Burden of sickle cell disease among pregnant women in central India

Self-reported family screening status for SCD (n=334)

Of the total participants, 61.1% (n=204) said that their spouse were screened for SCD, while the remaining were either not screened (36.2%) or unsure (2.7%) whether their spouse had been tested. Of the 334 respondents, with a total of 532 children (ratio 1:1.6), only 42.5% (n=226) had been screened for SCD to date. The graphical representation of participants’ spouses and children screening status is shown in Figure A. The comparison participant condition, along with their spouse and child’s screening completion status, is shown in Figure B. The proportion of children screened for SCD was lower than that of spouses in all the respondent conditions.

Pregnancy outcomes among the conditions differed significantly (P<0.05). Individuals with SS had a longer hospital stay (13 days), a lower birth weight for their baby (2.25 kg), a higher incidence of preterm birth (33.3%), an increased likelihood of caesarean delivery (83.3%), and a higher rate of blood transfusions (50%) during their delivery (Supplementary Table III and Supplementary Figure).

Hemoglobinopathy screening and elimination is an important initiative by the Government of India. The National Sickle Cell Anaemia Elimination Mission focuses on ANC screening and family. An important factor to be highlighted here is the trimester-wise screening of pregnant women for SCD as per our data (n=4457). Only 1467 (32.9%) women were screened in the first trimester, while 1657 (37.2%) and 1333 (29.9%) underwent screening in the 2nd and 3rd trimesters of pregnancy, respectively. Similar findings were observed in thalassemia screening undertaken in Mumbai.⁵ This is a gap that needs to be addressed, and first-trimester screening, followed by spousal screening and then prenatal screening with appropriate counselling services to help the family make appropriate reproductive choices if required, is a crucial step towards sickle cell elimination. A small record of prenatal diagnosis procedure maintained at the institute showed that the majority of the couples (80.3%) opted to undergo the prenatal diagnosis procedure, and nearly 50% of them chose to undergo subsequent termination of pregnancy. This finding mirrors similar findings in the other settings.⁶ As health care providers, however, we must be conscious of the ethical issues surrounding medical termination of pregnancy, in terms of procedural risks and challenges as well as the socio-cultural and religious considerations, and help the couple in the decision-making process, respecting their autonomy at all levels.⁷

In our study, 61.1% of spouses of women with abnormal haemoglobin status were reported to be screened, with an increase in the screening percentage to 83.3% in the case of those with SS. However, the efforts to focus on increasing this percentage further in the aim of sickle cell elimination are to be achieved.⁸ Willingness to undergo screening is associated with higher education amongst both spouses. As mentioned in the results, children’s screening was lower than spousal screening. In our opinion, these vulnerable groups should be specifically targeted under the programme, which will help increase the screening rate and enable targeted efforts to identify those at risk of inheriting the disease and help them access quality care if required.

There are some limitations in our study: it is based on an analysis of institutional records and partially relies on participants’ recall of family screening information, which may introduce recall bias.

However, our study underlines the importance of early screening for pregnant women for hemoglobinopathies, thereby highlighting the need for specialised care for those diagnosed with SCD. Strengthening first-trimester screening, ensuring testing of spouses and children, and integrating counselling and health education into maternal health services are crucial. Focused efforts toward awareness generation, community engagement, and systematic service delivery will be key to achieving the goals of the National Sickle Cell Anaemia Elimination Mission in high-prevalence regions.