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.
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http://dx.doi.org/10.1007/s13224-021-01456-3 | DOI Listing |
Adv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFIran J Parasitol
January 2024
Center for Research of Endemic Parasites of Iran, Tehran University of Medical Sciences, Tehran, Iran.
is an intracellular parasite capable of crossing the placenta in pregnancy and infecting the developing fetus, leading to various congenital anomalies and even abortion. Acute infection is responsible for almost all cases of congenital toxoplasmosis in immunocompetent pregnant women. Prenatal screening for acute toxoplasmosis primarily involves maternal serology and fetal ultrasound imaging.
View Article and Find Full Text PDFFront Nutr
December 2024
Department of Gastroenterology, "Grigore T. Popa" University of Medicine and Pharmacy, Iași, Romania.
Background/objectives: Schizophrenia is a complex mental disorder influenced by genetic and environmental factors, including dietary habits. Oxidative stress and inflammation play a crucial role in the pathophysiology of schizophrenia. Emerging research suggests that diet may affect schizophrenia through different biological mechanisms beyond oxidative stress and inflammation.
View Article and Find Full Text PDFHong Kong Med J
December 2024
Year 2, The University of Hong Kong, Hong Kong SAR, China.
Pediatr Infect Dis J
October 2024
Department of Epidemiology and Surveillance, Hospital Christus Muguerza Alta Especialidad, Monterrey, México.
Background: Congenital syphilis (CS) is an infectious disease caused by Treponema pallidum, which is transmitted through the placenta during pregnancy. Since 2001, a notable and consistent rise in the prevalence of CS cases has been observed, especially in low- and middle-income countries. Currently, information regarding the risk factors for this phenomenon has been scarcely addressed.
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