The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry

British Journal of Obstetrics and Gynaecology
S M Verdin, D L Economides

Abstract

To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening. A retrospective study of 459 pregnancies. Fetal Medicine Unit, Royal Free Hospital. Four hundred and fifty-nine pregnant women, including four twin pregnancies, registered at the Royal Free Hospital, who were considered screen positive (risk > 1:250) based on the results of mid-trimester biochemical markers (maternal serum free beta human chorionic gonadotrophin and alpha-fetoprotein). The ultrasound markers that were examined included structural defects, shortened femur length, echogenic bowel, dilation of the renal pelvis and choroid plexus cysts. The likelihood ratios for trisomy 21 for each of these markers were calculated. Of the 463 fetuses which were screen positive, 449 (97%) had a normal karyotype detected by amniocentesis (n = 344) or postnatal follow up (n = 105). Fourteen fetuses had an abnormal karyotype including 11 (2.4%) with trisomy 21. Ultrasound markers were found in 9/11 (81.8%) fetuses with trisomy 21, compared with 44/449 (9.8%) with a normal karyotype. Detection of one or more ultrasonograp...Continue Reading

References

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Citations

May 1, 2002·Prenatal Diagnosis·Thomas D Shipp, Beryl R Benacerraf
May 20, 2000·The Journal of Perinatal & Neonatal Nursing·C Kubas
May 6, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G R Devore
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May 29, 2003·Seminars in Perinatology·Ray Bahado-SinghMaurice J Mahoney
Aug 18, 2005·Seminars in Perinatology·Ray O Bahado-SinghMaurice J Mahoney
Jan 31, 2002·Clinics in Perinatology·D A Nyberg, V L Souter
Jun 9, 2015·Research Synthesis Methods·Thomas A TrikalinosChristopher H Schmid
Nov 22, 2001·American Journal of Obstetrics and Gynecology·J F EganP A Benn
Mar 26, 2004·American Journal of Obstetrics and Gynecology·Joseph R BiggioJeffery S A Stringer
Nov 13, 2001·BJOG : an International Journal of Obstetrics and Gynaecology·G D MichailidisD L Economides
Feb 13, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S M VerdinD L Economides
Jun 2, 2004·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P RosatiL Guariglia
Mar 21, 2007·Prenatal Diagnosis·Rebecca Smith-BindmanJames D Goldberg
May 2, 2007·Obstetrics and Gynecology·Boaz WeiszCharles H Rodeck
Feb 17, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Fionnuala M BreathnachFergal D Malone

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