Format

Send to

Choose Destination
J Obstet Gynaecol Res. 2014 Jan;40(1):139-46. doi: 10.1111/jog.12144. Epub 2013 Sep 5.

Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases.

Author information

1
Department of Medical Genetics, Suleymaniye Maternity Hospital for Research and Training, Istanbul, Turkey.

Abstract

AIM:

The aim of this study was to document the clinical and cytogenetic results of a large series of amniocentesis (AS) cases from Turkey.

MATERIAL AND METHODS:

Second-trimester amniocentesis cases performed in Suleymaniye Maternity Hospital for Research and Training between January 2007 and December 2011 were included.

RESULTS:

During this period, 6124 AS were performed. Indications were increased risk in maternal serum screening (MSS) (56%), advanced maternal age (29%) and pathologic ultrasound finding (11.5%). Most frequent MSS abnormality was abnormal triple test result (58%). Overall culture success rate was 98.8%. Chromosomal abnormality was detected in 215 (3.6%) of the 6052 cytogenetic results (74.9% numerical, 25.1% structural). Most frequent numerical chromosomal abnormality was trisomy 21 (61.9%). Clinically insignificant polymorphisms were the most frequent structural changes (n = 571). Most frequent polymorphism was increase in heterochromatin region in the 1st chromosome (n = 158). Advanced maternal age had a positive predictive value of 5.2%. Among the MSS tests, the combined test had the highest positive predictive value (5.2%).

CONCLUSIONS:

In our study, abnormal MSS (and among these, abnormal triple test result) was the most frequent indication for amniocentesis. Our overall culture success rate was 98.8%. Frequency of major chromosomal abnormality was 3.2% and trisomy 21 was the most frequent abnormality.

KEYWORDS:

Down syndrome; amniocentesis; chromosomal abnormality; prenatal diagnosis

PMID:
24033845
DOI:
10.1111/jog.12144
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center