Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis

HAKAN SAVLI; SEDA EREN KESKİN; NACİ ÇİNE

Makale detayları

Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis

Yazarlar:

HAKAN SAVLI | SEDA EREN KESKİN | NACİ ÇİNE

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1263-1267

Belge Tipi:

Makale

Yayın Tarihi:

12/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752400

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Anahtar kelimeler:

Özet:

 

Background/aim: To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis.  Materials and methods: This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications.  Results: Karyotype analysis showed trisomy 21 in 4 patients, trisomy 18 in 5 patients, monosomy X in 1 patient, and other anomalies in 3 patients. The BAC-based array CGH analysis showed 4 patients with trisomy 21, 4 patients with trisomy 18, and 1 patient with monosomy X as a numerical chromosome anomaly, while partial duplication was observed in chromosome 14 in 1 case as a structural anomaly.  Conclusion: The array CGH is the most effective method available to complement cases where chromosome analysis, a gold standard in prenatal diagnosis, proves to be insufficient. Considering the inherent limitations of both methods, complementary features should be introduced in order to be able to give the most accurate data at the right time.

 

Background/aim: To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis.  Materials and methods: This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications.  Results: Karyotype analysis showed trisomy 21 in 4 patients, trisomy 18 in 5 patients, monosomy X in 1 patient, and other anomalies in 3 patients. The BAC-based array CGH analysis showed 4 patients with trisomy 21, 4 patients with trisomy 18, and 1 patient with monosomy X as a numerical chromosome anomaly, while partial duplication was observed in chromosome 14 in 1 case as a structural anomaly.  Conclusion: The array CGH is the most effective method available to complement cases where chromosome analysis, a gold standard in prenatal diagnosis, proves to be insufficient. Considering the inherent limitations of both methods, complementary features should be introduced in order to be able to give the most accurate data at the right time.

Makale detayları

Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis

Yazarlar:

HAKAN SAVLI | SEDA EREN KESKİN | NACİ ÇİNE

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1263-1267

Belge Tipi:

Makale

Yayın Tarihi:

12/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752400

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Prenatal diagnosis

bacterial artificial chromosome-based array comparative genomic hybridization

karyotyping

Sayı

Makale detayları

Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis

Yazarlar: HAKAN SAVLI | SEDA EREN KESKİN | NACİ ÇİNE

Yayıncı: TUBITAK

Dergi: Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1263-1267

Belge Tipi: Makale

Yayın Tarihi: 12/2015

Belge Dili: Türkçe

Document ID (Org No.): 2000752400

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Prenatal diagnosis

bacterial artificial chromosome-based array comparative genomic hybridization

karyotyping

Sayı

Yazarlar:

HAKAN SAVLI | SEDA EREN KESKİN | NACİ ÇİNE

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1263-1267

Belge Tipi:

Makale

Yayın Tarihi:

12/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752400

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144