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      Early Detection of Fetal Malformation, a Long Distance Yet to Cover! Present Status and Potential of First Trimester Ultrasonography in Detection of Fetal Congenital Malformation in a Developing Country: Experience at a Tertiary Care Centre in India

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          Abstract

          Background. Early detection of malformation is tremendously improved with improvement in imaging technology. Yet in a developing country like India majority of pregnant women are not privileged to get timely diagnosis. Aims and Objectives. To assess the present status and potential of first trimester ultrasonography in detection of fetal congenital structural malformations. Methodology. This was a retrospective observational study conducted at Sanjay Gandhi Postgraduate Institute of Medical Sciences. All pregnant women had anomaly scan and women with fetal structural malformations were included. Results. Out of 4080 pregnant women undergoing ultrasound, 312 (7.6%) had fetal structural malformation. Out of 139 patients who were diagnosed after 20 weeks, 47 (33.8%) had fetal structural anomalies which could have been diagnosed before 12 weeks and 92 (66.1%) had fetal malformations which could have been diagnosed between 12 and 20 weeks. Conclusion. The first trimester ultrasonography could have identified 50% of major structural defects compared to 1.6% in the present scenario. This focuses on the immense need of the hour to gear up for early diagnosis and timely intervention in the field of prenatal detection of congenital malformation.

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          Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol.

          To assess the potential of first-trimester sonography in the detection of fetal abnormalities using an extended protocol that is achievable with reasonable resources of time, personnel and ultrasound equipment.
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            Accuracy of ultrasonography at 11-14 weeks of gestation for detection of fetal structural anomalies: a systematic review.

            To review the literature concerning the efficacy of early ultrasonography (at 11-14 weeks of gestation) to identify fetal malformations. A search in PubMed, MEDLINE, Embase, Cochrane Library, and ClinicalTrials.gov was performed (January 2000 to December 2012). Keywords were: fetal anatomy, fetal echocardiography, nuchal translucency, fetal structural anomalies, fetal malformations, prenatal diagnosis, prenatal screening, and first-trimester ultrasonography. Inclusion criteria were: fetal anatomy examination at early ultrasonography and diagnosis of fetal malformations confirmed by postnatal or postmortem examination. Data abstracted were: sample size, location of structural defect, ultrasound modality, presence of multiple defects, and study population. Pooled detection rate was calculated for each malformation and compared with χ. Differences were considered statistically significant if P<.05. From 1,203 articles, 19 were included. Overall, we pooled 78,002 fetuses undergoing ultrasonography at 11-14 weeks, of which 996 were malformed, leading to prevalence of malformation of 12 per 1,000. The overall detection rate was 472 of 957 (51%). The highest detection rate was achieved for neck anomalies (92%), whereas limbs (34%), face (34%), and genitourinary anomalies (34%) were associated with the lowest detection rate. At 14 weeks of gestation or less, fetal echocardiography detected 53% of congenital heart disease compared with 43% by complete scan (P=.040). The use of Doppler did not improve the detection rate for congenital heart defects (52% compared with 44%, respectively; P=.11). Multiple defects were identified more frequently than isolated malformations (60% compared with 44%; P=.005). The detection rate was higher combining transabdominal and transvaginal techniques (62%) than either abdominal (51%) or transvaginal (34%; P<.001). Detection rate was higher in women at high risk (65%) than unselected population (50% P=.001). Because of the natural history of fetal defects and the late development of some organ systems, a number of fetal malformations remain undetected by early ultrasonography.
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              Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan.

              To assess the diagnostic efficacy of the first-trimester anomaly scan including first-trimester fetal echocardiography as a screening procedure in a 'medium-risk' population. In a prospective study, we evaluated 3094 consecutive fetuses with a crown-rump length (CRL) of 45-84 mm and gestational age between 11 + 0 and 13 + 6 weeks, using transabdominal and transvaginal ultrasonography. The majority of patients were referred without prior abnormal scan or increased nuchal translucency (NT) thickness, the median maternal age was, however, 35 (range, 15-46) years, and 53.8% of the mothers (1580/2936) were 35 years or older. This was therefore a self-selected population reflecting an increased percentage of older mothers opting for prenatal diagnosis. The follow-up rate was 92.7% (3117/3363). The prevalence of major abnormalities in 3094 fetuses was 2.8% (86/3094). The detection rate of major anomalies at the 11 + 0 to 13 + 6-week scan was 83.7% (72/86), 51.9% (14/27) for NT or= 2.5 mm. The prevalence of major congenital heart defects (CHD) was 1.2% (38/3094). The detection rate of major CHD at the 11 to 13 + 6-week scan was 84.2% (32/38), 37.5% (3/8) for NT or= 2.5 mm. The overall detection rate of fetal anomalies including fetal cardiac defects following a specialist scan at 11 + 0 to 13 + 6 weeks' gestation is about 84% and is increased when NT >or= 2.5 mm. This extends the possibilities of a first-trimester scan beyond risk assessment for fetal chromosomal defects. In experienced hands with adequate equipment, the majority of severe malformations as well as major CHD may be detected at the end of the first trimester, which offers parents the option of deciding early in pregnancy how to deal with fetuses affected by genetic or structural abnormalities without pressure of time. Copyright 2006 ISUOG. Published by John Wiley & Sons, Ltd.
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                Author and article information

                Journal
                J Pregnancy
                J Pregnancy
                JP
                Journal of Pregnancy
                Hindawi Publishing Corporation
                2090-2727
                2090-2735
                2015
                23 November 2015
                : 2015
                : 623059
                Affiliations
                Department of Maternal and Reproductive Health, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Lucknow 226 014, India
                Author notes
                *Namrata Kashyap: dr.nmrata@ 123456gmail.com

                Academic Editor: R. L. Deter

                Article
                10.1155/2015/623059
                4670877
                26759727
                1605d873-b1ab-4104-a039-c1aa6b056edf
                Copyright © 2015 Namrata Kashyap et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 4 September 2015
                : 27 October 2015
                Categories
                Research Article

                Obstetrics & Gynecology
                Obstetrics & Gynecology

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