Chorionic villus sampling for abnormal screening compared to historical indications: Prevalence of abnormal karyotypes

Nicole Marshall, Gwen Fraley, Cori Feist, Michael J. Burns, Leonardo Pereira

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Objective: To determine the prevalence of abnormal karyotype results in women undergoing chorionic villus sampling (CVS) for abnormal first trimester screening compared to CVS for historical indications (advanced maternal age (AMA) or prior aneuploidy). Methods: Retrospective cohort of all patients undergoing CVS at Oregon Health & Science University from January 2006 to June 2010. Patients were separated based on CVS indication: (1) positive ultrasound (U/S) or serum screening; or (2) AMA or prior aneuploidy with normal or no screening. Prevalence of abnormal karyotype results were compared between groups. Results: Fetal karyotyping was successful in 500 of 506 CVS procedures performed. 203 CVS were performed for positive screening with 69 abnormal karyotypes (34.0%). 264 CVS were performed for historical indications with 11 abnormal karyotypes (4.2%). This difference was statistically significant (χ2 71.9, p <0.001; OR 11.8 [95% CI 5.8, 24.6]). There were two age-related aneuplodies in AMA women without positive screening. 42 out of 44 AMA women diagnosed with aneuploidy (95.5%) had abnormal U/S and/or serum screening (35 U/S, 4 serum, 3 U/S and serum). Conclusions: Combined ultrasound and serum screening should be recommended to all women, including AMA women, prior to undergoing invasive testing to improve risk-based counseling and minimize morbidity.

Original languageEnglish (US)
Pages (from-to)1463-1466
Number of pages4
JournalJournal of Maternal-Fetal and Neonatal Medicine
Volume25
Issue number8
DOIs
StatePublished - Aug 2012

Fingerprint

Chorionic Villi Sampling
Abnormal Karyotype
Maternal Age
Aneuploidy
Serum
Karyotyping
First Pregnancy Trimester
Counseling
Morbidity
Health

Keywords

  • Advanced maternal age
  • aneuploidy
  • first trimester screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

Cite this

Chorionic villus sampling for abnormal screening compared to historical indications : Prevalence of abnormal karyotypes. / Marshall, Nicole; Fraley, Gwen; Feist, Cori; Burns, Michael J.; Pereira, Leonardo.

In: Journal of Maternal-Fetal and Neonatal Medicine, Vol. 25, No. 8, 08.2012, p. 1463-1466.

Research output: Contribution to journalArticle

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abstract = "Objective: To determine the prevalence of abnormal karyotype results in women undergoing chorionic villus sampling (CVS) for abnormal first trimester screening compared to CVS for historical indications (advanced maternal age (AMA) or prior aneuploidy). Methods: Retrospective cohort of all patients undergoing CVS at Oregon Health & Science University from January 2006 to June 2010. Patients were separated based on CVS indication: (1) positive ultrasound (U/S) or serum screening; or (2) AMA or prior aneuploidy with normal or no screening. Prevalence of abnormal karyotype results were compared between groups. Results: Fetal karyotyping was successful in 500 of 506 CVS procedures performed. 203 CVS were performed for positive screening with 69 abnormal karyotypes (34.0{\%}). 264 CVS were performed for historical indications with 11 abnormal karyotypes (4.2{\%}). This difference was statistically significant (χ2 71.9, p <0.001; OR 11.8 [95{\%} CI 5.8, 24.6]). There were two age-related aneuplodies in AMA women without positive screening. 42 out of 44 AMA women diagnosed with aneuploidy (95.5{\%}) had abnormal U/S and/or serum screening (35 U/S, 4 serum, 3 U/S and serum). Conclusions: Combined ultrasound and serum screening should be recommended to all women, including AMA women, prior to undergoing invasive testing to improve risk-based counseling and minimize morbidity.",
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