2021
DOI: 10.21203/rs.3.rs-828519/v1
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

Abstract: Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population. Methods In families with a history of congenital an… Show more

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Cited by 1 publication
(7 citation statements)
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“…Majority of fetuses (87%) had an autosomal recessive disorder, 95% of these harboring a homozygous variant, which is reflective of our endogamous population structure. Similar preponderance of autosomal recessive diseases have been reported in other studies from consanguineous cohorts 7,10 . This is in contrast to reports from Caucasian population where autosomal dominant disorders constitute at least half of the diagnoses 1,3‐5,8,14 .…”
Section: Discussionsupporting
confidence: 88%
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“…Majority of fetuses (87%) had an autosomal recessive disorder, 95% of these harboring a homozygous variant, which is reflective of our endogamous population structure. Similar preponderance of autosomal recessive diseases have been reported in other studies from consanguineous cohorts 7,10 . This is in contrast to reports from Caucasian population where autosomal dominant disorders constitute at least half of the diagnoses 1,3‐5,8,14 .…”
Section: Discussionsupporting
confidence: 88%
“…Al‐Hamed et al. have also reported 40.7% ciliopathies in 59 fetuses with Mendelian diseases from a study sample with 81% consanguinity where recessive conditions predominated 7 . 54% variants were novel in our cohort.…”
Section: Discussionsupporting
confidence: 72%
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