Ultrasound and Diagnosis of Fetal Anomalies

Gliozheni, Orion; Sylejmani, S.; Kati, Kreston

doi:10.5005/jp-journals-10009-1196

Cited by 5 publications

(5 citation statements)

References 5 publications

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“…[1] Congenital anomaly or malformation is an abnormality of structure, function or body metabolism which is present at birth and results in physical or mental disability. It is an important cause of perinatal mortality and morbidity.…”

Section: Abstract Backgroundmentioning

confidence: 99%

Study of Congenital Malformations in a Tertiary Care Centre, Government General Hospital, Kakinada

Kusumalatha¹,

Rani²,

Anuradha³

et al. 2017

jemds

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BACKGROUNDAny deviation from the normal during morphogenesis constitutes an anomaly. [1] Congenital anomaly or malformation is an abnormality of structure, function or body metabolism which is present at birth and results in physical or mental disability. It is an important cause of perinatal mortality and morbidity.The aim of the study is to determine the prevalence of congenital anomalies, types of anomalies and associated risk factors if any. MATERIALS AND METHODSThis was a hospital-based cross-sectional study over a period of one year in the Department of Radiodiagnosis, Rangaraya Medical College, Kakinada, AP. All congenital anomaly cases detected antenatally were included in the study. Cases were analysed to find out the prevalence, types of anomalies and its relation with risk factors including maternal age. RESULTSIncidence of foetal congenital anomalies were 0.7%. Out of 96 cases of congenital anomaly cases detected Central Nervous System (CNS) deformity was the commonest defect observed in 41 cases (42.7%), out of which maximum cases (32) had neural tube defect. Anomalies were found more in younger age group, in primi gravidae and in women with anaemia and in low socioeconomic group. Various risk factors were associated in 16 number of cases out of 96. CONCLUSIONIncidence of congenital anomalies were 0.7% and Neural Tube Defect (NTD) was the most common anomaly observed in our study. The risk factors are history of consanguinity (10.4%), previous history of abortions (3.13%) and family history of diabetes mellitus (2.08%). Routine anomaly scan is an important measure for early detection of malformations, primary prevention of disability and reducing perinatal mortality and morbidity.

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Section: Abstract Backgroundmentioning

confidence: 99%

Study of Congenital Malformations in a Tertiary Care Centre, Government General Hospital, Kakinada

Kusumalatha¹,

Rani²,

Anuradha³

et al. 2017

jemds

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“…4 Major fetal congenital anomalies are malformations that affect fetal viability and/or quality of life, and minor anomalies are malformations that are definitely present, but are minimal and usually have no functional significance. 5 About 20% of anomalies in live-born infants are based on defective gene, 10% are due to chromosomal abnormalities, and 10% are due to exogenous injury to the conceptus. 6 Some 60% of all congenital anomalies are of indeterminate cause or are multifactorial in origin (due to hereditary or environmental factors).…”

Section: Introductionmentioning

confidence: 99%

“…6 A priority goal in screening is early detection of major fetal anomalies. 5 Early detection will provide an opportunity for early counseling and intervention in the form of treatment or pregnancy termination where available and legally possible.…”

Section: Introductionmentioning

confidence: 99%

A Review of Five Cases of Fetal Congenital Anomalies Diagnosed during Prenatal Ultrasound: Management Problems and Limitations

Dayyabu¹,

Dattijo²,

Avidime³

et al. 2016

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Congenital/fetal anomalies are structural, functional, and/or biochemical-molecular defects present at birth whether detected at that time or not. Prevalence of congenital fetal anomalies in developing countries especially in Africa is underestimated. They are seen in 2 to 3% of newborns and about 94% of severe birth defects are seen in low-resource countries. Currently, they account for 20 to 30% of perinatal mortality in developed countries. Their contribution to perinatal mortality may be much higher in developing countries. They are also an important cause of maternal mortality in developing countries because they cause prolonged obstructed labor, ruptured uterus, postpartum hemorrhage, and sepsis. Ultrasound is a very important tool in prenatal diagnosis, but ultrasound usage faces a lot of challenges in Africa. When congenital anomalies are diagnosed in Africa, management becomes a challenge as patients may not even accept the diagnosis or the line of management and this leads to catastrophic complications for the mother and her unborn infant. To overcome these challenges, various measures must be taken, such as training for practitioners, provision of equipments, community enlightenments concerning causes, possible management, and prevention. This review is meant to highlight some of the challenges facing prenatal diagnosis and management of prenatally diagnosed congenital fetal anomalies in low-resource environments and suggest the way forward.

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“…A priority goal in screening is the early detection of major fetal anomalies, which are defined as malformations that affect fetal viability and/or quality of life. 1 During the past 10 years, some multicentric studies in Europe and USA show the successfulness of US diagnostics in detecting congenital abnormalities, even in women with low-risk pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of Congenital Anomalies during Routine Fetal Surveillance

Sylejmani¹,

Syla²,

Shala³

2015

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Background Birth defects are common in human development. Approximately 3% of newborns have a recognizable major anomaly, and at least 5% will ultimately be diagnosed with a congenital defect. Because of improvements in other areas of prenatal care, birth defects are the single most common cause of perinatal mortality in developed countries, accounting 20 to 25% of perinatal deaths. Now, many genetic and other disorders can be diagnosed early in pregnancy. Screening examinations during pregnancy are an essential part of prenatal care. Among the various screening tests that are now offered to pregnant women, ultrasound (US) has the broadest diagnostic spectrum. There is no modality that can detect as many abnormalities during pregnancy as US. A priority goal in screening is the early detection of major fetal anomalies, which are defined as malformations that affect fetal viability and/or quality of life. During the past 10 years, some multicentric studies in Europe and USA show the successfulness of US diagnostics in detecting congenital abnormalities, even in women with low-risk pregnancy. Definition of fetal anomalies Any deviation from the normal range during morphogenesis, constitutes an anomaly. Major anomalies are malformations that affect viability and/or the quality of life and require intervention, and minor anomalies are malformations that are definitely present, but are minimal and usually have no functional significance (e.g. ear tags). Incidence data on major congenital anomalies vary considerably, depending on the type of detecting system used. The passive detection system reports 2 to 3% of newborns, meanwhile the active detection system, in which newborns are systematically examined by trained obstetricians, reports the incidence of congenital defects in 7.3% of all newborns. Etiology About 20% of anomalies in live-born infants are based on a defective gene, 10% are due to chromosomal abnormalities and 10% are mainly due to exogenous injury to the conceptus. Some 60% of all congenital anomalies are indeterminate or multifactorial causes (hereditary factors and environmental influences). Ultrasound can detect about 74% of major birth defects and possibly a higher number, when conducted by a well-trained specialist. We have demonstrated in this paper some fetal anomalies found by US during our practice in Kosovo. There are some different anomalies of almost all systems of the organs of the fetal body, some of them more frequent and some very rare anomalies. Conclusion Ultrasound diagnostic is a very useful method for evaluating the fetal health, fetal anomalies, anomalies of placenta and amniotic fluid as well as umbilical cord. How to cite this article Sylejmani S, Syla B, Shala S. Diagnosis of Congenital Anomalies during Routine Fetal Surveillance. Donald School J Ultrasound Obstet Gynecol 2015; 9(2):159-174.

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Ultrasound and Diagnosis of Fetal Anomalies

Cited by 5 publications

References 5 publications

Study of Congenital Malformations in a Tertiary Care Centre, Government General Hospital, Kakinada

Study of Congenital Malformations in a Tertiary Care Centre, Government General Hospital, Kakinada

A Review of Five Cases of Fetal Congenital Anomalies Diagnosed during Prenatal Ultrasound: Management Problems and Limitations

Diagnosis of Congenital Anomalies during Routine Fetal Surveillance

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