Accuracy of the mid-trimester ultrasound scan in the detection of fetal congenital anomalies in a reference center in Northeastern Brazil

Leiróz, Rafael; Aquino, Marcelo de Amorim; Santos, Kleber Pimentel; Monteiro, Marcelo Dantas Cerqueira; Aires, Talita Silva de Freitas; Júnior, Edward Araujo; Sarno, Manoel

doi:10.1016/j.jogoh.2021.102225

Cited by 4 publications

(2 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Akinmoladun et al 12 report a 93.5% specificity of prenatal ultrasound anomaly screening program. Leiroz et al 13 in a similar study report sensitivity and specificity of the scan to be 61.1% and 96.3%, respectively. These data suggest a good specificity but fair sensitivity.Hu et al 9 also suggest that 5% of CNS anomalies are missed even after routine ultrasound scans.…”

Section: Discussionmentioning

confidence: 82%

Dandy walker variant with agenesis of corpus callosum diagnosed late prenatally by fetal ultrasound: a case report

Paudel,

Poudel,

Shah

et al. 2024

Annals of Medicine &Amp; Surgery

View full text Add to dashboard Cite

Introduction and Importance: Dandy walker variant is an intracranial disorder involving variable hypoplasia of cerebellar vermis without posterior fossa enlargement. An anomaly scan performed at mid second trimester has good sensitivity and specificity for detecting fetal congenital anomalies. Despite that, some cases like ours might go undiagnosed due to normal biometric parameters for that gestational age and may be detected later in intrauterine life. Case Presentation: A primi-gravid mother underwent sonographic evaluation at 20+4 weeks of gestation that revealed all fetal parameters within normal limits. Only at 30+2 weeks of gestation, a posterior fossa cyst communicating with forth ventricle was detected. Fetal MRI done at 8 days of life (DOL), confirmed these findings and diagnosis of Dandy Walker Variant with agenesis of corpus callosum was made. Clinical Discussion: Although the chances of a CNS anomaly is exceedingly low when fetal metrics like head circumference, atrial width and Cisterna Magna are within normal limits, some cases like ours may develop anomalies later in the intrauterine life which may lead to delayed diagnosis of the cases. Thorough performance of anomaly scan involving a multiplanar approach may help in prompt diagnosis of fetal anomalies. Conclusion: The risks of development of posterior fossa anomalies can exist even after second trimester scan, Clinicians should be aware of this possibility and assess the posterior fossa at repeat scans done later in intrauterine life. Early diagnosis can provide an option to couples of the termination of pregnancy which is complicated when detected later in the intrauterine life.

show abstract

Section: Discussionmentioning

confidence: 82%

Dandy walker variant with agenesis of corpus callosum diagnosed late prenatally by fetal ultrasound: a case report

Paudel,

Poudel,

Shah

et al. 2024

Annals of Medicine &Amp; Surgery

View full text Add to dashboard Cite

show abstract

“…As shown in previous studies, the detection rate of foetal malformations in the first trimester can reach more than 60% [ 34 ], with a high positive predictive value (94.7%), and a high negative predictive value (98.7%) [ 35 ]. Compared with the records following pregnancy termination, the sensitivity, specificity, and accuracy of the mid-trimester ultrasound screening for congenital malformation detection were 61.1%, 96.3%, and 94.3%, respectively [ 36 ]. The detection rate can be as high as 81.4% before the third trimester [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of single umbilical artery and risk of foetal congenital malformations by prenatal ultrasound: a retrospective study

Yu,

Wu,

Kong

et al. 2024

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

Background Single umbilical artery (SUA) is strongly associated with foetal structural abnormalities; however, the exact pattern of this association has not been described. We aimed to investigate the occurrence of malformations in singleton pregnancies with SUA in China and to study the association between the absent side of the umbilical artery and foetal malformations. Methods This was a retrospective study of singleton pregnancies for which routine first-trimester anatomical screening was performed at 11+ 0-13+ 6 gestational weeks and, if the pregnancy continued, a second-trimester scan was performed at 20+ 0-24+ 0 weeks. Data were extracted from records at the referral centre, the Obstetrics and Gynecology Hospital of Fudan University, between January 2011 and April 2019 (n = 47,894). Using logistic regression, the odds ratios (OR) with 95% confidence intervals (CIs) were calculated for malformations associated with SUA. Results The incidence of SUA in our study was 2.0% (970/47,894). Of all foetuses with SUA, 387 (39.9%) had structural malformations. The malformation type varied, with cardiovascular complications being the most common. A robust association was observed between SUA and oesophageal stenosis or atresia (OR: 25.33), followed by cardiovascular (OR: 9.98–24.02), scoliosis (OR: 18.62), genitourinary (OR: 2.45–15.66), and brain malformations (OR: 4.73–9.12). The absence of the left umbilical artery (n = 445, 45.9%) was consistent with that of the right umbilical artery (n = 431, 44.4%). Furthermore, a significantly higher rate of an absent right than the left umbilical artery (p<0.01) was observed in SUA with foetal abnormalities than in SUA with no malformations. Conclusions Overall, we observed a higher risk of various specific malformations in foetuses with SUA, and a strong association between SUA and oesophageal stenosis or atresia. The absence of the right umbilical artery was most common in foetuses with SUA and structural malformations. This study provides a reference for ultrasonographers in conducting foetal structural screening for pregnant women with SUA.

show abstract

Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations

Buijtendijk,

Bet,

Leeflang

et al. 2024

Cochrane Database of Systematic Reviews

View full text Add to dashboard Cite

Accuracy of the mid-trimester ultrasound scan in the detection of fetal congenital anomalies in a reference center in Northeastern Brazil

Cited by 4 publications

References 31 publications

Dandy walker variant with agenesis of corpus callosum diagnosed late prenatally by fetal ultrasound: a case report

Dandy walker variant with agenesis of corpus callosum diagnosed late prenatally by fetal ultrasound: a case report

Diagnosis of single umbilical artery and risk of foetal congenital malformations by prenatal ultrasound: a retrospective study

Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations

Contact Info

Product

Resources

About