scholarly journals Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

2020 ◽  
Vol 383 (18) ◽  
pp. 1746-1756
Author(s):  
Teresa N. Sparks ◽  
Billie R. Lianoglou ◽  
Rebecca R. Adami ◽  
Ilina D. Pluym ◽  
Kerry Holliman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Hydrops Fetalis ◽  
Nonimmune Hydrops

scholarly journals Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

2021 ◽  
Vol 41 (2) ◽  
pp. 91-92
Author(s):  
T.N. Sparks ◽  
B.R. Lianoglou ◽  
R.R. Adami ◽  
I.D. Pluym ◽  
K. Holliman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Hydrops Fetalis ◽  
Nonimmune Hydrops

scholarly journals Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

2021 ◽  
Vol 76 (3) ◽  
pp. 139-141
Author(s):  
Teresa N. Sparks ◽  
Billie R. Lianoglou ◽  
Rebecca R. Adami ◽  
Ilina D. Pluym ◽  
Kerry Holliman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Hydrops Fetalis ◽  
Nonimmune Hydrops

scholarly journals OP28.06: Prenatal diagnosis of nonimmune hydrops fetalis: what do we tell the parents?

2010 ◽  
Vol 36 (S1) ◽  
pp. 135-135
Author(s):  
S. F. Santo ◽  
T. D. Dias ◽  
S. Mansour ◽  
T. Homfray ◽  
S. Calvert ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hydrops Fetalis ◽  
Nonimmune Hydrops

scholarly journals Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis

2021 ◽  
Vol 12 ◽  
Author(s):  
Yuan Chen ◽  
Ying Jiang ◽  
Bangwu Chen ◽  
Yeqing Qian ◽  
Jiao Liu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Mutations ◽  
Hydrops Fetalis ◽  
Compound Heterozygous ◽  
Whole Exome ◽  
Lymphatic Dysplasia ◽  
Positive Effect ◽  
Nonimmune Hydrops ◽  
Compound Heterozygous State

Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF remains a challenge which is essential to address for prenatal counseling. We extracted DNA from a proband prenatally diagnosed unexplained NIHF. Trio-whole exome sequencing (WES) was performed to filter candidate causative variants. Two gene mutations were identified as a compound heterozygous state in the proband. Both variants located on the PIEZO1 gene: c.3895C > T, a missense mutation in exon 27 paternally inherited; c.4030_4032del, a maternally inherited in-frame deletion in exon 28. Both variants were first reported to be related to NIHF. PIEZO1 gene mutations, leading to an autosomal recessive congenital lymphatic dysplasia, which can present as NIHF and partial or complete resolution postnatally. In conclusion, WES can aid in the elucidation of the genetic cause of NIHF and has a positive effect on the assessment of prognosis.

Utility of Fetal Whole Exome Sequencing in the Etiological Evaluation and Outcome of Nonimmune Hydrops Fetalis

2021 ◽  
Author(s):  
Alec Reginald Errol Correa ◽  
Kamal Naini ◽  
Pallavi Mishra ◽  
Vatsla Dadhwal ◽  
Ramesh Agarwal ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Hydrops Fetalis ◽  
Whole Exome ◽  
Nonimmune Hydrops
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