Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of <scp>DNA</scp> sequencing

Larroca, Santiago García‐Tizón; Atanasova, V.; Clemente, María Orera; Mendez, Anna Aluja; Abad, Virginia Ortega; Fernández-Pacheco, Ricardo Pérez; Luis, J. De Leon; Alderete, Francisco Gámez

doi:10.1002/ccr3.859

Cited by 6 publications

(5 citation statements)

References 13 publications

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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: 99%

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: 99%

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 another rare genetic syndrome that causes various abnormalities. The incidence rate of the disease ranges from~1/125,000 to~1/175,000 births [90].…”

Section: Bardet-biedl Syndromementioning

confidence: 99%

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

Marzouni¹,

Harchegani²,

Layali³

2021

JOMH

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Background and objectives: Recent investigations have reported more than 70 genetic syndromes involved in male infertility; however, the majority of these syndromes are extremely rare. We aimed to report the most common chromosomal abnormalities and associated rare genetic syndromes in the context of human male infertility. Materials and Methods: We performed a review of published articles considering the most common chromosomal aneuploidies and rare genetic syndromes associated with male infertility on PubMed, Web of Science, and Scopus. Results: Chromosomal abnormalities are frequently found in infertile men, with an incidence rate of 2-15%. The chromosomal aberrations include the sex and autosomal chromosome abnormalities, as well as numerical and structural defects in chromosomes. There are various rare genetic syndromes involved in male infertility that are caused by structural and numerical abnormalities in chromosomes. Klinefelter syndrome is the most common type of sex chromosome aneuploidy in infertile males. Besides, Y chromosome microdeletions, particularly in azoospermia factor regions, serve as the second most common genetic cause of impaired spermatogenetic in infertile men. These molecular genetic abnormalities not only can be inherited, but also they may transmit to the next generation through assisted reproductive techniques and result in the birth of boys with higher risk of congenital abnormalities and infertility. Despite the normal secondary male sexual characteristics, some patients are azoospermic or severe oligozoospermic men. Therefore, identiﬁcation of these molecular genetic factors and rare genetic disorders is essential in men with unexplained infertility. Discussion and conclusion: Since most of molecular genetic abnormalities can be transmitted to the next generation, identiﬁcation of these rare genetic disorders is crucial for men with unexplained infertility. It is also essential for clinicians and physicians of reproductive medicine and andrologists to initiate genetic evaluation, aneuploidy screening and counseling prior to any therapeutic procedures.

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“…Bardet-Biedl syndrome is an autosomal recessive ciliopathy which results in retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies, and renal abnormalities as the main clinical features. Prenatal ultrasound findings include moderately enlarged hyperechogenic kidneys with absent corticomedullary differentiation, medullary cysts, normal amniotic fluid volume, postaxial polydactyly (40). The VATER association is defined as vertebral defect, anal atresia, tracheoesophageal fistula, and renal dysplasia.…”

Section: Dysplastic Kidneysmentioning

confidence: 99%

Management of antenatally detected kidney malformations

Yulia

Winyard

2018

Early Human Development

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Congenital anomalies of the kidneys and the urinary tract (CAKUT) are one of the most common sonographically identified antenatal malformations. Dilatation of the renal pelvis accounts for the majority of cases, but this is usually mild rather than an indicator of obstructive uropathy. Other conditions such as small through large hyperechogenic and/or cystic kidneys present a significant diagnostic dilemma on routine scanning. Accurate diagnosis and prediction of prognosis is often not possible without a positive family history, although maintenance of adequate amniotic fluid is usually a good sign. Both pre- and postnatal genetic screening is possible for multiple known CAKUT genes but less than a fifth of non-syndromic sporadic cases have detectable monogenic mutations with current technology. In utero management options are limited, with little evidence of benefit from shunting of obstructed systems or installation of artificial amniotic fluid. Often outcome hinges on associated cardiac, neurological or other abnormalities, particularly in syndromic cases. Hence, management centres on a careful assessment of all anomalies and planning for postnatal care. Early delivery is rarely indicated since this exposes the baby to the risks of prematurity in addition to their underlying CAKUT. Parents value discussions with a multidisciplinary team including fetal medicine and paediatric nephrology or urology, with neonatologists to plan perinatal care and clinical geneticists for future risks of CAKUT.

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Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing

Cited by 6 publications

References 13 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

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

Management of antenatally detected kidney malformations

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