Dr. Sangeeta

Dr. Sangeeta is a postgraduate from Maharaja Agrasen Hospital, New Delhi and also did her three years super specialty training (DNB, Medical Genetics) in Medical Genetics from Sir Ganga Ram Hospital, New Delhi. She has previously worked at Max Hospital, Saket. She is a recognized lecturer for online Genomics courses at University of South Wales, London.

During her training, she has dealt with a broad spectrum of patients with various Genetic concerns like high risk biochemical screen in pregnancy, congenital malformations on ultrasounds, recurrent pregnancy losses, children and adults with chromosomal, syndromic, single gene disorders and various inborn errors of metabolism. She did her thesis work on Outcome of pregnancies with increased nuchal translucency in first trimester. She has publications in International and National Journals of Medical Genetics and Fetal Medicine. She has done National courses in Biochemical Genetics and Molecular Genetics at CDFD, Hyderabad, Population Genetics at NIBMG, Kolkata.

Publications and presentations: Research articles/Papers/ presented at National International Conferences

Genetic disorders in children with hepatosplenomegaly. Medic Mentor 2016

Sengers syndrome in Asian Indians-two novel mutations and variant phenotype. Tranlational Science of Rare Diseases 2017

G9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys.

Journal of Fetal Medicine 2018

• Mutation- proved Clouston syndrome in a large Indian family with Variant phenotype. Indian Journal of Dermatology 2019
• Prenatal diagnosis for a novel missense mutation in X-linked intellectual disability gene followed by favorable pregnancy outcome. Journal of Fetal Medicine 2020
• Inborn Errors of Metabolism in Puberty 2021
• Outcome of fetuses with increased nuchal translucency >95th centile in Indian Patients Journal of Fetal Medicine (in press)

Presentations

1. To study the outcome of foetuses with increased nuchal translucency in first trimester. Annual congress of Society of Fetal Medicine 2016
2. Clinical profile of patients with 22q deletion syndrome

3^rd International Conference on birth defects 2016

3. The emergence of nuclear genes encoded mitochondrial  disorders in era of next generation sequencing

4^th Conference ISIEM 2017

4. To study the outcome of foetuses with increased nuchal translucency in first trimester-Extended study . International Congress of Society of fetal Medicine 2017
5. The impact of isolated increased NT on perinatal outcome:A prospective cohort study from an Indian tertiary care centre. Fertivision 2021

Areas of interest:

• Teaching
• Dysmorphology
• Inborn errors of metabolism
• Prenatal diagnosis
• Recurrent pregnancy losses
• Foetal autopsies
• Preimplantation genetic testing (PGT)

 Lifetime Membership of societies:

1. Indian Fertility society(IFS)
2. Federation of Obstetric and Gynecological Societies of India (FOGSI)
3. Society of Fetal Medicine (SFM)
4. Society of Indian Journal of Medical Genetics (SIAMG)
5. Indian Society of Inborn errors of Metabolism (ISIEM)

Other Accomplishments

• Awarded with 1^st prize winner on Oral paper presentation on “Diagnosis of X-linked mental retardation and prenatal diagnosis in pregnancy at risk” inCME and annual meeting on“optimizing in utero health” held at Post graduate institute medical research and education, Chandigarh, INDIA.
• Organising faculty of ART update 2019(National conference) in Shimla, INDIA
• Chairperson at“Panel discussion on Counselling of BRCA1 and BRCA2 mutation carriers” in Fertiprotect,2019 at Chandigarh.
• Faculty in “Genetics in Clinical practice” in 1^st Rare disease update at Mohali in August 2019, organized by State Health and Family welfare, Punjab, INDIA
• Faculty in “Puberty and Fertility in Turner syndrome” in Symposium on short stature organized at PGIMER, Chandigarh, INDIA
• Organizing Faculty on “Clinical Case scenarios in Genetics and PGT” in Fertivision 2020
• Received appreciation award as Organizing Faculty for Fertivision 2020 (International virtual conference) on 04-12-20 to 06-12-20
• Organizing Faculty at YUVA FOGSI-2021
• Recognized Lecturer for Genomic courses at Learna online teaching Institute, University of South Wales, UK since March 2021.
• Chairperson for “Genetics of endometriosis” at National conference, Fertivision 2021 conducted on 10-12-2021.
• Faculty as one of the main panelist in “Genes and genetics in reproductive medicine” a webinar affiliated through Indian fertility society, Punjab chapter conducted on 07-01-2022
• Certified editorial board member of “International journal of Genetics and genomics”