Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses

Mara Rosner, Eugene Pergament, Stephanie Andriole, Juliana Gebb, Pe'er Dar, Mark I. Evans

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Objective: To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. Methods: A retrospective review of 470 patients referred to our unit for FR from January 2007-March 2011. Prenatal diagnosis was offered to all. FR was performed after next-day FISH results. Abnormalities were categorized by ultrasound, FISH, and/or karyotype. Sensitivity, specificity, positive predictive value, and negative predictive value of pre-FR FISH were calculated. Results: Four hundred thirty-two of 470 patients seen were first trimester. 24/432 (5.2%) were excluded for abnormal ultrasound findings, including nuchal translucency (NT)>3.0mm, and 360 (88.2%) underwent CVS before FR. Ten fetuses were then excluded for euploid sex mosaicism. 10/350 (2.9%) patients with normal ultrasounds had abnormal FISH confirmed by karyotype. 9/350 (2.6%) patients with normal FISH had an abnormal karyotype necessitating follow up amniocentesis in which the clinically relevant discordancy was confirmed in one case (1/350, 0.3%). Pre-FR FISH had a 90% sensitivity, 99.4% specificity, 83.3% positive predictive value, and 99.7% negative predictive value. Conclusions: 3.1% of patients with normal-appearing fetuses prior to first trimester FR had a fetus with an abnormal karyotype of which FISH detected 90%. CVS with FISH prior to FR adds significant information that can guide reduction decisions.

Original languageEnglish (US)
Pages (from-to)940-944
Number of pages5
JournalPrenatal Diagnosis
Volume33
Issue number10
DOIs
StatePublished - Oct 2013

Fingerprint

Multifetal Pregnancy Reduction
Chorionic Villi Sampling
Fluorescence In Situ Hybridization
Fetus
First Pregnancy Trimester
Abnormal Karyotype
Karyotype
Nuchal Translucency Measurement
Sensitivity and Specificity
Mosaicism
Amniocentesis
Aneuploidy
Prenatal Diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses. / Rosner, Mara; Pergament, Eugene; Andriole, Stephanie; Gebb, Juliana; Dar, Pe'er; Evans, Mark I.

In: Prenatal Diagnosis, Vol. 33, No. 10, 10.2013, p. 940-944.

Research output: Contribution to journalArticle

Rosner, Mara ; Pergament, Eugene ; Andriole, Stephanie ; Gebb, Juliana ; Dar, Pe'er ; Evans, Mark I. / Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses. In: Prenatal Diagnosis. 2013 ; Vol. 33, No. 10. pp. 940-944.
@article{927789900f2b42758cd3f61a32c7f2c3,
title = "Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses",
abstract = "Objective: To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. Methods: A retrospective review of 470 patients referred to our unit for FR from January 2007-March 2011. Prenatal diagnosis was offered to all. FR was performed after next-day FISH results. Abnormalities were categorized by ultrasound, FISH, and/or karyotype. Sensitivity, specificity, positive predictive value, and negative predictive value of pre-FR FISH were calculated. Results: Four hundred thirty-two of 470 patients seen were first trimester. 24/432 (5.2{\%}) were excluded for abnormal ultrasound findings, including nuchal translucency (NT)>3.0mm, and 360 (88.2{\%}) underwent CVS before FR. Ten fetuses were then excluded for euploid sex mosaicism. 10/350 (2.9{\%}) patients with normal ultrasounds had abnormal FISH confirmed by karyotype. 9/350 (2.6{\%}) patients with normal FISH had an abnormal karyotype necessitating follow up amniocentesis in which the clinically relevant discordancy was confirmed in one case (1/350, 0.3{\%}). Pre-FR FISH had a 90{\%} sensitivity, 99.4{\%} specificity, 83.3{\%} positive predictive value, and 99.7{\%} negative predictive value. Conclusions: 3.1{\%} of patients with normal-appearing fetuses prior to first trimester FR had a fetus with an abnormal karyotype of which FISH detected 90{\%}. CVS with FISH prior to FR adds significant information that can guide reduction decisions.",
author = "Mara Rosner and Eugene Pergament and Stephanie Andriole and Juliana Gebb and Pe'er Dar and Evans, {Mark I.}",
year = "2013",
month = "10",
doi = "10.1002/pd.4213",
language = "English (US)",
volume = "33",
pages = "940--944",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "10",

}

TY - JOUR

T1 - Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses

AU - Rosner, Mara

AU - Pergament, Eugene

AU - Andriole, Stephanie

AU - Gebb, Juliana

AU - Dar, Pe'er

AU - Evans, Mark I.

PY - 2013/10

Y1 - 2013/10

N2 - Objective: To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. Methods: A retrospective review of 470 patients referred to our unit for FR from January 2007-March 2011. Prenatal diagnosis was offered to all. FR was performed after next-day FISH results. Abnormalities were categorized by ultrasound, FISH, and/or karyotype. Sensitivity, specificity, positive predictive value, and negative predictive value of pre-FR FISH were calculated. Results: Four hundred thirty-two of 470 patients seen were first trimester. 24/432 (5.2%) were excluded for abnormal ultrasound findings, including nuchal translucency (NT)>3.0mm, and 360 (88.2%) underwent CVS before FR. Ten fetuses were then excluded for euploid sex mosaicism. 10/350 (2.9%) patients with normal ultrasounds had abnormal FISH confirmed by karyotype. 9/350 (2.6%) patients with normal FISH had an abnormal karyotype necessitating follow up amniocentesis in which the clinically relevant discordancy was confirmed in one case (1/350, 0.3%). Pre-FR FISH had a 90% sensitivity, 99.4% specificity, 83.3% positive predictive value, and 99.7% negative predictive value. Conclusions: 3.1% of patients with normal-appearing fetuses prior to first trimester FR had a fetus with an abnormal karyotype of which FISH detected 90%. CVS with FISH prior to FR adds significant information that can guide reduction decisions.

AB - Objective: To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. Methods: A retrospective review of 470 patients referred to our unit for FR from January 2007-March 2011. Prenatal diagnosis was offered to all. FR was performed after next-day FISH results. Abnormalities were categorized by ultrasound, FISH, and/or karyotype. Sensitivity, specificity, positive predictive value, and negative predictive value of pre-FR FISH were calculated. Results: Four hundred thirty-two of 470 patients seen were first trimester. 24/432 (5.2%) were excluded for abnormal ultrasound findings, including nuchal translucency (NT)>3.0mm, and 360 (88.2%) underwent CVS before FR. Ten fetuses were then excluded for euploid sex mosaicism. 10/350 (2.9%) patients with normal ultrasounds had abnormal FISH confirmed by karyotype. 9/350 (2.6%) patients with normal FISH had an abnormal karyotype necessitating follow up amniocentesis in which the clinically relevant discordancy was confirmed in one case (1/350, 0.3%). Pre-FR FISH had a 90% sensitivity, 99.4% specificity, 83.3% positive predictive value, and 99.7% negative predictive value. Conclusions: 3.1% of patients with normal-appearing fetuses prior to first trimester FR had a fetus with an abnormal karyotype of which FISH detected 90%. CVS with FISH prior to FR adds significant information that can guide reduction decisions.

UR - http://www.scopus.com/inward/record.url?scp=84884980160&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84884980160&partnerID=8YFLogxK

U2 - 10.1002/pd.4213

DO - 10.1002/pd.4213

M3 - Article

C2 - 23939830

AN - SCOPUS:84884980160

VL - 33

SP - 940

EP - 944

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 10

ER -