Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies

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Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies Publisher

Vaseghi P^{1, 2} ; Habibi L³ ; Neidich JA^{4, 5} ; Cao Y⁴ ; Fattahi N³ ; Rashidinezhad R³ ; Salehnezhad T³ ; Dalili H^{6, 7} ; Rahimi Sharbaf F⁸ ; Zarkesh MR⁹ ; Malekian M³ ; Mokhberdezfuli M^{3, 10} ; Mehrtash A³ ; Ardeshirdavani A¹¹ Show All Authors

Vaseghi P^{1, 2}
Habibi L³
Neidich JA^{4, 5}
Cao Y⁴
Fattahi N³
Rashidinezhad R³
Salehnezhad T³
Dalili H^{6, 7}
Rahimi Sharbaf F⁸
Zarkesh MR⁹
Malekian M³
Mokhberdezfuli M^{3, 10}
Mehrtash A³
Ardeshirdavani A¹¹
Kariminejad R¹²
Ghorbansabagh V^{7, 13}
Sadeghimoghadam P^{7, 13}
Naddaf A^{7, 13}
Esmaeilnia Shirvany T^{7, 13}
Mosayebi Z^{7, 13}
Sahebdel B⁸
Golshahi F⁸
Shirazi M⁸
Shamel S⁹
Moeini R⁹
Heidari A¹⁴
Daneshmand MA¹⁵
Ghasemi R⁴
Akrami SM¹
Rashidinezhad A^{13, 16}

Source: European Journal of Human Genetics Published:2024

Abstract

Understanding the underlying causes of congenital anomalies (CAs) can be a complex diagnostic journey. We aimed to assess the efficiency of exome sequencing (ES) and chromosomal microarray analysis (CMA) in patients with CAs among a population with a high fraction of consanguineous marriage. Depending on the patient’s symptoms and family history, karyotype/Quantitative Fluorescence- Polymerase Chain Reaction (QF-PCR) (n = 84), CMA (n = 81), ES (n = 79) or combined CMA and ES (n = 24) were performed on 168 probands (66 prenatal and 102 postnatal) with CAs. Twelve (14.28%) probands were diagnosed by karyotype/QF-PCR and seven (8.64%) others were diagnosed by CMA. ES findings were conclusive in 39 (49.36%) families, and 61.90% of them were novel variants. Also, 64.28% of these variants were identified in genes that follow recessive inheritance in CAs. The diagnostic rate (DR) of ES was significantly higher than that of CMA in children from consanguineous families (P = 0·0001). The highest DR by CMA was obtained in the non-consanguineous postnatal subgroup and by ES in the consanguineous prenatal subgroup. In a population that is highly consanguineous, our results suggest that ES may have a higher diagnostic yield than CMA and should be considered as the first-tier test in the evaluation of patients with congenital anomalies. © 2024, The Author(s), under exclusive licence to European Society of Human Genetics.

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Style	Citing Format
MLA	Vaseghi P, et al.. "Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies." European Journal of Human Genetics, vol. , no. , 2024, pp. -.
APA	Vaseghi P, Habibi L, Neidich JA, Cao Y, Fattahi N, Rashidinezhad R, Salehnezhad T, Dalili H, Rahimi Sharbaf F, Zarkesh MR, Malekian M, Mokhberdezfuli M, Mehrtash A, Ardeshirdavani A, Kariminejad R, Ghorbansabagh V, Sadeghimoghadam P, Naddaf A, Esmaeilnia Shirvany T, ... Rashidinezhad A (2024). Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies. European Journal of Human Genetics, (), -.
Chicago	Vaseghi P, Habibi L, Neidich JA, Cao Y, Fattahi N, Rashidinezhad R, Salehnezhad T, et al.. "Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies." European Journal of Human Genetics , no. (2024): -.
Harvard	Vaseghi P et al. (2024) 'Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies', European Journal of Human Genetics, (), pp. -.
Vancouver	Vaseghi P, Habibi L, Neidich JA, Cao Y, Fattahi N, Rashidinezhad R, et al.. Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies. European Journal of Human Genetics. 2024;():-.
BibTex	@article{ author = {Vaseghi P and Habibi L and Neidich JA and Cao Y and Fattahi N and Rashidinezhad R and Salehnezhad T and Dalili H and Rahimi Sharbaf F and Zarkesh MR and Malekian M and Mokhberdezfuli M and Mehrtash A and Ardeshirdavani A and Kariminejad R and Ghorbansabagh V and Sadeghimoghadam P and Naddaf A and Esmaeilnia Shirvany T and Mosayebi Z and Sahebdel B and Golshahi F and Shirazi M and Shamel S and Moeini R and Heidari A and Daneshmand MA and Ghasemi R and Akrami SM and Rashidinezhad A}, title = {Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies}, journal = {European Journal of Human Genetics}, volume = {}, number = {}, pages = {-}, year = {2024} }
RIS	TY - JOUR AU - Vaseghi P AU - Habibi L AU - Neidich JA AU - Cao Y AU - Fattahi N AU - Rashidinezhad R AU - Salehnezhad T AU - Dalili H AU - Rahimi Sharbaf F AU - Zarkesh MR AU - Malekian M AU - Mokhberdezfuli M AU - Mehrtash A AU - Ardeshirdavani A AU - Kariminejad R AU - Ghorbansabagh V AU - Sadeghimoghadam P AU - Naddaf A AU - Esmaeilnia Shirvany T AU - Mosayebi Z AU - Sahebdel B AU - Golshahi F AU - Shirazi M AU - Shamel S AU - Moeini R AU - Heidari A AU - Daneshmand MA AU - Ghasemi R AU - Akrami SM AU - Rashidinezhad A TI - Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies JO - European Journal of Human Genetics VL - IS - SP - EP - PY - 2024 ER -