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Empty Renal Fossa
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Bilateral renal agenesis is usually a diagnosis of exclusion, with the presentation being that of severe oligohydramnios or anhydramnios in the second trimester. The renal fossae are hard to image due to the lack of liquor. Additionally, the suprarenal glands occupy the renal fossae when the kidneys are not formed. These can mimic normal renal tissue on scan, thus making the diagnosis complicated. The lack of a normally filled bladder and renal arteries in the setting of anhydramnios would be features in favor of bilateral renal agenesis. The search for additional anomalies can be very challenging primarily due to the lack of liquor. In the majority of cases, the suspicion is usually only confirmed post-mortem, when associated abnormalities are also identified. The presence of cryptophthalmos and syndactyly would suggest the diagnosis of Fraser syndrome. Presence of vertebral, limb, esophageal, or cardiac abnormalities would raise the suspicion of VATER or VACTERL associations.
The eye
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Microphthalmos and anophthalmos constitute an extremely heterogeneous group. Unilateral cases are frequently non-genetic but cannot be securely distinguished from genetic forms. Rubella, toxoplasmosis, maternal thalidomide and other drug exposures are possible causes of bilateral disease. Mental retardation is frequently associated, and microphthalmos is a feature of several chromosomal defects as well as Mendelian syndromes. The X-linked Lenz syndrome of microphthalmos with cataract, mental retardation and digital and genitourinary abnormalities must be considered. Microphthalmos with coloboma is usually autosomal dominant (in the absence of known external causes) and is heterogeneous. Complete bilateral anophthalmia can be difficult to distinguish from extreme microphthalmos and may result from environmental factors. Cryptophthalmos, with absent palpebral fissures, may be part of the previously mentioned disorders, or may occur with relatively normal eye development, usually following autosomal recessive inheritance. Some cases are part of the more general Fraser syndrome (autosomal recessive), where renal agenesis and laryngeal atresia may be major features, and where a specific developmental gene defect is known.
Fetal counseling for surgical malformations
Published in Prem Puri, Newborn Surgery, 2017
Congenital high airway obstruction syndrome (CHAOS) is usually caused by laryngeal atresia or tracheal obstruction and can be detected from about 17 weeks. Due to lack of communication, fluid is accumulated in the tracheobronchial tree. Sonographic appearance of CHAOS has distinctive features of bilaterally massively enlarged, uniformly hyperechogenic lungs, with eversion of the diaphragm and compression of the heart. It results in a picture suggestive of a small heart surrounded by massive lungs. In some, the absence of tracheal flow in color Doppler can be visualized during fetal breathing movements. CHAOS is usually isolated but may be a feature of Fraser syndrome. The antenatal history of CHAOS depends on the severity of obstruction; however, in the vast majority of cases, this condition is fatal.
Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios
Published in Annals of Medicine, 2023
Xiaomei Shi, Hongke Ding, Chen Li, Ling Liu, LiHua Yu, Juan Zhu, Jing Wu
We also identified a homozygous point variation c.199-10T > G in the SLC25A20 gene in case 4. Mutation of SLC25A20 is causative for Carnitine-acylcarnitine translocase deficiency (CACTD). Case 5 presented with oligohydramnios, hyperechogenic kidneys and enlarged kidneys. WES revealed a compound heterozygous mutation in PKHD1, a gene associated with PKD4. Case 6 had bilateral renal dysplasia and hypoplastic nasal bone in addition to oligohydramnios. WES revealed a compound heterozygous mutation in FRAS1. Mutations in the FRAS1 gene may cause Fraser syndrome. Case 7 carried a heterozygous mutation of (c.1406_1413dup8) in the HNF1B gene. Mutations in this gene cause renal cysts and diabetes syndrome. Ultrasound of this foetus showed severe oligohydramnios, bilateral renal dysplasia and an enlarged heart.
WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma.
Published in Fetal and Pediatric Pathology, 2023
Randall Craver, Matthew Stark, Stephanie Moss, Sarah Long, Pinki Prasad, Christopher C. Roth
Peripheral blood was utilized for sequencing and deletion/duplication analysis for 158 genes involved in disorders of sexual development. Detected was a 15.2 deletion involving 11p13.3/WT1 and 11p14.1/FSHB (Follitropin subunit beta). No variants were detected in the remaining FSHB or WT1 genes. One copy of a non-variant SRY gene was detected. Four variants of unknown significance were detected. These included, along with the disorders associated with known pathogenic variants:FREM2 (FRAS1-related extracellular matrix protein 2), c.8918A > G, 13q13.3 - Fraser syndrome, cryptophthalmos- heterozygous.AMH (anti-Mullerian hormone) c864C > G, 19p13.3- persistent Mullerian ducts –heterozygous.CYP11A1 (Cholesterol side-chain cleavage enzyme) c.940 G > A, 15q24.1, - 46XY sex reversal, heterozygousBMP15 (bone morphogenic protein) c811 G > T, Xp11.22, -ovarian dysgenesis, hemizygous,
Next-generation sequencing and the impact on prenatal diagnosis
Published in Expert Review of Molecular Diagnostics, 2018
Rhiannon Mellis, Natalie Chandler, Lyn S Chitty
Technical challenges for fetal exome sequencing include incomplete coverage of some genes, which can lead to missed variants and significantly impair definitive diagnosis [50]. For example, Drury et al. [40] reported two cases in which fetal exome sequencing detected a single copy of a likely pathogenic variant in a plausibly causative autosomal recessive gene but incomplete coverage of the gene rendered it impossible to detect or rule out a second variant. The first was a fetus with sonographic findings of echogenic lungs and a dilated trachea where exome sequencing revealed a heterozygous missense variant in FREM2, a gene in which biallelic mutations cause Fraser syndrome. Fraser syndrome is associated with congenital high airway obstruction syndrome (CHAOS) [51], which would have been consistent with the sonographic findings in the fetus. Postmortem examination following neonatal death confirmed a diagnosis of CHAOS. A second case in the same series was a fetus with multiple sonographic abnormalities, including congenital diaphragmatic hernia, bilateral severe ventriculomegaly, atrioventricular septal defect, and polydactyly. Here, fetal exome sequencing identified a novel splice site variant in DYNC2H1, a gene in which previously reported biallelic variants have been associated with ciliopathy phenotypes [52]. Again, this was a plausible causative candidate for the fetal phenotype and post-mortem findings were suggestive of a ciliopathy but it was not possible to identify a second variant in DYNC2H1 despite re-sequencing to attempt to improve coverage of the gene.