Fetal And Genetic Clinic

07/08/2024

Differentiating Rocker bottom feet from Club foot
Genetic testing can help save lives. For further quires please contact
Dr Ashutosh Foetal & Genetic Clinic; E 874, Chittaranjan Park, New Delhi 110019
Dr Ashutosh Gupta; DM – Medical Genetics (SGPGIMS); Medical Geneticist
Mail – dr_ashutosh75@rediffmail.com; Contact - 9953728760

07/08/2024

Syndactyly - Fused fingers in fetus - Often Missed
Genetic testing can help save lives. For further quires please contact
Dr Ashutosh Foetal & Genetic Clinic; E 874, Chittaranjan Park, New Delhi 110019
Dr Ashutosh Gupta; DM – Medical Genetics (SGPGIMS); Medical Geneticist
Mail – dr_ashutosh75@rediffmail.com; Contact - 9953728760

02/08/2024

Nuchal Translucency in Fetus - Transient
Genetic testing can help save lives. For further quires please contact
Dr Ashutosh Foetal & Genetic Clinic; E 874, Chittaranjan Park, New Delhi 110019
Dr Ashutosh Gupta; DM – Medical Genetics (SGPGIMS); Medical Geneticist
Mail – dr_ashutosh75@rediffmail.com; Contact - 9953728760

10/07/2024

08/07/2024

05/07/2024

Duchenne muscular dystrophy and treatment
• DMD is a life-threatening neuromuscular disease.
• Mutation in the dystrophin gene on the X chromosome.
• Severe and progressive muscle destruction.
• Global prevalence is 7.1 cases per 100,000 men
• DMD gene is one of the largest genes.
• Mutations in the dystrophin gene disrupt the reading frame.
• Dystrophin is localized below the sarcolemma and is found in heart, smooth and skeletal muscle.
• Average dystrophin level in DMD patients’ is 1.3%, ranging from 0.7- 7%; BMD muscle is 33%
ranging from 10-90%.
• When dystrophin protein translation is prematurely interrupted, its critical function is lost.
• Exon skipping modifies the out-of-frame mutation into an in-frame mutation.
• As a result; DMD boy gets converted into a less severe in-frame BMD.
• Preservation of reading frame allow for the production of partially functional dystrophin.
• BMD is milder than DMD; associated with a later onset of symptoms and slower disease
progression.
• Dystrophin gene has a high mutation rate; one-third of changes arise de novo.
• Large deletions (68%), duplications (10%), and small variants (nonsense, missense, deletion,
insertion, and splicing variants) (22%) are the most common types of mutations in the DMD gene.
• Antisense oligonucleotides (AONs) achieve exon skipping.
• Goal is to restore the reading frame to allow DMD patients to make a BMD-like protein.
• Exon skipping is a mutation-specific approach.
• Casimersen, an exon 45 skipping molecule, intravenous infusion drug that binds to exon 45 of the
dystrophin gene pre-mRNA and causes this exon to be skipped during mRNA processing. This
allows patients to produce an internally shortened but functional dystrophin protein
• The current exon skipping therapies have the potential to benefit 30% of patients.
Genetic testing can help save lives. For further quires please contact
Dr Ashutosh Foetal & Genetic Clinic; E 874, Chittaranjan Park, New Delhi 110019
Dr Ashutosh Gupta; DM – Medical Genetics (SGPGIMS); Medical Geneticist
Mail – dr_ashutosh75@rediffmail.com; Contact - 9953728760

04/07/2024

Duchenne/Becker muscular dystrophies (DMD/BMD)
• DMD / BMD are lethal disorders caused by mutations in the dystrophin gene.
• DMD is a common paediatric neuromuscular disorder affecting 1/3500 live male births, while BMD
is milder and less frequent.
• The diseases are manifested with muscular weakness, hypertrophy of the calf muscles, positive
Gower's sign and Pradhan's valley sign.
• X-linked recessive is the mode of inheritance; males carrying the mutated gene are affected, while
females become carriers.
• Diagnosis is usually based on clinical, pathological and biochemical findings and now it is
increasingly being confirmed by molecular and genetic analysis.
• If the mother of an affected boy, has another affected brother or any male relative, she becomes an
obligate carrier.
• The identification of female carriers of deletions/duplications of the DMD gene is a crucial point to
prevent the birth of children affected by DMD or BMD.
• Theoretically; 30 per cent of the DMD mutations are de novo.
• DMD has sequence change in 20-35%; deletion/duplication in 65-80%
• MLPA assay has been suggested as the first screening test for clinically suspected DMD/BMD
patients as well as for women who have a DMD/BMD family history.
• If a woman has more than one affected child and no other affected relatives and if the DMD
pathogenic variant cannot be detected in her leukocyte DNA, she most likely has germline
mosaicism.
• The likelihood of germline mosaicism for a DMD pathogenic variant in this instance is 15%-20%.
Genetic testing can help save lives. For further quires please contact
Dr Ashutosh Foetal & Genetic Clinic; E 874, Chittaranjan Park, New Delhi 110019
Dr Ashutosh Gupta; DM – Medical Genetics (SGPGIMS); Medical Geneticist
Mail – dr_ashutosh75@rediffmail.com; Contact - 9953728760

26/04/2023

Antenatal Loss of CorticoMedullary differentiation in Kidneys & Predicting Postnatal Outcome