Lymphatic Malformation Type 6 in Three Consecutive Pregnancies: A Rare Cause of Non-Immune Hydrops
DOI:
https://doi.org/10.9734/bpi/rtcms/v10/1764FKeywords:
Lymphatic malformation type 6, hydrops fetalis, PIEZO1 gene mutation, Sanger sequencing, Sanger validationAbstract
Background: Lymphatic malformation- 6 is a type of generalized lymphatic dysplasia or GLD, it is considered as a uniform and widespread lymphedema which affect the whole body along with the pulmonary and intestinal lymphangiectasia, pericardial or chylothoraces effusion, and pleural effusion. It is known for having a high incidence of non-immune hydrops fetalis with either death or complete revolution of the neonatal edema.
Case Study: We are presenting a unique unpublished case of a 23 years old lady, who was married non- consanguineously and had hydrops fetalis in 3 consecutive pregnancies due to lymphatic malformation 6, in this case on Sanger sequencing of the fetus frameshift mutation in 39 exon of PIEZO1 gene was seen, where 2 base pairs were deleted. On additional member testing, we found both the parents as an asymptomatic heterozygous carrier of this pathogenic variation.
Conclusion: In the present case study we conclude that as a result of dorsal invasive prenatal testing (CVS-13 weeks gestation) and mutation analysis both the parents were carriers of this autosomal recessive disorder and there were 25% chances of recurrence of this mutation, hence genetic counselling was recommended.
