Ultrasonographic soft markers of aneuploidy in second trimester fetuses

Ali, Mohammed Khairy; Shazly, Sherif A.; Ali, Ali H.; Abdelbadee, Ahmed Y.; Abbas, Ahmed M.

doi:10.1016/j.mefs.2012.04.007

Cited by 15 publications

(20 citation statements)

References 29 publications

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“…18 Although proper timing of referral for fetal echocardiography is between 18-22 weeks of gestation, majority (75.7%) of referral we received were after 22 wks. 19 the reason might be due to unavailability of fetal echocardiography in multi speciality hospitals from where our study population were referred. Moreover, lack of awareness of proper timing of fetal echocardiography also plays an important role in delayed study.…”

Section: Discussionmentioning

confidence: 99%

Fetal Echocardiography:Short Term Profile from Shahid Gangalal National Heart Centre, Kathmandu, Nepal

Regmi

Sharma

2016

Nepalese Heart J.

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Background and Aims: Fetal echocardiography is helpful in early detection of Congenital Heart Disease.Our study was conducted to evaluate the most common indications of referral and outcome in a tertiary-care fetal echocardiography practice. Methods: A Cross-sectional analysis of all pregnant women referred by obstetricians to cardiology unit for fetal echocardiography over a 1-year period (July 2014 and July 2015) was performed. The primary indications for referral for fetal echocardiography were obtained from the obstetric referral forms. Outcome data were extracted from performa containing client's demographic, physical examination and the fetal echocardiograhic data. Postnatal Echocardiography was advised to all cases having positive echocardiographic finding. Results: A series of 251 fetal cardiac studies were reviewed. Average gestational age was 25.6 weeks (range, 18 to 38 weeks). Thirty-eight (15.1%) pregnant women had abnormal fetal cardiac findings. The most common referral for fetal cardiac scan was related to maternal indications (48.6%). Other indications were abnormal prenatal fetal findings in ultrasonography (23.1%), family history of CHD (12%), general screening (15.5%), and follow up of IVF(In-vitro fertilization) (0.8%). The highest yield of significant abnormal findings was there among patients referred with abnormal prenatal fetal finding in ultrasonography (47%). Conclusion: Majority of referral were for abnormal prenatal ultrasonographic findings. So, fetal echocardiography is an important part of overall management of the pregnancy at risk for producing an infant with congenital heart disease.

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Section: Discussionmentioning

confidence: 99%

Fetal Echocardiography:Short Term Profile from Shahid Gangalal National Heart Centre, Kathmandu, Nepal

Regmi

Sharma

2016

Nepalese Heart J.

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“…For prenatal cases, rWES was offered following the detection of multiple fetal congenital anomalies suggestive of a possible genetic etiology detected by ultrasound imaging in level III academic centers, executed or supervised by Maternal Fetal Medicine specialists. In case of an isolated major anomaly or (multiple) soft markers, 21 rWES was only offered if there was a high suspicion of a genetic cause. A detailed case by case description of the clinical presentation is provided in Appendix S1.…”

Section: Patient Eligibility and Selection For Prenatal Rwesmentioning

confidence: 99%

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Deden

Neveling²,

Zafeiropopoulou

et al. 2020

Prenatal Diagnosis

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Objective: The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging. Methods: In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7). Results: A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of

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“…6 The newborn with thanatophoric dysplasia usually dies shortly after birth from respiratory failure; but some individuals have survived with extensive medical care. 7 Thanatophoric dysplasia is an autosomal dominant disorder due to the mutation of the FGFR3 gene; so the disorder has not been passed to the next generation because individuals with the mutation rarely survive and have children. This gene is responsible for the development and maintenance of bone and brain tissue.…”

Section: Figure 2: Showing Fetus With Narrow Chest (White Arrow) Withmentioning

confidence: 99%

The unexpected presence of a huge cystic hygroma with thanatophoric dysplasia type I: a case report

Ali

Shazly

Abbas

et al. 2015

Proc Obstet Gynecol

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Ultrasonographic soft markers of aneuploidy in second trimester fetuses

Cited by 15 publications

References 29 publications

Fetal Echocardiography:Short Term Profile from Shahid Gangalal National Heart Centre, Kathmandu, Nepal

Fetal Echocardiography:Short Term Profile from Shahid Gangalal National Heart Centre, Kathmandu, Nepal

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

The unexpected presence of a huge cystic hygroma with thanatophoric dysplasia type I: a case report

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