Background information: Lymphatic malformation-6 is a type of generalised lymphatic dysplasia (GLD) that causes uniform and widespread lymphedema, as well as pulmonary and intestinal lymphangiectasia, pericardial or chylothoraces effusion, and pleural effusion. It's notorious for having a high rate of non-immune hydrops fetalis, which can lead to death or full edoema revolution in the newborn.
Case Study: We present an unpublished case of a 23-year-old woman who was
married non-consanguineously and had hydrops fetalis in three consecutive
pregnancies due to lymphatic malformation 6. On Sanger sequencing of the
foetus, a frameshift mutation in the 39 exon of the PIEZO1 gene was discovered,
with two base pairs removed. We discovered that both parents were asymptomatic
heterozygous carriers of this pathogenic variation after additional member
research.
Conclusion: Based on the results of dorsal intrusive prenatal testing (CVS-13
weeks gestation) and mutation review, both parents were carriers of this
autosomal recessive condition, with a 25% risk of recurrence, genetic
counselling was suggested.
Author (s) Details
Anupama Sharma
Department of Chemistry,
Jaypee University, Anoopshahr, U.P, India
Girish Chandra Sharma
Department of Chemistry, Jaypee University, Anoopshahr, U.P, India
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Book :- https://stm.bookpi.org/RTCMS-V10/article/view/704
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