Open AccessPrenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience
Author(s) -
Meena Lall,
Shruti Agarwal,
Preeti Paliwal,
Pushpa Saviour,
Anju Joshi,
Arti Joshi,
Surbhi Mahajan,
Sunita BijarniaMahay,
Ratna Dua Puri,
Ishwar C. Verma
Publication year - 2021
Publication title -
journal of obstetrics and gynecology of india
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.313
H-Index - 17
eISSN - 0971-9202
pISSN - 0975-6434
DOI - 10.1007/s13224-020-01413-6
Subject(s) - prenatal diagnosis , genetic counseling , karyotype , chorionic villi , medicine , advanced maternal age , amniotic fluid , fetus , obstetrics , genetic testing , chromosome , pregnancy , genetics , gynecology , biology , gene
Karyotyping has been the gold standard for prenatal chromosome analysis. The resolution should be higher by chromosome microarray analysis (CMA). The challenge lies in recognizing benign and pathogenic or clinically significant copy number variations (pCNV) and variations of unknown significance (VOUS). The aim was to evaluate the diagnostic yield and clinical utility of CMA, to stratify the CMA results in various prenatal referral groups and to accumulate Indian data of pCNVs and VOUS for further interpretation to assist defined genetic counseling.