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Prenatal diagnosis of Joubert syndrome: A case report.
Radiol Case RepYen VTH.
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Microarrays in prenatal diagnosis.
Best Practice & Research Clinical Obstetrics & Gynaecology, 2017In prenatal diagnosis, chromosomal microarray (CMA) has not yet fully replaced conventional karyotyping but has rapidly become the recommended test in pregnancies with ultrasound abnormalities. In this review, we provide an overview of the published data concerning this technology and the controversies concerning its use in the prenatal setting.
B. Oneda, A. Rauch
semanticscholar +4 more sources
Prenatal Diagnosis, 2020
The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.
Jin Han +9 more
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The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.
Jin Han +9 more
semanticscholar +1 more source
The Indian Journal of Pediatrics, 2003
With the leaping advances in knowledge of genetics, its applications in patient management are also increasing. Prenatal diagnosis is the most useful application as it offers prospective parents the assurance of having an unaffected child in situations of high recurrence risks. Pretest and post test counseling is an integral part of prenatal diagnosis.
Bettina, Paek +2 more
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With the leaping advances in knowledge of genetics, its applications in patient management are also increasing. Prenatal diagnosis is the most useful application as it offers prospective parents the assurance of having an unaffected child in situations of high recurrence risks. Pretest and post test counseling is an integral part of prenatal diagnosis.
Bettina, Paek +2 more
openaire +4 more sources
Journal of Nurse-Midwifery, 1994
The standards for the practice of nurse-midwifery declare competence in prenatal diagnosis as one of the core competencies for basic nurse-midwifery practice. Encompassing the most frequently encountered situations that involve prenatal diagnostic counselling, this article aims at providing insight to the practicing nurse-midwife into the risks and ...
P, Baumann, B, McFarlin
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The standards for the practice of nurse-midwifery declare competence in prenatal diagnosis as one of the core competencies for basic nurse-midwifery practice. Encompassing the most frequently encountered situations that involve prenatal diagnostic counselling, this article aims at providing insight to the practicing nurse-midwife into the risks and ...
P, Baumann, B, McFarlin
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Pediatrics In Review, 1992
The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality.
J H, DiLiberti +2 more
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The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality.
J H, DiLiberti +2 more
openaire +2 more sources
Prenatal Diagnosis, 2018
The objective of this study was to analyze the benefits associated with prenatal diagnosis of complex congenital heart disease (CHD) on preoperative morbidity, 30‐day and 1‐year mortality in this population.
A. Chakraborty +2 more
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The objective of this study was to analyze the benefits associated with prenatal diagnosis of complex congenital heart disease (CHD) on preoperative morbidity, 30‐day and 1‐year mortality in this population.
A. Chakraborty +2 more
semanticscholar +1 more source
European Journal of Human Genetics, 1997
In Italy, there are about 560,000 births per year. The number of prenatal diagnoses (PND) performed is estimated at 80,000 examinations per year, but no official data are available regarding the distribution of the different procedures. There are no official registers, either at a national or at a regional level, concerning PND and particularly the ...
CLERICI, Graziano +3 more
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In Italy, there are about 560,000 births per year. The number of prenatal diagnoses (PND) performed is estimated at 80,000 examinations per year, but no official data are available regarding the distribution of the different procedures. There are no official registers, either at a national or at a regional level, concerning PND and particularly the ...
CLERICI, Graziano +3 more
openaire +4 more sources
Prenatal diagnosis and management of omphalocele.
Seminars in Pediatric Surgery, 2019Omphalocele (exomphalos) is one of the most common abdominal wall defects. The size of the defect and the severity of the associated anomalies determine the overall morbidity and mortality.
Mariatu A. Verla, C. Style, O. Olutoye
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