Maternal anxiety and ultrasound markers for aneuploidy in a multiethnic population.


OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical survey over a one-year period were administered the State-Trait Anxiety Inventory (STAI) for Adults before and after the procedure. Women with isolated fetal markers for aneuploidy were notified of the findings but discouraged from pursuing amniocentesis. Rates of normal US examination, aneuploidy markers, anomalies, amniocentesis, and pregnancy outcomes were assessed across the ethnic groups. Pre- and post-ultrasound STAI surveys were scored and standardized with previously established norms. Student t-tests, Chi-square, and analysis of variance (ANOVA) were used where appropriate. RESULTS:Among the 798 patients tested, 57% were Hispanic, 30% were Asian, 6% were Black, and 7% were White. Maternal anxiety level was decreased in women after a normal US. The anxiety level increased with aneuploidy markers and was the highest with anomalies. Aneuploidy markers were more common among Hispanic and Asian fetuses, without any associated aneuploidy. Women with isolated aneuploidy markers underwent amniocentesis as often as women with advanced maternal age. CONCLUSION:The detection and communication of isolated aneuploidy markers is associated with increased maternal anxiety and unnecessary amniocentesis.


Prenat Diagn


Prenatal diagnosis


Lee MJ,Roman AS,Lusskin S,Chen D,Dulay A,Funai EF,Monteagudo A




Has Abstract


2007-01-01 00:00:00












  • The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure.

    abstract:OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Grati FR,Bajaj K,Malvestiti F,Agrati C,Grimi B,Malvestiti B,Pompilii E,Maggi F,Gross S,Simoni G,Ferreira JC

    更新日期:2015-10-01 00:00:00

  • Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.

    abstract::Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenate...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Lam CW,Sin SY,Lau ET,Lam YY,Poon P,Tong SF

    更新日期:2000-09-01 00:00:00

  • Maternoembryonic transfusion and congenital malformations.

    abstract::There is an increasing number of reports relating chorionic villus sampling (CVS) to transverse limb reduction defects or the oromandibular limb hypogenesis complex. In addition, a correlation has been established between the severity of the defect and the gestational age when CVS is performed. Several hypotheses have...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: van der Zee DC,Bax KM,Vermeij-Keers C

    更新日期:1997-01-01 00:00:00

  • Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts.

    abstract:OBJECTIVE:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Kim SK,Hannum G,Geis J,Tynan J,Hogg G,Zhao C,Jensen TJ,Mazloom AR,Oeth P,Ehrich M,van den Boom D,Deciu C

    更新日期:2015-08-01 00:00:00

  • Prenatal ultrasound diagnosis of Toriello-Carey syndrome.

    abstract::Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome bas...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Paladini D,Russo MG,Tartaglione A,Loffredo A,Martinelli P

    更新日期:2002-12-01 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

  • Can fetal gastroschisis always be diagnosed prenatally?

    abstract::Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Knott PD,Colley NV

    更新日期:1987-10-01 00:00:00

  • The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

    abstract::Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Mowery-Rushton PA,Stadler MP,Kochmar SJ,McPherson E,Surti U,Hogge WA

    更新日期:1997-03-01 00:00:00

  • Prenatal screening for chromosome abnormalities using maternal serum chorionic gonadotrophin, alpha-fetoprotein, and age.

    abstract::Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 mult...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Crossley JA,Aitken DA,Connor JM

    更新日期:1991-02-01 00:00:00

  • Simulation-based fetal shunting training.

    abstract:OBJECTIVES:To develop a simulation model and assess the learning curve of fetal shunting. METHODS:Three staff and three trainees performed fetal shunting on a model using the fetal bladder stent. The model was evaluated according to various sources of validity evidence. The number of procedures to reach competency was...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Phithakwatchara N,Nawapun K,Viboonchart S,Jaingam S,Wataganara T

    更新日期:2019-12-01 00:00:00

  • Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.

    abstract:OBJECTIVES:Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). METHODS:High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative g...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Simovich MJ,Yatsenko SA,Kang SH,Cheung SW,Dudek ME,Pursley A,Ward PA,Patel A,Lupski JR

    更新日期:2007-12-01 00:00:00

  • Trisomy 12 mosaicism detected by mid-trimester amniocentesis.

    abstract::Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Petrella R,Hirschhorn K

    更新日期:1990-12-01 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

  • 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

  • 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

  • Prenatal diagnosis and fetal pathology of partial trisomy 20P-monosomy 4P resulting from paternal translocation.

    abstract::Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Vamos E,Pratola D,Van Regemorter N,Freund M,Flament-Durand J,Rodesch F

    更新日期:1985-05-01 00:00:00

  • Applicability of DNA isolated from syncytiotrophoblast vesicles to gene amplification and molecular analysis.

    abstract::Maternal contamination of fetal DNA represents a major problem when highly sensitive molecular techniques are used in the prenatal diagnosis of genetic diseases. For this reason, we have studied the possibility of using DNA isolated from syncytiotrophoblast vesicles as a target of gene amplification (PCR). Three PCR s...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Colucci G,Pesenti E,Molteni E,Lobbiani A,De Andreis C,Pariani S,Rossella F,Semprini AE,Simoni G

    更新日期:1993-05-01 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

  • The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008.

    abstract:OBJECTIVE:Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. METHOD:The number of tests per Down, Edwards or Patau syndrome diagnosis adjus...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Morris JK,Waters JJ,de Souza E

    更新日期:2012-06-01 00:00:00

  • Placental and fetal hemodynamics in prolonged pregnancies.

    abstract:OBJECTIVE:We hypothesized that Doppler measurements of the placental and fetal central and peripheral hemodynamics would predict adverse outcomes in prolonged uncomplicated singleton pregnancies. METHOD:A total of 160 participants were recruited to this study. Doppler measurements of placental and fetal hemodynamics a...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Kauppinen T,Kantomaa T,Tekay A,Mäkikallio K

    更新日期:2016-07-01 00:00:00

  • Fetal tricuspid valve Doppler at 11-13 weeks and 6 days: reference values and reproducibility.

    abstract:OBJECTIVE:To determine normal blood flow velocities across the fetal tricuspid valve (TV) at 11-13 weeks and 6 days of gestation and to examine the reproducibility of these measurements. METHODS:A prospective study involving 166 normal singleton pregnancies examined at 11-13 weeks and 6 days was carried out. Descripti...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Ninno MA,Liao AW,Lamberty CO,Miguelez J,Zugaib M

    更新日期:2010-08-01 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

  • Cost-effectiveness of prenatal screening for thalassaemia in Hong Kong.

    abstract:OBJECTIVES:To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaemia. METHODS:We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. RESULTS:18,936 women were screened at our prenatal clinic an...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Leung KY,Lee CP,Tang MH,Lau ET,Ng LK,Lee YP,Chan HY,Ma ES,Chan V

    更新日期:2004-11-01 00:00:00

  • Second-trimester uterine artery Doppler, PlGF, sFlt-1, sEndoglin, and lipid-related markers for predicting preeclampsia in a high-risk population.

    abstract:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Diguisto C,Le Gouge A,Piver E,Giraudeau B,Perrotin F

    更新日期:2013-11-01 00:00:00

  • How do women of diverse backgrounds value prenatal testing outcomes?

    abstract:OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San F...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Kuppermann M,Nease RF Jr,Gates E,Learman LA,Blumberg B,Gildengorin V,Washington AE

    更新日期:2004-06-01 00:00:00

  • Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case.

    abstract::We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Wolstenholme J,White I,Sturgiss S,Carter J,Plant N,Goodship JA

    更新日期:2001-10-01 00:00:00

  • Left ventricular obstruction with restrictive inter-atrial communication leads to retardation in fetal lung maturation.

    abstract:OBJECTIVE:Intact atrial septum or highly restrictive inter-atrial communication (I/HRAS) combined with either severe aortic stenosis (SAS) or hypoplastic left heart syndrome (HLHS), respectively, is associated with adverse outcome. This study focusses on changes in alveolo-septal lung parenchyma due to increased left a...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Goltz D,Lunkenheimer JM,Abedini M,Herberg U,Berg C,Gembruch U,Fischer HP

    更新日期:2015-05-01 00:00:00

  • Amniotic fluid analysis in a fetus with laryngeal atresia.

    abstract::Complete laryngeal atresia is a rare congenital malformation that is known to cause hypertrophy of the fetal lung in utero. A fetus with laryngeal atresia was found to have markedly immature amniotic fluid lung maturity studies at term. Inappropriately low amniotic fluid lung maturity studies may be an important clue ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Watson WJ,Munson DP

    更新日期:1995-06-01 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

  • Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11).

    abstract::Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Se...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Lambert I,Kemp J,Jackson J,Joyce H,Mann S,Kan A,Smith A

    更新日期:1994-06-01 00:00:00