scholarly journals VP16.06: Prenatal diagnosis of FATCO syndrome: report of three cases – ultrasound findings, differential diagnoses and treatment

2021 ◽  
Vol 58 (S1) ◽  
pp. 164-165
Author(s):  
P. Mangupli ◽  
J.H. Ochoa
Keyword(s):  
Prenatal Diagnosis ◽  
Differential Diagnoses ◽  
Ultrasound Findings ◽  
Syndrome Report

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.

scholarly journals How does Fetal Autopsy after Pregnancy Loss or Termination for Anomalies and other Complications Change Recurrence Risk?

2019 ◽  
Vol 09 (01) ◽  
pp. e30-e35
Author(s):  
Arianna Cassidy ◽  
Claire Herrick ◽  
Mary Norton ◽  
Philip Ursell ◽  
Juan Vargas ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
San Francisco ◽  
Pregnancy Loss ◽  
Retrospective Chart Review ◽  
Recurrence Risk ◽  
Fetal Autopsy ◽  
Risk Of Recurrence ◽  
Ultrasound Findings ◽  
Before And After ◽  
Autopsy Diagnosis

Objective Historically, fetal autopsy was common after terminations for anomalies. Previous studies report that fetal autopsy confirms ultrasound findings in the majority of cases. This study aims to examine correlation between prenatal and autopsy diagnoses at University of California, San Francisco (UCSF) and evaluate whether autopsy adds diagnostic information, specifically information that changes risk of recurrence for future pregnancies. Study Design We conducted a retrospective chart review of all fetal autopsies performed at UCSF between 1994 and 2009. Prenatal diagnosis was compared with autopsy diagnosis; for cases where there was a change in diagnosis, an MFM (maternal-fetal medicine specialist) reviewed the case to assign risk of recurrence before and after autopsy. Results Overall, there was concordance between prenatal diagnosis and autopsy diagnosis in greater than 91.7% of cases. Autopsy added information that resulted in a change in recurrence risk in 2.3% of cases (n = 9). Conclusion For the vast majority of cases, there is agreement between prenatal and autopsy diagnosis after pregnancy loss or termination for fetal anomalies. Only a small percentage of autopsies change recurrence risk. This may be useful when counseling women about method of termination and when counseling couples about whether to have an autopsy.

scholarly journals Diastrophic dysplasia: prenatal diagnosis and review of the literature

2013 ◽  
Vol 131 (2) ◽  
pp. 127-132 ◽  
Author(s):  
Jonathan Celli Honório ◽  
Rafael Frederico Bruns ◽  
Luciana Fernandes Gründtner ◽  
Salmo Raskin ◽  
Lilian Pereira Ferrari ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Homozygous Mutation ◽  
Upper Limbs ◽  
Sulfate Transporter ◽  
Chain Reaction ◽  
Realistic Interpretation ◽  
Diastrophic Dysplasia ◽  
Ultrasound Findings ◽  
Polymerase Chain

CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions) and mesomelia (shortening of the intermediate portions). Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR) and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.

Prenatal diagnosis of 5p deletion syndrome: Report of five cases

2019 ◽  
Vol 45 (4) ◽  
pp. 923-926 ◽  
Author(s):  
Annisa S. L. Mak ◽  
Teresa W. L. Ma ◽  
Kelvin Y. K. Chan ◽  
Anita S. Y. Kan ◽  
Mary H. Y. Tang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Deletion Syndrome ◽  
5P Deletion ◽  
Syndrome Report

scholarly journals Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Burcu Artunc Ulkumen ◽  
Halil Gursoy Pala ◽  
Nalan Nese ◽  
Serdar Tarhan ◽  
Yesim Baytur
Keyword(s):  
Prenatal Diagnosis ◽  
Airway Obstruction ◽  
Relevant Literature ◽  
Fetal Mri ◽  
Review Of The Literature ◽  
Management Options ◽  
Upper Airways ◽  
Antenatal Ultrasonography ◽  
Syndrome Report

Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options.

Prenatal diagnosis of trisomy 8 mosaicism in cvs after abnormal ultrasound findings at 12 weeks

1995 ◽  
Vol 15 (8) ◽  
pp. 769-772 ◽  
Author(s):  
A. Guichet ◽  
S. Briault ◽  
A. Toutain ◽  
C. Paillet ◽  
P. Descamps ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 8 ◽  
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.

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