Prenatal ultrasound detection of congenital cataract in trisomy 21.

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:The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS:Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestati...

journal_title：Prenatal diagnosis

authors： Sirichotiyakul S,Luewan S,Srisupundit K,Tongprasert F,Tongsong T

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...

journal_title：Prenatal diagnosis

authors： Hwa HL,Ko TM,Chang YY,Huang CH,Su YN,Tseng LH,Hsieh FJ

更新日期：2004-02-01 00:00:00

abstract：OBJECTIVES:A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS:The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously pub...

journal_title：Prenatal diagnosis

authors： Donaghue C,Roberts A,Mann K,Ogilvie CM

更新日期：2003-03-01 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：OBJECTIVES:To compare liver volume between trisomy 21 and euploid fetuses at 11 to 13 weeks' gestation. METHODS:Fetal liver volume was measured by 3D ultrasound in fetuses at low risk of aneuploidies (n = 200) and another group at high risk, including 148 euploid and 37 with trisomy 21. The association of liver volume...

journal_title：Prenatal diagnosis

authors： Gielchinsky Y,Zvanca M,Minekawa R,Persico N,Nicolaides KH

更新日期：2011-01-01 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：:There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...

journal_title：Prenatal diagnosis

authors： Law HY,Stanier P,Williamson R,Modell B,Ward RH,Petrou M,Old J,Farrall M

更新日期：1987-03-01 00:00:00

abstract：:In its successful annual cycle of controversies and debates, the International Society of Prenatal Diagnosis and Therapy once again addressed non-invasive prenatal testing (NIPT) by following up on the 2013 controversy, 'Should non-invasive DNA testing be the standard screening test for Down syndrome in all pregnant w...

journal_title：Prenatal diagnosis

authors： Van Lith JM,Faas BH,Bianchi DW

更新日期：2015-01-01 00:00:00

abstract：:Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of ...

journal_title：Prenatal diagnosis

authors： Smith FJ,McKusick VA,Nielsen K,Pfendner E,Uitto J,McLean WH

更新日期：1999-10-01 00:00:00

abstract：:This study evaluates the long-term pulmonary complications of 25 children from a prospective, matched-control, pilot study evaluating short-term complications of early (11-14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were ...

journal_title：Prenatal diagnosis

authors： Calhoun BC,Brehm W,Bombard AT

更新日期：1994-03-01 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：OBJECTIVE:To compare the prognostic value of fetal serum α1-microglobulin with that of β2-microglobulin and cystatin C for postnatal renal function. METHOD:Retrospective study of α1-microglobulin, β2-microglobulin, and cystatin C in fetal serum from 126 fetuses with congenital abnormalities of the kidney and urinary t...

journal_title：Prenatal diagnosis

authors： Nguyen C,Dreux S,Heidet L,Czerkiewicz I,Salomon LJ,Guimiot F,Schmitz T,Tsatsaris V,Boulot P,Rousseau T,Muller F

更新日期：2013-08-01 00:00:00

abstract：BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...

journal_title：Prenatal diagnosis

authors： Salomon LJ,Baumann C,Delezoide AL,Oury JF,Pariente D,Sebag G,Garel C

更新日期：2006-03-01 00:00:00

abstract：:A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early amniocentesis or tr...

journal_title：Prenatal diagnosis

authors： Nagel HT,Vandenbussche FP,Keirse MJ,Oepkes D,Oosterwijk JC,Beverstock G,Kanhai HH

更新日期：1998-05-01 00:00:00

abstract：:Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...

journal_title：Prenatal diagnosis

authors： Bruch JF,Metezeau P,Garcia-Fonknechten N,Richard Y,Tricottet V,Hsi BL,Kitzis A,Julien C,Papiernik E

更新日期：1991-10-01 00:00:00

abstract：OBJECTIVE:We aimed to test for an association between the amount of circulating fetal cell-free DNA and trisomy, and whether NIPS failure due to low fetal fraction indicates trisomy risk. METHOD:Maternal BMI, maternal age, fetal sex, gestational age, fetal cfDNA fraction, and NIPS results was collected on 2374 pregnan...

journal_title：Prenatal diagnosis

authors： Lopes JL,Lopes GS,Enninga EAL,Kearney HM,Hoppman NL,Rowsey RA

更新日期：2020-06-01 00:00:00

abstract：OBJECTIVES:To develop a simulation model and assess the learning curve of fetal shunting. METHODS:Three staff and three trainees performed fetal shunting on a model using the fetal bladder stent. The model was evaluated according to various sources of validity evidence. The number of procedures to reach competency was...

journal_title：Prenatal diagnosis

authors： Phithakwatchara N,Nawapun K,Viboonchart S,Jaingam S,Wataganara T

更新日期：2019-12-01 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：:Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...

journal_title：Prenatal diagnosis

authors： Winter R,Rosenkranz W,Hofmann H,Zierler H,Becker H,Borkenstein M

更新日期：1985-01-01 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：:Experimental materno-embryonic transfusions with serum that is immunologically active against blood group antigens cause congenital malformations in the rat embryo. In view of the possible increased incidence of vascular disruptive syndromes after chorionic villus sampling (CVS), we investigated the occurrence of mate...

journal_title：Prenatal diagnosis

authors： Los FJ,Noomen P,Vermeij-Keers C,Gaillard JL,Brandenburg H,Jahoda MG,Luider TM

更新日期：1996-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS:Serum samples were collected between 2004 and 2007 as part of the national program. A ...

journal_title：Prenatal diagnosis

authors： Wortelboer EJ,Linskens IH,Koster MP,Stoutenbeek P,Cuckle H,Blankenstein MA,Visser GH,van Vugt JM,Schielen PC

更新日期：2009-09-01 00:00:00

abstract：:Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...

journal_title：Prenatal diagnosis

authors： Donnenfeld AE,van de Woestijne J,Craparo F,Smith CS,Ludomirsky A,Weiner S

更新日期：1991-04-01 00:00:00

abstract：:We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phen...

journal_title：Prenatal diagnosis

authors： Thangavelu M,Pergament E,Espinosa R 3rd,Bohlander SK

更新日期：1994-07-01 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：:Enteric duplication cyst is a congenital abnormality that is believed to arise from abnormal recanalization of the bowel during embryogenesis. Previous reports suggest that the condition may be suspected prenatally by sonographic demonstration of an intra-abdominal cystic mass in the second and third trimesters. We pr...

journal_title：Prenatal diagnosis

authors： Chen M,Lam YH,Lin CL,Chan KW,Hui PW,Tang MH,Lee CP,Khong PL

更新日期：2002-12-01 00:00:00

abstract：OBJECTIVE:The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies. METHODS:Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) was measured at 11 to 1...

journal_title：Prenatal diagnosis

authors： Prats P,Rodríguez I,Comas C,Puerto B

更新日期：2012-10-01 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：:We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...

journal_title：Prenatal diagnosis

authors： Besançon AM,Belon JP,Castelnau L,Dumez Y,Poenaru L

更新日期：1984-09-01 00:00:00