The new frontier: a case for whole exome sequencing with multiple fetal anomalies
Objectives: Standard genetic testing can fail to identify an underlying genetic etiology in pregnancies affected by multiple fetal abnormalities. Recently, whole exome sequencing (WES) studies have shown promise in recognizing genetic diagnoses where standard genetic testing does not yield answers. Case presentation: A 35-year-old G1P0 healthy female found at anatomy scan to have multiple fetal anomalies, including severe bilateral ventriculomegaly, renal pyelectasis, and short long bones. Karyotype and microarray were normal. Whole exome sequencing showed the fetus was compound heterozygous for likely pathogenic variants in the ROBO1 gene. Conclusions: In the presence of multiple fetal anomalies with normal karyotype and microarray, whole exome sequencing should be considered to not only provide answers for the affected parents, but also aid in future pregnancy planning.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
The new frontier: a case for whole exome sequencing with multiple fetal anomalies ; volume:12 ; number:1 ; year:2023 ; extent:05
Case reports in perinatal medicine ; 12, Heft 1 (2023) (gesamt 05)
- Creator
-
Mei, Jenny Y.
Dayani, Lila
Platt, Lawrence D.
- DOI
-
10.1515/crpm-2022-0032
- URN
-
urn:nbn:de:101:1-2023050414102958811633
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:52 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Mei, Jenny Y.
- Dayani, Lila
- Platt, Lawrence D.
Other Objects (12)
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
Ultrasound diagnosis of fetal anomalies
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Whole exome sequencing in the rat
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing
Fetal craniofacial anomalies in amniotic band sequence
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
Ultrasound diagnosis of fetal anomalies
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Whole exome sequencing in the rat
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing
Fetal craniofacial anomalies in amniotic band sequence
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
Ultrasound diagnosis of fetal anomalies
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Whole exome sequencing in the rat
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing