Early prenatal detection of Bardet‐Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing

Li, Qiaoyi; Huang, Lv‐Ying; Li, D.‐Z.

doi:10.1111/cga.12306

Cited by 4 publications

(11 citation statements)

References 8 publications

(9 reference statements)

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“…The antenatal presentation of BBS is far less known, because of the postnatal late onset of most symptoms. Until now, only 18 fetuses with confirmed disease‐causing variations in BBS genes have been reported . Most of the clinical signs found in the fetuses and neonates (polydactyly, renal cysts, hepatic fibrosis without bile duct proliferation and situs inversus ) overlap with other ciliopathies.…”

Section: Introductionmentioning

confidence: 81%

“…Therefore, the detection of other prenatally observable BBS signs is crucial, namely polydactyly or heart defect when present. The severity of the renal dysfunction or other anomalies as described in this study (lateralization anomalies, urinary and cardiac malformations...), familial history and consanguinity are important elements of orientation. In case of termination of pregnancy, a complete autopsy examination must be proposed to clearly assess the phenotype of the fetus.…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly in our cohort 5 pedigrees had more than one fetus and data was available for 2 fetuses in 4 of these families (F135, F760, F834 and TAF10). Clinical details show important variations in the fetal phenotypes within the same family, even if the fetuses were analyzed at almost the same terms (Table ), contrasting with a previous report on US phenotype of 2 BBS siblings . This variability can concern canonical signs of BBS (presence/absence of renal involvement, F760 and F834) or severity of the phenotype (F135, TAF10).…”

Section: Discussionmentioning

confidence: 99%

“…Clinical details show important variations in the fetal phenotypes within the same family, even if the fetuses were analyzed at almost the same terms (Table 4), contrasting with a previous report on US phenotype of 2 BBS siblings. 31 This variability can concern canonical signs of BBS (presence/absence of renal involvement, F760 and F834) or severity of the phenotype (F135, TAF10). Except for family TAF10, each second sibling did not undergo complete autopsic procedures and this may partly explain such phenotype discrepancies.…”

Section: Phenotype-genotype Correlationsmentioning

confidence: 99%

“…Until now, only 18 fetuses with confirmed disease-causing variations in BBS genes have been reported. 20,[25][26][27][28][29][30][31] Most of the clinical signs found in the fetuses and neonates (polydactyly, renal cysts, hepatic fibrosis without bile duct proliferation and situs inversus) overlap with other ciliopathies. This was confirmed by the report of 10 fetuses referred for "Meckel-like cystic kidneys" mutated in 4 BBS genes (BBS2, BBS4 BBS6 and BBS10).…”

Section: Introductionmentioning

confidence: 99%

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Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

et al. 2019

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Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Molecular diagnosis during pregnancies remains a timely challenge for this heterogeneous disease (22 known genes). We report here the largest cohort of BBS fetuses to better characterize the antenatal presentation. Prenatal ultrasound (US) and/or autopsy data from 74 fetuses with putative BBS diagnosis were collected out of which molecular diagnosis was established in 51 cases, mainly in BBS genes (45 cases) following the classical gene distribution, but also in other ciliopathy genes (6 cases). Based on this, an updated diagnostic decision tree is proposed. No genotype/phenotype correlation could be established but postaxial polydactyly (82%) and renal cysts (78%) were the most prevalent symptoms. However, autopsy revealed polydactyly that was missed by prenatal US in 55% of the cases. Polydactyly must be carefully looked for in pregnancies with apparently isolated renal anomalies in fetuses. K E Y W O R D Santenatal presentation, Bardet-Biedl syndrome, BBS, diagnostic strategy

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Section: Introductionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Phenotype-genotype Correlationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

et al. 2019

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Phenotypic and genotypic analysis of 11 fetal cases with Bardet–Biedl syndrome

Yu,

Liu,

Zhen

et al. 2024

Prenatal Diagnosis

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ObjectiveTo present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet–Biedl syndrome (BBS).MethodsThis was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes.ResultsAll cases had unremarkable first‐trimester ultrasound scans without reporting limb malformations. All had second‐trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two‐system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term.ConclusionEnlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.

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Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review

Nowak-Ciołek,

Ciołek,

Tomaszewska

et al. 2024

Front. Endocrinol.

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Bardet-Biedl Syndrome (BBS) is an autosomal recessive non-motile ciliopathy, caused by mutations in more than twenty genes. Their expression leads to the production of BBSome-building proteins or chaperon-like proteins supporting its structure. The prevalence of the disease is estimated at 1: 140,000 – 160,000 of life births. Its main clinical features are retinal dystrophy, polydactyly, obesity, cognitive impairment, hypogonadism, genitourinary malformations, and kidney disease. BBS is characterized by heterogeneous clinical manifestation and the variable onset of signs and symptoms. We present a case series of eight pediatric patients with BBS (6 boys and 2 girls) observed in one clinical center including two pairs of siblings. The patients’ age varies between 2 to 13 years (average age of diagnosis: 22 months). At presentation kidney disorders were observed in seven patients, polydactyly in six patients’ obesity, and psychomotor development delay in two patients. In two patients with kidney disorders, the genetic tests were ordered at the age of 1 and 6 months due to the presence of symptoms suggesting BBS and having an older sibling with the diagnosis of the syndrome. The mutations in the following genes were confirmed: BBS10, MKKS, BBS7/BBS10, BBS7, BBS9. All described patients developed symptoms related to the urinary system and kidney-function impairment. Other most common symptoms are polydactyly and obesity. In one patient the obesity class 3 was diagnosed with multiple metabolic disorders. In six patients the developmental delay was diagnosed. The retinopathy was observed only in one, the oldest patient. Despite having the same mutations (siblings) or having mutations in the same gene, the phenotypes of the patients are different. We aimed to addresses gaps in understanding BBS by comparing our data and existing literature through a narrative review. This research includes longitudinal data and explores genotype-phenotype correlations of children with BBS. BBS exhibits diverse clinical features and genetic mutations, making diagnosis challenging despite defined criteria. Same mutations can result in different phenotypes. Children with constellations of polydactyly and/or kidney disorders and/or early-onset obesity should be managed towards BBS. Early diagnosis is crucial for effective monitoring and intervention to manage the multisystemic dysfunctions associated with BBS.

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Early prenatal detection of Bardet‐Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing

Cited by 4 publications

References 8 publications

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Phenotypic and genotypic analysis of 11 fetal cases with Bardet–Biedl syndrome

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review

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