| Title |
Prenatal screening of cytogenetic anomalies – a Western Indian experience
|
|---|---|
| Published in |
BMC Pregnancy and Childbirth, April 2015
|
| DOI | 10.1186/s12884-015-0519-y |
| Pubmed ID | |
| Authors |
Frenny Sheth, Mizanur Rahman, Thomas Liehr, Manisha Desai, Bhumika Patel, Chirag Modi, Sunil Trivedi, Jayesh Sheth |
| Abstract |
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. 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. 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. 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. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| India | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 43 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 43 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 7 | 16% |
| Student > Bachelor | 5 | 12% |
| Professor > Associate Professor | 5 | 12% |
| Student > Postgraduate | 4 | 9% |
| Researcher | 4 | 9% |
| Other | 10 | 23% |
| Unknown | 8 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 23% |
| Biochemistry, Genetics and Molecular Biology | 9 | 21% |
| Nursing and Health Professions | 5 | 12% |
| Agricultural and Biological Sciences | 5 | 12% |
| Social Sciences | 1 | 2% |
| Other | 3 | 7% |
| Unknown | 10 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 April 2015.
All research outputs
#15,329,087
of 22,799,071 outputs
Outputs from BMC Pregnancy and Childbirth
#2,993
of 4,187 outputs
Outputs of similar age
#157,556
of 264,665 outputs
Outputs of similar age from BMC Pregnancy and Childbirth
#59
of 77 outputs
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