Related Experiment Video
Updated: Aug 15, 2026
Efficient Differentiation of Mouse Embryonic Stem Cells into Motor Neurons
Published on: June 9, 2012
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy
Philippe Burlet1, Nelly Frydman, Nadine Gigarel
1Département de Génétique, U393, Hôpital Necker Enfants Malades, Paris, France.
Objective:
To develop and validate a simple and reliable single-cell analysis protocol for the preimplantation genetic diagnosis (PGD) of spinal muscular atrophy (SMA).
Design:
Molecular tests based on specific enzymatic digestion have already been described for SMA diagnosis. We modified the amplified DNA fragments so as to introduce a novel restriction site that provides an internal control for the completeness of the digestion.
Setting:
The genetics and reproduction departments of two teaching hospitals.
Patient(S):
Six informed couples at risk of transmitting SMA.
Intervention(S):
All patients underwent standard procedures associated with intracytoplasmic sperm injection.
Main Outcome Measure(S):
Improvement of SMA diagnostic efficiency and accuracy on single cell.
Result(S):
One hundred fifty lymphocytes were analyzed with our protocol. One hundred percent diagnostic accuracy was achieved from both homozygous normal and SMN1-deleted leukocytes. Successful molecular analysis was achieved for 36 of 42 biopsied embryos (86%). Twenty-five normal embryos were transferred, but no pregnancy was achieved.
Conclusion(S):
We developed an improved protocol for PGD of SMA that is simple, robust, and accurate; unfortunately, no pregnancies were achieved for any of the six patients who have undergone PGD in the program thus far.
