scholarly journals Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome

2019 ◽  
Vol 10 ◽  
Author(s):  
Shuyuan Li ◽  
Xu Han ◽  
Mujin Ye ◽  
Songchang Chen ◽  
Yinghua Shen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnancy Outcome ◽  
Chromosome 22Q11.2 ◽  
Ultrasound Findings

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.

scholarly journals Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies

PLoS ONE ◽  
2016 ◽  
Vol 11 (12) ◽  
pp. e0166909 ◽  
Author(s):  
Myrthe Jacobs ◽  
Sally-Ann Cooper ◽  
Ruth McGowan ◽  
Scott M. Nelson ◽  
Jill P. Pell
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnancy Outcome ◽  
Record Linkage ◽  
Linkage Study ◽  
Chromosomal Anomaly

scholarly journals Prenatal diagnosis of low-level mosaicism for trisomy 2 associated with a favorable pregnancy outcome

2016 ◽  
Vol 55 (2) ◽  
pp. 303-304 ◽  
Author(s):  
Chih-Ping Chen ◽  
Tsang-Ming Ko ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Yen-Ni Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnancy Outcome ◽  
Low Level

Prenatal diagnosis of right aortic arch: associated findings, pregnancy outcome, and clinical significance of vascular rings

2009 ◽  
Vol 29 (10) ◽  
pp. 975-981 ◽  
Author(s):  
A. Galindo ◽  
O. Nieto ◽  
M. T. Nieto ◽  
M. O. Rodríguez-Martín ◽  
I. Herraiz ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
Pregnancy Outcome ◽  
Clinical Significance ◽  
Right Aortic Arch ◽  
Vascular Rings
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