Mustaque Ahmed, Huque Mahfuz, Mohammed Mosleh Uddin, Md. Mostafil Karim
Prenatal diagnosis (PND) is done to detect thalassaemia at 9th to 10th week of foetus. It is done by chorionic villus sampling by amniocentesis. PCR amplifies DNA. Termination of pregnancy is done if mutation is found. In one centre in India around 60% foetus was found affected.
Preimplantation genetic diagnosis (PGD) is an appealing alternative as the disease-free embryos are detected before pregnancy and thus the rather destructive PND could be avoided.
PGD involves IVF (in vitro fertilization) where multiple embryos are formed at a time by superovulation and one single sperm is injected in each egg after collecting the eggs trans vaginally. In one study healthy embryos were detected in 7 couple out of 7 and 3 healthy babies were delivered after embryo transfer. PGD is done by doing biopsy from tropho-ectoderm of blastocyst and whole genome sequencing of the biopsy tissue. HLA matching of the embryos with previous affected sibling may result in delivery of HLA matched baby and the umbilical cord blood or bone marrow of the new baby is a cure for the affected older sibling. Sometimes a second IVF cycle is needed if both disease free and HLA matched embryo is not found in the first attempt. As Bangladesh has got many IVF centres now and BMT (bone marrow transplantation) is done successfully this PGD and HLA typing facility is a possibility now here in the country.
Correspondence: Mustaque Ahmed, Scientific director, Harvest infertility care, House 100, Road 6, Block -B, Section 12, Mirpur, Dhaka. Email: [email protected]