Journal of South Asian Federation of Obstetrics and Gynaecology

Register      Login

VOLUME 15 , ISSUE 2 ( March-April, 2023 ) > List of Articles

Original Article

“A Tale of ‘AR’: A Rare All-round Review of Obstetric Autosomal Recessive Disorders”

Aditya Rajiv Nimbkar, Shruti A Panchbudhe, Sumedha S Pathade, Shivani Maske, Prachi Palve, Kiran Gaware

Keywords : Autosomal recessive, Bloom syndrome, Dubin–Johnson syndrome, Genetic disorder, Homocysteinemia, Preconception care, Sickle cell disease, Wilson disease

Citation Information : Nimbkar AR, Panchbudhe SA, Pathade SS, Maske S, Palve P, Gaware K. “A Tale of ‘AR’: A Rare All-round Review of Obstetric Autosomal Recessive Disorders”. J South Asian Feder Obs Gynae 2023; 15 (2):175-179.

DOI: 10.5005/jp-journals-10006-2211

License: CC BY-NC 4.0

Published Online: 11-05-2023

Copyright Statement:  Copyright © 2023; The Author(s).


Aim: The aim of this study was to understand the obstetric management of autosomal recessive (AR) disorders. Background: Pregnancy is fickle in nature. While it can put a veil on a few diseases and cause their remissions, it can as well unmask several other disorders, making itself a window for diagnosis. Not only does it help salvage the mother from further complications of such disorders but also provides the obstetricians an opportunity to know whether her future progeny, nurturing within her currently, shall be affected by those disorders. Case description: Hereby, we discuss six cases of rare disorders of autosomal recessive origin in our case series that can possibly cause profound morbidity to both the fetus and the mother. Conclusion: While not encountered routinely, a knowledge of these goes a long way in securing the loose ends of the finer aspects of maternal and fetal outcomes in maternal autosomal recessive disorders. Clinical significance: Not only do these disorders cause poor outcomes on their own, but the drugs used to maintain their remissions are also often teratogenic and require reconsideration with astute preconceptional counseling. In lieu of the paucity of literature on this subject, this case series will be an invaluable addition to the obstetric management of autosomal recessive disorders.

  1. Sickle Cell Disease in Pregnancy, Management of (Green-top Guideline No. 61). Available from:
  2. Flanagan M, Cunniff CM. Bloom syndrome. 2006 Mar 22 [Updated 2019 Feb 14]. In: Adam MP, Everman DB, Mirzaa GM, et al., (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301572.
  3. An Interesting Case of Successful Maternal and Fetal Outcome in a Case of Chronic Liver Disease with Wilson Disease. J South Asian Feder Obs Gynae 2022;14(3):340–342. DOI: 10.5005/jp-journals-10006-2076.
  4. Nimbkar AR, Panchbudhe SA, Deshmukh P, et al. The Icteric Riddle: A diagnostic conundrum to diagnose maternal Dubin–Johnson Syndrome. J South Asian Feder Obs Gynae 2022;14(5):625–626.DOI:
  5. Endres W. D-penicillamine in pregnancy–To ban or not to ban? Klin Wochenschr 1981;59(11):535–537. DOI: 10.1007/BF01716453. PMID: 7265809.
  6. Justine Gellen-Dautremer, Sylvain Le Jeune, Marie-Catherine Receveur, et al. Hydroxyurea exposure throughout pregnancy in patients with sickle-cell disease: 4 Case Reports from European Non-Interventional, Multicentric, Prospective Escort-HU Study. Blood 2019;134(1):1027. DOI:
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.