Prenatal screening of cytogenetic anomalies – a Western Indian experience

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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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Most cited references 21

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The prevalence of congenital anomalies in Europe.

Helen Dolk, Ester Garne, Maria Loane (2009)

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48% of all TOPFA. Congenital heart defects (CHD) were the most common non-chromosomal subgroup, at 6.5 per 1,000 births, followed by limb defects (3.8 per 1,000), anomalies of urinary system (3.1 per 1,000) and nervous system defects (2.3 per 1,000). In 2004, perinatal mortality associated with congenital anomaly was 0.93 per 1,000 births, and TOPFA 4.4 per 1,000 births, with considerable country variation. Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.

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Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.

P A Jacobs, C. Browne, N Gregson … (1992)

Data on structural chromosome abnormalities identified during prenatal diagnosis were used to estimate the number of such abnormalities that would be detectable in an unselected series of newborns using moderate levels of banding (400 to 500 bands). These estimates were compared with the rates detected in nonbanded surveys of newborns. Between 1976 and 1990 prenatal diagnosis using banding techniques was carried out in our laboratory on 14,677 women aged 35 and over. Among these, we detected 112 structural rearrangements, 32 unbalanced and 80 balanced. These figures were adjusted by two methods to give an estimate of the frequency of structural abnormalities in the newborn. Our data suggest that the use of moderate levels of banding increases the frequency of unbalanced structural abnormalities from 0.052 to 0.061% and of balanced structural abnormalities from 0.212 to 0.522%. Thus, the total number of chromosome abnormalities detectable in the newborn is increased from 0.60% in unbanded preparations to 0.92% in banded preparations.

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Genetic disorders in children and young adults: a population study.

A Baird, Chase Anderson, H B Newcombe … (1988)

The data base of an ongoing population-based registry with multiple sources of ascertainment was used to estimate the present population load from genetic disease in more than 1 million consecutive live births. It was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individuals can be expected to have diseases with an important genetic component. This total was composed of single-gene disorders (3.6/1,000), consisting of autosomal dominant (1.4/1,000), autosomal recessive (1.7/1,000), and X-linked recessive disorders (0.5/1,000). Chromosomal anomalies accounted for 1.8/1,000, multifactorial disorders (including those present at birth and those of onset before age 25 years) accounted for 46.4/1,000, and cases of genetic etiology in which the precise mechanism was not identified accounted for 1.2/1,000. Previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, but only those judged to fit into one of the above categories were included in the present study. Data for congenital anomalies are therefore also presented separately, to facilitate comparison with earlier studies. If all congenital anomalies are considered as part of the genetic load, then greater than or equal to 79/1,000 live-born individuals have been identified as having one or other genetic disorder before approximately age 25 years. These new data represent a better estimate of the genetic load in the population than do previous studies.

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Author and article information

Contributors

Frenny Sheth: fshethad1@googlemail.com

Mizanur Rahman: mizan142004@yahoo.com

Thomas Liehr: thomas.liehr@med.uni-jena.de

Manisha Desai: manisharushik@yahoo.co.in

Bhumika Patel: bhumi2311@yahoo.com

Chirag Modi: chiragmdi8@gmail.com

Sunil Trivedi: drsuniltrivedi@hotmail.com

Jayesh Sheth: jshethad1@gmail.com

Journal

Journal ID (nlm-ta): BMC Pregnancy Childbirth

Journal ID (iso-abbrev): BMC Pregnancy Childbirth

Title: BMC Pregnancy and Childbirth

Publisher: BioMed Central (London )

ISSN (Electronic): 1471-2393

Publication date (Electronic): 12 April 2015

Publication date PMC-release: 12 April 2015

Publication date Collection: 2015

Volume: 15

Electronic Location Identifier: 90

Affiliations

[ ]FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Jodhpur Gam Road, 380015 Ahmedabad, India

[ ]Institute of Human Genetics, Jena University Hospital, Kollegiengasse 10, D-07743 Jena, Germany

Article

Publisher ID: 519

DOI: 10.1186/s12884-015-0519-y

PMC ID: 4396805

SO-VID: c98bde89-391f-476f-bf09-c297f36ba61a

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 4 July 2014

Date accepted : 30 March 2015

Custom metadata

ScienceOpen disciplines: Obstetrics & Gynecology

Keywords: karyotyping,gtg-banding,fluorescence in situ hybridization (fish),array-comparative genomic hybridization (acgh),cell free dna in maternal circulation (cfdna),chromosomal abnormalities,prenatal samples

Data availability:

ScienceOpen disciplines: Obstetrics & Gynecology

Keywords: karyotyping, gtg-banding, fluorescence in situ hybridization (fish), array-comparative genomic hybridization (acgh), cell free dna in maternal circulation (cfdna), chromosomal abnormalities, prenatal samples

Prenatal screening of cytogenetic anomalies – a Western Indian experience

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Abstract

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Conclusion

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Most cited references 21

The prevalence of congenital anomalies in Europe.

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.

Genetic disorders in children and young adults: a population study.

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