Weight adjustment of serum markers in early first-trimester prenatal screening for Down syndrome.

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：: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：:Since 1993, the position of the American College of Medical Genetics (ACMG) has been that prenatal interphase fluorescence in situ hybridization (FISH) is investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is presented ...

journal_title：Prenatal diagnosis

authors： Tepperberg J,Pettenati MJ,Rao PN,Lese CM,Rita D,Wyandt H,Gersen S,White B,Schoonmaker MM

更新日期：2001-04-01 00:00:00

abstract：:There are a number of potential biochemical markers that may have some role in predicting renal function postnatally. These include urinary sodium, calcium and beta2-microglobulin. The latter may also be measured in fetal serum. However, the accuracy of these parameters at a point in time is far from perfect as urinar...

journal_title：Prenatal diagnosis

authors： Nicolini U,Spelzini F

更新日期：2001-11-01 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: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：OBJECTIVE:To present a case of partial 6q trisomy diagnosed prenatally. METHOD:A 28-year-old woman underwent genetic amniocentesis at 23 weeks of gestation on the detection of an enlarged nuchal fold (8.5 mm), which was the only clinical abnormality on routine ultrasound examination. Fetal karyotyping revealed a parti...

journal_title：Prenatal diagnosis

authors： Valerio D,Di Domenico A,Felicetti M,La Boccetta A,Ferrara C,Antonio N,Borrelli AL

更新日期：2006-10-01 00:00:00

abstract：:We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...

journal_title：Prenatal diagnosis

authors： Diukman R,Tanigawara S,Cowan MJ,Golbus MS

更新日期：1992-11-01 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：:A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. On...

journal_title：Prenatal diagnosis

authors： Brock DJ

更新日期：1994-12-01 00:00:00

abstract：:A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...

journal_title：Prenatal diagnosis

authors： Hoo JJ,Jamro H,Schmutz S,Lin CC

更新日期：1983-07-01 00:00:00

abstract：:A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remark...

journal_title：Prenatal diagnosis

authors： Cheng WF,Huang SC,Ko TM

更新日期：1995-01-01 00:00:00

abstract：OBJECTIVE:We sought to evaluate the impact of mode of delivery (MOD) on early outcome for neonates diagnosed prenatally with major forms of congenital heart disease (CHD). METHODS:We retrospectively studied infants admitted, over a 2-year period, to a single institution for cardiac intervention. Infants were grouped o...

journal_title：Prenatal diagnosis

authors： Trento LU,Pruetz JD,Chang RK,Detterich J,Sklansky MS

更新日期：2012-12-01 00:00:00

abstract：:Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...

journal_title：Prenatal diagnosis

authors： Emiliani S,Merino EG,Van den Bergh M,Abramowicz M,Vassart G,Englert Y,Delneste D

更新日期：2000-12-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...

journal_title：Prenatal diagnosis

authors： Khoshnood B,Wall S,Pryde P,Lee KS

更新日期：2004-02-01 00:00:00

abstract：OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...

journal_title：Prenatal diagnosis

authors： Grati FR,Bajaj K,Malvestiti F,Agrati C,Grimi B,Malvestiti B,Pompilii E,Maggi F,Gross S,Simoni G,Ferreira JC

更新日期：2015-10-01 00:00:00

abstract：:Maternal serum CA 125 levels were determined at 9-11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups. ...

journal_title：Prenatal diagnosis

authors： Norton ME,Golbus MS

更新日期：1992-09-01 00:00:00

abstract：OBJECTIVES:Screening of fetuses at 11 to 14 weeks of gestation for Down syndrome using stored volumes acquired by a three-dimensional (3D) scanner. METHOD:Thirty-four healthy singleton fetuses were recruited consecutively and prospectively during routine first trimester scans in our unit. Two-dimensional (2D) images o...

journal_title：Prenatal diagnosis

authors： Shaw SW,Hsieh TT,Hsu JJ,Lee CL,Cheng PJ

更新日期：2009-01-01 00:00:00

abstract：:A mosaic chromosome complement, 46,XY/47,XY,+r(15), was detected at prenatal diagnosis. Family studies showed the mother and one of her two children to have a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes examined. The maternal grandfather also showed a bisatellited SMC, but in only 2 per cent ...

journal_title：Prenatal diagnosis

authors： Adhvaryu SG,Peters-Brown T,Livingston E,Qumsiyeh MB

更新日期：1998-02-01 00:00:00

abstract：:Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...

journal_title：Prenatal diagnosis

authors： Zlotogora J,Granat M,Knowlton RG

更新日期：1994-02-01 00:00:00

abstract：OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...

journal_title：Prenatal diagnosis

authors： Zhang W,Lei T,Fu F,Deng Q,Li R,Wang D,Yang X,Li D,Liao C

更新日期：2020-09-30 00:00:00

abstract：:We report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that the father had a subtle translocation between chromosome 5 and chromosome 13, 46, XY, t(5;13) (q35.2;q34). Two specific, non-routine techniques were associated ...

journal_title：Prenatal diagnosis

authors： Guichet A,Briault S,Moraine C

更新日期：1998-04-01 00:00:00

abstract：:We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...

journal_title：Prenatal diagnosis

authors： Chen CP,Liu FF,Jan SW,Yang YC,Lan CC

更新日期：1996-12-01 00:00:00

abstract：:We present a case of congenital listeriosis in a twin pregnancy. Presentation was prompted by decreased fetal movements and an ultrasound examination which demonstrated features similar to those observed in an adult with inflammatory conditions of the bowel, namely, small amounts of ascites, dilated loops of bowel and...

journal_title：Prenatal diagnosis

authors： Quinlivan JA,Newnham JP,Dickinson JE

更新日期：1998-10-01 00:00:00

abstract：OBJECTIVE:To present fetal magnetic resonance imaging (MRI) ocular measurement ranges by gestational age (GA) in normal and growth-restricted fetuses. METHODS:A total of 298 pregnant women from the 18th to the 39th week of gestation were imaged using MRI. Ocular measurements including binocular distance (BOD), interoc...

journal_title：Prenatal diagnosis

authors： Li XB,Kasprian G,Hodge JC,Jiang XL,Bettelheim D,Brugger PC,Prayer D

更新日期：2010-11-01 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：:A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...

journal_title：Prenatal diagnosis

authors： Zalel Y,Weiner E,Zabari A,Shalev E

更新日期：1992-04-01 00:00:00

abstract：:Twin pregnancy has a disproportionate effect on perinatal mortality, being six times higher than for singleton gestations. The major threats to perinatal survival are from two very different pathological processes: spontaneous preterm delivery, and the interlacing clinical complications of monochorionicity. With the r...

journal_title：Prenatal diagnosis

authors： Bajoria R,Kingdom J

更新日期：1997-12-01 00:00:00

abstract：:In the first trimester of pregnancy the biochemical markers free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) are used for the prenatal screening of trisomy 21, either alone or in combination with nuchal translucency (NT) thickness. In this study, I have analysed the distribution of these biochemical ma...

journal_title：Prenatal diagnosis

authors： Spencer K

更新日期：2000-02-01 00:00:00

abstract：OBJECTIVE:To examine the potential value of maternal serum concentration of placental protein 13 (PP13) at 11-13 weeks' gestation in screening for preeclampsia (PE). METHODS:Serum PP13, PAPP-A and uterine artery pulsatility index (PI) were determined in a case-control study of 208 cases that developed PE including 48 ...

journal_title：Prenatal diagnosis

authors： Akolekar R,Syngelaki A,Beta J,Kocylowski R,Nicolaides KH

更新日期：2009-12-01 00:00:00