The risk of adverse pregnancy outcome among pregnancies with extremely low maternal PAPP-A.

abstract：:Fetal severe central nervous system ventriculomegaly is associated with poor neurologic outcomes, usually driven by a primary malformation, deformation, or disruption of brain parenchyma. In utero shunting of excess cerebrospinal fluid (CSF) in hopes of improving neurologic outcomes was attempted in the 1980s but was ...

journal_title：Prenatal diagnosis

authors： Emery SP,Narayanan S,Greene S

更新日期：2020-01-01 00:00:00

abstract：OBJECTIVE:Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide prenatal management. METHOD:Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demograp...

journal_title：Prenatal diagnosis

authors： Guseh SH,Little SE,Bennett K,Silva V,Wilkins-Haug LE

更新日期：2017-07-01 00:00:00

abstract：:We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...

journal_title：Prenatal diagnosis

authors： Abrams DJ,Aronoff AR,Ann Berend S,Roa BB,Shaffer LG,Geier MR

更新日期：2001-08-01 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：OBJECTIVE:To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach, develop an improved version of the diagnostic formula and perform a larger validation study. ...

journal_title：Prenatal diagnosis

authors： Tsaliki E,Papageorgiou EA,Spyrou C,Koumbaris G,Kypri E,Kyriakou S,Sotiriou C,Touvana E,Keravnou A,Karagrigoriou A,Lamnissou K,Velissariou V,Patsalis PC

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS:Fetuses with a confirmed diag...

journal_title：Prenatal diagnosis

authors： Chitty LS,Khalil A,Barrett AN,Pajkrt E,Griffin DR,Cole TJ

更新日期：2013-05-01 00:00:00

abstract：:Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term...

journal_title：Prenatal diagnosis

authors： Knott PD,Colley NV

更新日期：1987-10-01 00:00:00

abstract：:Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...

journal_title：Prenatal diagnosis

authors： Delatycki MB,Alkuraya F,Archibald A,Castellani C,Cornel M,Grody WW,Henneman L,Ioannides AS,Kirk E,Laing N,Lucassen A,Massie J,Schuurmans J,Thong MK,van Langen I,Zlotogora J

更新日期：2020-02-01 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 polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III-VNTR) flanked by two constant Hind III sites (Golstov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by th...

journal_title：Prenatal diagnosis

authors： Romano V,Dianzani I,Ponzone A,Zammarchi E,Eisensmith R,Ceratto N,Bosco P,Indelicato A

更新日期：1994-10-01 00:00:00

abstract：OBJECTIVES:The present study investigated linear, area, and volume measurements of human brain samples according to Carnegie stages (CS) in an attempt to select suitable morphometric features that reflect embryonic development. METHODS:Using magnetic resonance imaging, we measured seven linear segments, three separate...

journal_title：Prenatal diagnosis

authors： Kobayashi A,Ishizu K,Yamada S,Uwabe C,Kose K,Takakuwa T

更新日期：2016-04-01 00:00:00

abstract：:Progressively since 1982 and as part of a nationwide programme for the diagnosis and prevention of genetic diseases, maternal serum alpha-fetoprotein (MS-AFP) screening and ultrasound fetal monitoring has been implemented in all pregnant women in Cuba. In Havana City, 328,983 pregnant women underwent MS-AFP screening ...

journal_title：Prenatal diagnosis

authors： Rodríguez L,Sánchez R,Hernández J,Carrillo L,Oliva J,Heredero L

更新日期：1997-04-01 00:00:00

abstract：:Seeking to optimize a novel method of isolating rare fetal erythroid cells in cultures from maternal blood, we have explored the effects of serum supplement on fetal and adult erythropoiesis. We used flow cytometry and sorting after labelling with antibodies to fetal haemoglobin (HbF) and adult haemoglobin (HbA). In a...

journal_title：Prenatal diagnosis

authors： Bohmer RM,Zhen D,Bianchi DW

更新日期：1999-07-01 00:00:00

abstract：OBJECTIVE:This study assessed decisional conflict about invasive prenatal testing among women pregnant after infertility. METHODS:We surveyed 180 pregnant women with a history of infertility using a mixed methods cross-sectional design. Difficulty in deciding whether to have prenatal testing was measured using the Dec...

journal_title：Prenatal diagnosis

authors： Caleshu C,Shiloh S,Price C,Sapp J,Biesecker B

更新日期：2010-06-01 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：OBJECTIVE:To present a series of cases with a sonographic thick and heterogeneous placenta, and to review the literature. METHODS:A series of 16 cases were analyzed. A heterogeneous placenta was defined as a thick placenta with a patchy decrease of echogenicity, which quivered like jelly to sharp abdominal pressure. A...

journal_title：Prenatal diagnosis

authors： Raio L,Ghezzi F,Cromi A,Nelle M,Dürig P,Schneider H

更新日期：2004-03-01 00:00:00

abstract：OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cel...

journal_title：Prenatal diagnosis

authors： Basel-Vanagaite L,Davidov B,Friedman J,Yeshaya Y,Magal N,Drasinover V,Shohat M

更新日期：2006-09-01 00:00:00

abstract：OBJECTIVE:The aim of this article is to assess the predictive value of second trimester mean uterine artery Doppler pulsatility index (mUtA PI) for pregnancy complications in women with systemic lupus erythematosus (SLE). METHODS:Cohort study of consecutive pregnancies complicated with SLE during a period of 12 years ...

journal_title：Prenatal diagnosis

authors： Pagani G,Reggia R,Andreoli L,Prefumo F,Zatti S,Lojacono A,Tincani A,Frusca T

更新日期：2015-05-01 00:00:00

abstract：OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...

journal_title：Prenatal diagnosis

authors： Pinheiro CC,Rayol P,Gozzani L,Reis LM,Zampieri G,Dias CB,Woronik V

更新日期：2014-11-01 00:00:00

abstract：:Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...

journal_title：Prenatal diagnosis

authors： Chen CP,Shih JC,Lee CC,Chen LF,Wang W,Wang TY

更新日期：1999-09-01 00:00:00

abstract：BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...

journal_title：Prenatal diagnosis

authors： Malan V,Martinovic J,Sanlaville D,Caillat S,Waill MC,Ganne ML,Tantau J,Attie-Bitach T,Vekemans M,Morichon-Delvallez N

更新日期：2006-03-01 00:00:00

abstract：OBJECTIVE:To identify antenatal predictors of adverse perinatal outcomes in a population of preterm fetuses with early placental insufficiency diagnosed by Doppler abnormalities. METHOD:In this cross-sectional study of a cohort of singleton pregnant women diagnosed with early placental insufficiency, relationships bet...

journal_title：Prenatal diagnosis

authors： Baião AER,de Carvalho PRN,Moreira MEL,de Sá RAM,Junior SCG

更新日期：2020-02-01 00:00:00

abstract：:Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and au...

journal_title：Prenatal diagnosis

authors： Driggers RW,Bernstein H,Lantz M,Stetten G,Escallon CS,Perlman E,Blakemore KJ

更新日期：2001-05-01 00:00:00

abstract：OBJECTIVES:Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonan...

journal_title：Prenatal diagnosis

authors： Rustico MA,Lalatta F,Righini A,Spaccini L,Fabietti I,Nicolini U

更新日期：2004-07-01 00:00:00

abstract：:We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation...

journal_title：Prenatal diagnosis

authors： Chen CP,Lin CC,Chuang CY,Lee CC,Chen WL,Jan SW,Lin SP

更新日期：1997-07-01 00:00:00

abstract：OBJECTIVES:Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic...

journal_title：Prenatal diagnosis

authors： Chevy F,Humbert L,Wolf C

更新日期：2005-11-01 00:00:00

abstract：:Levels of beta-core fragment and total oestriol in second-trimester maternal urine samples were measured in 32 Down syndrome pregnancies and 206 control pregnancies. Beta-core fragment and total oestriol values were corrected for the urinary creatinine level and expressed as multiples of the control medians (MOM). In ...

journal_title：Prenatal diagnosis

authors： Kellner LH,Canick JA,Palomaki GE,Neveux LM,Saller DN Jr,Walker RP,Osathanondh R,Bombard AT

更新日期：1997-12-01 00:00:00

abstract：:We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translucency may be an ear...

journal_title：Prenatal diagnosis

authors： Stiller RJ,Lieberson D,Herzlinger R,Siddiqui D,Laifer SA,Whetham JC

更新日期：1999-06-01 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：: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