks' gestation. METHODS:A prospective screening study on early prediction of pregnancy complications (n = 11, 464), including 297 (2.6%) cases of GDM was used to cr...

journal_title：Prenatal diagnosis

authors： Nanda S,Savvidou M,Syngelaki A,Akolekar R,Nicolaides KH

更新日期：2011-02-01 00:00:00

abstract：:In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expect...

journal_title：Prenatal diagnosis

authors： Larsen SO,Hansen J,Pedersen BN

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS:A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both the first and se...

journal_title：Prenatal diagnosis

authors： Nakamura M,Oba T,Takita H,Tokunaka M,Arakaki T,Goto M,Koyano M,Hamada S,Matsuoka R,Sekizawa A

更新日期：2019-07-01 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...

journal_title：Prenatal diagnosis

authors： Langford K,Hodgson S,Seller M,Maxwell D

更新日期：2000-08-01 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：:Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...

journal_title：Prenatal diagnosis

authors： Salafsky IS,MacGregor SN,Claussen U,von Eggeling F

更新日期：2001-10-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...

journal_title：Prenatal diagnosis

authors： Parchem JG,Sparks TN,Gosnell K,Norton ME

更新日期：2018-01-01 00:00:00

abstract：:Between February 1994 and February 1997 a group of 881 women completed a questionnaire on the use of folic acid. During the study period the percentage of women who had been informed about the benefits of folic acid rose from 41 per cent to 90 per cent and the percentage taking supplementation rose from 18 per cent to...

journal_title：Prenatal diagnosis

authors： Brandenburg H,Traas MA,Laudy J,Ursem N,Westerveld AM,Wladimiroff JW

更新日期：1999-02-01 00:00:00

abstract：OBJECTIVE:This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS:Women with complicated monochorionic gestations complicated by...

journal_title：Prenatal diagnosis

authors： Robinson A,Teoh M,Edwards A,Fahey M,Goergen S

更新日期：2017-06-01 00:00:00

abstract：OBJECTIVE:To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS:Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 ...

journal_title：Prenatal diagnosis

authors： Nassr AA,Koh CK,Shamshirsaz AA,Espinoza J,Sangi-Haghpeykar H,Sharhan D,Welty S,Angelo J,Roth D,Belfort MA,Braun M,Ruano R

更新日期：2016-12-01 00:00:00

abstract：OBJECTIVE:To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns. METHODS:Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were ...

journal_title：Prenatal diagnosis

authors： Rossi A,De Biasio P,Scarso E,Gandolfo C,Pavanello M,Morana G,Venturini PL,Tortori-Donati P

更新日期：2006-01-01 00:00:00

abstract：OBJECTIVES:To assess the attitudes of health professionals in Lebanon towards prenatal diagnosis and termination of pregnancy, for a series of genetic, non-genetic and non-medical conditions. METHODS:A total of 158 questionnaires were sent to geneticists, family doctors, pediatricians and obstetricians/gynecologists, ...

journal_title：Prenatal diagnosis

authors： Zahed L,Nabulsi M,Tamim H

更新日期：2002-10-01 00:00:00

abstract：:Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome bas...

journal_title：Prenatal diagnosis

authors： Paladini D,Russo MG,Tartaglione A,Loffredo A,Martinelli P

更新日期：2002-12-01 00:00:00

abstract：:We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...

journal_title：Prenatal diagnosis

authors： Webb AL,Sturgiss S,Warwicker P,Robson SC,Goodship JA,Wolstenholme J

更新日期：1996-10-01 00:00:00

abstract：OBJECTIVE:To compare the cost-effectiveness of performing chorionic villus sampling (CVS) of products of conception (POC) in the evaluation of recurrent miscarriage versus standard evidence-based work-up (EBW) of the couple. MATERIAL AND METHODS:A decision-analytic model was performed in couples with a third miscarria...

journal_title：Prenatal diagnosis

authors： Petracchi F,Paez C,Igarzabal L

更新日期：2017-03-01 00:00:00

abstract：:Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome analysis due to advanced maternal age. Follow-up amniocentesis revealed level 2 mosaicism for trisomy 9. Trisomy 9 was not detected at fetal blood sampling. Molecular analysis of fetal (amni...

journal_title：Prenatal diagnosis

authors： Slater HR,Ralph A,Daniel A,Worthington S,Roberts C

更新日期：2000-11-01 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：OBJECTIVE:The aims of this study were to review fetal and maternal outcomes after management of the compromised perinatal airway via operation on placental support or ex utero intrapartum treatment and to discuss implications for future management of these complex and rare cases. METHODS:We have presented a retrospect...

journal_title：Prenatal diagnosis

authors： Osborn AJ,Baud D,Macarthur AJ,Propst EJ,Forte V,Blaser SM,Windrim R,Seaward G,Keunen J,Shah P,Ryan G,Campisi P

更新日期：2013-11-01 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：OBJECTIVE:The aim of this study was to investigate how couples regard screening information and how they make subsequent decisions about undergoing prenatal screening for Down syndrome. METHODS:Twenty semi-structured interviews were conducted to explore aspects of the decision-making process. Interviews were digitally...

journal_title：Prenatal diagnosis

authors： Carroll FE,Owen-Smith A,Shaw A,Montgomery AA

更新日期：2012-01-01 00:00:00

abstract：OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...

journal_title：Prenatal diagnosis

authors： Mann K,Hills A,Donaghue C,Thomas H,Ogilvie CM

更新日期：2012-12-01 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：:The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that the...

journal_title：Prenatal diagnosis

authors： Fisher J

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...

journal_title：Prenatal diagnosis

authors： Stumm M,Entezami M,Haug K,Blank C,Wüstemann M,Schulze B,Raabe-Meyer G,Hempel M,Schelling M,Ostermayer E,Langer-Freitag S,Burkhardt T,Zimmermann R,Schleicher T,Weil B,Schöck U,Smerdka P,Grömminger S,Kumar Y,Hofmann W

更新日期：2014-02-01 00:00:00

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：:The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to ...

journal_title：Prenatal diagnosis

authors： Chilaka VN,Konje JC,Stewart CR,Narayan H,Taylor DJ

更新日期：2001-03-01 00:00:00

abstract：:Preimplantation genetic testing for aneuploidy (PGT-A) by copy number analysis is now widely used to select euploid embryos for transfer. Whole or partial chromosome aneuploidy can arise in meiosis, predominantly female meiosis, or in the postzygotic, mitotic divisions during cleavage and blastocyst formation, resulti...

journal_title：Prenatal diagnosis

authors： Handyside AH,McCollin A,Summers MC,Ottolini CS

更新日期：2020-08-24 00:00:00