Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome

2007 ◽  
Vol 27 (6) ◽  
pp. 535-544 ◽  
Author(s):  
Rebecca Smith-Bindman ◽  
Philip Chu ◽  
James D. Goldberg
Keyword(s):  
Down Syndrome ◽  
Prenatal Ultrasound ◽  
Second Trimester ◽  
Increased Risk

scholarly journals Second-trimester fetal autopsy: A morphological study with prenatal USG correlations and clinical implications

2018 ◽  
Vol 10 (03) ◽  
pp. 338-345
Author(s):  
Chaitra Venkataswamy ◽  
Umamaheswari Gurusamy ◽  
S. Vidhya Lakshmi
Keyword(s):  
Histopathological Examination ◽  
Recurrence Risk ◽  
Final Diagnosis ◽  
Prenatal Ultrasound ◽  
Intrauterine Fetal Death ◽  
Complete Agreement ◽  
Second Trimester ◽  
Fetal Autopsy ◽  
Increased Risk ◽  
Autopsy Examination

ABSTRACT OBJECTIVES: The objective of this study is to analyze the second-trimester fetal autopsies and to reemphasize the role of autopsy by comparing autopsy findings with prenatal ultrasound observations. MATERIALS AND METHODS: Retrospective analysis of second-trimester fetal autopsies over a period of 7.5 years (January 2009–June 2016). A standard protocol of autopsy procedure was followed, which included external examination with photography, X-ray, internal examination, and histopathological examination. In fetuses with congenital malformations (CMs), the findings of prenatal ultrasonogram and autopsy examination were compared. RESULTS: We analyzed a total of 66 fetuses, which includes 17 intrauterine fetal death, 49 terminations for CM, and increased risk for chromosomal abnormality. In fetuses with CM, multiple anomalies were more common than a single anomaly. The most common anomalies were seen involving central nervous system (neural tube defect) followed by the genitourinary system. Autopsy confirmed prenatal ultrasound findings in all cases except three. Complete agreement between USG findings and autopsy were seen in 17 cases (39.7%). Additional findings on autopsy were noted in 25 cases (62.2%). Among these, 15 cases had a significant change of recurrence risk due to altered initial ultrasound diagnosis. CONCLUSION: Fetal autopsy plays an important role in arriving at the final diagnosis and detecting the cause of death. This information is very essential for the clinicians, in genetic counseling of the parents, and management of future pregnancies.

Second trimester prenatal ultrasound and screening for Down syndrome

2007 ◽  
Vol 27 (9) ◽  
pp. 884-884 ◽  
Author(s):  
Peter A. Benn ◽  
James F. X. Egan
Keyword(s):  
Down Syndrome ◽  
Prenatal Ultrasound ◽  
Second Trimester

The case of prenatal ultrasound diagnosis of the fetal superior occipital encephalocele in the second trimester of gestation

2018 ◽  
Author(s):  
I.N. Daminov , S.F. Nasirova
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Second Trimester ◽  
External Examination ◽  
Occipital Encephalocele

The case of prenatal ultrasound diagnosis of fetal superior occipital encephalocele at 19 weeks of gestation is presented. The pregnancy was terminated at 20 weeks of gestation. An external examination of the abortus confirmed the prenatal ultrasound diagnosis.

Prenatal ultrasound diagnosis of pulmonary atresia in combination with left atrial isomerism

2017 ◽  
Author(s):  
M Medvedev, M.V. Kubrina, O.S. Zarubina et all
Keyword(s):  
Left Atrial ◽  
Reverse Flow ◽  
Ductus Arteriosus ◽  
Pulmonary Atresia ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Right Atrial ◽  
Second Trimester ◽  
Left And Right ◽  
Atrial Isomerism

Two cases of prenatal ultrasound diagnosis of left atrial isomerism in the second trimester of gestation is presented. These two cases were in combination with pulmonary atresia and right aortic arch. Left atrial isomerism was identify by the digit-like shape of the left and right atrial appendages. The pulmonary atresia was identified on the basis of reverse flow in small pulmonary artery. A right aortic was identified by “U”-shaped confluence of aorta and ductus arteriosus in view of three vessels and trachea. The trachea was located between the vessels. The pregnancies were terminated and prenatal diagnosis was conformed at autopsy

The case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot in the second trimester of gestation

2020 ◽  
Author(s):  
I.N. Daminov
Keyword(s):  
Ultrasound Examination ◽  
Lower Extremities ◽  
Lower Leg ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Type I ◽  
Second Trimester ◽  
Prenatal Counseling ◽  
External Examination ◽  
Fibular Hemimelia

A case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot at 22 weeks of gestation is presented. Ultrasound examination at 22 weeks of gestation revealed hypoplasia of the left fibula and the foot oligodactyly. After prenatal counseling, the patient opted for termination of pregnancy. During external examination of the abortus asymmetry of the lower extremities due to shortening of the left lower leg and oligodactyly of the left foot were noted, those confirmed prenatal ultrasound data.

scholarly journals Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

2021 ◽  
Vol 10 (13) ◽  
pp. 2776
Author(s):  
Miren Altuna ◽  
Sandra Giménez ◽  
Juan Fortea
Keyword(s):  
Down Syndrome ◽  
Functional Outcomes ◽  
Clinical Presentation ◽  
Late Onset ◽  
Current Knowledge ◽  
Epileptic Seizures ◽  
Myoclonic Epilepsy ◽  
Increased Risk ◽  
Number Of Individuals

Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living into late middle age due to improved health care is resulting in an increase in epilepsy prevalence in this population. However, these epileptic seizures are probably underdiagnosed and inadequately treated. This late onset epilepsy is linked to the development of symptomatic Alzheimer’s disease (AD), which is the main comorbidity in adults with DS with a cumulative incidence of more than 90% of adults by the seventh decade. More than 50% of patients with DS and AD dementia will most likely develop epilepsy, which in this context has a specific clinical presentation in the form of generalized myoclonic epilepsy. This epilepsy, named late onset myoclonic epilepsy (LOMEDS) affects the quality of life, might be associated with worse cognitive and functional outcomes in patients with AD dementia and has an impact on mortality. This review aims to summarize the current knowledge about the clinical and electrophysiological characteristics, diagnosis and treatment of epileptic seizures in the DS population, with a special emphasis on LOMEDS. Raised awareness and a better understanding of epilepsy in DS from families, caregivers and clinicians could enable earlier diagnoses and better treatments for individuals with DS.

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