We Need to Improve Prenatal Screening Practices in Primary Obstetric Care: A Representative Data from a Fetal Medicine Unit in Coastal Karnataka

Abstract

Background The present observational data from the fetal medicine unit aim to identify gaps in prenatal screening modalities employed in the primary obstetric care population in coastal Karnataka. Methods A retrospective observational study of all referrals to Fetal Medicine unit is over 2 years. For each fetal abnormality, we reviewed the literature to note the range of gestational age at which the abnormality should almost always be diagnosed. Taking this as standard, the gestational age at which each of these problems was diagnosed and referred was noted down. They were compared and analysed to understand the efficiency of prenatal screening practices in the referral population. The final perinatal outcome was also noted down in order to assess the impact on perinatal mortality/morbidity. Results A total of 277 cases were referred to fetal medicine unit. Two hundred twenty-eight cases (82.31%) were low risk pregnancies. Among 277 cases, 200 (72.2%) had structural abnormalities, 7 (2.5%) chromosomal/ genetic abnormalities, 61 (22.02%) isolated soft markers, and 9 (3.2%) twin-related problems. Detection rate of structural abnormalities was 33% at 14 weeks and 52.22% at 20 weeks, considering those anomalies usually diagnosed by these gestational age windows. The primary reason for delayed diagnosis was non-performance of ultrasound “on time”, rather than missed diagnosis. Fifty-three per cent (106 out of 200) of all the fetal structural abnormalities were diagnosed beyond 20 weeks. Average gestational age at mid-trimester anomaly scan in this group was between 20 and 24 weeks. Sixty-one patients were referred due to isolated soft markers, 30 beyond 20 weeks. Eighty per cent of them did not have any aneuploidy screening in pregnancy. Conclusion Practice of fetal medicine hugely depends upon appropriate prenatal screening practices in the referral population. There is an urgent need to bring in standard protocols for Prenatal Screening across all the primary obstetric care providers, both in the public and private sectors. Considering the huge burden of delayed prenatal diagnosis in our country, the proposed revision of MTP bill is a welcome change in fast-growing field of fetal diagnosis and therapy.

Legal Limits Relaxed: Time to Look at Other Barriers Faced by Women Seeking Termination of Pregnancy for Fetal Anomalies

“…Most fetal structural abnormalities can be detected before 20 weeks of gestation [ 13 ]. None of the women in our study had such fetal malformations that could not have been detected by 18-19 weeks of gestational age, while many could have been diagnosed by the end of the first trimester.…”

A Novel Framework for Abnormal Risk Classification over Fetal Nuchal Translucency Using Adaptive Stochastic Gradient Descent Algorithm

“…The goal of this research [ 31 ] is to see how often ultrasonography results influence clinical care on the day of blood test for cell-free DNA (cfDNA) analysis. The current data in this study from the fetal medicine unit is being used to detect limitations in prenatal diagnostic techniques used in the primary obstetric care individuals in coastal Karnataka [ 32 ]. The authors examined the literature to see at what gestational age the anomaly must nearly always be identified.…”

Clinical Profile of Congenital Structural Defects in Pregnant Women Seeking for Medical Termination of Pregnancy in Second Trimester of Pregnancy at A Teaching Hospital. (2023)

“…3 Due to improved imaging capabilities, prenatal malformations are now discovered earlier, giving antenatal care providers or doctors the chance to provide counselling with the option of terminating the pregnancy in situations of lethal defects. 3 Many women are receiving a foetal anomaly diagnosis quite late, often in the second trimester of pregnancy, as a result of lack of information about prenatal screening and diagnostic testing 4 Three categories of congenital foetal malformations-lethal, severe, and mild-can be distinguished. Major congenital abnormalities are those that are fatal or severe, whereas moderate flaws are considered minor defects.…”