Application of QF-PCR for the prenatal assessment of discordant monozygotic twins for fetal sex.

abstract：:An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malfor...

journal_title：Prenatal diagnosis

authors： Carles D,Maugey-Laulom B,Habboud H,Alberti EM,Weichhold W,Léger F

更新日期：1995-08-01 00:00:00

abstract：:Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus w...

journal_title：Prenatal diagnosis

authors： Smoleniec JS,Davies T,Lunt P,Berry PJ,James D

更新日期：1993-03-01 00:00:00

abstract：:This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the tim...

journal_title：Prenatal diagnosis

authors： Kallinen J,Heinonen S,Ryynänen M,Pulkkinen L,Mannermaa A

更新日期：2001-02-01 00:00:00

abstract：OBJECTIVE:To evaluate decision analysis as a technique to facilitate women's decision-making about prenatal diagnosis for Down syndrome using measures of effective decision-making. DESIGN:Randomised controlled trial in a UK hospital's prenatal diagnosis clinic. INTERVENTION:Routine versus routine consultation structu...

journal_title：Prenatal diagnosis

authors： Bekker HL,Hewison J,Thornton JG

更新日期：2004-04-01 00:00:00

abstract：:A case of focal nodular hyperplasia of the liver presenting in a 36-week-old fetus is reported. The tumour appeared on antenatal ultrasound as a 4.0 cm x 3.0 cm x 2.7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonogra...

journal_title：Prenatal diagnosis

authors： Petrikovsky BM,Cohen HL,Scimeca P,Bellucci E

更新日期：1994-05-01 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：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：:We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long ar...

journal_title：Prenatal diagnosis

authors： Caine A,Mason G,Daly HA,Ricketts SM

更新日期：1993-11-01 00:00:00

abstract：:We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early...

journal_title：Prenatal diagnosis

authors： Wolstenholme J,White I,Sturgiss S,Carter J,Plant N,Goodship JA

更新日期：2001-10-01 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

abstract：OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...

journal_title：Prenatal diagnosis

authors： Miner D,Rajkovic A

更新日期：2003-05-01 00:00:00

abstract：:Both human epidemiologic and animal model studies demonstrate that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with adverse neurodevelopmental outcomes in offspring. Neurodevelopmental outcomes described in offspring of obese women include cognitive impairment, autism spectru...

journal_title：Prenatal diagnosis

authors： Shook LL,Kislal S,Edlow AG

更新日期：2020-08-01 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：OBJECTIVE:Intact atrial septum or highly restrictive inter-atrial communication (I/HRAS) combined with either severe aortic stenosis (SAS) or hypoplastic left heart syndrome (HLHS), respectively, is associated with adverse outcome. This study focusses on changes in alveolo-septal lung parenchyma due to increased left a...

journal_title：Prenatal diagnosis

authors： Goltz D,Lunkenheimer JM,Abedini M,Herberg U,Berg C,Gembruch U,Fischer HP

更新日期：2015-05-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. CASE:An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities c...

journal_title：Prenatal diagnosis

authors： Beaujard MP,Jouannic JM,Bessières B,Borie C,Martin-Luis I,Fallet-Bianco C,Portnoï MF

更新日期：2005-06-01 00:00:00

abstract：OBJECTIVE:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the ...

journal_title：Prenatal diagnosis

authors： Tsui NB,Wong BC,Leung TY,Lau TK,Chiu RW,Lo YM

更新日期：2009-11-01 00:00:00

abstract：:Due to the low cell concentration, cultures from early amniotic fluid specimens usually require 2-3 weeks in culture prior to karyotyping. The purpose of this study was to evaluate the culture quality of amniotic fluid cells from early pregnancy, obtained by a new filter technique. The hypothetical advantage of the te...

journal_title：Prenatal diagnosis

authors： Sundberg K,Smidt-Jensen S,Lundsteen C,Agerbaek K,Philip J

更新日期：1993-12-01 00:00:00

abstract：:Blood collected from 62 fetuses aged 20-38 weeks of gestation was studied. The values of ten lipid parameters were determined: cholesterol (TC), triglycerides (TGs), apolipoprotein A1 (apo A1), apolipoprotein B (apo B), apolipoprotein E (apo E), total apolipoprotein CIII (apo CIII), apolipoprotein CIII present in part...

journal_title：Prenatal diagnosis

authors： Legras B,Durou MR,Ruelland A,Gallou G,Jezequel C,Cloarec L

更新日期：1995-03-01 00:00:00

abstract：OBJECTIVES:Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA. In addition, we studied the outcome of isolat...

journal_title：Prenatal diagnosis

authors： de Jong EM,de Haan MA,Gischler SJ,Hop W,Cohen-Overbeek TE,Bax NM,de Klein A,Tibboel D,Grijseels EW

更新日期：2010-03-01 00:00:00

abstract：:Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...

journal_title：Prenatal diagnosis

authors： Meir K,Yagel S,Amsalem H,Ariel I

更新日期：2002-03-01 00:00:00

abstract：:We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). ...

journal_title：Prenatal diagnosis

authors： Martinelli P,Russo R,Agangi A,Paladini D

更新日期：2002-05-01 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：OBJECTIVE:The objective of this study is to combine multiplex ligation-dependent probe amplification (MLPA) and bisulfite sequencing to determine DNA methylation markers for noninvasive prenatal diagnosis of Down syndrome. METHODS:DNA methylation ratios (MR) of four fragments (CGI149, CGI045, HLCS-1, and HLCS-2) on ch...

journal_title：Prenatal diagnosis

authors： Yin YZ,She Q,Zhang J,Zhang PZ,Zhang Y,Lin JW,Ye YC

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVE:This study aimed to determine the diagnostic application of multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for targeted detection of common chromosomal aneuploidies (i.e. 13, 18, 21, X and Y) in amniotic fluid cells in routine prenatal clinical practice. METHODS:In this evaluat...

journal_title：Prenatal diagnosis

authors： Kooper AJ,Faas BH,Kater-Baats E,Feuth T,Janssen JC,van der Burgt I,Lotgering FK,van Kessel AG,Smits AP

更新日期：2008-11-01 00:00:00

abstract：OBJECTIVE:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...

journal_title：Prenatal diagnosis

authors： Kim SK,Hannum G,Geis J,Tynan J,Hogg G,Zhao C,Jensen TJ,Mazloom AR,Oeth P,Ehrich M,van den Boom D,Deciu C

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...

journal_title：Prenatal diagnosis

authors： Brusilov M,Wolman I,Ashwal E,Malinger G,Birnbaum R

更新日期：2018-12-01 00:00:00

abstract：:We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

journal_title：Prenatal diagnosis

authors： Hamada H,Horigome H,Asaka M,Shigemitsu S,Mitsui T,Kubo T,Kandori A,Tsukada K

更新日期：1999-07-01 00:00:00

abstract：OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...

journal_title：Prenatal diagnosis

authors： Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman G

更新日期：2015-12-01 00:00:00

abstract：:During the period 1987 through mid-1993, 118 490 chromosome analyses from amniocytes were performed at the Integrated Genetics Laboratories in Santa Fe, New Mexico (formerly Vivigen Laboratories). This report summarizes the data for all specimens submitted because of anomalies seen during ultrasound examination; this ...

journal_title：Prenatal diagnosis

authors： Hanna JS,Neu RL,Lockwood DH

更新日期：1996-02-01 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