scholarly journals OC18.02: Exome sequencing during pregnancy for fetuses with unsolved multiple congenital abnormalities: a powerful tool to improve prenatal diagnosis

2021 ◽  
Vol 58 (S1) ◽  
pp. 52-52
Author(s):  
N. Bourgon ◽  
M. Lefebvre ◽  
A. Bruel ◽  
F. Tran Mau Them ◽  
A. Garde ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Congenital Abnormalities ◽  
Multiple Congenital Abnormalities

Prenatal diagnosis of right aberrant subclavian artery with other congenital anomalies at I trimester of gestation

2019 ◽  
Author(s):  
M.V. Medvedev, N.A. Altynnik, A.I. Zamiatina et all
Keyword(s):  
Prenatal Diagnosis ◽  
Subclavian Artery ◽  
Congenital Anomalies ◽  
Congenital Abnormalities ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Aberrant Right Subclavian Artery ◽  
Aberrant Subclavian Artery ◽  
The Right ◽  
Multiple Congenital Abnormalities

Six cases of prenatal ultrasound diagnosis of aberrant right subclavian artery at 12+2–14+2 weeks of gestation are presented. To 5 cases earlier published was added a case of prenatal diagnosis of the right aberrant subclavian artery in fetus with multiple congenital abnormalities at 13+3 weeks of gestation. Opportunities of early prenatal ultrasound diagnosis of the right aberrant subclavian artery on first screening are discussed.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

2020 ◽  
pp. jmedgenet-2020-106867
Author(s):  
Mathilde Lefebvre ◽  
Ange-Line Bruel ◽  
Emilie Tisserant ◽  
Nicolas Bourgon ◽  
Yannis Duffourd ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Congenital Abnormalities ◽  
Diagnostic Yield ◽  
Causal Variant ◽  
Developmental Abnormalities ◽  
Variants Of Unknown Significance ◽  
Unknown Significance ◽  
Bibliographic Search ◽  
The Impact ◽  
Multiple Congenital Abnormalities

PurposeMolecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth individuals showing developmental abnormalities (30%), suggesting that standard analyses, based on the correlation between clinical hallmarks described in postnatal syndromic presentations and genotype, may underestimate the impact of the genetic variants identified in fetal analyses.MethodsWe performed sES in 95 fetuses with MCA. Blind to phenotype, we applied a genotype-first approach consisting of combined analyses based on variants annotation and bioinformatics predictions followed by reverse phenotyping. Initially applied to OMIM-morbid genes, analyses were then extended to all genes. We complemented our approach by using reverse phenotyping, variant segregation analysis, bibliographic search and data sharing in order to establish the clinical significance of the prioritised variants.ResultssES rapidly identified causal variant in 24/95 fetuses (25%), variants of unknown significance in OMIM genes in 8/95 fetuses (8%) and six novel candidate genes in 6/95 fetuses (6%).ConclusionsThis method, based on a genotype-first approach followed by reverse phenotyping, shed light on unexpected fetal phenotype-genotype correlations, emphasising the relevance of prenatal studies to reveal extreme clinical presentations associated with well-known Mendelian disorders.

1088 Prenatal diagnosis of TBC1D32-associated disease by exome sequencing: Further evidence of a new syndrome

2021 ◽  
Vol 224 (2) ◽  
pp. S671
Author(s):  
Sarah C. Harris ◽  
Kelly L. Gilmore ◽  
Erica E. Davis ◽  
Alexander Jorge ◽  
Bruna Freire ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing

scholarly journals Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature

2021 ◽  
Vol 64 (11) ◽  
pp. 104318
Author(s):  
Maria Papamichail ◽  
Emmanouil Manolakos ◽  
Ioannis Papoulidis ◽  
Elisavet Siomou ◽  
Anna Eleftheriades ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Clinical Report ◽  
Review Of Literature

A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings

PEDIATRICS ◽  
1971 ◽  
Vol 47 (3) ◽  
pp. 610-612
Author(s):  
Richard L. Neu ◽  
Tadashi Kajii ◽  
Lytt I. Gardner ◽  
Stephen F. Nagyfy ◽  
Saddie King
Keyword(s):  
Corpus Callosum ◽  
Congenital Anomalies ◽  
Congenital Abnormalities ◽  
Clinical Findings ◽  
Cytogenetic Abnormality ◽  
Multiple Congenital Anomalies ◽  
Multiple Congenital Abnormalities

The clinical findings are described in three siblings with a syndrome of microcephaly and multiple congenital abnormalities. All three infants had congenital anomalies of the limbs, described as flexion deformities. Infant 2 showed atrophic gyri and absence of the corpus callosum, with atrophy of cerebrum, cerebellum, and pons. Infant 2 exhibited unusual canine facies. Chromosomal studies were normal on infant 3 (leucocyte and skin cultures). Leucocyte cultures from the mother and father revealed no cytogenetic abnormality.

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