Outcome of fetal cerebral posterior fossa anomalies.


INTRODUCTION:Limited data exist on the outcome of Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV) and mega-cisterna magna (MCM). We report the first population-based study of posterior fossa anomalies from the northern region of England. METHODS:Cases were identified from the Northern Congenital Abnormality Survey (NorCAS) and regional Fetal Medicine Unit databases for the period 1986-2004 for DWM/V and 1995-2005 for MCM (defined as a cisterna magna > or =10 mm). Outcome data was obtained from pediatric records and/or general practitioner/health visitor questionnaires for all survivors. RESULTS:A prenatal diagnosis of a posterior fossa abnormality was made in 91 cases, with a further 12 cases of DWM/V diagnosed postnatally, giving incidences of DWM/V and MCM of 1/11574 and 1/8268 births respectively. In five cases where DWM/V was suspected prenatally, the diagnosis was not confirmed. Of the 47 with DWM/V, 41 (87%) had additional anomalies. There were three survivors, all with neurodevelopmental disability. Of the 39 cases of MCM, 24 (62%) had additional anomalies. There were 30 survivors; one child died at 3 months and the outcome was normal in 25 children including 12/13 (92%) with isolated MCM. SUMMARY:Posterior fossa anomalies are relatively common. The outcome is very poor in DWM/V owing to the high rate of associated anomalies. The outcome appears better with MCM, especially if this is an isolated finding.


Prenat Diagn


Prenatal diagnosis


Long A,Moran P,Robson S




Has Abstract


2006-08-01 00:00:00












  • Prenatal ultrasound diagnosis of frontonasal dysplasia.

    abstract::We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Martinelli P,Russo R,Agangi A,Paladini D

    更新日期:2002-05-01 00:00:00

  • Duration of vaginal bleeding and trisomy at prenatal diagnosis.

    abstract::In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appe...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Neugut RH,Lustenberger A,Nicholas A,Kline J,Warburton D

    更新日期:1987-11-01 00:00:00

  • Utility of chromosomal microarray in anomalous fetuses.

    abstract:OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Parchem JG,Sparks TN,Gosnell K,Norton ME

    更新日期:2018-01-01 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

  • Perinatal outcome after maternal primary cytomegalovirus infection in the first trimester: a practical update and counseling aid.

    abstract::Cytomegalovirus (CMV) is the most common cause of congenital infection with approximately 0.5% of pregnant women in developed countries seroconverting during pregnancy. In utero transmission occurs in about one third of women who develop primary infection in the first trimester, and these fetuses are at risk for adver...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Hui L,Wood G

    更新日期:2015-01-01 00:00:00

  • Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.

    abstract::Recently we identified a P408S, P415L allele of beta-glucuronidase in several Mexican patients with mucopolysaccharidosis type VII (Sly syndrome) and presented evidence that both mutations are required to produce the MPS VII allele (Islam et al., 1996). In an attempt to determine whether either of these mutations exis...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Rafiqul Islam M,Gallegos Arreola MP,Wong P,Tomatsu S,Corona JS,Sly WS

    更新日期:1998-08-01 00:00:00

  • Maternal serum CA 125 for aneuploidy detection in early pregnancy.

    abstract::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. ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Norton ME,Golbus MS

    更新日期:1992-09-01 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

  • Fetal surgery for cardiac lesions.

    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

    pub_type: 杂志文章,评审


    authors: Arzt W,Tulzer G

    更新日期:2011-07-01 00:00:00

  • Fetal brain injury in complicated monochorionic pregnancies: diagnostic yield of prenatal MRI following surveillance ultrasound and influence on prognostic counselling.

    abstract:OBJECTIVE:This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS:Women with complicated monochorionic gestations complicated by...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Robinson A,Teoh M,Edwards A,Fahey M,Goergen S

    更新日期:2017-06-01 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

  • Ultrasound imaging of the fetal secondary palate: Methodological description of a two-dimensional approach and a case series.

    abstract:OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Brusilov M,Wolman I,Ashwal E,Malinger G,Birnbaum R

    更新日期:2018-12-01 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

  • Measurements of placental, decidual, and fetal proteins before and after chorionic villus sampling.

    abstract::Circulating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy-associated plasma protein A (PAPP-A), decidual (pregnancy protein 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic vil...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Stabile I,Warren R,Rodeck C,Grudzinskas JG

    更新日期:1988-06-01 00:00:00

  • Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.

    abstract::We investigated a case (I.I.) of the severe form of mucopolysaccharidosis I (Hurler syndrome). Prenatal diagnosis was requested by the parents and the next pregnancy was monitored. We report here a special difficulty arising in this diagnosis due to the low enzyme activity in the mother's cells (10-15 per cent of cont...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Gatti R,Borrone C,Filocamo M,Pannone N,Di Natale P

    更新日期:1985-03-01 00:00:00

  • Attitudes toward prenatal testing and pregnancy termination among a diverse population of parents of children with intellectual disabilities.

    abstract:OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Kuppermann M,Nakagawa S,Cohen SR,Dominguez-Pareto I,Shaffer BL,Holloway SD

    更新日期:2011-12-01 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

  • Prenatal diagnosis of congenital myasthenia with arthrogryposis in a myasthenic mother.

    abstract::We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Stoll C,Ehret-Mentre MC,Treisser A,Tranchant C

    更新日期:1991-01-01 00:00:00

  • The association of crown-rump length discrepancy with birthweight discordance in spontaneous versus IVF monochorionic twins: a multicenter study.

    abstract:OBJECTIVE:The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies. METHOD:This is a multicenter retrospective study on women with twin pregnancies assessed for ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,多中心研究


    authors: Ben-Ami I,Daniel-Spiegel E,Battino S,Melcer Y,Floeck A,Geipel A,Miron P,Maymon R

    更新日期:2015-09-01 00:00:00

  • Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21.

    abstract::Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Langford K,Hodgson S,Seller M,Maxwell D

    更新日期:2000-08-01 00:00:00

  • Size disparity of the choroid plexuses of the lateral ventricles: prenatal diagnosis and neonatal outcome.

    abstract::Fetal choroid plexuses have attracted the attention of perinatologists and geneticists because of the reported association between intrachoroid cysts and chromosomal abnormalities. This report deals with another variation in choroid plexus sonographic appearance-size variation. Sonographic follow-up results as well as...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Petrikovsky BM,Kaplan GP

    更新日期:1996-07-01 00:00:00

  • First-trimester combined screening for Down syndrome: prediction of low birth weight, small for gestational age and pre-term delivery in a cohort of non-selected women.

    abstract:OBJECTIVE:To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth weight, small for gestati...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Pihl K,Sørensen TL,Nørgaard-Pedersen B,Larsen SO,Nguyen TH,Krebs L,Larsen T,Christiansen M

    更新日期:2008-03-01 00:00:00

  • Prenatal ultrasonic findings in congenital chloride diarrhoea.

    abstract::In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Kirkinen P,Jouppila P

    更新日期:1984-11-01 00:00:00

  • Conceiving a fetus for bone marrow donation: an ethical problem in prenatal diagnosis.

    abstract::We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that pr...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,收录出版


    authors: Clark RD,Fletcher J,Petersen G

    更新日期:1989-05-01 00:00:00

  • Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.

    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

    pub_type: 杂志文章


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

    更新日期:1984-09-01 00:00:00

  • Quantitative fluorescence PCR analysis of >40,000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X.

    abstract:OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Mann K,Hills A,Donaghue C,Thomas H,Ogilvie CM

    更新日期:2012-12-01 00:00:00

  • Therapy with intravenous immunoglobulin G (ivIgG) during pregnancy for fetal alloimmune (HPA-1a(Zwa)) thrombocytopenic purpura.

    abstract::We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Giers G,Hoch J,Bauer H,Bald R,Kiefel V,Kroll H,Hansmann M,Hanfland P,Mueller-Eckhardt C,Scharf RE

    更新日期:1996-06-01 00:00:00

  • The frontal space measurement in euploid and aneuploid pregnancies at 11-13 weeks' gestation.

    abstract:OBJECTIVE:The aim of this study is to evaluate whether the measurement of the frontal space (FS) improves first trimester combined aneuploidy screening. METHODS:We have presented a retrospective study including 2D images of the nuchal translucency measurement of 300 euploid and 133 trisomic fetuses that were seen at t...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Yazdi B,Riefler P,Fischmüller K,Sonek J,Hoopmann M,Kagan KO

    更新日期:2013-12-01 00:00:00

  • Prenatal diagnosis of cerebral lesions acquired in utero and with a late appearance.

    abstract::Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in man...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Carletti A,Colleoni GG,Perolo A,Simonazzi G,Ghi T,Rizzo N,Pilu G

    更新日期:2009-04-01 00:00:00

  • Re-evaluation of risk for Down syndrome by means of the combined test in pregnant women of 35 years or more.

    abstract:OBJECTIVE:Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS:The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before d...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Centini G,Rosignoli L,Scarinci R,Faldini E,Morra C,Centini G,Petraglia F

    更新日期:2005-02-01 00:00:00