Ultrasonographically detectable markers of fetal chromosomal abnormalities

Nicolaides, K. H.; Snijders, Rjm; Gosden, C. M.; Berry, Caroline; Campbell, Stuart

doi:10.1016/0020-7292(93)90752-i

Cited by 65 publications

(82 citation statements)

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“…Even though their incidence appears to be quite low, the clustering of these anomalies in these Down syndrome cases is probably related to the underlying chromosomal aberration. Omphalocoele, encephalocoele (Nyberg et al, 1990), hydrocephaly (Nyberg et al, 1990;Mahony et al, 1988), and choroid plexus cysts (Rotmensch et al, 1992b;Nicolaides et al, 1992) were also rarely found in this series, as has been previously reported.…”

Section: Discussionsupporting

confidence: 85%

Prenatal sonographic findings in 187 fetuses with Down syndrome

Rotmensch

Liberati

Bronshtein³

et al. 1997

Prenat. Diagn.

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We determined the type and frequency of abnormal sonographic findings in 187 Down syndrome fetuses. Examinations were performed transvaginally or transabdominally between 9 and 28 weeks' gestation. Consecutive scans performed prior to knowledge of the fetal karyotype (n=144) were analysed separately for one of the participating centres. In 93 fetuses (49·7 per cent), a total of 138 abnormalities were observed. The most commonly detected anomalies were cystic hygroma and increased nuchal fold thickness (30·5 per cent), hydrops (9·6 per cent), cardiac defects (7·5 per cent), pyelectasis or hydronephrosis (5·9 per cent), echogenic bowel (4·8 per cent), and a large variety of internal organ abnormalities (16·0 per cent) which are not typically associated with Down syndrome. Two anomalies or three anomalies in the same fetus were observed in 21 and 5 fetuses, respectively. No patterns of concurrent malformations were apparent among these fetuses. Sensitivity for Down syndrome detection by ultrasound scans performed without knowledge of the fetal karyotype was 24·1 and 42·6 per cent before 13 weeks and between 14 and 23 weeks, respectively. We conclude that structural abnormalities are frequently observed in Down syndrome fetuses, but many sonographic findings are not typically associated with this syndrome. © 1997 John Wiley & Sons, Ltd.

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Section: Discussionsupporting

confidence: 85%

Prenatal sonographic findings in 187 fetuses with Down syndrome

Rotmensch

Liberati

Bronshtein³

et al. 1997

Prenat. Diagn.

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“…Th is rate was much higher than the indications for advanced maternal age and abnormal maternal serum-screening tests when used either alone or together. Fetal anomalies had the highest positive predictive values in previous studies, with rates of 3% and 14% (Han et al 2008;Gaudry et al 2012;Tseng et al 2006;Choi et al 2005;Coskun et al 2009;Nicolaides et al 1992). Since we aimed to evaluate all abnormal fi ndings diagnosed by ultrasonography, we combined the ultrasound markers with abnormal ultrasound fi ndings category.…”

Section: Discussionmentioning

confidence: 77%

Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience

Ekin

Gezer

Taner

et al. 2014

Journal of Obstetrics and Gynaecology

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The aim of our study was to evaluate the incidences and chromosomal abnormality detection rates of various indications for genetic amniocentesis. We retrospectively analysed 6,142 amniocentesis cases performed in a single centre between January 2007 and April 2013. We assessed the indications for prenatal diagnosis, fetal karyotypes, maternal ages, fetal ultrasound findings and maternal serum screening results. The most common indication for genetic amniocentesis was an abnormal maternal serum-screening test (36.6%), followed by advanced maternal age (28%), advanced maternal age and an abnormal maternal serum screening test (14.9%) and abnormal ultrasound findings (11.2%). The highest positive predictive values obtained from the indications included abnormal ultrasound findings and abnormal maternal serum screening test (12.9%) and advanced maternal age (12.2%). Although advanced maternal age and abnormal maternal serum screening tests were the most common indicators, their association with abnormal ultrasound findings should be identified to increase the efficacy of genetic amniocentesis.

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“…There are conflicting views as to how useful ultrasound screening is in preventing the birth of infants with serious birth defects (Nicolaides et al, 1992;Hook, 1992). To increase the information about a given pregnancy, offering cytogenetic analysis to women with abnormal ultrasound findings is becoming more common in the obstetrical community.…”

Section: Introductionmentioning

confidence: 99%