Clinical outcomes following prenatal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and callosal dysgenesis (AVID)

2018 ◽  
Vol 39 (1) ◽  
pp. 26-32 ◽  
Author(s):  
Karen Y. Oh ◽  
Thomas J. Gibson ◽  
Joseph D. Pinter ◽  
David Pettersson ◽  
Brian L. Shaffer ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Outcomes ◽  
Callosal Dysgenesis ◽  
Interhemispheric Cyst

scholarly journals Clinical outcomes of prenatal diagnosis of the fetal micrognathia

Medicine ◽  
2020 ◽  
Vol 99 (4) ◽  
pp. e18648
Author(s):  
Jin-Wen Lu ◽  
Dan Lu ◽  
Xiao-Li Zhang ◽  
Jiao Bai
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Outcomes

scholarly journals Fetal double aortic arch: prenatal sonographic and postnatal computed tomography angiography features, associated abnormalities and clinical outcomes

2020 ◽  
Author(s):  
Qiao Guo ◽  
Yifan Kong ◽  
Shi Zeng ◽  
Jiawei Zhou ◽  
Xiaofang Wang ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
Clinical Outcomes ◽  
Computed Tomography Angiography ◽  
Double Aortic Arch ◽  
Chromosomal Anomalies ◽  
Branching Pattern ◽  
Associated Anomalies ◽  
Fetal Autopsy

Abstract Background: Fetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management. Methods: The obstetric ultrasound imaging databases of seven tertiary referral centers were reviewed retrospectively to identify fetuses with a prenatal diagnosis of DAA between January 2013 and December 2018. Ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes were evaluated. Results: A total of 36 cases out of 40 prenatally diagnosed DAA fetuses were confirmed by postnatal diagnosis (fetal autopsy, CTA, and surgery). In this cohort of 36 confirmed cases, 24 (67%) were isolated anomalies, while 12 (33%) were associated with intracardiac or extracardiac anomalies, and 2 (6%) had a 22q11.2 chromosome deletion. Among nine cases of pregnancy termination with a fetal autopsy, 7 had other abnormalities. Among the remaining 27 live births, 16 (59%) were asymptomatic and 11 (41%) received surgical treatment due to tracheal or esophageal compression symptoms, all with satisfactory outcomes. Prenatal echocardiography showed that DAA was mainly characterized by a bifurcation of the ascending aorta into the right and left aortic arch and the formation of a complete O-shaped vascular ring around the trachea on the three-vessel tracheal view. A variant in the aortic arch branching pattern was found for the first time. The airway obstruction, branching pattern, and atretic arch of DAA were clearly shown by postnatal CTA. Conclusions: Fetal DAA has unique features on prenatal echocardiography and postnatal CTA, and systematic prenatal examination and timely postnatal CTA evaluation are required. A certain proportion of intracardiac and extracardiac abnormalities are associated with DAA, but the probability of chromosome abnormalities is low, especially for isolated DAA.The clinical outcomes of isolated DAA are favorable, even if surgery is performed due to symptoms. Determining whether other malformations or chromosomal anomalies exist is crucial for prognosis evaluation and prenatal counseling.

Prenatal diagnosis, clinical outcomes, and associated pathology in pregnancies complicated by massive subchorionic thrombohematoma (Breus' mole)

2013 ◽  
Vol 33 (10) ◽  
pp. 973-978 ◽  
Author(s):  
Abdulmohsen Alanjari ◽  
Emily Wright ◽  
Sarah Keating ◽  
Greg Ryan ◽  
John Kingdom
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Outcomes

scholarly journals Fetal double aortic arch: prenatal sonographic and postnatal computed tomography angiography features, associated abnormalities and clinical outcomes

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Qiao Guo ◽  
Yifan Kong ◽  
Shi Zeng ◽  
Jiawei Zhou ◽  
Xiaofang Wang ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
Clinical Outcomes ◽  
Computed Tomography Angiography ◽  
Double Aortic Arch ◽  
Chromosomal Anomalies ◽  
Branching Pattern ◽  
Associated Anomalies ◽  
Fetal Autopsy

Abstract Background Fetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management. Methods The obstetric ultrasound imaging databases of seven tertiary referral centers were reviewed retrospectively to identify fetuses with a prenatal diagnosis of DAA between January 2013 and December 2018. Ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes were evaluated. Results A total of 36 cases out of 40 prenatally diagnosed DAA fetuses were confirmed by postnatal diagnosis (fetal autopsy, CTA, and surgery). In this cohort of 36 confirmed cases, 24 (67%) were isolated anomalies, while 12 (33%) were associated with intracardiac or extracardiac anomalies, and 2 (6%) had a 22q11.2 chromosome deletion. Among nine cases of pregnancy termination with a fetal autopsy, 7 had other abnormalities. Among the remaining 27 live births, 16 (59%) were asymptomatic and 11 (41%) received surgical treatment due to tracheal or esophageal compression symptoms, all with satisfactory outcomes. Prenatal echocardiography showed that DAA was mainly characterized by a bifurcation of the ascending aorta into the right and left aortic arch and the formation of a complete O-shaped vascular ring around the trachea on the three-vessel tracheal view. A variant in the aortic arch branching pattern was found for the first time. The airway obstruction, branching pattern, and atretic arch of DAA were clearly shown by postnatal CTA. Conclusions Fetal DAA has unique features on prenatal echocardiography and postnatal CTA, and systematic prenatal examination and timely postnatal CTA evaluation are required. A certain proportion of intracardiac and extracardiac abnormalities are associated with DAA, but the probability of chromosome abnormalities is low, especially for isolated DAA.The clinical outcomes of isolated DAA are favorable, even if surgery is performed due to symptoms. Determining whether other malformations or chromosomal anomalies exist is crucial for prognosis evaluation and prenatal counseling.

Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi

2018 ◽  
Vol 38 (6) ◽  
pp. 395-401 ◽  
Author(s):  
Rachel A. Pilliod ◽  
David R. Pettersson ◽  
Thomas Gibson ◽  
Ladawna Gievers ◽  
Amanda Kim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Clinical Outcomes ◽  
Cavum Septi Pellucidi

scholarly journals The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

2020 ◽  
Author(s):  
Shuang Hu ◽  
Ning Lu ◽  
Xiangdong Kong
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Clinical Outcomes ◽  
Sex Chromosome ◽  
Fetal Malformation ◽  
Abnormal Karyotype ◽  
Chromosome Mosaicism ◽  
Abnormal Pregnancy ◽  
Chromosomal Diseases

Abstract Objective To analyze the karyotype of sex chromosome mosaicism in our prenatal diagnosis of 14034 pregnant women in their second trimester, and report the rate of sex chromosome mosaicism and their clinical outcomes.Methods A retrospective analysis of cytogenetic studies of 14043 cases of pregnant women from the Genetic Counseling Clinic from May 2017 to January 2020 by amniocentesis, were performed. Results A total of 46 cases of sex chromosome mosaicism were found, and the sex chromosome mosaicism rate was 0.328%, mainly including four types of mosaicism: mos45,X/46,XX(12); mos45,X/46,XY (11); mos47XXX(or XXY or XYY)/46XX(or XY)(11); and other types of complex abnormal karyotype mosaic(12). Among the 46 fetuses with sex chromosome mosaicism, the indications of prenatal diagnosis includes the numerical abnormality of sex chromosome by NIPT(23/46)，the high risk of trisomy 21 by serum screening(12/46)，abnomal ultrosound(4/46), the advanced maternal age(age ≥35)(4/46), and the histories of abnormal pregnancy(3/46). According to the results of cytogenetic analysis and genetic counseling, the pregnant women would decide to continue or terminate their pregnancy. Conclusion Prenatal cytogenetic diagnosis by amniocentesis is an accurate and convenient method and helps to avoid the delivery of fetuses with chromosomal diseases and reduce the risk of fetal malformation.

Selecting Skills To Teach Communication Partners: Where Do I Start?

2012 ◽  
Vol 21 (4) ◽  
pp. 127-135 ◽  
Author(s):  
Cathy Binger ◽  
Jennifer Kent-Walsh
Keyword(s):  
Clinical Outcomes ◽  
Intervention Program ◽  
Communication Partners ◽  
Multiple Challenges

Abstract Clinicians and researchers long have recognized that teaching communication partners how to provide AAC supports is essential to AAC success. One way to improve clinical outcomes is to select appropriate skills to teach communication partners. Although this sometimes seems like it should be a straightforward component of any intervention program, deciding which skills to teach partners can present multiple challenges. In this article, we will troubleshoot common issues and discuss how to select skills systematically, resulting in the desired effects for both communication partners and clients.

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