Dr. Ashutosh Halder
Department of Reproductive Biology
All India Institute of Medical Sciences, New delhi
Dr. Ashutosh Halder Specialization
Additional Professor Reproductive Genetics
email@example.com Molecular Cytogenetics
MBBS (Cal), MD (OG, AIIMS), DNB (OG), Reproductive Endocrinology
DM (Med Genet, SGPGI), FAMS Clinical Embryology
Commonwealth Scholar (Fetal Medicine) Teratology
(Ex Asst. Prof., Med Genet, SGPGIMS, Lucknow) Publications
Citations (google scholar)
Teaching Courses Guided
PhD (January & July sessions, AIIMS; since 2001)
DM (Med Genet, SGPGI; up to 2001)
Long Term: Molecular Cytogenetics, Clinical Embryology, Reproductive Endocrinology, etc
National Workshop: One Week Workshop on Molecular Cytogenetics as Annual Event
Clinical/Laboratory Services Provided
Andrology (Primary Testicular failure)
1. Recurrent Pregnancy Failure (preferably 5 or more recurrent abortions/fetal deaths)
2. Recurrent Malformations (preferably 2 or more affected family)
3. Disorder of sex development (preferably 2 or more affected family)
4. Reproductive Endocrine Disorders viz., PCOS, Primary Amenorrhoea, Premature Ovarian Failure, Hyperprolactinemia, etc (preferably 2 or more affected family)
5. Endometriosis (preferably 2 or more affected family)
6. Hydatidiform Mole/Gestational Trophoblastic Tumor (preferably 2 or more recurrent; 2 or more family member affected)
7. Familial Reproductive Cancers Breast, Ovary, Uterine, Testes, Prostate, (3 or more affected family)
1. Analysis for sperm aneuploidy of idiopathic oligoazoospermic & teratospermic men
2. Evaluation of molecular basis of clinical aggressiveness in cervical carcinoma of young age
3. Molecular basis of clinical aggressiveness in papillary thyroid carcinoma
4. Role of Cytokines in Premature Ovarian Failure (collaborative)
5. Double blind randomized clinical trial of polyherbal preparation Ashokarista on post- menopausal women (collaborative)
6. Evaluation of anembryonic pregnancy and early missed abortion product for chromosomal aneuploidy and uniparental disomy by molecular method
7. Chromosome aneuploidy and mosaicism in preimplantation embryo (human)
8. Chromosome aneuploidy and mosaicism in preimplantation embryo (mouse)
9. Prevalence of 22q11 deletion syndrome in children with structural cardiac malformation: a tertiary care referral hospital-based study in Delhi
10. Molecular Basis of Multiple Myeloma (collaborative)
11. Rapid Aneuploidy Diagnosis by PRINS
12. Spermiation Defect
13. Genetic & Endocrine Evaluation of Primary Testicular Failure
1. An investigation for sub-microscopic chromosomal imbalances and uniparental disomy by array comparative genomic hybridization (aCGH) in FISH negative clinically suspected 22q11.2 microdeletion syndromes
2. Understanding Dynamics of Skewed Sex Ratio
3. An Investigation to find out mechanism for Phenotypic Heterogeneity/Variability in Microdeletion Syndrome
4. Genomics of Primary Testicular Failure
To develop reproductive genetics, reproductive endocrinology & reproductive onco-genetics
To develop semen cryopreservation (semen banking & AID) facility
To develop gamete, embryo & gonad cryopreservation facility
To develop biobank and Reproductive Genetic Registry for future research
To develop clinical embryology
To start courses (teaching/training) on Molecular Cytogenetics, Reproductive Genetics, Clinical Embryology, Cryopreservation, etc
Published Full Article
1. Haldar A, Sharma AK, Agarwal SS, et al. OEIS Complex with Cranio-Facial anomalies: Defect of Blastogenesis? Am. J. Med. Genetics. 1994; 53: 21-23.
2. Sharma AK, Haldar A, et al. Postmortem Radiography of perinatal deaths: an aid to Genetic Counseling. Indian Pediatrics. 1994; 31(6): 702-706.
3. Phadke SR, Haldhar A, et al. GAPO Syndrome in a child without Dermal Hyaline Deposit. Am. J. Med. Genetics. 1994; 51: 191-193.
4. Sharma AK, Haldar A, et al. Preaxial Brachydactyly with Abduction of Thumbs & Hallux Varus: a distinct entity. Am. J. Med. Genetics. 1994; 49(3): 274-277.
5. Sharma AK, Phadke SR, Haldar A, et al. Jercolevine Syndrome: a case report. Indian Pediatrics. 1994; 31(6): 707-708.
6. Sharma AK, Haldar A, et al. Marshall-Smith Syndrome: further observations. Indian Pediatrics. 1994; 31(8): 1098-1100.
7. Buckshee K, Haldar A, et al. Bioeffects of Diagnostic Ultrasound in Newborn. J. Obst. & Gynecol India. 1994; 44(1): 859-862.
8. Tutschek B, Sherlock J, Halder A, Delhanty J, Rodeck C, Adinolfi M. Isolation of Fetal Cells from transcervical samples by Micromanipulation: Molecular confirmation of their fetal origin and diagnosis of fetal aneuploidies. Prenatal Diagnosis. 1995; 15(10): 951-960.
9. Adinolfi M, Sherlock J, Tutschek B, Halder A, Delhanty J, Rodeck C. Detection of Fetal Cells in Transcervical Sample & Prenatal Diagnosis of Chromosomal abnormalities. Prenatal Diagnosis. 1995; 15(10): 943-950.
10. Agarwal S, Kishore R, Haldar A, et al. Outcome of pregnancy in women with Recurrent Spontaneous Abortion following Immunotherapy with Allogenic Lymphocytes. Human Reproduction. 1995; 10(9): 2280-2284.
11. Kishore R, Agarwal S, Haldar A, et al. HLA sharing, Antipaternal Cytotoxic Antibodies & MLR Blocking Factors in women with Recurrent Abortions. J. Obstet. Gynaecol. Res. 1996; 22(2): 177-183.
12. Sherlock J, Halder A, Tutschek B, Rodeck C, Adinolfi M. Prenatal detection of fetal aneuploidies using transcervical cell samples. J Med Genet. 1997; 34: 302-305.
13. Halder A & Tutschek B. Analysis of meiotic segregation in human nondecondensed interphase spermatozoa by multicolor rapid direct FISH. Ind J Med Res. 1998; 107: 94-97.
14. Ruangvutilert P, Halder A, Jauniaux E, Arienzo M, Cirigliano V and Sherlock J. A minimally invasive prenatal diagnosis technique for the collection of transcervical cells. Prenatal Neonatal Medicine 1998; 3: 294 - 296.
15. Halder A, Pahi J, Pradhan M, Pandey A, Gujral R, Agarwal SS. Iniencephaly: a report of 19 cases. Ind Pediatrics. 1998; 35: 891 - 896.
16. Halder A, Pahi J, Sharma AK, Bhatia VL, Phadke RV, Gujral R & Agarwal SS. Osteodysplastic Primordial Dwarfism Type II with normal Mentation and delayed CNS Myelination. Am. J. Med. Genet. 1998; 80: 12-15.
17. Pahi J, Phadke SR, Halder A, Agarwal SS, et al. Does autopsy of antenataly diagnosed malformed fetuses aid genetic counseling? The National Medical Journal of India. 1998; 11(4): 120-121.
18. Jauniaux E, Halder A, Partington C. A case of partial mole associated with trisomy 13. Ultrasound Obstet Gynaecol. 1998; 11(1): 62-64.
19. Halder A & Park YK. Identification of the appropriate tissue from formalin fixed perinatal autopsy material for chromosomal ploidy detection by interphase FISH. Ind J Med Res. 1999; 110: 102-106.
20. Phadke SR & Halder A. Fluorescent in situ hybridization: A novel method to study chromosomes and genes. Perinatology 2000; 2(4): 203-210.
21. Halder A, Pahi J, Chadda V and Agarwal SS. Sirenomelia Sequence associated with craniorachischisis totalis, limb reduction and primitive heart: a case report. Indian Pediatr. 2001; 38 (9): 1041-5.
22. Halder A. Trisomy 21 beyond 1st trimester: are they all mosaic? Evidence to support. Asian J Obs & Gynae Practice, 2002; 6 (2): 30-34.
23. Halder A, Agarwal S & Chaddha V. Genetic counseling in obstetric practice. Obstetrics & Gynecology Today 2002; VII (6): 310-318 (invited review).
24. Chaddha V, Agarwal S, Phadke SR & Halder A (corresponding author). Low Level of Mosaicism in Atypical Prader Willi Syndrome: Detection using Fluorescent In Situ Hybridization. Indian Pediatrics 2003; 40: 166-168.
25. Agarwal S, Chadda V, Ram Sharan and Halder A (corresponding author). Rapid prenatal diagnosis of trisomy 18 by interphase FISH. Asian Journal of Obs & Gynae Practice 2003; 7 (1): 14–15 & 23.
26. Pandey MK, Halder A, Agarwal S, Srivastava M, Agarwal SS, Agrawal S. Immunotherapy in Recurrent Spontaneous Abortion: Randomised and Nonrandomised trials. The Internet Journal of Gynaecology and Obstetrics 2003; 2(1): rsa/xml (13 pages).
27. Halder A, Panigrahi I & Pal L. Fowler like syndrome with extreme oligohydramnios & growth restriction and without muscle hypoplasia: first case from Indian subcontinent. Ind Pediat 2003; 40: 418-423.
28. Halder A, Chaddha V, Agarwal S, Fauzdar A. Absence of sperm meiotic segregation error of chromosomes 1, 9, 12, 13, 16, 18, 21, X and Y in a case of 100 % necrozoospermia. Asian J Androl. 2003 Jun; 5(2): 163-166.
29. Nagpure NS, Kushwaha B, Srivastava SK, Halder A and Ponniah AG. Comparative chromosome painting in fish using human sex chromosome probes. Indian J Fishery 2003; 50: 103-106.
30. Halder A, Halder S, Fauzdar A, Kumar A. Molecular approaches of chromosome analysis: an overview. Proc. Indian Nat. Sci. Acad. 2004; B70 (2): 153-221. Invited review
31. Halder A, Agarwal S, Pandey A. Iniencephaly and Chromosome Mosaicism: A Report of Two Cases. Congenital Anomalies 2005; 45: 102-105.
32. Halder A, Fauzdar A, Kumar A. Serum Inhibin B and Follicle Stimulating Hormone Levels as Markers in the Evaluation of Azoospermic Men: A Comparison. Andrologia 2005; 37: 173-179.
33. Halder A, Fauzdar A, Kabra M and Saxena A. Detection of 22q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH22 Syndrome. Ind Pediatr. 2005; 42: 1236-1239.
34. Halder A, Halder S, Fauzdar A. A Preliminary Investigation on Molecular Basis for Clinical Aggressiveness in Cervical Carcinoma by Comparative Genomic Hybridization and Conventional Fluorescent In-situ Hybridization. Indian J of Med Res. 2005; 122: 434-446.
35. Halder A. Placental chimerism in early human pregnancy. Indian J of Human Genetics 2005; 11 (2): 84-88.
36. Halder A and Fauzdar A. Extreme Skewing of Sex Ratio and Low Aneuploidy in Recurrent Early Missed Abortion. Ind J Med Res 2006; 124: 41-50.
37. Halder A. Skewed Sex Ratio in India. Indian Journal of medical Research. 2006; 124: 583-584.
38. Halder A, Fauzdar A. Potential use of blood, buccal and urine cells for rapid noninvasive diagnosis of suspected aneuploidy using FISH. Journal of Clinical & Diagnostic Research. 2007; 1 (2): 32-38.
39. Halder A, Fauzdar A, Ghosh M, Kumar A. Serum Inhibin B: A Direct, Precise & Noninvasive Marker of Ovarian Function. Journal of Clinical & Diagnostic Research. 2007; 1(3): 131-137.
40. Halder A. Nonimmunologic Hydrops Fetalis Associated with True Knot of Umbilical Cord: A Necropsy Study. J Turkish German Gynecol Assoc. 2007; 8(4): 420-423.
41. Halder A. Unexplained Ten Consequetive Early Third Trimester Intrauterine Fetal Deaths: A Diagnostic Dilema. The Internet Journal of Gynecology and Obstetrics. 2007; Volume 7, Number 2. (IUD_0910.doc)
42. Halder A. Premature Graying of Hairs, Premature Aging and Predisposition to Cancer in Jajjal, Punjab: A preliminary observation. Journal of Clinical & Diagnostic Research 2007; 6: 577-580.
43. Halder A, Gupta RK. Male like external genitalia with epididymis in a case of 46,XX disorder of sex development due to congenital adrenal hyperplasia. Journal of Research in Medical Sciences 2008; 13(3): 141-145.
44. Halder A, Jain M, Kabra M, Gupta N. 22q11.2 Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases. Molecular Cytogenetics 2008; 1: 18.
45. Fauzdar A, Sharma RK, Kumar A, Halder A. A Preliminary Study on Chromosome Aneuploidy and Mosaicism in Early Preimplantation Human Embryo by Fluorescence In Situ Hybridization. IJMR 2008; 128 (3): 287-293
46. Fauzdar A, Halder A, Kumar A. Effect of gonadotropins on chromosome aneuploidy, chromosome mosaicism and skewed sex ratio in mouse preimplantation embryos. IJMR 2009; 129: 669-675
47. Yadav N, Sumod K, Kumar S, Jain M, Halder A, Saxena R, Mukhopadhyay A. Therapeutic effect of bone marrow-derived liver cells in phenotypic correction of murine hemophilia A. Blood; 2009 114: 4552-4561
48. Shukla B, Agarwal S, Suri V, Pathak P, Sharma MC, Gupta D, Sharma BS, Suri A, Halder A, Sarkar C. Assessment of 1p/19q status by fluorescence in situ hybridization assay: A comparative study in oligodendroglial, mixed oligoastrocytic and astrocytic tumors. Neurol India 2009; 57: 559-566.
49. Halder A. Amniotic Band Syndrome and/or Limb Body Wall Complex: Split or Lump. The Application of Clinical Genetics 2010; 3: 7-15.
50. Halder A. 46, XY Disorder of Sex Development with Mullerian Ducts Remnants. JCDR 2010; 4: 2169-2174.
51. Halder A, Jain M, Chaudhary I, Kabra M. Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India. BMC Medical Genetics 2010; 11: 101.
52. Halder A, Jain M, Chaudhary I and Varma B. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Molecular Cytogenetics 2012; 5:13.
53. Jain M, Halder A. Sertoli cell only syndrome: Status of sertoli cell maturation and function. Indian J Endocr Metab 2012; 16: S514-515.
54. Halder A, Jain M, Chawdhary I, Kumar G, Das TK, Gupta YK. Dark Colored Semen in Non-obstructive Azoospermia: A Report of 4 Cases, Andrologia 2013 Feb 28. doi: 10.1111/and.12078
55. Halder A, Jain M and Chaudhary I. Rapid Detection of Chromosome X, Y, 13, 18 & 21 Aneuploidies by Primed In Situ Labeling/Synthesis (PRINS) Technique. Ind J Hum Genet 2013 (2013 in press; ref no. IJHG_51_12)
56. Jain M, Mohan V, Chaudhary I, Halder A. Sertoli cell only syndrome and glaucoma in a SRY positive XX infertile male. JCDR 2013 (2013 in press; Manuscript ID 5186)
57. Halder A, Jain M, Chaudhary I, Gupta N and Kabra M. Fluorescence in-situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes: an experience with 301 cases. IJMR 2013 (accepted for June 2013 Issue; ref no. IJMR_135_12)
Published Abstract (Indexed Only)
1. Detection & analysis of fetal cells in TCC using FISH & PCR amplification of unique fetal DNA sequences. Delhanty JDA, Sherlock J, Tutschek B, Halder A, Rodeck CH, Adinolfi M. Am. J. Hum. Genet. 1995; 57(4): A32 (159).
2. Collection of fetal cells from cervical canal during 1st trimester of pregnancy: Sampling technique, molecular analysis and isolation of purely fetal material. Tutschek B, Sherlock J, Halder A, et al. Europe. J Hum. Genet. 1996; 4(suppl.1): 20 (1.014).
3. Prenatal diagnosis of 4 Chromosome anomalies from TCC. Sherlock J, Tutschek B, Halder A, et al. Europ.J. Hum. Genet. 1996; 4 suppl.10: 126 (9.026).
4. Analysis of meiotic segregation in human nondecondensed interphase spermatozoa by multi color directs FISH. Halder A, Tutschek B. J Med Genet. 1996; 33 (suppl.1); S48 (12.001).
5. A minimally invasive prenatal diagnosis technique for the collection of transcervical cells. Ruangvutilert P, Halder A, Sherlock J, Jauniaux E, Anenzo MP, Adinolfi M. Am J Hum Genet 1997; 61(4) supplement: Abst. No. 924, Page A 161.
6. Rapid detection of ploidy in paraffin embedded formalin fixed tissue in perinatal autopsy material by interphase FISH: a search for the right tissue. Halder A & Park YK. Am J Hum Genet 1998; 63(4) supplement: abstract No. 871.
7. Sex Chromosome chimerism in early pregnancy: a report of 3 cases. Halder A, Park YK, et al. Eu J Hum Genet 1999; 7: P251 (May, Suppl.)
8. Is all Down syndrome cases mosaic? Evidence to support. Halder A, Park YK, et al. Cytogent Cell Genet 1999; 85: P633 (July, Suppl.).
9. Extreme Skewing of Sex Ratio in Recurrent Early Missed Abortions. Halder A, Fauzdar A & Kumar A. In Abstract Book of the 12th World Congress on Human Reproduction (Venezia, March 10-13, 2005); Electronic Publication (www.humanrep2005.org)
10. Halder A, Halder S, Fauzdar A. A Preliminary Investigation on Molecular Basis for Clinical Aggressiveness in Cervical Carcinoma by Comparative Genomic Hybridization and Conventional Fluorescent In-situ Hybridization. J of Cancer Research & Therapeutics 2006; 2: S15.
1. Halder A. Advances in Human Cytogenetics: an overview. In: Advances in Human Cytogenetics (CME Monograph Series II of National Academy of Medical Sciences of India). Editor: Halder A. 2002; pp.1-38.
2. Halder A, Fauzdar A & Kumar A. Extreme Skewing of Sex Ratio in Recurrent Early Missed Abortions. In: Human Reproduction; Editors: Genazzani AR, Schenker J, Artini PG, Simoncini T; Publisher: CIC Edizioni Internazionali, Roma, 2005; vol. 2 pp. 69-73.
3. Halder A, Fauzdar A & Kumar A. Do gonadotropins used for ovarian stimulation in assisted reproduction cause increase in chromosome aneuploidy, chromosome mosaicism and skewed sex ratio in embryos? In: Gonadal and Nongonadal Actions of Gonadotropins. Editor: Kumar A, Rao CV, Chaturvedi PK; Publisher: Narosa, New Delhi, 2010; vol. 1 pp.327-337.
4. Halder A. Clinical & Molecular Cytogenetics. In: API text book of medicine Editor: YP Munjal), 9th edition. 2012, Vol.1, Ch 3. pp 180-188.
5. Halder A & Manish Jain. Molecular Cytogenetics Manual. 2012
6. Handbook on Medical Genetics and Genetic Counseling. Edited by RK Marwaha, I Panigrahi & A Halder. Noble Vision (Medical Book Publishers; ISBN No. 978-81-906227-4-5) First Edn. 2013.
7. Halder A. Molecular cytogenetics. Chapter 26. In: Handbook on Medical Genetics and Genetic Counseling. Edited by RK Marwaha, I Panigrahi & A Halder. Noble Vision (Medical Book Publishers; ISBN No. 978-81-906227-4-5) First Edn. pp.181-186; 2013.
8. Hosseini A & Halder A. Genornics and human genome project. Chapter 27. In: Handbook on Medical Genetics and Genetic Counseling. Edited by RK Marwaha, I Panigrahi & A Halder. Noble Vision (Medical Book Publishers; ISBN No. 978-81-906227-4-5) First Edn. pp.187-189; 2013
1. Contribution in commercial syndrome data base computer software programme: London Dysmorphology Data Base, London, UK (LDDB) on Osteodysplastic Syndrome
2. Contribution in commercial syndrome data base computer software program: Possum Database, Melbourne, Australia on Osteodysplastic Syndrome
Contributed to London
Dysmorphology & Neurogenetics Databases for its Ophthalmo-genetics or
GENEEYE (latest addition) for its photographic library on Amniotic bands of
early amnion rupture
In-Charge: Dr. Ashutosh Halder, Associate Professor (Teaching Block, Second Floor, Room No. 2099, 2090C)
Tel: 011-26594211 Mobile: 09313309579
Sample Collection, Storage & Transportation
1 ml Heparinized & 1 ml EDTA blood in sterile condition
Transport to laboratory within 24 hours
Storage temperature & transportation temperature (if more than 6 hours) preferably between 5-10 *C
Semen/mouth wash/urine samples are preferred to be collected on site (laboratory)
PRINS (Primed In Situ Labeling)
Research & On Request
FISH with following clones from the BAC/PAC/YAC/Plasmid Library (vide table below)
BAC/PAC/YAC/ Plasmid Library (On Request and/or Research Work)
Microdeletion & Microduplication Syndrome