Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia

Chen, Chih‐Ping; Wang, Yeou-Lih; Chern, Schu‐Rern; Liu, Yu-Peng; Peng, Cheng-Ran; Kuo, Yu-Ling; Wu, Peih-Shan; Chen, Wenlin; Wang, Wayseen

doi:10.1016/j.tjog.2014.12.001

Cited by 3 publications

(2 citation statements)

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“…Previously used methods, such as karyotyping and different types of gene dose arrays, have recently been replaced by different massive parallel sequencing (MPS) approaches. [23][24][25][26] were collected. There were 83 active participating centers that reported to the registry (specified in the Appendix) that includes prospectively collected information on newborns with CDH until death or discharge.…”

Section: Introductionmentioning

confidence: 99%

“…Genetic testing, both prenatal and postnatal, has evolved during the years. Previously used methods, such as karyotyping and different types of gene dose arrays, have recently been replaced by different massive parallel sequencing (MPS) approaches 23–26 . MPS in modern clinical genetic practice includes either exome sequencing or genome sequencing technologies.…”

Section: Introductionmentioning

confidence: 99%

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Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry

et al. 2023

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Background:The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH.Methods: Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.Results: A total of 12,553 patients were entered in the registry during the study period, and 421 had reported known syndromes, representing 3.4% of all CDH cases in the registry. A total of 50 different associated syndromes were reported. In addition to those with clinically suspected genetic conditions, a total rate of genetic syndromes with CDH was 8.2%. The overall survival to discharge for syndromic CDH was 34% and for non-syndromic CDH was 76.7%. The most common were syndromes Fryns syndrome (19.7% of all syndromes, 17% survival), trisomy 18 or Edward syndrome (17.5%, 9% survival), trisomy 21 or Down syndrome (9%, 47% survival), trisomy 13 or Patau syndrome (6.7%, 14% survival), Cornelia de Lange syndrome (6.4% of all syndromes, 22% survival) and Pallister-Killian syndrome (5.5% of all syndromes, 39.1% survival). In addition, 379 cases had reported chromosomal anomalies and 233 cases had clinically suspected syndromes, based on two more dysmorphic features or malformations in addition to CDH, but without molecular diagnosis.The syndromic CDH group had lower birth weight and gestational age at birth and increased incidence of bilateral CDH (2.9%) and rates of non-repair (53%). The length of hospital stay was longer, and larger number of patients needed O 2 at 30 days. Extracorporeal life support was used only in 15% of the cases. Those who underwent surgical repair had survival to discharge rates of 73%.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry

et al. 2023

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Syndrome de Pallister-Killian : confrontation des données prénatales et fœtopathologiques de six cas et revue de la littérature

Desseauve

Legendre

Dugué-Maréchaud

et al. 2016

Gynécologie Obstétrique & Fertilité

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Congenital diaphragmatic hernia. A systematic analysis

Ovsyannikov

Kosovtsova²,

Ryabokon

et al. 2022

Journal of obstetrics and women's diseases

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Congenital diaphragmatic hernia is a condition characterized by a defect in the diaphragm that leads to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the fetal lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of the diaphragm. The pathophysiology of congenital diaphragmatic hernia is a combination of lung hypoplasia and immature birth associated with persistent pulmonary hypertension of the newborn and cardiac dysfunction. Prenatal assessment of the lung-to-head ratio and the position of the liver (presence or absence of a liver lobe in the chest) by ultrasound are used to diagnose and predict outcomes. Delivery of infants with congenital diaphragmatic hernia is recommended close to term gestation. Immediate management at birth includes bowel decompression, avoidance of mask ventilation and endotracheal tube placement if required. The primary focus of management includes gentle ventilation of the lungs, hemodynamic monitoring and treatment of pulmonary hypertension, followed by preparation for surgery only after stabilization of the newborns condition. Although the US Food and Drug Administration do not approve inhaled nitric oxide, it is commonly used to treat persistent pulmonary hypertension of the newborn induced by congenital diaphragmatic hernia. Extracorporeal membrane oxygenation is usually considered after failure of standard resuscitative interventions in neonates with congenital diaphragmatic hernia born at 34 weeks of gestational age or with body weight 2 kg and no associated gross fetal anomalies. Multiple factors such as premature birth, congenital anomalies, severity of pulmonary hypertension, type of postpartum recovery, and the need for extracorporeal membrane oxygenation affect the overall survival of infants with congenital diaphragmatic hernia. Thanks to advances in the management of patients with congenital diaphragmatic hernia, overall survival has increased, reaching 7090 %, and with the use of extracorporeal membrane oxygenation up to 50 %.

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Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia

Abstract: Prenatal diagnosis of right CDH should raise a suspicion of chromosomal abnormalities especially trisomy 21 and the association of Morgagni hernia.

Cited by 3 publications

References 48 publications

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry

Syndrome de Pallister-Killian : confrontation des données prénatales et fœtopathologiques de six cas et revue de la littérature

Congenital diaphragmatic hernia. A systematic analysis

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