Expression of fragile-X in a female fetus diagnosed after chorionic villus sampling.


:Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution of X-inactivation in FRAXA-positive chorionic villus cells of a female fetus might indicate her future phenotype.


Prenat Diagn


Prenatal diagnosis


Webb T




Has Abstract


1991-05-01 00:00:00












  • Detection of aneuploidy from single fetal nucleated red blood cells using whole genome sequencing.

    abstract:OBJECTIVE:The objective of the study was to detect aneuploidy in single fetal nucleated red blood cells (FNRBCs) from placental villi using whole genome amplification (WGA) and next generation sequencing. METHODS:Three single FNRBCs per sample were manually picked from villi collected from ten women undergoing electiv...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Hua R,Barrett AN,Tan TZ,Huang Z,Mahyuddin AP,Ponnusamy S,Sandhu JS,Ho SS,Chan JK,Chong S,Quan S,Choolani M

    更新日期:2015-07-01 00:00:00

  • Normal and abnormal fetal cardiac anatomy.

    abstract::The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology,...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Cook AC,Yates RW,Anderson RH

    更新日期:2004-12-30 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

  • Umbilical cord pseudocyst in trisomy 18.

    abstract::Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishi...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Jauniaux E,Donner C,Thomas C,Francotte J,Rodesch F,Avni FE

    更新日期:1988-10-01 00:00:00

  • Human maternal uniparental disomy for chromosome 16 and fetal development.

    abstract::Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of t...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Vaughan J,Ali Z,Bower S,Bennett P,Chard T,Moore G

    更新日期:1994-08-01 00:00:00

  • Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.

    abstract:BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Malan V,Martinovic J,Sanlaville D,Caillat S,Waill MC,Ganne ML,Tantau J,Attie-Bitach T,Vekemans M,Morichon-Delvallez N

    更新日期:2006-03-01 00:00:00

  • Fetal pleural effusion.

    abstract::Fetal pleural effusion, a nonspecific accumulation of fluid in the pleural space, is an uncommon anomaly which can be associated with aneuploidy and a range of other structural malformations or genetic syndromes. Spontaneous resolution is not rare and confers a good prognosis. Perinatal outcome is better for those fet...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Rustico MA,Lanna M,Coviello D,Smoleniec J,Nicolini U

    更新日期:2007-09-01 00:00:00

  • Morphometric human embryonic brain features according to developmental stage.

    abstract:OBJECTIVES:The present study investigated linear, area, and volume measurements of human brain samples according to Carnegie stages (CS) in an attempt to select suitable morphometric features that reflect embryonic development. METHODS:Using magnetic resonance imaging, we measured seven linear segments, three separate...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Kobayashi A,Ishizu K,Yamada S,Uwabe C,Kose K,Takakuwa T

    更新日期:2016-04-01 00:00:00

  • Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.

    abstract:OBJECTIVE:Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. METHOD:Diagnostic test...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Van Opstal D,van Veen S,Joosten M,Diderich KEM,Govaerts LCP,Polak J,van Koetsveld N,Boter M,Go ATJI,Papatsonis DNM,Prinsen K,Hoefsloot LH,Srebniak MI

    更新日期:2019-10-01 00:00:00

  • The association of umbilical cord hemangioma with fetal vascular birthmarks.

    abstract:OBJECTIVE:To report a rare case of umbilical cord hemangioma and to discuss its association with vascular birthmarks. METHODS:A case of umbilical cord hemangioma diagnosed by ultrasound at 28 weeks of gestation is reported. After labor induction at 38 weeks of gestation, a male infant was born. Examination of the newb...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Daniel-Spiegel E,Weiner E,Gimburg G,Shalev E

    更新日期:2005-04-01 00:00:00

  • Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes.

    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

    pub_type: 杂志文章


    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

  • Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome.

    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

    pub_type: 杂志文章


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

    更新日期:2002-09-01 00:00:00

  • Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection.

    abstract::This report describes a case of a paternal balanced, but apparently non-reciprocal, insertion of chromosome 15 material into the short arm of chromosome 17 with difficulties in distinguishing between the normal and the deleted chromosome 15 in prenatal karyotype analysis. Microdissection and degenerate oligonucleotide...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Senger G,Chudoba I,Friedrich U,Tommerup N,Claussen U,Brøndum-Nielsen K

    更新日期:1997-04-01 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

  • Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening.

    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

    pub_type: 杂志文章


    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

  • Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.

    abstract::Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of flu...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Reeser SL,Donnenfeld AE,Miller RC,Sellinger BS,Emanuel BS,Driscoll DA

    更新日期:1994-11-01 00:00:00

  • More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population.

    abstract:OBJECTIVES:The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation. METHODS:During a 3-year study period, 245 fetuses r...

    journal_title:Prenatal diagnosis

    pub_type: 临床试验,杂志文章


    authors: Perlman S,Bilik R,Leibovitch L,Katorza E,Achiron R,Gilboa Y

    更新日期:2014-12-01 00:00:00

  • Prenatal and postnatal markers of severity in congenital diaphragmatic hernia have similar prognostic ability.

    abstract:OBJECTIVES:The purpose of this study was to compare prenatal versus postnatal markers of congenital diaphragmatic hernia (CDH) severity at a single fetal-care center. METHODS:A retrospective study was performed of patients having a complete prenatal evaluation and surgical repair (n = 55). Observed-to-expected lung-to...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Werner NL,Coughlin M,Kunisaki SM,Hirschl R,Ladino-Torres M,Berman D,Kreutzman J,Mychaliska GB

    更新日期:2016-02-01 00:00:00

  • Fetal cells and DNA in maternal blood.

    abstract::Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success or failure. The o...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Jackson L

    更新日期:2003-10-01 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 mosaic distal 5p deletion and review of the literature.

    abstract:OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Chen CP,Lee CC,Chang TY,Town DD,Wang W

    更新日期:2004-01-01 00:00:00

  • Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

    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

    pub_type: 杂志文章


    authors: Chitty LS,Khalil A,Barrett AN,Pajkrt E,Griffin DR,Cole TJ

    更新日期:2013-05-01 00:00:00

  • In utero acquired limb ischemia in monochorionic twins with and without twin-to-twin transfusion syndrome.

    abstract:OBJECTIVE:To report on the occurrence of in utero acquired limb ischemia in two referral institutions managing monochorionic (MC) twins with and without twin-to-twin transfusion syndrome (TTTS) and estimate its prevalence. METHODS:All MC twin pregnancies assessed at two referral units between 2002 and 2007 were retros...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,多中心研究


    authors: Lopriore E,Lewi L,Oepkes D,Debeer A,Vandenbussche FP,Deprest J,Walther FJ

    更新日期:2008-09-01 00:00:00

  • Fetal capillary haemangioblastoma: an exceptional tumour. A review of the literature.

    abstract::We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was sus...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Diguet A,Laquerrière A,Eurin D,Chanavaz-Lacheray I,Magdeleine Ruchoux M,Rossi A,Marpeau L

    更新日期:2002-11-01 00:00:00

  • The use of transferrin for enrichment of fetal cells from maternal blood.

    abstract::Iron loaded transferrin (holotransferrin) was used for enrichment of fetal cells from peripheral blood of pregnant women. Cord blood samples were used to evaluate enrichment efficacy of single and double MACS separations. Blood samples were obtained from 10 pregnant women prior to chorion villus sampling (CVS). Erythr...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Serlachius M,Von Koskull H,Wessman M,Schröder J

    更新日期:2000-05-01 00:00:00

  • First-trimester maternal serum ADAM12-s and PAPP-A levels are altered in pregnancies conceived after assisted reproduction techniques (ART).

    abstract:OBJECTIVE:The objective of this article is to estimate whether the maternal serum levels of A disintegrin and metalloprotease domain 12 (ADAM12-s), pregnancy-associated plasma protein-A (PAPP-A), and free beta human chorionic gonadotrophin (fβ-hCG) are altered in assisted reproduction techniques (ART) pregnancies. MET...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Sahraravand M,Laitinen P,Järvelä I,Ryynänen M

    更新日期:2016-02-01 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

  • Amniotic fluid fibrinolytic system in fetal neural tube defects.

    abstract::Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Legge M

    更新日期:1983-04-01 00:00:00

  • Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray.

    abstract:OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Gu YZ,Nisbet DL,Reidy KL,Palma-Dias R

    更新日期:2019-01-01 00:00:00

  • The association between anticoagulation therapy, maternal characteristics, and a failed cfDNA test due to a low fetal fraction.

    abstract:OBJECTIVES:The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD:Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Burns W,Koelper N,Barberio A,Deagostino-Kelly M,Mennuti M,Sammel MD,Dugoff L

    更新日期:2017-11-01 00:00:00