First-trimester screening: dealing with the fall-out.

abstract：OBJECTIVE:To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS:A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75-bp single-end...

journal_title：Prenatal diagnosis

authors： Neveling K,Tjwan Thung D,Beulen L,van Rens-Buijsman W,Gomes I,van den Heuvel S,Mieloo H,Derks-Prinsen I,Kater-Baats E,Faas BH

更新日期：2016-03-01 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：OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...

journal_title：Prenatal diagnosis

authors： Lei T,Feng JL,Xie YJ,Xie HN,Zheng J,Lin MF

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVES:To evaluate the association between absence of nasal bone on ultrasound and Down syndrome in fetuses at 11-14 weeks of pregnancy. METHODS:One hundred and ninety-four consecutive fetuses from singleton pregnancies undergoing chorionic villi sampling (CVS) were evaluated by transabdominal ultrasound. A sagitt...

journal_title：Prenatal diagnosis

authors： Otaño L,Aiello H,Igarzábal L,Matayoshi T,Gadow EC

更新日期：2002-10-01 00:00:00

abstract：:Even though the global COVID-19 pandemic may affect how medical care is delivered in general, most countries try to maintain steady access for women to routine pregnancy care, including fetal anomaly screening. This means that, also during this pandemic, fetal anomalies will be detected, and that discussions regarding...

journal_title：Prenatal diagnosis

authors： Deprest J,Van Ranst M,Lannoo L,Bredaki E,Ryan G,David A,Richter J,Van Mieghem T

更新日期：2020-12-01 00:00:00

abstract：OBJECTIVE:The aims of this study were to review fetal and maternal outcomes after management of the compromised perinatal airway via operation on placental support or ex utero intrapartum treatment and to discuss implications for future management of these complex and rare cases. METHODS:We have presented a retrospect...

journal_title：Prenatal diagnosis

authors： Osborn AJ,Baud D,Macarthur AJ,Propst EJ,Forte V,Blaser SM,Windrim R,Seaward G,Keunen J,Shah P,Ryan G,Campisi P

更新日期：2013-11-01 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：OBJECTIVE:To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS:Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected individuals, the affected...

journal_title：Prenatal diagnosis

authors： Nielsen JE,Koefoed P,Kjaergaard S,Jensen LN,Nørremølle A,Hasholt L

更新日期：2004-05-01 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：OBJECTIVES:To present the prenatal genetic diagnoses and counseling for two cases of oculocutaneous albinism (OCA) type I family by detection of mutations in the OCA1 gene by denaturing high performance liquid chromatography (DHPLC) system and a review of the literature. METHODS:All DNA samples were extracted from per...

journal_title：Prenatal diagnosis

authors： Lin SY,Chien SC,Su YN,Lee CN,Chen CP

更新日期：2006-05-01 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：:Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 leads to qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red bl...

journal_title：Prenatal diagnosis

authors： Dallapiccola B,Novelli G,Micara G,Ferranti G,Pachi A,Magnani M

更新日期：1983-10-01 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：: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：OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...

journal_title：Prenatal diagnosis

authors： Tao J,Li N,Liu Z,Qiu J,Deng Y,Li X,Chen M,Yu J,Zhu J,Yu P,Wang Y

更新日期：2019-10-01 00:00:00

abstract：:We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in ut...

journal_title：Prenatal diagnosis

authors： D'Ercole C,Boubli L,Franck J,Casta M,Harle JR,Chagnon C,Cravello L,Leclaire M,Blanc B

更新日期：1995-12-01 00:00:00

abstract：:Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Se...

journal_title：Prenatal diagnosis

authors： Lambert I,Kemp J,Jackson J,Joyce H,Mann S,Kan A,Smith A

更新日期：1994-06-01 00:00:00

abstract：:Intrauterine dilation of critical fetal aortic stenosis (AS) and pulmonary stenosis or atresia has the potential to change the natural course of these congenital heart defects preventing progression to a single ventricle circulation. This article reviews the world experience in fetal cardiac interventions. In carefull...

journal_title：Prenatal diagnosis

authors： Arzt W,Tulzer G

更新日期：2011-07-01 00:00:00

abstract：BACKGROUND:Despite the large impact of ultrasonographic and biochemical markers on prenatal screening, the ability to accurately diagnose Down syndrome (DS) is still limited and better diagnostic testing is needed. METHODS:Plasma from 8 women carrying a DS foetus and 12 with non-DS foetuses matched for gestational age...

journal_title：Prenatal diagnosis

authors： Kolialexi A,Tsangaris GT,Papantoniou N,Anagnostopoulos AK,Vougas K,Bagiokos V,Antsaklis A,Mavrou A

更新日期：2008-08-01 00:00:00

abstract：OBJECTIVES:Amniotic fluid stem cells (AFSCs) are derived from the amniotic fluid of the developing fetus and can give rise to diverse differentiated cells of ectoderm, mesoderm, and endoderm lineages. Intrauterine transplantation is an approach used to cure inherited genetic fetal defects during the gestation period of...

journal_title：Prenatal diagnosis

authors： Peng SY,Chen YH,Chou CJ,Wang YH,Lee HM,Cheng WT,Shaw SW,Wu SC

更新日期：2014-05-01 00:00:00

abstract：:We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...

journal_title：Prenatal diagnosis

authors： Markus-Bustani K,Yaron Y,Goldstein M,Orr-Urtreger A,Ben-Shachar S

更新日期：2012-11-01 00:00:00

abstract：:This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as we...

journal_title：Prenatal diagnosis

authors： Snijders RJ,Shawa L,Nicolaides KH

更新日期：1994-12-01 00:00:00

abstract：BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ,Uldbjerg N,Vereecken A,Tørring N

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and proc...

journal_title：Prenatal diagnosis

authors： Vander Plaetsen AS,Weymaere J,Tytgat O,Buyle M,Deforce D,Van Nieuwerburgh F

更新日期：2021-01-12 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：:Late chorionic villus sampling (placental biopsy) under ultrasound guidance was carried out in 800 (80 per cent) cases in the second trimester and 200 (20 per cent) cases in the third trimester of pregnancy. Out of 1000 placental biopsies, 250 (25 per cent) were performed because of suspicious ultrasonographic finding...

journal_title：Prenatal diagnosis

authors： Podobnik M,Ciglar S,Singer Z,Podobnik-Sarkanji S,Duic Z,Skalak D

更新日期：1997-02-01 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：OBJECTIVE:Cell-free DNA (cfDNA) screening for aneuploidy was clinically introduced in 2011. We aim to focus on the follow-up information from a single tertiary center undergoing genome-wide cfDNA screening to evaluate this technology. METHOD:A total of 32 431 cases were retrospectively reviewed. The screening was perf...

journal_title：Prenatal diagnosis

authors： Liang D,Lin Y,Qiao F,Li H,Wang Y,Zhang J,Liu A,Ji X,Ma D,Jiang T,Hu P,Xu Z

更新日期：2018-09-01 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：OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...

journal_title：Prenatal diagnosis

authors： Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger A

更新日期：2002-09-01 00:00:00