DIAGNOSIS AND OUTCOME OF ANTENATAL OSTEOGENESIS IMPERFECTA – A GLOBAL META-ANALYSIS

Objectives: Osteogenesis imperfecta (OI) encompasses a variety of heterogeneous conditions of connective tissue. Current study aims to determine accuracy of Ultrasonography (USG) for prenatal diagnosis and its impact on postnatal outcome of pregnancy. Publicly Method: available English databases, PubMed, Cochrane library and Google Scholar, were queried and mined a total of 164 research documents, of which 11 articles were selected based on predetermined criteria. The review analyzed protocol of scan, average gestational age, accuracy of diagnosis, diagnostic criteria, other investigation employed and conclusion of study. Total 106 cases identified Result: in studies, out of which 83 diagnosed correctly on prenatal USG. Out of these 83 cases 50 cases opt for Termination of Pregnancy (TOP), while 15 had perinatal mortality and 18 had live birth including 3 Cesarean sections (CS). Most of study employed detailed 2nd trimester scan. Diagnostic criteria in most study include shortening and bowing of long bones, hypomineralization of bones, multiple bone fractures including beaded ribs, oligohydramnios, chest hypoplasia and poor mineralization of calvaria. Detail 2nd trimester USG scan is investigation of choice. Findings Conclusion: of shortening and bowing of long bones, hypomineralization of bones and multiple bone fractures including beaded ribs is most accurate and commonly employed. Accurate diagnosis has great impact on genetic counselling of parents and their decision-making regarding continuation of pregnancy

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Publication Details

Journal
INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH
Published
2025-03-01
DOI
https://doi.org/10.36106/ijsr/7106001
Primary Topic
Connective tissue disorders research
Type
article
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article

DIAGNOSIS AND OUTCOME OF ANTENATAL OSTEOGENESIS IMPERFECTA – A GLOBAL META-ANALYSIS

Manish Khanna, Palak Thakkar, Vishnu Senthil, Krunal Thakrar et al.
INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH
Connective tissue disorders research
article

DIAGNOSIS AND OUTCOME OF ANTENATAL OSTEOGENESIS IMPERFECTA – A GLOBAL META-ANALYSIS

Manish Khanna, Palak Thakkar, Vishnu Senthil, Krunal Thakrar, Kishan Harakhani, Hardik Kharbanda
article en

Abstract

Objectives: Osteogenesis imperfecta (OI) encompasses a variety of heterogeneous conditions of connective tissue. Current study aims to determine accuracy of Ultrasonography (USG) for prenatal diagnosis and its impact on postnatal outcome of pregnancy. Publicly Method: available English databases, PubMed, Cochrane library and Google Scholar, were queried and mined a total of 164 research documents, of which 11 articles were selected based on predetermined criteria. The review analyzed protocol of scan, average gestational age, accuracy of diagnosis, diagnostic criteria, other investigation employed and conclusion of study. Total 106 cases identified Result: in studies, out of which 83 diagnosed correctly on prenatal USG. Out of these 83 cases 50 cases opt for Termination of Pregnancy (TOP), while 15 had perinatal mortality and 18 had live birth including 3 Cesarean sections (CS). Most of study employed detailed 2nd trimester scan. Diagnostic criteria in most study include shortening and bowing of long bones, hypomineralization of bones, multiple bone fractures including beaded ribs, oligohydramnios, chest hypoplasia and poor mineralization of calvaria. Detail 2nd trimester USG scan is investigation of choice. Findings Conclusion: of shortening and bowing of long bones, hypomineralization of bones and multiple bone fractures including beaded ribs is most accurate and commonly employed. Accurate diagnosis has great impact on genetic counselling of parents and their decision-making regarding continuation of pregnancy

INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH
Government Medical College (IN), Government Royapettah Hospital (IN), All India Institute of Medical Sciences Bhopal (IN)
Openalex Percentile: Top 93%
Connective tissue disorders research
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