Prenatal Diagnosis of Absent Pulmonary Valve Syndrome in Association With 22q11 Deletion

Sleurs, E.; Catte, Luc De; Benatar, Abraham

doi:10.7863/jum.2004.23.3.417

Cited by 17 publications

(13 citation statements)

References 14 publications

(6 reference statements)

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“…Comparing infants with VCFS and CHD to those with Down syndrome, other genetic syndromes, and nonsyndromic cases of CHD, the highest mortality rate was seen in children with VCFS. Heart anomalies have also played a role in prenatal diagnosis [45]. The increased application of high-level ultrasonic examinations of the fetus will undoubtedly increase the number of prenatal detections of VCFS, necessitating obstetricians to know the phenotypic spectrum of VCFS so that FISH can be applied when appropriate.…”

Section: Heart Anomaliesmentioning

confidence: 99%

Velo-cardio-facial syndrome

Shprintzen

Higgins²,

Antshel

et al. 2005

Current Opinion in Pediatrics

102

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Its high population prevalence, estimated to be as common as 1:2000 has sparked a large amount of research, as has the model the syndrome serves for identifying the causes of mental illness and learning disabilities, but it is obvious that more information is needed. Intensive scrutiny of velo-cardio-facial syndrome will undoubtedly continue for many years to come with the hope that researchers will turn more of their attention to treatment and treatment outcomes.

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Section: Heart Anomaliesmentioning

confidence: 99%

Velo-cardio-facial syndrome

Shprintzen

Higgins²,

Antshel

et al. 2005

Current Opinion in Pediatrics

102

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“…In utero progressive enlargement of the central pulmonary arteries may also provide an explanation for the commonly observed late prenatal diagnosis of fetuses with APVS. Most case reports and the majority of the cases reported in fetal series, including ours, have been diagnosed after 22 weeks' gestation and almost all of them had a scan performed previously at 20–22 weeks4–8, 11. It is well known that the four‐chamber anatomy may seem absolutely normal in many conotruncal malformations26.…”

Section: Discussionmentioning

confidence: 80%

“…It is almost always associated with a massive enlargement of the pulmonary trunk and its branches1, 2. APVS has been described as an isolated anomaly3–5, but it is usually associated with tetralogy of Fallot (TOF)4–8. The absence of the ductus arteriosus is also a common but not a consistent feature of this syndrome9, 10.…”

Section: Introductionmentioning

confidence: 99%

“…Prenatal diagnosis of APVS is feasible and has been reported in three case series4, 5, 11 and in several case reports6–8. Prenatal detection of the defect is usually made in the second half of pregnancy.…”

Section: Introductionmentioning

confidence: 99%

“…Prenatal detection of the defect is usually made in the second half of pregnancy. The perinatal mortality rate is above 60%, closely related to the existence of severe heart failure and/or associated malformations4, 6–8, 10. This may explain the different levels of incidence reported in pre‐ and postnatal series; while postnatally APVS accounts for 3–6% of all patients with TOF12 and for 0.2–0.4% of liveborn infants with CHD13, its incidence in fetal life is higher, with figures close to 15–20% of all cases with TOF and 1% of all CHD14.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Photoelectrochemical Energy Conversion

Lewerenz

2012

ChemPhysChem

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With the 5th Gerischer Symposium on Photoelectrochemical Energy Conversion, this symposium series has returned to the main field of Heinz Gerischer's work. More than 50 years after Gerischer's early seminal contributions, we witness a renaissance of the field that is fuelled by the search for alternative energy generation in a time when atmospheric poisoning is not negligible anymore. Indicators for the renewed interest in photoelectrochemical energy conversion are, among other activities, the establishment of a solar fuel hub (the Joint Center for Artificial Photosynthesis) in California, the founding of several solar-fuel-related Energy Frontier Research Centers in the USA, the founding of a Solar Fuel Institute at the Helmholtz Center Berlin and the instalment of a Priority Program of the Deutsche Forschungsgemeinschaft on photoelectrocatalysis.The response by the international community was overwhelming and we had to select the most suited contributions because of limited space for poster presentations and for oral contributions. We were additionally lucky that virtually all renowned international experts were positively responding to our invitation, giving the meeting the character of an intense high-level scientific exchange. The symposium topics were chosen according to the relevant developments in the field of solar fuels and of photovoltaic energy conversion at the semiconductor-electrolyte phase boundary. These topics, for example, Charge Transfer, General Photoelectrochemistry, Interfaces, Materials, Photoelectrochemistry: Catalysis, Photoelectrochemistry: Photovoltaics, and Bioinspired Systems reflect the breadth of the present approaches. They also show the necessity and challenge for multi-disciplinary research, which is one of the fascinating characteristics of photoelectrochemistry.

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Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: A case report

Gül

Güngördük

Turan

et al. 2012

J of Clinical Ultrasound

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Chromosome 22q11.2 deletion syndrome is a common genetic disorder, also known as DiGeorge syndrome. It occurs in approximately 1:4,000 births, and the incidence is increasing due to affected parents bearing their own affected children. We report the prenatal diagnosis of 22q11.2 deletion syndrome by fluorescence in situ hybridization in twin fetuses having tetralogy of Fallot with absent pulmonary valve.

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Prenatal Diagnosis of Absent Pulmonary Valve Syndrome in Association With 22q11 Deletion

Cited by 17 publications

References 14 publications

Velo-cardio-facial syndrome

Velo-cardio-facial syndrome

Photoelectrochemical Energy Conversion

Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: A case report

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