Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India—An LMIC Setting—Over Half a Decade
Single gene conditions were major indications for prenatal invasive testing. Targeted testing was performed significantly more frequently than expanded testing. Although hemoglobinopathy continues to be the most common indication, others showed a rising trend in the recent years. For expanded testing, WES has been increasingly used over CES, especially in the recent years.
Authors
- Mahasampath Gowri (ORCID: https://orcid.org/0000-0002-0251-0763)
- Eunice Sindhuvi Edison (ORCID: https://orcid.org/0000-0002-9726-1324)
- Manisha Madhai Beck (ORCID: https://orcid.org/0000-0002-6836-3890)
- Rekha Aaron (ORCID: https://orcid.org/0000-0002-6376-8071)
- Lyn James (ORCID: https://orcid.org/0009-0000-8620-0860)
- Preethi Raja Navaneethan (ORCID: https://orcid.org/0000-0003-4220-0097)
- Sumita Danda (ORCID: https://orcid.org/0000-0001-8973-370X)
- Hemalatha Illangovan (ORCID: https://orcid.org/0009-0008-0182-5019)
- Noel Deep Luke (ORCID: https://orcid.org/0009-0009-9000-442X)
Institutions
- Christian Medical College, Vellore (IN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-05-19
- DOI
- https://doi.org/10.1002/pd.6815
- Citations
- 2
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 6.99