"It's probably nothing, but …" Couples' experiences of pregnancy following an uncertain prenatal genetic result

ConclusionsThe results indicate that health professionals should be mindful of terminology, remember to point out what has been ruled out by the CNV result, and discuss potential coping strategies with the couple. Furthermore, these couples may have a higher need for ultrasound during pregnancy to help reduce worry. More research is needed on the families' long ‐term coping.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research

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ConclusionsThe results indicate that health professionals should be mindful of terminology, remember to point out what has been ruled out by the CNV result, and discuss potential coping strategies with the couple. Furthermore, these couples may have a higher need for ultrasound during pregnancy to help reduce worry. More research is needed on the families' long ‐term coping.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
ConclusionAmong the main causes of reproductive losses in the perinatal period CM of the fetus occupy a leading place. A special role in the complex of measures for the prevention and prevention of hereditary and congenital diseases belongs to prenatal diagnosis, which helps prevent the birth of children with severe malformations, and thus reduce the genetic burden of the population.
Source: Archives of Cardiovascular Diseases Supplements - Category: Cardiology Source Type: research
ConclusionsIsolated talipes detected on prenatal ultrasound carries a generally good prognosis. The incidence of additional abnormalities detected on fetal MRI, aneuploidy, or neurodevelopmental disability is relatively low. However, longitudinal ultrasound assessment during pregnancy and a thorough postnatal evaluation is recommended to rule out associated anomalies which may significantly impact short ‐ and long‐term prognosis.This article is protected by copyright. All rights reserved.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: Systematic review Source Type: research
Abstract Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by recessive mutations in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the case of a woman who interrupted her pregnancy after ultrasound scans revealed a depression of the frontal bone, posterior fossa ano...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
CONCLUSIONS: Our results show that a diagnosis of confirmed isolated mild ventriculomegaly was associated with an increased risk of neurodevelopmental disorders compared to the reference population, but the absolute risk was low and there were no cases of intellectual disability or cerebral palsy. This article is protected by copyright. All rights reserved. PMID: 30168217 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
This article is protected by copyright. All rights reserved. PMID: 30125416 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability. Ideally, p...
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
ABSTRACT Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single‐gene, causing intellectual and neurodevelopmental disability. Ideally, pregnant...
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Tags: Editorial Source Type: research
Abstract Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is the most common cause of severe neonatal thrombocytopenia and intracranial bleeding in term newborns. Intracranial hemorrhage (ICH) commonly results in death or severe, lasting neurologic disability. The timing of ICH is also important for management of the next affected pregnancy in cases of FNAIT. This manuscript reviews the advantages and disadvantages of the different radiologic methodologies to identify and characterize ICH. It discusses the limits of ultrasound and the advantages of magnetic resonance imaging allowing avoidance of the radiation associ...
Source: Pediatric Blood and Cancer - Category: Cancer & Oncology Authors: Tags: REVIEW Source Type: research
Seven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed. “It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer. After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April. Jennifer felt the baby’s first kicks on Nov. 23, 2015. The next day, she was scheduled for an a...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our Patients’ Stories Advanced Fetal Care Center bilateral perisylvian polymicrogyria Dr. Benjamin Warf Dr. Christopher Elitt Second opinion ventriculomegaly Source Type: news
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