Case Description :

Mrs. BS, a 24-year-old lady visited Xenith Advanced Fertility centre, in 2019 for a special medical condition. They had a child diagnosed with a metabolic disorder called Mucopolysaccharidosis type VI, who passed away battling the metabolic disorder. She also had two neonatal death because of the same cause.

The couple was later tested to be carriers of the gene responsible for this mutation. They had undergone genetic counselling.

What is Mucopolysaccharidosis VI?

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.

 

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Exploring the possibilities:

Dr. Mamta Dighe, IVF & Fertility Specialist at Xenith expertly counselled the couple about the solutions they can explore. Preimplantation genetic screening or change in gametes were suggested .

What We Did :

A general detailed work up including blood investigation and ultrasound monitoring of endometrium was done. Endometrium appeared to be suboptimal and so was advised hysteroscopy. Meanwhile, the couple chose the option of donor gametes. The patient underwent hysteroscopy to evaluate the uterine cavity before planning embryo transfer, where minor corrections were done. This prepared the uterus to receive the embryo.

After hysteroscopy, her endometrium was prepared and two  blastocyst embryos prepared after using appropriate donor gamete were transferred.  

The patient conceived and had an uneventful pregnancy. She delivered a healthy full term baby.

The couple was extremely grateful to Dr. Mamta Dighe and the entire Xenith team for helping them complete their family. We are glad to have gotten the chance to ease their pain by giving them another shot at joy.

Never lose hope in the face of adversity.

Your second chance at happiness is out there.

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