Lymphatic Malformation Type 6 in Three Consecutive Pregnancies: A Rare Cause of Non-Immune Hydrops

Science Press Release Distribution Services

Lymphatic Malformation Type 6 in Three Consecutive Pregnancies: A Rare Cause of Non-Immune Hydrops

May 3, 2021 Medical Science 0

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Case Study: We present an unpublished case of a 23-year-old woman who was married non-consanguineously and had hydrops fetalis in three consecutive pregnancies due to lymphatic malformation 6.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

View Book :- https://stm.bookpi.org/RTCMS-V10/article/view/704

 

Leave a Reply

Your email address will not be published. Required fields are marked *