Praenatalisan diagnosztizált                     Pallister–Killian-szindróma esete

Tidrenczel, Zsolt; Tardy, Erika P.; Sarkadi, Edina; Simon, J; Beke, Artúr; Demeter, János

doi:10.1556/650.2018.31015

Cited by 4 publications

(1 citation statement)

References 25 publications

(22 reference statements)

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“…Az összes kromoszóma egyidejű FISH-analízisét a többféle, akár 24 színt generáló fluorokrómkombinációjú próbákkal lehet elérni (multicolour FISH), vagy csak három fluorokrómcsatornán többféle kombinációjú próbákkal végigléptetni a mintát (multiprobe rendszerek). A praenatalis gyakorlatban ezek a metodikák elengedhetetlenek a ritka genetikai szindrómák felismerésében [7]. A FISH-módszer hazai elterjedése mellett a Semmelweis Egyetem I. Szülészeti Klinikájának munkacsoportja úttörő munkát végzett a qfPCR-technika magyarországi bevezetésében.…”

Section: Megbeszélésunclassified

A microarray-komparatív genomhibridizálás (arrayCGH) praenatalis alkalmazása. Javaslat a hazai bevezetésre

Tidrenczel¹,

Tardy

Pikó

et al. 2019

Orvosi Hetilap

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Invasive prenatal testing and conventional G-banding chromosome analysis have been considered to be the gold standard of fetal cytogenetic diagnosis. Standard karyotyping is, however, constrained by the limits of the resolution of using a microscope. The advantage of molecular karyotyping, array based methods is the evaluation of sub-microscopic copy number changes across the whole genome in a single analysis. The application of array comparative genome hybridization has greatly increased the detection of pathogenic chromosomal abnormalities in prenatal settings. Based on available data in the international literature of the last decade, the clinical utility of arrayCGH is the recognition of some 1–2% and 5–7% additional genetical information compared to metaphase karyotype alone in fetuses without ultrasound anomaly and in fetuses with ultrasonographically detected malformations, respectively. Thus arrayCGH improves the prenatal diagnosis of genetic abnormalities mainly in fetuses with structural sonographic findings. In the present paper we review the literature of chromosomal microarray and make a proposal for the application of the method in Hungarian prenatal genetical practice. Orv Hetil. 2019; 160(13): 484–493.

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Section: Megbeszélésunclassified

A microarray-komparatív genomhibridizálás (arrayCGH) praenatalis alkalmazása. Javaslat a hazai bevezetésre

Tidrenczel¹,

Tardy

Pikó

et al. 2019

Orvosi Hetilap

Self Cite

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Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia

2021

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Congenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of patients. Mortality and morbidity remain high despite advances in pre-, intra-, and postnatal management. We review the current literature and give an overview about the genetics of CDH to provide guidelines for clinicians with respect to genetic diagnostics and counseling for families. Until recently, the common practice was (molecular) karyotyping or chromosome microarray if the CDH diagnosis is made prenatally with a 10% diagnostic yield. Undiagnosed patients can be reflexed to trio exome/genome sequencing with an additional diagnostic yield of 10 to 20%. Even with a genetic diagnosis, there can be a range of clinical outcomes. All families with a child with CDH with or without additional malformations should be offered genetic counseling and testing in a family-based trio approach.

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Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature

Tidrenczel

Tardy

Pikó

et al. 2019

Cytogenet Genome Res

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Terminal deletion of chromosome 4 (4q deletion syndrome) is a rare genetic condition that is characterized by a broad clinical spectrum and phenotypic variability. Diagnosis of the distinct condition can be identified by conventional chromosome analysis and small deletions by novel molecular cytogenetic methods such as microarray comparative genome hybridization (aCGH). Prenatal diagnosis is challenging; to date 10 cases have been described. We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 prenatally published cases of 4q deletion syndrome in the literature and compared these with our results. We summarize the patients' characteristics and prenatal clinical findings. Alterations of maternal serum biochemical factors, an elevated combined risk for trisomies, and distinct ultrasonographic findings can often be observed in cases of prenatal 4q deletion syndrome and may facilitate the otherwise difficult prenatal diagnosis.

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Praenatalisan diagnosztizált Pallister–Killian-szindróma esete

Cited by 4 publications

References 25 publications

A microarray-komparatív genomhibridizálás (arrayCGH) praenatalis alkalmazása. Javaslat a hazai bevezetésre

A microarray-komparatív genomhibridizálás (arrayCGH) praenatalis alkalmazása. Javaslat a hazai bevezetésre

Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia

Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature

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