Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y.


BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic fluids (AF) were analyzed using a commercial MLPA kit (SALSA P095) for aneuploidy of chromosomes 13, 18, 21, X, and Y, and subsequent G-banding. RESULTS:MLPA gave conclusive results in 2330 (97.1%) CVS and 1417 (92.9%) AF samples. MLPA and G-banding showed concordant results except for five CVS and two AF. These were acceptable differences, as MLPA is not expected to detect all cases of mosaicism or partial deletions. MLPA gave inconclusive results for 19 (0.79%) CVS and 20 (1.31%) AF samples in which mosaicism, triploidy, contamination by maternal cells, or structural abnormalities were suspected by MLPA. Finally, 30 (1.97%) AF were discarded because of maternal blood staining, and 51 (2.1%) CVS and 58 (3.8%) AF were discarded because of technical problems. CONCLUSION:The data presented confirm that MLPA is a rapid, simple and reliable method for large scale testing for nonmosaic aneuploidy of chromosomes 13, 18, 21, X, or Y in trypsin-digested CVS and in AF.


Prenat Diagn


Prenatal diagnosis


Gerdes T,Kirchhoff M,Lind AM,Vestergaard Larsen G,Kjaergaard S




Has Abstract


2008-12-01 00:00:00












  • Association of maternal serum PAPP-A levels, nuchal translucency and crown-rump length in first trimester with adverse pregnancy outcomes: retrospective cohort study.

    abstract:OBJECTIVE:Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown-rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD:Retrospective cohort, women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression. OUTCOM...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Bilagi A,Burke DL,Riley RD,Mills I,Kilby MD,Katie Morris R

    更新日期:2017-07-01 00:00:00

  • Identification of universal mRNA markers for noninvasive prenatal screening of trisomies.

    abstract:OBJECTIVE:The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Picchiassi E,Coata G,Centra M,Pennacchi L,Bini V,Di Renzo GC

    更新日期:2010-08-01 00:00:00

  • Prenatal diagnosis of long QT syndrome using fetal magnetocardiography.

    abstract::We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Hamada H,Horigome H,Asaka M,Shigemitsu S,Mitsui T,Kubo T,Kandori A,Tsukada K

    更新日期:1999-07-01 00:00:00

  • Early genetic amniocentesis and its relationship to respiratory difficulties in paediatric patients: a report of findings in patients and matched controls 3-5 years post-procedure.

    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

    pub_type: 临床试验,杂志文章


    authors: Calhoun BC,Brehm W,Bombard AT

    更新日期:1994-03-01 00:00:00

  • Calcification of the fetal heart--four case reports and a literature review.

    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

    pub_type: 杂志文章,评审


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

    更新日期:1998-11-01 00:00:00

  • Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results.

    abstract::Second trimester screening for fetal Down syndrome and trisomy 18 is available through separate protocols that combine the maternal age-specific risk and the analysis of maternal serum markers. We have determined the extent to which additional Down syndrome affected pregnancies may be identified through trisomy 18 scr...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Benn PA,Ying J,Beazoglou T,Egan JF

    更新日期:2001-01-01 00:00:00

  • First trimester screening for other trisomies than trisomy 21, 18, and 13.

    abstract:OBJECTIVE:The objective of the study was to evaluate the performance of first trimester combined screening in cases of placental/fetal, mosaic or non-mosaic, autosomal trisomy other than trisomy 21, 18, or 13, and in cases of aneuploidy for a marker chromosome with focus on biochemical markers. METHOD:We identified 66...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Tørring N,Petersen OB,Becher N,Vogel I,Uldbjerg N,Danish Fetal Medicine Study Group.,Danish Clinical Genetics Study Group.

    更新日期:2015-06-01 00:00:00

  • Second trimester maternal serum ADAM12 levels in Down's syndrome pregnancies.

    abstract:OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Donalson K,Turner S,Wastell H,Cuckle H

    更新日期:2008-10-01 00:00:00

  • Prenatal chromosomal microarray analysis: a survey of prenatal genetic counselors' experiences and attitudes.

    abstract:OBJECTIVE:Studies showing the efficacy and accuracy of chromosomal microarray analysis (CMA) in prenatal diagnosis may position it as a first-tier prenatal test. This study seeks to characterize the practices and attitudes of North American prenatal genetic counselors regarding CMA. METHOD:Genetic counselors (N = 196)...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Mikhaelian M,Veach PM,MacFarlane I,LeRoy BS,Bower M

    更新日期:2013-04-01 00:00:00

  • Prevalence of steroid sulfatase deficiency in California according to race and ethnicity.

    abstract:OBJECTIVE:Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. METHODS:Prevalence was estimated u...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Craig WY,Roberson M,Palomaki GE,Shackleton CH,Marcos J,Haddow JE

    更新日期:2010-09-01 00:00:00

  • Early prenatal diagnosis of ventricular diverticulum complicated by serous pericardial effusion.

    abstract::An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malfor...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Carles D,Maugey-Laulom B,Habboud H,Alberti EM,Weichhold W,Léger F

    更新日期:1995-08-01 00:00:00

  • Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register.

    abstract:OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Morris JK,Mutton DE,Alberman E

    更新日期:2005-12-01 00:00:00

  • Fetal choroid plexus cysts--is a genetic evaluation indicated?

    abstract::A study of the association between aneuploidy and fetal choroid plexus cysts (CPCs) is presented. By reviewing the world prospective and retrospective studies, one cannot reach an agreed conclusion since different study designs were used and meta analysis is not feasible. Our experience is that as a solitary ultrasono...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Sharony R

    更新日期:1997-06-01 00:00:00

  • The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency.

    abstract:OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Bronshtein M,Zimmer EZ,Blazer S

    更新日期:2008-11-01 00:00:00

  • Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study.

    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

    pub_type: 杂志文章


    authors: Tsui NB,Wong BC,Leung TY,Lau TK,Chiu RW,Lo YM

    更新日期:2009-11-01 00:00:00

  • Renal vascularization indexes and fetal hemodynamics in fetuses with growth restriction.

    abstract:OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Doro GF,Senra JC,Rodrigues AS,Miyadahira S,Ribeiro RL,Francisco RPV,Bernardes LS

    更新日期:2017-08-01 00:00:00

  • Prenatal detection of trisomy 9 mosaicism.

    abstract::Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism--an inconsequential tissue culture artefact; or (2) true mosaicism--occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outco...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Schwartz S,Ashai S,Meijboom EJ,Schwartz MF,Sun CC,Cohen MM

    更新日期:1989-08-01 00:00:00

  • Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome.

    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

    pub_type: 杂志文章,评审


    authors: Viljoen DL,Jaquire Z,Woods DL

    更新日期:1991-03-01 00:00:00

  • First-trimester free beta (hCG) screening for Down syndrome.

    abstract::Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta an...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Macri JN,Spencer K,Aitken D,Garver K,Buchanan PD,Muller F,Boue A

    更新日期:1993-07-01 00:00:00

  • Invasive assessment of fetal renal abnormalities: urinalysis, fetal blood sampling and biopsy.

    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

    pub_type: 杂志文章,评审


    authors: Nicolini U,Spelzini F

    更新日期:2001-11-01 00:00:00

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

    abstract:OBJECTIVE:To assess whether existing weight correction formulas for PAPP-A and free-beta-hCG developed for weeks 11 to 14 can be applied to pregnancies in weeks 8 to 10. METHODS:Development of formulas based on limited data sets of 8- to 10-week pregnancies and comparison with existing formulas. Calculation of median ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Sørensen T,Larsen SO,Christiansen M

    更新日期:2005-06-01 00:00:00

  • Proinflammatory macrophage migratory inhibition factor and interleukin-6 are concentrated in pleural effusion of human fetuses with prenatal chylothorax.

    abstract:OBJECTIVES:To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. METHODS:Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17-29 weeks were enrolled as the study group during the period 2003-2005. Their pleural effusion (n = 17) and...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Chen M,Hsieh CY,Shih JC,Chou CH,Ma GC,Chen TH,Lee TH,Tsai HD,Cameron AD,Chen CP

    更新日期:2007-05-01 00:00:00

  • Ethnic variation of fetal nasal bone length between 11-14 weeks' gestation.

    abstract:OBJECTIVE:We sought to compare the fetal nasal bone length (FNBL) between different ethnic groups at 11-14 weeks' gestation. METHODS:FNBL and the FNBL/CRL ratio were measured in patients undergoing first trimester ultrasound for nuchal translucency (NT) and the ethnicity of the patient was recorded under four categori...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Collado F,Bombard A,Li V,Julliard K,Aptekar L,Weiner Z

    更新日期:2005-08-01 00:00:00

  • Transient abnormal fetal cardiac flow patterns at 13 to 17 gestational weeks.

    abstract:OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Bronshtein M,Zimmer EZ,Blazer S,Blumenfeld Z

    更新日期:2012-05-01 00:00:00

  • Fetal pyelectasis: comparison of postnatal renal pathology with unilateral and bilateral pyelectasis.

    abstract::The aim of this study was to determine the prenatal fetal pyelectasis which requires postnatal evaluation. This was a retrospective analysis involving 65 infants with complete urological follow-up; 59 had shown prenatal evidence of pyelectasis using previously published standards. Males were more common in both the no...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Wilson RD,Lynch S,Lessoway VA

    更新日期:1997-05-01 00:00:00

  • Diagnosis of conjoined twins before 16 weeks' gestation: the 4-year experience of one medical center.

    abstract:BACKGROUND:Descriptions of the rarely occurring condition of conjoined twins are sparse. METHODS:We report a case series of four conjoined twin pregnancies diagnosed up to 16 weeks of gestation. One was in a quadruplet in vitro fertilization intracytoplasmic sperm injection (IVF-ICSI) pregnancy of cryopreserved embryo...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Maymon R,Mendelovic S,Schachter M,Ron-El R,Weinraub Z,Herman A

    更新日期:2005-09-01 00:00:00

  • Clinical significance of amniotic-fluid-cell culture failure.

    abstract::Recent reports suggest an increased incidence of chromosomal abnormalities in pregnancies with amniotic fluid-cell culture failure. We retrospectively reviewed the cytogenetic results of 14,165 amniotic fluid samples processed in our laboratory from 1987 to 1996. Ninety-eight per cent of the samples were obtained befo...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Lam YH,Tang MH,Sin SY,Ghosh A

    更新日期:1998-04-01 00:00:00

  • Informed choice in women attending private clinics to undergo first-trimester screening for Down syndrome.

    abstract:OBJECTIVES:Informed choice for prenatal screening has long been considered an essential aspect of service provision, and has been researched extensively in the second trimester. This study aims at examining whether women having first-trimester screening in a private clinic had made an informed choice. METHODS:A cross-...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Jaques AM,Sheffield LJ,Halliday JL

    更新日期:2005-08-01 00:00:00

  • Biometric assessments of the posterior fossa by fetal MRI: A systematic review.

    abstract:BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Mckinnon K,Kendall GS,Tann CJ,Dyet L,Sokolska M,Baruteau KP,Marlow N,Robertson NJ,Peebles D,Srinivasan L

    更新日期:2020-11-29 00:00:00

  • The subarachnoid space: normal fetal development as demonstrated by transvaginal ultrasound.

    abstract::Enlargement of the subarachnoid spaces can be seen in the following conditions: communicating hydrocephalus, brain atrophy and benign enlargement of the subarachnoid spaces. These disorders may begin in utero. There are no established normograms for the fetal subarachnoid spaces. This study was conducted in order to d...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Malinger G,Lerman-Sagie T,Achiron R,Lipitz S

    更新日期:2000-11-01 00:00:00