Maternal serum CA 125 for aneuploidy detection in early pregnancy.


: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.


Prenat Diagn


Prenatal diagnosis


Norton ME,Golbus MS




Has Abstract


1992-09-01 00:00:00












  • Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn.

    abstract::A case of true fetal mosaicism 46,XY/47,XY, + 17 was diagnosed in amniotic fluid cells. After genetic counselling and unsuccessful periumbilical blood sampling the pregnancy continued to term, and a healthy male infant was born. Lymphocytes of the newborn had a normal karyotype. Follow-up of the child at age 18 months...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Djalali M,Barbi G,Grab D

    更新日期:1991-06-01 00:00:00

  • Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk.

    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

    pub_type: 杂志文章


    authors: Van Lith JM,Faas BH,Bianchi DW

    更新日期:2015-01-01 00:00:00

  • Late Gestation Predictors of a Postnatal Biventricular Circulation after Fetal Aortic Valvuloplasty.

    abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Beattie MJ,Friedman KG,Sleeper LA,Lu M,Drogosz M,Callahan R,Marshall AC,Prosnitz AR,Lafranchi T,Benson CB,Wilkins-Haug LE,Tworetzky W

    更新日期:2021-01-18 00:00:00

  • Pseudomosaicism, true mosaicism, and maternal cell contamination in amniotic fluid processed with in situ culture and robotic harvesting.

    abstract::This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Moertel CA,Stupca PJ,Dewald GW

    更新日期:1992-08-01 00:00:00

  • Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère).

    abstract:OBJECTIVES:This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. DESIGN OF THE STUDY:This is an epidemiological study. The geographic area covered is the French county...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Guillem P,Fabre B,Cans C,Robert-Gnansia E,Jouk PS

    更新日期:2003-11-01 00:00:00

  • Prenatal exclusion of Stickler syndrome.

    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

    pub_type: 杂志文章


    authors: Zlotogora J,Granat M,Knowlton RG

    更新日期:1994-02-01 00:00:00

  • Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.

    abstract::Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we r...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Savas S,Eraslan S,Kantarci S,Karaman B,Acarsoz D,Tükel T,Cogulu O,Ozkinay F,Basaran S,Aydinli K,Yuksel-Apak M,Kirdar B

    更新日期:2002-08-01 00:00:00

  • Women's opinions on the offer and use of prenatal diagnosis.

    abstract::We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedure...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Tymstra TJ,Bajema C,Beekhuis JR,Mantingh A

    更新日期:1991-12-01 00:00:00

  • Evaluating patient's knowledge of maternal serum screening.

    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

    pub_type: 杂志文章


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

    更新日期:1996-05-01 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

  • Early diagnosis of duodenal atresia and possible sonographic pitfalls.

    abstract::The sonographic diagnosis of duodenal atresia and associated anomalies was made in a fetus at 15 weeks' gestation. A transient double-bubble sign was observed in three other normal fetuses. Sonographers are cautioned that normal intestinal peristalsis may cause a false image of duodenal atresia. ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Zimmer EZ,Bronshtein M

    更新日期:1996-06-01 00:00:00

  • Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: a multiparametric study involving transmission electron microscopy and fetal DNA amplification.

    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

    pub_type: 杂志文章


    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

  • Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.

    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

    pub_type: 杂志文章


    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

  • 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

  • Human chorionic gonadotropin and unconjugated oestriol measurements in insulin-dependent diabetic pregnant women being screened for fetal Down syndrome.

    abstract::This prospective study investigates the relationship between insulin-dependent diabetes and maternal serum levels of alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG). It also examines the potential impact on screening for Down syndrome. The population-based cohort included 2...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Palomaki GE,Knight GJ,Haddow JE

    更新日期:1994-01-01 00:00:00

  • Prenatal assessment and management of sacrococcygeal teratoma.

    abstract::Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21,700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to docum...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Gucciardo L,Uyttebroek A,De Wever I,Renard M,Claus F,Devlieger R,Lewi L,De Catte L,Deprest J

    更新日期:2011-07-01 00:00:00

  • Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice.

    abstract::Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no large-scale studies ha...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Ray PF,Ao A,Taylor DM,Winston RM,Handyside AH

    更新日期:1998-12-01 00:00:00

  • A comparison of amniotic fluid alpha-fetoprotein and acetylcholinesterase in the prenatal diagnosis of open neural tube defects and anterior abdominal wall defects.

    abstract::Amniotic fluid samples received for routine prenatal diagnosis of open neural tube defects were used for a study to compare amniotic fluid acetylcholinesterase (AChE) determination using a monoclonal antibody (4F19) enzyme antigen immunoassay and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests f...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Loft AG,Høgdall E,Larsen SO,Nørgaard-Pedersen B

    更新日期:1993-02-01 00:00:00

  • Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.

    abstract:OBJECTIVE:This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD:A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal gestational age, tim...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Beulen L,Grutters JP,Faas BH,Feenstra I,Groenewoud H,van Vugt JM,Bekker MN

    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

  • Mosaicism for trisomy 12: four cases with varying outcomes.

    abstract::Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromoso...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Bischoff FZ,Zenger-Hain J,Moses D,Van Dyke DL,Shaffer LG

    更新日期:1995-11-01 00:00:00

  • Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant.

    abstract::Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Mostello D,Hoechstetter L,Bendon RW,Dignan PS,Oestreich AE,Siddiqi TA

    更新日期:1991-04-01 00:00:00

  • Understanding the opposition.

    abstract::Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Baldwin T

    更新日期:2006-07-01 00:00:00

  • Maternal education modifies the age-related increase in the birth prevalence of Down syndrome.

    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

    pub_type: 杂志文章


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

    更新日期:2004-02-01 00:00:00

  • A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus.

    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

    pub_type: 杂志文章


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

    更新日期:2002-02-01 00:00:00

  • Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study.

    abstract:OBJECTIVES:Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies. METHODS:This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramn...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Depla AL,Breugem CC,van der Horst CM,de Heus R,van den Boogaard MH,Maas SM,Pajkrt E,Bekker MN

    更新日期:2017-02-01 00:00:00

  • Effects of chemotherapy during pregnancy on the maternal and fetal heart.

    abstract:OBJECTIVE:The co-occurrence of cancer and pregnancy is more frequently diagnosed. The effects of cancer treatment on maternal and fetal outcomes are less well known. The cardiotoxic effects of chemotherapy are a specific concern for the mother and fetus. We wanted to review the existing literature, mainly consisting of...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Gziri MM,Amant F,Debiève F,Van Calsteren K,De Catte L,Mertens L

    更新日期:2012-07-01 00:00:00

  • Microarray analysis: First-trimester maternal serum free β-hCG and the risk of significant copy number variants.

    abstract:OBJECTIVE:To determine whether abnormal levels of first-trimester maternal serum free β-hCG and PAPP-A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). METHODS:Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benig...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Bornstein E,Gulersen M,Krantz D,Cheung SW,Maliszewski K,Divon MY

    更新日期:2018-11-01 00:00:00

  • Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.

    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

    pub_type: 杂志文章


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

    更新日期:2006-05-01 00:00:00

  • Conflict of interest related to clinical practice is underreported: The case of noninvasive prenatal testing.

    abstract::Authors of policy statements from the American College of Obstetricians and Gynecologists and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Wolfberg AJ

    更新日期:2018-02-01 00:00:00