Comparison of prenatal ultrasound findings and autopsy findings in fetuses terminated after prenatal diagnosis of malformations: An experience of a clinical genetics center

2010 ◽  
pp. NA-NA ◽  
Author(s):  
Shubha R. Phadke ◽  
Ashutosh Gupta
Keyword(s):  
Prenatal Diagnosis ◽  
Prenatal Ultrasound ◽  
Clinical Genetics ◽  
Autopsy Findings ◽  
Ultrasound Findings

Lejeune / “cat's cry” syndrome: prenatal ultrasound findings

2017 ◽  
Author(s):  
N.P. Marchenko, E.A. Shevchenko
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Malformations ◽  
Postmortem Examination ◽  
Prenatal Ultrasound ◽  
Nasal Bones ◽  
The Family ◽  
Ultrasound Findings ◽  
Family Decision

The article describes a case of the prenatal diagnosis of Lejeune syndrome in 19 weeks 6 days of gestation. The following sonographic findings were identified: broad bridge, snub nose, hypoplasia of nasal bones and mandible, hypoplasia of the cavity of pellucid septum, ventriculomegaly. The patient was given 46,XX,del(5)(P12)[18] prenatal karyotyping. The family was consulted by the Regional Prenatal Board. The pregnancy was terminated by the family decision. The phenotype characteristics and congenital malformations discovered with the prenatal diagnosis were being then confirmed in the postmortem examination.

A complex tetralogy of Fallot case with an unusual cluster of malformations diagnosed by multiple prenatal ultrasound views

2020 ◽  
Author(s):  
Yun Wu ◽  
Liu-ying Zhou
Keyword(s):  
Congenital Anomaly ◽  
Prenatal Diagnosis ◽  
Tetralogy Of Fallot ◽  
Ductus Arteriosus ◽  
Main Pulmonary Artery ◽  
Innominate Artery ◽  
Mirror Image ◽  
Prenatal Ultrasound ◽  
Ultrasound Findings ◽  
Perinatal Management

Abstract Background Tetralogy of Fallot (TOF) is a complex congenital anomaly with a wide variety of prenatal presentations beyond the core malformations, creating difficulty in prenatal diagnosis, prognosis, and perinatal management. Indeed, TOF should be considered the ‘complex’ of Fallot. Case presentation Through a series of precise prenatal ultrasound views, we describe a rare case of complex TOF with multiple malformations including main pulmonary artery atresia, left ductus arteriosus connecting subpulmonary arteries to the left innominate artery, and a right aortic arch with mirror image branching. The prenatal diagnosis and all ultrasound findings were confirmed by autopsy. Conclusions Tetralogy of Fallot (TOF) is a complex congenital anomaly with various branches of blood vessels. A set of standard views plus additional views (the upper chest coronal view) are required for prenatal diagnosis of complex TOF.

Correlation of Prenatal Ultrasound Diagnosis and Pathologic Findings in Fetal Anomalies

1999 ◽  
Vol 2 (2) ◽  
pp. 131-142 ◽  
Author(s):  
Chen-Chih J. Sun ◽  
Kathryn Grumbach ◽  
Donna T. DeCosta ◽  
Carol M. Meyers ◽  
Jeffrey S. Dungan
Keyword(s):  
Prenatal Diagnosis ◽  
False Positive ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Ultrasound ◽  
Complete Agreement ◽  
Fetal Anomalies ◽  
Autopsy Findings ◽  
Organ Systems ◽  
The Us

This retrospective study compared the prenatal ultrasound (US) diagnosis with autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other somatic organ systems (SOS). There were major differences between US and autopsy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlation was better for evaluation of renal anomalies (complete agreement in 63.6% of 11 suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected cases, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenatal diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. However, due to fragmentation of fetal parts, the US diagnosis in the CNS could not be confirmed totally (69.4%) or partially (2.8%) in fetuses with chromosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonetheless, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral renal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our results show that a thorough autopsy of an intact fetus after abortion is necessary to confirm prenatal diagnosis and allow proper management and counseling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anomalies.

The case of prenatal diagnosis of pilonidal cyst

2019 ◽  
Author(s):  
V.V. Ezhova
Keyword(s):  
Prenatal Diagnosis ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Pilonidal Cyst

The case of prenatal ultrasound diagnosis of pilonidal cyst at 25 weeks of gestation is presented. The diagnosis was confirmed after birth.

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

scholarly journals A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 142
Author(s):  
Anca Maria Panaitescu ◽  
Simona Duta ◽  
Nicolae Gica ◽  
Radu Botezatu ◽  
Florina Nedelea ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Facial Features ◽  
Genetic Condition ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Limb Reduction ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

Abnormal prenatal ultrasound findings in mevalonic aciduria

2008 ◽  
Vol 28 (3) ◽  
pp. 257-258 ◽  
Author(s):  
V. Schwarzer ◽  
D. Haas ◽  
G. F. Hoffmann ◽  
H. Meyberg ◽  
U. Gembruch
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Findings ◽  
Mevalonic Aciduria

Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne

2013 ◽  
Vol 97 (12) ◽  
pp. 806-811 ◽  
Author(s):  
Anne Debost-Legrand ◽  
Carole Goumy ◽  
Hélène Laurichesse-Delmas ◽  
Pierre Déchelotte ◽  
Anne-Marie Beaufrère ◽  
...  
Keyword(s):  
Congenital Malformations ◽  
Prenatal Ultrasound ◽  
Ultrasound Findings
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