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Genetics of stillbirth.
Wapner RJ. Clin Obstet Gynecol 2010. PMID 20661047
Mendelian and metabolic causes of stillbirth are less well understood although single gene disorders can result in stillbirth. With new cytogenetic and molecular technologies additional genetic causes of stillbirth are likely to be described and will provide additional information for appropriate genetic counseling....
Mendelian and metabolic causes of stillbirth are less well understood although single gene disorders can result in stillbirth. …
Stillborn Infants: Associated Malformations
Holmes LB, et al. Birth Defects Res 2018. PMID 29377646
BACKGROUND: Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the United States. ...CONCLUSION: An autopsy of the stillborn fetus, including chromosome microarray and an examination of the placenta, can identify the underlying causes of the stillbirth. ...
BACKGROUND: Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the Uni …
Inherited predisposition to stillbirth: an intergenerational analysis of 26,788 mother-daughter pairs.
Woolner AMF, et al. Am J Obstet Gynecol 2019 - Clinical Trial. PMID 30682364
The main exposure was the mother's history of stillbirth. The primary outcome was stillbirth in any of the daughter's pregnancies. ...CONCLUSION: This is the first study to investigate an inherited predisposition to stillbirth. There was no evidence of an inherited predisposition to stillbirth transmitted from mother to daughter....
The main exposure was the mother's history of stillbirth. The primary outcome was stillbirth in any of the daughter's pregnanc …
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths
Munroe PB, et al. Circ Genom Precis Med 2018. PMID 29874177 Free article.
BACKGROUND: Although stillbirth is a significant health problem worldwide, the definitive cause of death remains elusive in many cases, despite detailed autopsy. ...CONCLUSIONS: Although a causative link is unclear, 1 putative pathogenic and variants of uncertain significance variant resulting in cardiac channelopathies was identified in some cases of otherwise unexplained stillbirth, and these variants may have a role in fetal demise. ...
BACKGROUND: Although stillbirth is a significant health problem worldwide, the definitive cause of death remains elusive in many case …
Human leukocyte antigen DQ2/DQ8 positivity in women with history of stillbirth.
Cozzolino M, et al. Am J Reprod Immunol 2018 - Clinical Trial. PMID 30125434
RESULTS: The population included 56 women with a previous term stillbirth and 379 women with history of uncomplicated pregnancies. ...Women with HLA DQ8 genotype have a significantly higher risk of stillbirth (OR: 2.84 CI: 1.1840-6.817) and in case of DQ2 genotype the OR for stillbirth was even higher (OR: 4.46 CI: 2.408-8.270). ...
RESULTS: The population included 56 women with a previous term stillbirth and 379 women with history of uncomplicated pregnancies. .. …
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E, et al. PLoS One 2019. PMID 30615648 Free PMC article.
The incidence of stillbirth in Sweden has essentially remained constant since the 1980's, and despite thorough investigation, many cases remain unexplained. It has been suggested that a proportion of stillbirth cases is caused by heart disease, mainly channelopathies. The aim of this study was to analyze DNA from 290 stillbirth cases without chromosomal abnormalities for pathogenic single nucleotide variants (SNVs) in 70 genes associated with cardiac channelopathies and cardiomyopathies. ...
The incidence of stillbirth in Sweden has essentially remained constant since the 1980's, and despite thorough investigation, many ca …
Smith-Lemli-Opitz Mutations in Unexplained Stillbirths
Gibbins KJ, et al. Am J Perinatol 2018 - Clinical Trial. PMID 29433144 Free PMC article.
Cases with stillbirth due to obstetric complications, infection, or aneuploidy, and those with poor quality deoxyribonucleic acid (DNA) were excluded. ...This does not support a strong association between unrecognized DHCR7 mutations and stillbirth....
Cases with stillbirth due to obstetric complications, infection, or aneuploidy, and those with poor quality deoxyribonucleic acid (DN …
What is new in stillbirth?: important recent articles.
Andrews WW. Obstet Gynecol 2015 - Review. PMID 25560119
This month we focus on current research in stillbirth. Dr. Andrews discusses five recent publications, and each is concluded with a "bottom line" that is the take-home message. ...
This month we focus on current research in stillbirth. Dr. Andrews discusses five recent publications, and each is concluded with a " …
Giant Hepatic Hemangioma and Placental Chorangiosis: A Unique Case of Stillbirth?
Paudice M, et al. Fetal Pediatr Pathol 2019. PMID 30676122
CASE REPORT: We present a macrosomic stillbirth at 39 + 3 weeks of gestation with congestive heart failure (CHF) and myocardial infarction. ...
CASE REPORT: We present a macrosomic stillbirth at 39 + 3 weeks of gestation with congestive heart failure (CHF) and myocardial infar …
In a Genomic Era, Placental Pathology Still Holds the Key in the Nondysmorphic Stillbirth.
Campbell J, et al. Pediatr Dev Pathol 2018. PMID 28990860
Sixty-six microarray analyses were performed, and 2 (3%) of the results were thought likely to reflect cause of stillbirth (1 case of incomplete trisomy 4 and 1 case of deletion of chromosome Xp in a female). ...Conclusions We reaffirm the utility of placental examination in the investigation of stillbirth. In cases of nondysmorphic stillbirth where placental pathology does not explain the cause of stillbirth, microarray analysis of fetal DNA can add further diagnostic information in 3% of cases but can add further diagnostic confusion, and it is important that parental bloods are taken to minimize this risk....
Sixty-six microarray analyses were performed, and 2 (3%) of the results were thought likely to reflect cause of stillbirth (1 case of …
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