Cystic adenomatoid malformation of the lung: prenatal diagnosis and outcome.


:During an 8-year period (1984-1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17-39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different types of CAM, associated malformations, and outcome. The lesions were macrocystic in 78 (59 per cent) and microcystic in 54 (41 per cent) of the cases. CAM was left-sided in 51 per cent, right-sided in 35 per cent, and bilateral in 14 per cent of the fetuses. In 15 (11 per cent) of the fetuses there were additional malformations and 57 (43 per cent) were hydropic. The pregnancy was electively terminated in 44 (33 per cent) of the cases, including all those with bilateral CAM. There were six (5 per cent) intrauterine deaths, five in association with hydrops, and one with growth retardation and heart defect. Of the 82 (62 per cent) infants that were liveborn, 21 (26 per cent) died in the neonatal period, 15 before and six after surgery. Of the 61 survivors, 16 (26 per cent) did not require surgery. In the 88 cases where the pregnancy was not terminated, survival was better if the CAM was macrocystic (74 per cent versus 58 per cent for microcystic), if there was no hydrops (92 per cent versus 21 per cent for hydrops), and if the amniotic fluid volume was normal or decreased (82 per cent versus 53 per cent for polyhydramnios).


Prenat Diagn


Prenatal diagnosis


Thorpe-Beeston JG,Nicolaides KH




Has Abstract


1994-08-01 00:00:00












  • Genetic amniocentesis in twin pregnancy.

    abstract::Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal l...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Bovicelli L,Michelacci L,Rizzo N,Orsini LF,Pilu G,Montacuti V,Bacchetta M,Pittalis MC

    更新日期:1983-04-01 00:00:00

  • Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

    abstract::A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed. ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Pachì A,Giancotti A,Torcia F,de Prosperi V,Maggi E

    更新日期:1989-03-01 00:00:00

  • Accuracy of self-reported smoking status in first trimester aneuploidy screening.

    abstract:OBJECTIVES:To review the accuracy of self-reporting of smoking status in our first trimester screening population and to assess the levels of pregnancy-associated plasma protein-A (PAPP-A) and free-β human chorionic gonadotropin (free-hCGβ) in women who were classified for smoking status by serum cotinine concentration...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Spencer K,Cowans NJ

    更新日期:2013-03-01 00:00:00

  • Fetal brain-sparing after laser surgery for twin-twin transfusion syndrome appears associated with two-year neurodevelopmental outcomes.

    abstract:OBJECTIVE:The cerebroplacental ratio (CPR) is a semi-quantitative marker for fetal brain-sparing. Our purpose was to measure the CPR at the time of treatment with selective laser photocoagulation of communicating vessels in gestations with twin-twin transfusion syndrome (TTTS) to test its association with neurological ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Chmait RH,Chon AH,Schrager SM,Llanes A,Hamilton A,Vanderbilt DL

    更新日期:2016-01-01 00:00:00

  • Prenatal diagnosis of beta-thalassaemia and sickle cell anaemia in Turkey.

    abstract::This paper reports our experience of molecular analysis and diagnosis of beta-thalassaemia and sickle cell anaemia (HbS) in 70 prospective parents of Turkish descent and their fetuses. Molecular screening was carried out by allele-specific oligonucleotide (ASO) hybridization of amplified DNA to the 12 most common muta...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Tüzmen S,Tadmouri GO,Ozer A,Baig SM,Ozçelik H,Başaran S,Başak AN

    更新日期:1996-03-01 00:00:00

  • Prenatal ultrasound detection of bilateral focal polymicrogyria.

    abstract:OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Delle Urban LA,Righini A,Rustico M,Triulzi F,Nicolini U

    更新日期:2004-10-01 00:00:00

  • Maternal serum alpha-fetoprotein and fetal triploidy.

    abstract::Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Pircon RA,Towers CV,Porto M,Gocke SE,Garite TJ

    更新日期:1989-10-01 00:00:00

  • Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

    abstract:OBJECTIVE:The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. METHODS:We report two families presenting with prenatally detected hyperechogenic kidneys. In f...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Jones GE,Mousa HA,Rowley H,Houtman P,Vasudevan PC

    更新日期:2015-12-01 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

  • A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

    abstract::Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Ioulianos A,Wells D,Harper JC,Delhanty JD

    更新日期:2000-07-01 00:00:00

  • Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies.

    abstract::Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Besley GT,Cohen PT,Faed MJ,Wolstenholme J

    更新日期:1983-01-01 00:00:00

  • Prenatal diagnosis of thalassemia: the viewpoint of patients.

    abstract::Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Schilirò G,Romeo MA,Mollica F

    更新日期:1988-03-01 00:00:00

  • The association of echogenic fetal lungs with trisomy 21.

    abstract:OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Grobman WA,Wang E,Shulman LP

    更新日期:2005-03-01 00:00:00

  • The thick heterogeneous (jellylike) placenta: a strong predictor of adverse pregnancy outcome.

    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

    pub_type: 杂志文章,评审


    authors: Raio L,Ghezzi F,Cromi A,Nelle M,Dürig P,Schneider H

    更新日期:2004-03-01 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

  • What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy?

    abstract:OBJECTIVE:This study aimed to examine the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening. METHODS:A retrospective cohort study of women at increased risk for aneuploidy based on age or medical history and negative cell-free DNA screening between March 2012 and March 2014 was condu...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Reiff ES,Little SE,Dobson L,Wilkins-Haug L,Bromley B

    更新日期:2016-03-01 00:00:00

  • Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling.

    abstract::During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Tharapel AT,Ward JC,Wiggins L,Wilroy RS Jr

    更新日期:1986-01-01 00:00:00

  • Cervical teratoma: prenatal diagnosis and long-term follow-up.

    abstract::Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation with paediatric su...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Kerner B,Flaum E,Mathews H,Carlson DE,Pepkowitz SH,Hixon H,Graham JM Jr

    更新日期:1998-01-01 00:00:00

  • Uterine artery Doppler longitudinal changes in pregnancies complicated with intrauterine growth restriction without preeclampsia.

    abstract:OBJECTIVE:The objective of this article is to evaluate the longitudinal changes in uterine artery Doppler pulsatility index (UtA-PI) in pregnancies complicated with early onset intrauterine growth restriction (IUGR). METHOD:Case-control study comparing UtA-PI from 20 to 34 weeks gestation in pregnancies affected by IU...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Contro E,Cha DH,De Maggio I,Ismail SY,Falcone V,Gabrielli S,Farina A

    更新日期:2014-12-01 00:00:00

  • The predictive value of cytogenetic diagnosis after CVS: 1500 cases.

    abstract::The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Breed AS,Mantingh A,Beekhuis JR,Kloosterman MD,ten Bolscher H,Anders GJ

    更新日期:1990-02-01 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

  • Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.

    abstract::Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human ...

    journal_title:Prenatal diagnosis

    pub_type: 临床试验,杂志文章


    authors: Wapner RJ,Driscoll DA,Simpson JL

    更新日期:2012-04-01 00:00:00

  • Dilatation of the supra-pineal recess on prenatal imaging: early clue for obstructive ventriculomegaly downstream of the third ventricle.

    abstract:OBJECTIVE:The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly. METHOD:A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our inst...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Azzi C,Giaconia MB,Lacalm A,Massoud M,Gaucherand P,Guibaud L

    更新日期:2014-04-01 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

  • Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array.

    abstract:OBJECTIVE:This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS:A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Liao C,Li R,Fu F,Xie G,Zhang Y,Pan M,Li J,Li D

    更新日期:2014-09-01 00:00:00

  • Second-trimester prenatal screening for trisomy 21 using biochemical markers: a 7-year experience in one cytogenetic laboratory.

    abstract:BACKGROUND:Screening for trisomy 21 in the second trimester of pregnancy using biochemical markers is an established part of prenatal care in many developed countries. OBJECTIVE:The present study was aimed at determining the incidence of trisomy 21 and other chromosomal abnormalities in women undergoing prenatal chrom...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Marical H,Douet-Guilbert N,Bages K,Collet M,Le Bris MJ,Morel F,De Braekeleer M

    更新日期:2006-04-01 00:00:00

  • Patient preferences for screening in the first trimester.

    abstract:OBJECTIVE:We theorized that a significant number of women would choose integrated screening (IS) over first trimester screening (FTS) and that demographic characteristics and baseline anxiety levels might predict which patients would choose each test. We also hypothesized that screening results might alter patients' fu...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Werner EF,Pastore LM,Karns LB,Ventura KA,Saller DN

    更新日期:2008-12-01 00:00:00

  • Detection of fetal-specific DNA after enrichment for trophoblasts using the monoclonal antibody LK26 in model systems but failure to demonstrate fetal DNA in maternal peripheral blood.

    abstract::Trophoblast cells can be detected in maternal blood during normal human pregnancy and DNA from these cells may be used for non-invasive prenatal diagnosis of inherited diseases. The possibility of enriching trophoblast cells from maternal blood samples using a monoclonal antibody (LK26) against a folate-binding protei...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Hviid TV,Sørensen S,Morling N

    更新日期:1999-03-01 00:00:00

  • High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation.

    abstract::We report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that the father had a subtle translocation between chromosome 5 and chromosome 13, 46, XY, t(5;13) (q35.2;q34). Two specific, non-routine techniques were associated ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Guichet A,Briault S,Moraine C

    更新日期:1998-04-01 00:00:00

  • Synchronization of amniotic fluid cells for high resolution cytogenetics.

    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

    pub_type: 杂志文章


    authors: Qu J,Dallaire L,Lemieux N,Drouin R,Richer CL

    更新日期:1989-01-01 00:00:00