Prenatal diagnosis of a 22q11 deletion in a second‐trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome

Canda, Mehmet Tunç; Demir, Namık; Bal, Filiz; Doğanay, Latife; Sezer, Orçun

doi:10.1111/j.1447-0756.2011.01770.x

Cited by 11 publications

(5 citation statements)

References 22 publications

(37 reference statements)

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“…The variable expression of the 22q11.2 deletion and a low threshold for clinical testing has resulted in its association in case reports or small case series with myriad other findings (e.g. fetal megalourethra, split‐hand/foot malformation, congenital diaphragmatic hernia, umbilical or inguinal hernia, tracheoesophageal fistula/esophageal atresia/laryngeal atresia, polydactyly, craniosynostosis, and neurological abnormalities like neural tube defects and arhinencephaly) . Increased nuchal translucency, polyhydramnios, and intrauterine growth restriction may be consequences of the 22q11.2 deletion and/or of associated congenital anomalies .…”

Section: Epidemiology and Prevalence Of 22q112 Deletions In Prenatalmentioning

confidence: 99%

“…fetal megalourethra, split-hand/foot malformation, congenital diaphragmatic hernia, umbilical or inguinal hernia, tracheoesophageal fistula/esophageal atresia/laryngeal atresia, polydactyly, craniosynostosis, and neurological abnormalities like neural tube defects and arhinencephaly). 12,[26][27][28][29] Increased nuchal translucency, polyhydramnios, and intrauterine growth restriction may be consequences of the 22q11.2 deletion and/ or of associated congenital anomalies. 12,24,[30][31][32] One recent study reported dilation of the cavum septum pellucidum in 67.5% of second trimester fetuses with 22q11.2 deletions.…”

Section: Epidemiology and Prevalence Of 22q112 Deletions In Prenatalmentioning

confidence: 99%

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Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting

2016

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Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11.2 deletions include intellect ranging from intellectual disability to average, schizophrenia and other treatable psychiatric conditions, epilepsy, and early-onset Parkinson’s disease. However, there is currently no way to predict how severe the lifetime expression will be. Available evidence suggests no major role in these neuropsychiatric outcomes for the congenital cardiac or most other structural anomalies that may be detectable on ultrasound. This article provides an outline of the lifetime neuropsychiatric phenotype of 22q11.2 deletion syndrome that will be useful to clinicians involved in prenatal diagnosis and related genetic counselling. The focus is on information that will be most relevant to two common situations: detection of a 22q11.2 deletion in a fetus or newborn, and new diagnosis of 22q11.2 deletion syndrome in a parent without a previous molecular diagnosis.

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Section: Epidemiology and Prevalence Of 22q112 Deletions In Prenatalmentioning

confidence: 99%

Section: Epidemiology and Prevalence Of 22q112 Deletions In Prenatalmentioning

confidence: 99%

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting

2016

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“…Subsequently in 2002, the third child previously reported by Kousseff [1984] was found to have a deletion on 22q11 by FISH [Forrester et al, ]. A few other reports of myelomeningocele in individuals with 22q11.2DS have been reported in detail in the medical literature [Toriello et al, ; Palacios et al, ; Nickel et al, ; Nickel and Magenis, ; Seller et al, ; Maclean et al, ; Kinoshita et al, ; Canda et al, ; McDonald‐McGinn et al, ].…”

Section: Introductionmentioning

confidence: 99%

Neural tube defects and atypical deletion on 22q11.2

Leoni

Stevenson

Geiersbach

et al. 2014

American J of Med Genetics Pt A

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The 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion disorder. Most of the patients show the common 3 Mb deletion but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected particularly with the advance of comparative cytogenomic microarray technologies. The individuals reported in the literature with unusual deletions involving the 22q11 region, showed milder facial phenotypes, decreased incidence of cardiac anomalies and intellectual disability. We describe two sibs with an atypical 0.8 Mb microdeletion of chromosome 22q11 who both showed myelomeningocele and mild facial dysmorphisms. The association between neural tube defect and the clinical diagnosis of Di George anomaly/velocardiofacial syndrome is well documented in the literature, but not all cases had molecular studies to determine breakpoint regions. This report helps to narrow a potential critical region for neural tube defects associated with 22q11 deletions.

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“…A 2q35-36.2 deletion containing the PAX3 gene has been reported in patients with NTD 18,42 . A 22q11.2 deletion syndrome has also been reported, but the link to NTD is unclear 19,43 . Similarly, a SOX duplication (Xq27.1) has been diagnosed in a few patients with myelomeningocele 20 .…”

Section: Discussionmentioning

confidence: 99%

“…Chromosomal abnormalities have been reported in 2.6-16.3% of fetuses or newborns with NTDs, with the most common being trisomy 13, trisomy 18 and triploidy [12][13][14][15][16][17] . Some microdeletions and microduplications have also been reported to be associated with NTDs [18][19][20][21] .…”

Section: Introductionmentioning

confidence: 99%

Implication of chromosomal microarray analysis prior to in‐utero repair of fetal open neural tube defect

Zemet

Krispin

Johnson

et al. 2023

Ultrasound in Obstet & Gyne

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Objective In‐utero repair of open neural tube defects (ONTD) is an accepted treatment option with demonstrated superior outcome for eligible patients. While current guidelines recommend genetic testing by chromosomal microarray analysis (CMA) when a major congenital anomaly is detected prenatally, the requirement for an in‐utero repair, based on the Management of Myelomeningocele Study (MOMS) criteria, is a normal karyotype. In this study, we aimed to evaluate if CMA should be recommended as a prerequisite for in‐utero ONTD repair. Methods This was a retrospective cohort study of pregnancies complicated by ONTD that underwent laparotomy‐assisted fetoscopic repair or open‐hysterotomy fetal surgery at a single tertiary center between September 2011 and July 2021. All patients met the MOMS eligibility criteria and had a normal karyotype. In a subset of the pregnancies (n = 77), CMA testing was also conducted. We reviewed the CMA results and divided the cohort into two groups according to whether clinically reportable copy‐number variants (CNV) were detected (reportable‐CNV group) or not (normal‐CMA group). Surgical characteristics, complications, and maternal and early neonatal outcomes were compared between the two groups. The primary outcomes were fetal or neonatal death, hydrocephalus, motor function at 12 months of age and walking status at 30 months of age. Standard parametric and non‐parametric statistical tests were employed as appropriate. Results During the study period, 146 fetuses with ONTD were eligible for and underwent in‐utero repair. CMA results were available for 77 (52.7%) patients. Of those, 65 (84%) had a normal CMA and 12 (16%) had a reportable CNV, two of which were classified as pathogenic. The first case with a pathogenic CNV was diagnosed with a 749‐kb central 22q11.21 deletion spanning low‐copy‐repeat regions B–D of chromosome 22; the second case was diagnosed with a 1.3‐Mb interstitial deletion at 1q21.1q21.2. Maternal demographics, clinical characteristics, operative data and postoperative complications were similar between those with normal CMA results and those with reportable CNVs. There were no significant differences in gestational age at delivery or any obstetric and early neonatal outcome between the study groups. Motor function at birth and at 12 months of age, and walking status at 30 months of age, were similar between the two groups. Conclusions Standard diagnostic testing with CMA should be offered when an ONTD is detected prenatally, as this approach has implications for counseling regarding prognosis and recurrence risk. Our results indicate that the presence of a clinically reportable CNV should not a priori affect eligibility for in‐utero repair, as overall pregnancy outcome is similar in these cases to that of cases with normal CMA. Nevertheless, significant CMA results will require a case‐by‐case multidisciplinary discussion to evaluate eligibility. To generalize the conclusion of this single‐center series, a larger, multicenter long‐term study should be conside...

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Prenatal diagnosis of a 22q11 deletion in a second‐trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome

Cited by 11 publications

References 22 publications

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting

Neural tube defects and atypical deletion on 22q11.2

Implication of chromosomal microarray analysis prior to in‐utero repair of fetal open neural tube defect

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