Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome

Shefi, Shai; Raviv, Gil; Rienstein, Shlomit; Barkai, Gad; Aviram‐Goldring, Ayala; Levron, Jacob

doi:10.1007/s10815-009-9334-6

Cited by 7 publications

(6 citation statements)

References 10 publications

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“…Testing methodology includes FISH (with the limitations as discussed above) or whole-genome amplification-based technology, such as aCGH or SNP microarray [67]. There are two case reports of IVF/PGT-SR performed specifically for familial 22q11.2DS, the first in 1998 [68,69]. In both cases, the mother was found to have 22q11.2DS after having an affected child.…”

Section: Third-trimester Ultrasoundmentioning

confidence: 99%

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Blagowidow

Nowakowska²,

Schindewolf

et al. 2023

Genes

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Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions. Screening options include noninvasive prenatal screening (NIPS) and imaging. The potential benefits and limitations of each screening method should be clearly conveyed. NIPS, a genetic option available from 10 weeks gestational age, has a 70–83% detection rate and a 40–50% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS. Findings vary, related to detection methods, gestational age, and relative specificity. Conotruncal cardiac anomalies are more strongly associated than skeletal, urinary tract, or other congenital anomalies such as thymic hypoplasia or cavum septi pellucidi dilatation. Among others, intrauterine growth restriction and polyhydramnios are additional associated, prenatally detectable signs. Preconception genetic counselling should be offered to males and females with 22q11.2DS, as there is a 50% risk of transmission in each pregnancy. A previous history of a de novo 22q11.2 microdeletion conveys a low risk of recurrence. Prenatal genetic counselling includes an offer of screening or diagnostic testing and discussion of results. The goal is to facilitate optimal perinatal care.

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Section: Third-trimester Ultrasoundmentioning

confidence: 99%

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Blagowidow

Nowakowska²,

Schindewolf

et al. 2023

Genes

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“…PGD aims at the selection of an embryo without 22q11.2 deletion by analysis of cells taken from oocytes, zygotes or embryos produced by in vitro fertilization (IVF), and then transporting them into the womb. The biopsied cells are analysed by the FISH (fluorescent in situ hybridization) method [ 91 ]. The first PGD by FISH for 22q11.2DS was reported almost twenty years ago, but currently it is very rarely used [ 92 ].…”

Section: Individual Levelmentioning

confidence: 99%

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Karbarz

2020

Genes

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Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level, like in the case of monozygotic twins, phenotypes are expressed differently in 22q11.2 deletion individuals. The rest of the genome, as well as epigenome and environmental factors, are not without influence on the variability of phenotypes. The penetrance seems to be more genotype specific than deleted locus specific. The transcript levels of deleted genes are not usually reduced by 50% as assumed due to haploinsufficiency. 22q11.2DS is often an undiagnosed condition, as each patient may have a different set out of 180 possible clinical manifestations. Diverse dysmorphic traits are present in patients from different ethnicities, which makes diagnosis even more difficult. 22q11.2 deletion syndrome serves as an example of a genetic syndrome that is not easy to manage at all stages: diagnosis, consulting and dealing with.

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“…Our case had TOF, one of the common DGS associated CHD, which highlights the importance of fetal echocardiogram in the prenatal detection of this syndrome. A fetus at risk should undergo a level II ultrasound with fetal echocardiogram to evaluate for the following anomalies: congenital heart disease; airway, palate, swallowing, and gastrointestinal defects possibly leading to polyhydramnios (congenital diaphragmatic hernia, tracheoesophageal fistula, subglottic stenosis, vascular ring, laryngeal web, and cleft palate/cleft lip/palate); renal anomalies; skeletal differences such as club foot and craniosynostosis; and umbilical and inguinal hernia [6]. Vora et al [7] support the notion that the level of suspicion for the 22q11.2 DGS should be very high if any one of the minor signs on USG (cleft lip/palate, polyhydramnios, intrauterine growth restriction, renal abnormalities, absent or hypoplastic thymus) is present along with a heart defect or in conjunction with cleft palate or polyhydramnios.…”

Section: Discussionmentioning

confidence: 99%