Volume 6, Issue 3 (2021)
SJMR 2021, 6(3): 135-141 |
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Vand-Rajabpour F, Mousavi F, Kariminejad R, Bagherizadeh I, Bahadory K, Giti S, et al . Evaluation and Report of Array-CGH Utility in prenatal and postnatal diagnosis and abortion products referred to a Diagnostic Laboratory in Tehran. SJMR 2021; 6 (3) : 1
URL: http://saremjrm.com/article-1-229-en.html
URL: http://saremjrm.com/article-1-229-en.html
Fatemeh Vand-Rajabpour1 
, Fahimeh Mousavi1 , Roxana Kariminejad2 , Iman Bagherizadeh3 , Kamran Bahadory3 , Sima Giti3 , Mozhgan Karamniayefar3 , Farkhondeh Behjati * 
4
, Fahimeh Mousavi1 , Roxana Kariminejad2 , Iman Bagherizadeh3 , Kamran Bahadory3 , Sima Giti3 , Mozhgan Karamniayefar3 , Farkhondeh Behjati * 4
1- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran.
2- Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
3- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
4- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran. & Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. , fbehjati@gmail.com
2- Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
3- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
4- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran. & Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. , fbehjati@gmail.com
Abstract: (1529 Views)
Objective: Array comparative genomic hybridization (Array-CGH) has been used in diagnostic laboratories for the evaluation of individuals with intellectual disability/developmental delay, autism spectrum disorders, multiple congenital anomalies/dysmorphic features, prenatal diagnosis, and products of conception. Clinically available whole-genome aCGH can detect unbalanced chromosomal rearrangements/abnormalities with coverage of about one probe per 6 kb to one probe per 70 kb.
Materials and Methods: We report the aCGH results of 142 patients referred to Sarem Cytogenetic laboratory, Sarem Women's Hospital for cytogenetic analysis between 2017 and 2020. They comprised 60 prenatal cases using amniotic fluid, 52 cases of products of conception, and 30 peripheral blood samples for postnatal cases. Chromosome analysis and aCGH were done for most of the referred samples.
Results: Four out of fifty-two aborted fetuses had pathogenic aCGH results including; two male fetuses with gain of whole chromosome 21 (compatible with trisomy 21), one male fetus with a gain of whole chromosome 9 (compatible with trisomy 9), and one female fetus with a pathogenic gain of 78.2 Mb on 13q13.3q34 and loss of 612 Kb on 20p13p13 which overlap with 175 and 7 OMIM genes, respectively. The later aborted fetus's karyotype result is 46,XX ,der(20)t(13;20)(q13;p13) which is originated from the father. Also, five out of sixty prenatal amnion fluid's analysis demonstrated pathogenic chromosomal abnormalities. Ten out of thirty postnatal peripheral blood samples showed abnormal chromosomal aCGH results.
Conclusion: The results of this report emphasize the importance of the combination of classic karyotyping with aCGH in better management of the patients.
Materials and Methods: We report the aCGH results of 142 patients referred to Sarem Cytogenetic laboratory, Sarem Women's Hospital for cytogenetic analysis between 2017 and 2020. They comprised 60 prenatal cases using amniotic fluid, 52 cases of products of conception, and 30 peripheral blood samples for postnatal cases. Chromosome analysis and aCGH were done for most of the referred samples.
Results: Four out of fifty-two aborted fetuses had pathogenic aCGH results including; two male fetuses with gain of whole chromosome 21 (compatible with trisomy 21), one male fetus with a gain of whole chromosome 9 (compatible with trisomy 9), and one female fetus with a pathogenic gain of 78.2 Mb on 13q13.3q34 and loss of 612 Kb on 20p13p13 which overlap with 175 and 7 OMIM genes, respectively. The later aborted fetus's karyotype result is 46,XX ,der(20)t(13;20)(q13;p13) which is originated from the father. Also, five out of sixty prenatal amnion fluid's analysis demonstrated pathogenic chromosomal abnormalities. Ten out of thirty postnatal peripheral blood samples showed abnormal chromosomal aCGH results.
Conclusion: The results of this report emphasize the importance of the combination of classic karyotyping with aCGH in better management of the patients.
Article number: 1
Article Type: Historical Research |
Subject:
Sterility Genetical Disorders
Received: 2022/03/30 | Accepted: 2022/08/3 | Published: 2022/08/3
Received: 2022/03/30 | Accepted: 2022/08/3 | Published: 2022/08/3
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