Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series

Jing, Xiangyi; Huang, Lv‐Yin; Li, Zhen; Han, Jin Hee; Li, Dong-Zhi

doi:10.1080/01443615.2018.1519693

Cited by 25 publications

(23 citation statements)

References 22 publications

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“…The most common was 22q11 deletion syndrome 15 , which is associated with congenital heart disease. We also found three fetuses with 17q12 deletion syndrome 16 , which is associated with congenital anomalies of the kidney and urinary tract. The only ultrasonographic manifestations in these fetuses were double kidney echo enhancements.…”

Section: Discussionmentioning

confidence: 63%

Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes

Cai

Lin

et al. 2020

Sci Rep

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Many fetuses are found to have ultrasonic abnormalities in the late pregnancy. The association of fetal ultrasound abnormalities in late pregnancy with copy number variations (CNVs) is unclear. We attempted to explore the relationship between types of ultrasonically abnormal late pregnancy fetuses and CNVs. Fetuses (n = 713) with ultrasound-detected abnormalities in late pregnancy and normal karyotypes were analyzed. Of these, 237 showed fetal sonographic structural malformations and 476 showed fetal non-structural abnormalities. Single nucleotide polymorphism (SNP)-based chromosomal microarray (CMA) was performed on the Affymetrix CytoScan HD platform. Using the SNP array, abnormal CNVs were detected in 8.0% (57/713) of the cases, with pathogenic CNVs in 32 cases and variants of uncertain clinical significance (VUS) in 25 cases. The detection rate of abnormal CNVs in fetuses with sonographic structural malformations (12.7%, 30/237) was significantly higher (P = 0.001) than that in the fetuses with non-structural abnormalities (5.7%, 27/476). Overall, we observed that when fetal sonographic structural malformations or non-structural abnormalities occurred in the third trimester of pregnancy, the use of SNP analysis could improve the accuracy of prenatal diagnosis and reduce the rate of pregnancy termination.

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Section: Discussionmentioning

confidence: 63%

Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes

Cai

Lin

et al. 2020

Sci Rep

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“…The vast majority of these cases were from the older literature before HNF1B-related disorders were recognized as a major cause of fetal renal HE 10 and before the suggestion that this disorder should be evaluated for all cases of fetal HEK. 22,23 It is likely that a significant proportion of those cases were truly HNF1B-related disorders which would now be detected by routine chromosomal microarray, exonic level deletion/duplication analysis and gene sequencing.…”

Section: Discussionmentioning

confidence: 99%

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

et al. 2021

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Objectives: To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK). Methods: We conducted a retrospective chart review of HEK in British Columbia (January 2013-December 2019) and literature review. Results: We identified 20 cases of HEK without other anomalies (isolated) in our provincial cohort, one was lost to follow-up. Eight had testable genetic etiologies (autosomal dominant polycystic kidney disease [ADPKD], autosomal recessive polycystic kidney disease [ARPKD], Bardet-Biedl syndrome [BBS], and HNF1Brelated disorder). The remaining seven did not have an identifiable genetic etiology. Of cases without a genetic etiology with postnatal follow-up (n ¼ 6) there were no abnormalities of blood pressure, creatinine/estimated glomerular filtration rate or urinalysis identified with follow-up from 2-71 months. We report 11 cases with extrarenal anomalies (nonisolated), with outcomes and etiologies. We identified 224 reported cases of isolated HEK in the literature. A potentially testable genetic etiology was found in 128/224 (57.1%). The neonatal death rate in those with testable etiologies was 17/128 (13.3%) compared to 2/96 (2.1%) when testable etiologies were excluded. Conclusions: Genetic etiologies (ARPKD, ADPKD, BBS, HNF1B-related disorder, Beckwith-Wiedemann syndrome, tubular dysgenesis, familial nephroblastoma, and cytogenetic abnormalities) account for approximately half of prenatally isolated HEK; once excluded there are few neonatal deaths and short-term renal outcomes may be normal. There remains a paucity of knowledge about long-term renal outcomes. Key Points What is already known about this topic? � Fetal hyperechogenic kidneys are associated with a wide range of etiologies and outcomes � There is a paucity of evidence regarding long-term renal outcomes What does this study add? � Testable genetic etiologies account for approximately half of cases without other anomalies on prenatal ultrasound � In live births of hyperechogenic kidneys without other anomalies on prenatal ultrasound, if genetic testing excludes select genetic etiologies

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“…For example, children with the 16q24.2 deletion or the17q12 microdeletion usually manifest both ASD and various congenital abnormalities of the kidney and urinary tract, including dilation of the renal pelvis, 30,31,[53][54][55] ; some of these congenital abnormalities could indeed be identified in prenatal ultrasound scans. [27][28][29]31 Another example is Phelan-McDermid syndrome, caused by 22q13 deletion or by disruptive mutations in SHANK3, one of the most common monogenic causes of ASD, with renal abnormalities being found in 25-38% of children with this syndrome. 7,56 As mentioned above, higher odds of an ASD diagnosis were significantly associated with cardiac UFAs, including echogenic intracardiac focus, which is considered a "soft marker" associated with various genetic anomalies, 36 and ventricular septal defect, which is a structural malformation that may progress to congenital heart disease (CHD) after birth.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…[20][21][22][23][24][25] Indeed, recent postnatal studies have found indications of the prenatal onset of abnormal neurodevelopment in children with ASD, 21 and some prenatal studies have provided preliminary indications for higher rates of structural anomalies both in the renal system of fetuses later developing into children with ASD and in children with specific genetic syndromes associated with ASD. [26][27][28][29][30][31] Taken together, these findings suggest that ASD may be associated with abnormal embryonic organogenesis of different body parts, which consequently leads to postnatal malformations in some children with ASD. 8,21,32,33 Accordingly, there is emerging interest in examining the prenatal organ development of fetuses later developing into children diagnosed with ASD.…”

Section: Introductionmentioning

confidence: 99%

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Association Between Ultrasonography Fetal Anomalies and Autism Spectrum Disorder

Regev

Hadar

Meiri

et al. 2021

Preprint

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BackgroundPrenatal ultrasound is frequently used to monitor fetal growth and identify fetal anomalies that may suggest genetic or developmental abnormalities which may develop into congenital anomalies and diseases. Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, associated with a wide range of congenital anomalies. Nevertheless, very little has been done to investigate organ development using prenatal ultrasound as a means to identify fetuses with ASD susceptibility.MethodsA retrospective matched case-sibling-control study. ASD cases were matched to two control groups: typically developing sibling (TDS) closest in age to ASD child; and typically developing population (TDP), matched for age, sex, and ethnicity. The study comprised 659 children: 229 ASD, 201 TDS, and 229 TDP; 471 (71.5%) males.ResultsUltrasonography fetal anomalies (UFAs) were found in 29.3% of ASD cases vs. only 15.9% and 9.6% in the TDS and TDP groups (aOR=2.23, 95%CI=1.32-3.78, and OR=3.50, 95%CI=2.07-5.91, respectively). Also, multiple co-occurring UFAs were significantly more prevalent among ASD cases. UFAs in the urinary system, heart, and head&brain were the most significantly associated with ASD diagnosis (aORUrinary =2.08, 95%CI=0.96-4.50 and ORUrinary=2.90, 95%CI=1.41-5.95; aORHeart=3.72, 95%CI=1.50-9.24 and ORHeart=8.67, 95%CI=2.62-28.63; and aORHead&Brain=1.77, 95%CI=0.68-4.64 and ORHead&Brain=6.50, 95%CI=1.47-28.80; vs. TDS and TDP, respectively). ASD fetuses were characterized by a narrower head and a relatively wider ocular-distance vs. TDP fetuses (ORBPD=0.81, 95%CI=0.70-0.94, and aOROcular-Distance=1.29, 95%CI=1.06-1.57). Finally, UFAs were associated with more severe ASD symptoms.ConclusionsOur findings shed important light on the abnormal multiorgan embryonic development of ASD and suggest fetal ultrasonography biomarkers for ASD.

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Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series

Cited by 25 publications

References 22 publications

Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes

Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

Association Between Ultrasonography Fetal Anomalies and Autism Spectrum Disorder

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