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BMC Pregnancy and Childbirth
Published in: BMC Pregnancy and Childbirth 1/2015

Open Access 01-12-2015 | Research article

Prenatal screening of cytogenetic anomalies – a Western Indian experience

Authors: Frenny Sheth, Mizanur Rahman, Thomas Liehr, Manisha Desai, Bhumika Patel, Chirag Modi, Sunil Trivedi, Jayesh Sheth

Published in: BMC Pregnancy and Childbirth | Issue 1/2015

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Abstract

Background

Children born with congenital anomalies present a very high rate of perinatal death and neonatal mortality. Cytogenetic analysis is a convincing investigation along with clinical suspicion and biochemical screening tests. The current study was designed to characterize the prevalence and types of chromosomal abnormalities in high risk prenatal samples using different cytogenetic techniques.

Methods

This study was conducted on a total of 1,728 prenatal samples (1,324 amniotic fluids, 366 chorionic villi and 38 cord blood samples) from 1994 to 2014 at Institute of Human Genetics, Ahmedabad, India. Conventional karyotyping was conducted with GTG-banding. Molecular approaches were used (fluorescence in situ hybridization = FISH and/ or array-comparative genomic hybridization = aCGH) when indicated to detect karyotypic abnormalities.

Results

Abnormal karyotypes were detected in 125/1,728 (7.2%) cases. Trisomy 21 was the most common abnormality detected in 46 (2.7%) followed by trisomy 18 in 11 (0.6%) and trisomy 13 in 2 (0.1%) samples. Besides, structural abnormalities such as reciprocal and Robertsonian translocation were detected in 20 [1.2%] cases. Turner syndrome was diagnosed in seven (0.4%) cases; in six (0.34%) cases there was an inversion in the Y-chromosome. Heteromorphic variants were diagnosed in 22 (1.3%) cases. Finally, small supernumerary marker chromosomes (sSMC) were found in six (0.34%) cases.

Conclusion

Conventional GTG-banding along with molecular cytogenetic techniques is useful in detecting genomic alterations and rearrangements. Comprehensive characterization of chromosomal rearrangements like sSMC has the potential to save potentially healthy fetuses from being terminated.
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Metadata
Title
Prenatal screening of cytogenetic anomalies – a Western Indian experience
Authors
Frenny Sheth
Mizanur Rahman
Thomas Liehr
Manisha Desai
Bhumika Patel
Chirag Modi
Sunil Trivedi
Jayesh Sheth
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Pregnancy and Childbirth / Issue 1/2015
Electronic ISSN: 1471-2393
DOI
https://doi.org/10.1186/s12884-015-0519-y

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