Prenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis

Pei, Yan; Lu, Yan; Sun, Lu; Zhi, Wenxue; Zhang, Puqing

doi:10.1097/md.0000000000005326

Cited by 4 publications

(4 citation statements)

References 26 publications

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“…Our group has found that sonographic phenotypes are related to genotypes by using CMA. [ 15 – 19 ] Considering this, series of genetic analyses were performed in order. G-band karyotype analysis and FISH were performed to exclude aneuploidy.…”

Section: Discussionmentioning

confidence: 99%

Uniparental disomy and prenatal phenotype

Liu²,

Song³

et al. 2017

Medicine

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Rationale:Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin.Patient concerns:We report prenatal phenotypes of 2 rare cases of UPD.Diagnoses:The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy–Walker malformation and congenital heart defects. The prenatal phenotype of Case 2 are sonographic markers, including enlarged NT, thickened nuchal fold, ascites, and polyhydramnios without apparent structural malformations.Interventions:Conventional G-band karyotype appears normal in case 1, while it shows normal chromosomes with a small supernumerary marker chromosome (sSMC) in case 2. Genetic etiology was left unknown until single-nucleotide polymorphism-based array (SNP-array) was performed, and segmental paternal UPD 22 was identified in case 1 and segmental paternal UPD 14 was found in case 2.Outcomes:The parents of case 1 chose termination of pregnancy. The neonate of case 2 was born prematurely with a bellshaped small thorax and died within a day.Lessons:UPD cases are rare and the phenotypes are different, which depend on the origin and affected chromosomal part. If a fetus shows multiple anomalies that cannot be attributed to a common aneuploidy or a genetic syndrome, or manifests some features possibly related to an UPD syndrome, such as detection of sSMC, SNP-array should be considered.

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Section: Discussionmentioning

confidence: 99%

Uniparental disomy and prenatal phenotype

Liu²,

Song³

et al. 2017

Medicine

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“…RBFOX1 is located in 16p13.3 near 16p13.2, a genomic region associated with several syndromes whose phenotypes include UDT, including alpha thalassemia/ mental retardation associated with chromosome 16 (ATR-16) (Gibson et al, 2008), 16p13.3 deletion or duplication, (Mattina et al, 2012;Rusconi et al, 2015), and the 16p13.2 deletion syndrome. Deletions within 16p13.3-13.2 or RBFOX1 were reported in three boys with different presentations of syndromic UDT (Ramanathan et al, 2010;Milone et al, 2016;Pei et al, 2016), in one case associated with an anogenital anomaly, and in a case of Müllerian aplasia (Sandbacka et al, 2013). Similarly, RBFOX1 duplication was reported in a female with cloaca and associated renal anomalies (Harrison et al, 2014), supporting a functional role for this gene in urogenital development.…”

Section: Discussionmentioning

confidence: 93%

Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility

et al. 2018

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The Eunice Kennedy Shriver National Institute for Child Health and Human Development (R01HD060769); National Center for Research Resources (P20RR20173), National Institute of General Medical Sciences (P20GM103464), Nemours Biomedical Research, the Testicular Cancer Consortium (U01CA164947), the Intramural Research Program of the NCI, a support services contract HHSN26120130003C with IMS, Inc., the Abramson Cancer Center at Penn, National Cancer Institute (CA114478), the Institute of Cancer Research, UK and the Wellcome Trust Case-Control Consortium (WTCCC) 2. None of the authors reports a conflict of interest.

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“…Prenatal diagnosis by chromosomal microarray in a pregnancy suspected with URSMS detected paternally inherited 111.8Kb deletion at 16p13.3 in the affected fetus (Pei et al, 2016). Similarly, ZNF157, SP8, ACOT9, and TTLL11 are thought to be associated with VATER/ VACTERL following exome sequencing in a cohort of 21 families (Kolvenbach et al, 2021).…”

Section: Discussionmentioning

confidence: 98%

“…The latter deletion included a plausible candidate, hedgehog acyltransferase ( HHAT ); however, Sanger sequencing of independent patients with cloacal defects did not identify any significant variants in this gene. Prenatal diagnosis by chromosomal microarray in a pregnancy suspected with URSMS detected paternally inherited 111.8Kb deletion at 16p13.3 in the affected fetus ( Pei et al, 2016 ). Similarly, ZNF157, SP8, ACOT9 , and TTLL11 are thought to be associated with VATER/VACTERL following exome sequencing in a cohort of 21 families ( Kolvenbach et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

Nayak

Harkness

Shukla

et al. 2022

American J of Med Genetics Pt A

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Urorectal septum malformation sequence (URSMS) is characterized by a spectrum of anomalies of the urogenital system, hindgut and perineum. It is presumed to be a constellation of an embryonic defect. Herein, we analyzed the clinically diverse syndromes associated with URSMS in our perinatal evaluation unit. We reviewed fetuses with URSMS in referrals for perinatal autopsy over a period of 3 years. Chromosomal microarray and genome sequencing were performed whenever feasible. Literature was reviewed for syndromes or malformations with URSMS. We ascertained URSMS in 12 of the 215 (5%) fetuses. Nine fetuses (75%) had complete URSMS and remainder had partial/intermediate URSMS. Eleven fetuses had malformations of other systems that included: cerebral ventriculomegaly; right aortic arch with double outlet right ventricle; microcephaly with fetal akinesia deformation sequence; ventricular septal defect and radial ray anomaly; thoraco-abdominoschisis and limb defects; myelomeningocele; spina bifida and fused iliac bones; omphalocele; occipital encephalocele; lower limb amelia and cleft foot. We report on six fetuses with recurrent and five fetuses with unique malformations/patterns where URSMS is a component.Exome sequencing (one family) and genome sequencing (eight families) were performed and were nondiagnostic. Additionally, we review the literature for genetic basis of this condition. URMS is a clinically heterogeneous condition and is a component of several multiple malformation syndromes. We describe several unique and recurrent malformations associated with URSMS.

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Prenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis

Abstract: Supplemental Digital Content is available in the text

Cited by 4 publications

References 26 publications

Uniparental disomy and prenatal phenotype

Uniparental disomy and prenatal phenotype

Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

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