Prenatal diagnosis of a fetus with distal 10q trisomy.

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:To assess the effect of early vaginal bleeding on first-trimester markers for Down syndrome. METHODS:A retrospective study was conducted on 2330 normal singleton fetuses who underwent first-trimester combined screening for Down syndrome based on ultrasound and maternal serum markers. Fetal nuchal translucen...

journal_title：Prenatal diagnosis

authors： De Biasio P,Canini S,Crovo A,Prefumo F,Venturini PL

更新日期：2003-06-01 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：OBJECTIVES:To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. METHODS:NT was classified 'enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syn...

journal_title：Prenatal diagnosis

authors： Zoppi MA,Ibba RM,Floris M,Manca F,Axiana C,Monni G

更新日期：2005-05-01 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：OBJECTIVE:Abnormal maternal serum analytes (pregnancy associated plasma protein A, total human chorionic gonadotropin, alpha fetoprotein, Inhibin A, and unconjugated estriol) measured as part of aneuploidy screening programs have been associated with adverse obstetrical outcomes in euploid pregnancies. This study aimed...

journal_title：Prenatal diagnosis

authors： Metcalfe A,Langlois S,Macfarlane J,Vallance H,Joseph KS

更新日期：2014-02-01 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：:Activity levels of total and placental alkaline phosphatase (AP) were determined in maternal serum and neutrophils of normal and Down syndrome pregnancies. The placental iso-enzyme (PAP) was identified by its relative stability to urea and heat. Significant increase in the activity of all iso-enzymes across gestationa...

journal_title：Prenatal diagnosis

authors： Peleg L,Ries L,Getslev V,Lusky A,Chaki R,Lipitz S,Barkai G

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the algorithms of risk assessment for Down syndrome (DS). METHODS:Cohort study conducted in women at risk undergoing midtrimester genetic sonogram. Univariate and logistic regression analysis were used to relate findings to the occurrence of DS. The resulting model was validated in an independent...

journal_title：Prenatal diagnosis

authors： Vergani P,Ghidini A,Weiner S,Locatelli A,Pozzi E,Biffi A

更新日期：2008-12-01 00:00:00

abstract：:Calcification of the heart and vessels in fetuses is a rare condition. It may be dystrophic or metastatic. An extremely rare form of vascular calcification has been termed 'idiopathic arterial calcification of infancy', which is inherited in an autosomal recessive pattern. We report four cases of myocardial calcificat...

journal_title：Prenatal diagnosis

authors： Hajdu J,Marton T,Papp C,Hruby E,Papp Z

更新日期：1998-11-01 00:00:00

abstract：:Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structur...

journal_title：Prenatal diagnosis

authors： Bilardo CM,Timmerman E,Pajkrt E,van Maarle M

更新日期：2010-02-01 00:00:00

abstract：OBJECTIVE:The aim of this research was to evaluate the performance of a predictive model for early onset preeclampsia (PE) during early gestation. METHOD:Prospective multicenter cohort study was performed in women attending 11-14 weeks ultrasound. Medical history and biometrical variables were recorded and uterine art...

journal_title：Prenatal diagnosis

authors： Caradeux J,Serra R,Nien JK,Pérez-Sepulveda A,Schepeler M,Guerra F,Gutiérrez J,Martínez J,Cabrera C,Figueroa-Diesel H,Soothill P,Illanes SE

更新日期：2013-08-01 00:00:00

abstract：:We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in...

journal_title：Prenatal diagnosis

authors： Bryan J,Peters M,Pritchard G,Healey S,Payton D

更新日期：2002-02-01 00:00:00

abstract：BACKGROUND:The azoospermic factor (AZF) region is critical for normal spermatogenesis since microdeletions and partial deletions have been associated with infertility. We investigate the diagnostic ability of karyotyping in detecting clinically relevant Y chromosome deletions. The clinical significance of heterochromat...

journal_title：Prenatal diagnosis

authors： Minor A,Wong EC,Harmer K,Ma S

更新日期：2007-08-01 00:00:00

abstract：:Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...

journal_title：Prenatal diagnosis

authors： Ioulianos A,Wells D,Harper JC,Delhanty JD

更新日期：2000-07-01 00:00:00

abstract：:Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) ...

journal_title：Prenatal diagnosis

authors： Ryall RG,Callen D,Cocciolone R,Duvnjak A,Esca R,Frantzis N,Gjerde EM,Haan EA,Hocking T,Sutherland G,Thomas DW,Webb F

更新日期：2001-07-01 00:00:00

abstract：OBJECTIVES:To assess the prenatal ultrasound detection rates (DR) of neural tube defects (NTDs) and its evolution over the 1992 to 2006 period in the pregnant population of the city of Barcelona. METHODS:Data on the population-based register of birth defects were used to assess the evolution of the prenatal DR for iso...

journal_title：Prenatal diagnosis

authors： Salvador J,Arigita M,Carreras E,Lladonosa A,Borrell A

更新日期：2011-12-01 00:00:00

abstract：:The objective was to describe the development, characteristics, and initial use of an instrument for assessing knowledge about maternal serum screening (MSS). Items for a knowledge scale were selected based on a review of educational materials, the literature, and expert opinion. Items were pre-tested for comprehensib...

journal_title：Prenatal diagnosis

authors： Goel V,Glazier R,Holzapfel S,Pugh P,Summers A

更新日期：1996-05-01 00:00:00

abstract：BACKGROUND:The use of preimplantation genetic diagnosis (PGD) to select genetically 'normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study eval...

journal_title：Prenatal diagnosis

authors： Katz MG,Fitzgerald L,Bankier A,Savulescu J,Cram DS

更新日期：2002-12-01 00:00:00

abstract：OBJECTIVES:To present prenatally detected mosaic tetrasomy for distal chromosome 15q and a review of the literature. CLINICAL SUBJECT AND METHODS:Amniocentesis was performed at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed mosaicism for an analphoid supernumerary marker chromosome...

journal_title：Prenatal diagnosis

authors： Chen CP,Lin CC,Li YC,Chern SR,Lee CC,Chen WL,Lee MS,Wang W,Tzen CY

更新日期：2004-10-01 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：OBJECTIVES:To explore the effect of maternal rhesus status on first-trimester screening markers for Down syndrome. METHODS:We accessed a database of singleton pregnancies undergoing first-trimester genetic screen with maternal Rh status documented and pregnancy outcome information available. Excluded were cases of fet...

journal_title：Prenatal diagnosis

authors： Muhcu M,Mungen E,Atay V,Ipcioglu OM,Dundar O,Ergur R,Yergok YZ

更新日期：2008-05-01 00:00:00

abstract：:We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [Delta F508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and t...

journal_title：Prenatal diagnosis

authors： Harper JC,Wells D,Piyamongkol W,Abou-Sleiman P,Apessos A,Ioulianos A,Davis M,Doshi A,Serhal P,Ranieri M,Rodeck C,Delhanty JD

更新日期：2002-06-01 00:00:00

abstract：OBJECTIVES:To review the accuracy of self-reporting of smoking status in our first trimester screening population and to assess the levels of pregnancy-associated plasma protein-A (PAPP-A) and free-β human chorionic gonadotropin (free-hCGβ) in women who were classified for smoking status by serum cotinine concentration...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ

更新日期：2013-03-01 00:00:00

abstract：:This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes usin...

journal_title：Prenatal diagnosis

authors： Thakur (Mahadik) C,Vaz F,Banerjee M,Kapadia C,Natrajan PG,Yagnik H,Gangal S

更新日期：2000-03-01 00:00:00

abstract：OBJECTIVES:To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS:We identified suspected cases of SCA by reviewing results...

journal_title：Prenatal diagnosis

authors： Reiss RE,Discenza M,Foster J,Dobson L,Wilkins-Haug L

更新日期：2017-05-01 00:00:00

abstract：OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical...

journal_title：Prenatal diagnosis

authors： Lee MJ,Roman AS,Lusskin S,Chen D,Dulay A,Funai EF,Monteagudo A

更新日期：2007-01-01 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

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：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