Is a Routine Ultrasound in the Third Trimester Justified? – Additional Fetal Anomalies Diagnosed After Two Previous Unremarkable Ultrasound Examinations

Manegold, G.; Tercanli, Sevgi; Struben, H.; Huang, Dorothy Jane; Kang, Anjeung

doi:10.1055/s-0029-1245799

Cited by 22 publications

(22 citation statements)

References 28 publications

(25 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Thus, it ensures prompt and timely postnatal intervention. Manegold-Brauer et al [13] also support our findings which found an increased rate of detection of fetal anomalies by a third-trimester scan. Hence, it is important not to skip fetal USG in the third trimester, which can help us find out renal anomalies requiring early postnatal intervention.…”

Section: Discussionsupporting

confidence: 90%

Clinico-Biochemical Profile of Children with Congenital Anomalies of the Kidney and Urinary Tract: A Cross-Sectional Study

et al. 2018

View full text Add to dashboard Cite

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of disorders responsible for the majority of pediatric end-stage renal disease cases. There are only a few studies on CAKUT. Objectives: A study was conducted to determine the clinical and biochemical profile of children with CAKUT and to estimate the prevalence and the factors associated with hypertension in CAKUT. Methods: A cross-sectional study was conducted in a tertiary center for 18 months from March 2014 to August 2015. Demographic data were recorded, and clinical examination including blood pressure measurement was performed. Various biochemical parameters including plasma renin activity (PRA), urinary beta-2-microglobulin (B2M), and microalbuminuria were evaluated. Results: A total of 81 patients with CAKUT were studied. Twenty-two (27%) patients were underweight, 4 (5%) patients were stunted, and 26 (32%) were both underweight and stunted. Children with bilateral disease had a higher incidence of underweight (21/44 vs. 8/37; p = 0.04; 95% CI; Fisher exact test), and both underweight and stunted (25/44 vs. 10/37; p = 0.006; 95% CI; Fisher exact test) compared to children with unilateral disease. Hypertension was found in 27% cases. No association was found between hypertension and PRA, BM2, or microalbuminuria in our study. PRA was inversely proportional to the estimated glomerular filtration rate (eGFR) (Pearson test; 95% CI; p = 0.006). Conclusions: Bilateral disease in CAKUT was significantly associated with poor somatic growth. PRA was inversely proportional to eGFR. The prevalence of hypertension was higher in children with CAKUT than in normal children and is possibly multifactorial as it was not associated with elevated PRA, B2M, or microalbuminuria.

show abstract

Section: Discussionsupporting

confidence: 90%

Clinico-Biochemical Profile of Children with Congenital Anomalies of the Kidney and Urinary Tract: A Cross-Sectional Study

et al. 2018

View full text Add to dashboard Cite

show abstract

“…In these situations, a specialized sonographic examination showing no additional malformations can be particularly reassuring. The overall detection rate of fetal abnormalities in our unit was shown previously to be 90% 12 . Nearly one‐third of our patients presented with polydactyly of a chromosomal origin: 5 of 7 with trisomy 13, either confirmed by chromosome analysis or clinically evident, and 1 with trisomy 18 (Table 2).…”

Section: Discussionsupporting

confidence: 58%

Fetal Polydactyly

Filges

Kang

Hench

et al. 2011

J of Ultrasound Medicine

View full text Add to dashboard Cite

A Study of 24 Cases Ascertained by Prenatal Sonographyongenital malformations of the limbs are among the most frequent congenital anomalies in humans. They are clinically and genetically heterogeneous and preferentially affect the distal parts of limbs: the hands and feet. 1,2 The presence of an abnormal number of digits is the most frequent limb anomaly and is a consequence of a disturbance in the genetic program of embryonic limb development. Polydactyly implies the occurrence of supernumerary digits and toes, whereas oligodactyly indicates fewer than 5 digits. An anomaly in the number of digits can appear as an isolated condition or be part of a syndrome including additional malformations, cognitive impairment, or both.Improvements in sonographic techniques and improved training of specialists in fetal sonography have increased early detection of structural defects, including polydactyly, in the first trimester of pregnancy. 3,4 Counseling of parents in a case of fetal polydactyly is challenging because there is a potential risk of occurrence in a syndromic context, including a prognosis of developmental disability for the child. It is sometimes difficult to draw the line between isolated and syndromic polydactyly. Therefore, it is extremely important to obtain information as completely as possible on the family history, familial occurrence of polydactyly, detailed clinical information on the fetus by sonography, and genetic testing by invasive diagnosis if necessary, especially for chromosomal anomalies. We describe our experience with 24 pregnancies in our tertiary antenatal center, which handles routine examinations as well as high-risk pregnancies and is a referral center for genetic sonography. CASE SERIESRecords of 24 pregnancies with fetal polydactyly were reviewed for the type of polydactyly, family history, associated sonographic findings, genetic testing, and postnatal/postmortem examination findings. The importance of fetal polydactyly can be mainly elucidated by the family history and absent or associated anomalies on a specialized malformation scan. Fetal karyotyping diagnoses frequent chromosomal anomalies in about half of cases with additional malformations, and array comparative genomic hybridization may be a future means of detecting cryptic chromosomal aberrations. Syndromic disorders of monogenic origin demand a careful interdisciplinary clinical assessment for establishing a clinical diagnosis and prognosis for the outcome of the child.

show abstract

“…With the advance of non‐invasive prenatal screening for aneuploidies using cell‐free fetal DNA in maternal blood sample, there is a risk of ultrasound being considered to be less important in the first trimester. However, existing data suggest that at least 50% of malformations can be detected in a first trimester scan . Therefore, strategies providing a routine early malformation scan should be considered including the assessment for congenital contractures and fetal movement, as a significant number will already be present in the late first trimester.…”

Section: Resultsmentioning

confidence: 99%

Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Filges

Hall

2013

Prenatal Diagnosis

View full text Add to dashboard Cite

Prenatal detection rate of multiple congenital contractures is appalling. Failure of diagnosis precludes further etiologic and diagnostic workup and deprives families of making informed pregnancy choices. Standards for prenatal diagnosis are lacking, but on the basis of current knowledge and expert opinion, we propose the first guidelines for a prenatal diagnostic strategy, discuss future directions and the need for multicentric studies.

show abstract

Is a Routine Ultrasound in the Third Trimester Justified? – Additional Fetal Anomalies Diagnosed After Two Previous Unremarkable Ultrasound Examinations

Abstract: The ultrasound examination in the 3 rd trimester is of additional benefit and can detect previously unknown structural abnormalities. These findings are relevant for perinatal management and postnatal follow-up.

Cited by 22 publications

References 28 publications

Clinico-Biochemical Profile of Children with Congenital Anomalies of the Kidney and Urinary Tract: A Cross-Sectional Study

Clinico-Biochemical Profile of Children with Congenital Anomalies of the Kidney and Urinary Tract: A Cross-Sectional Study

Fetal Polydactyly

Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Contact Info

Product

Resources

About