■ ORIGINAL ARTICLE ■ Chromosome Aberrations in the Second Trimester

DETECTION OF CHROMOSOME ABERRATIONS IN THE

SECOND TRIMESTER USING GENETIC AMNIOCENTESIS:
EXPERIENCE DURING 1995–2004

Jenn-Jhy Tseng
1,2,4 *, Min-Min Chou1,3, Feng-Chu Lo1, Hui-Yu Lai1, Min-Hui Chen1, Esther Shih-Chu Ho1
1
Department of Obstetrics and Gynecology, Taichung Veterans General Hospital, 2Hung-Kuang University,
3
Chun-Shan Medical University, Taichung, and 4Institute of Clinical Medicine,
National Yang-Ming University, Taipei, Taiwan.

SUMMARY
Objective: To retrospectively investigate the 10-year experience of prenatal diagnosis of fetal chromosome
aberrations by second-trimester amniocentesis.
Methods: Data were collected at Taichung Veterans General Hospital between 1995 and 2004 from cytogenetic
analyses of cultured amniocytes from second-trimester amniocentesis. The main indications for amniocentesis
included advanced maternal age, abnormal maternal serum screening results, and abnormal ultrasound findings.
Chromosome aberrations included autosomal aneuploidies, sex chromosome aneuploidies, polyploidies, and
rearrangements. Variant chromosomes were considered to be normal and excluded.
Results: A total of 7,028 amniocenteses were performed and analyzed for chromosome aberrations. Among
these, 4,026 (57.29%) were for advanced maternal age, 1,500 (21.34%) for abnormal maternal serum screening
results, 553 (7.87%) for abnormal ultrasound findings, and 949 (13.50%) for other reasons. The highest detection
rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal ultrasound findings
(8.86%), followed by other reasons (2.74%), abnormal maternal serum screening results (2.60%), and advanced
maternal age (2.31%). Chromosome aberrations were detected in 207 cases (2.90%), including fetuses of 93
older mothers, 39 mothers with abnormal serum screening results, 49 mothers with abnormal ultrasound
findings, and 26 mothers with other reasons for amniocentesis. Of fetuses with chromosome aberrations, 144
(69.56%) had trisomy 13, trisomy 18, trisomy 21, or sex chromosome disorder. The other 63 cases (30.44%)
included balanced translocation, unbalanced abnormality, inversion, and marker chromosome.
Conclusion: For daily practice, our data could offer a database for proper genetic counseling, such as termination
issues and future pregnancies. [Taiwanese J Obstet Gynecol 2006;45(1):39–41]

Key Words: amniocentesis, chromosome aberration

Introduction diagnose the fetal karyotype has provided medical

Genetic amniocentesis remains the most common
invasive diagnostic procedure for the detection of
chromosomal aberrations in fetuses. The means to
*Correspondence to: Dr. Jenn-Jhy Tseng, Department of Obstetrics
and Gynecology, Taichung Veterans General Hospital, 160,
Section 3, Taichung-Kang Road, Taichung 40705, Taiwan.
E-mail: t1018@vghtc.gov.tw
Received: August 10, 2005
Revised: August 16, 2005
Accepted: August 19, 2005
cytogenetics with one of its major areas of application.
The discovery of an abnormality allows the option of
termination or, later in the pregnancy, more suitable
obstetric management [1,2]. Here, we report the 10-
year experience (1995–2004) of prenatal detection of
fetal chromosome aberrations by amniocentesis at
Taichung Veterans General Hospital.
Methods
Data were collected at Taichung Veterans General

Taiwanese J Obstet Gynecol • March 2006 • Vol 45 • No 1 39

J.J. Tseng, et al
Hospital between 1995 and 2004 for cytogenetic
analyses of cultured amniocytes from second-trimester
amniocentesis. The main indications for amniocentesis
in this study included advanced maternal age, abnormal
maternal serum screening results, abnormal ultrasound
findings, and several other reasons (e.g. a previous child
with congenital anomaly, a family history of chromosome
aberration, an abnormally high maternal serum level of
_-fetoprotein, and prenatal biochemical or molecular
referrals). Advanced maternal age was defined as more
than 35 years at delivery [3]. Abnormal maternal serum
screening tests included pregnant women with high-
risk screening results for trisomies 18 and 21. Abnormal
ultrasound findings included fetal anomalies and the
presence of soft markers indicating the possibility of
chromosome aberrations (e.g. increased nuchal fold
thickness and bilateral, large choroid plexus cysts).
A family history of chromosome aberrations included
aneuploidy, translocation, inversion, and marker chro-
mosome. We excluded all elective purposes, including
maternal anxiety and maternal serum screening re-
sults close to a Down’s syndrome risk cut-off level of
1/270 (but still low risk). Chromosome aberrations
(numerical and structural) included full aneuploidy,
polyploidy, mosaicism, deletion, duplication, insertion,
inversion, balanced translocation, unbalanced trans-
location, ring chromosome, and marker chromosome.
Variant chromosomes, such as inversion of chromosome
9 and Y, double satellites or marked satellite on acro-
centric chromosomes, and hyperchromatin on chromo-
somes 1, 9, and 16, were categorized as normal.
Results
From 1995 to 2004, 7,028 amniocenteses were
performed and analyzed for chromosome aberrations
at Taichung Veterans General Hospital (Table). Among
these, 4,026 (57.29%) were for advanced maternal
age, 1,500 (21.34%) for abnormal maternal serum
screening results, 553 (7.87%) for abnormal ultra-
sound findings, and 949 (13.50%) for other reasons.
The highest rate of detection of chromosome aberra-
tions was in women undergoing amniocentesis for
abnormal ultrasound findings (8.86%), followed by
other reasons (2.74%), abnormal maternal serum
screening results (2.60%), and advanced maternal age
(2.31%).
Chromosome aberrations were detected in 207
cases (2.90%), including 93 with advanced maternal
age, 39 with abnormal maternal serum screening re-
sults, 49 with abnormal ultrasound findings, and 26
40
with other reasons. Of cases with chromosome aber-
rations, 144 (69.56%) had trisomy 13, trisomy 18,
trisomy 21, or sex chromosome disorder. There were
nine trisomy 13, 24 trisomy 18, 57 trisomy 21 (55 non-
mosaic and 2 mosaic), and 54 sex chromosome
aberrations (39 non-mosaic and 15 mosaic). The other
63 cases (30.44%) included 29 with balanced trans-
location (23 parentally inherited, 4 de novo, and 2
mosaic), 19 with unbalanced abnormality (4 parental-
ly inherited, 4 de novo, and 11 mosaic), 10 with inver-
sion (9 parentally inherited and 1 de novo), and five with
marker chromosome (4 de novo and 1 mosaic).
Discussion
This study was started after 1995, when maternal
serum screening double-marker testing became available
at Taichung Veterans General Hospital. Most women
underwent genetic amniocentesis for advanced maternal
age (57.29%). The detection rate for chromosome dis-
orders was 2.90%, compatible with data from multiple
centers [4,5]. Trisomy 21 was the most common disorder
(27.54%), followed by sex chromosome aberration
(26.09%). The detection rate among women under-
going amniocentesis for abnormal ultrasound findings
(8.86%) was around fourfold higher than that in other
women (2–3%).
Based on this study of our 10-year experience of
prenatal diagnosis of chromosome disorders, we did
not find an apparent change compared with previous
reports [4]. However, our data has allowed for the
establishment of another database for genetic coun-
seling, and the discovery of an abnormality allows the
option of termination or, later in the pregnancy, more
suitable obstetric management.
Generally, people who decide to have prenatal diag-
nosis are concerned about specific chromosomal con-
ditions, the most common of which is Down’s syndrome.
However, an unexpected abnormality is more likely
than the “expected” one. In view of the effective use of
amniocentesis as a diagnostic procedure for chromo-
some aberration, efforts should be made using more
efficient prenatal programs to reduce the number of
unnecessary amniocenteses.
Acknowledgments
This work was supported by a research grant from
the Taichung Veterans General Hospital (TCVGH-
946404C).
Taiwanese J Obstet Gynecol • March 2006 • Vol 45 • No 1
 Chromosome Aberrations in the Second Trimester

Table. Analysis of all second-trimester amniocentesis cases with chromosome aberrations between 1995 and 2004
at Taichung Veterans General Hospital
Reason for amniocentesis
Total cases
Advanced Abnormal maternal Abnormal Other detected
maternal age serum screening ultrasound reasons
Trisomy 13
Non-mosaic 4 0 4 1 9 (4.35%)
Mosaic 0 0 0 0
Trisomy 18
Non-mosaic 8 1 130 2 24 (11.59%)
Mosaic 0 0 0 0
Trisomy 21
Non-mosaic 300 130 9 3 57 (27.54%)
Mosaic 1 0 0 1
Sex chromosome aberration
Non-mosaic 120 4 15 8 54 (26.09%)
Mosaic 9 3 1 2
Others
Balanced translocation
Parental 120 5 1 5 29 (14.01%)
De novo 1 0 1 2
Mosaic 0 1 1 0
Unbalanced abnormality*
Parental 1 2 0 1 19 (9.18%)0
De novo 0 3 1 0
Mosaic 7 2 2 0
Inversion
Parental 3 5 1 0 10 (4.83%)0
De novo 1 0 0 0
Mosaic 0 0 0 0
Marker
Parental 0 0 0 0 05 (2.42%)0
De novo 3 0 0 1
Mosaic 1 0 0 0
Total cases detected 093 (44.92%) 039 (18.84%) 049 (23.67%) 026 (12.67%) 207 (100%)00
Total cases studied 4,026 (57.29%)00 1,500 (21.34%)00 553 (7.87%)0 949 (13.50%) 7,028 (100%)0000
Rate of detection† 2.31% 2.60% 8.86% 2.74% 2.90%
*Unbalanced abnormality = chromosome aberrations including autosomal trisomies other than 13,18, and 21, polyploidy, ring chromosome, insertion,
deletion, duplication, and unbalanced translocation; †rate of detection = total cases detected/total cases studied.

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