Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi

This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from January 2016 to July 2018. All cases undergoing invasive testing by Chorionic vi...

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Veröffentlicht in:	Journal of the Pakistan Medical Association 2020-04, Vol.70 (4), p.724-727
Hauptverfasser:	Karim, Kouser, Dileep, Dhanwanti, Munim, Shama
Format:	Artikel
Sprache:	eng
Schlagworte:	Anopheles Chorionic Villi Sampling Cystic fibrosis Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Diagnosis Female Fetal diseases Fibrosis Genes Genetic aspects Genetic disorders Genetic testing Health aspects Heterozygote Homozygote Humans Industrialized countries Medical schools Methods Morbidity Mortality Muscular atrophy Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Neurons Neurophysiology Pakistan Pregnancy Pregnant women Prenatal Diagnosis Prevalence studies (Epidemiology) Rare Diseases Retrospective Studies Setting (Literature) Spinal Muscular Atrophies of Childhood - diagnosis Spinal Muscular Atrophies of Childhood - genetics Spinal muscular atrophy Tertiary Care Centers Thalassemia
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