<scp>ISUOG</scp> Practice Guidelines: performance of fetal magnetic resonance imaging

Prayer, Daniela; Malinger, G.; Brugger, P. C.; Cassady, Christopher I.; Catte, Luc De; Keersmaecker, B. De; Fernandes, G. L.; Glanc, Phyllis; Gonçalves, L. F.; Gruber, G.M.; Laifer-Narin, Sherelle; Lee, W; Millischer, A.; Molho, M.; Neelavalli, Jaladhar; Platt, Lawrence D.; Pugash, D.; Ramaekers, P.; Salomon, L. J.; Sanz, María; Timor‐Tritsch, I. E.; Tutschek, B.; Twickler, Diane M.; Weber, Michael; Ximenes, R.; Raine‐Fenning, Nick

doi:10.1002/uog.17412

Cited by 172 publications

(178 citation statements)

References 32 publications

(41 reference statements)

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“…In addition to US, magnetic resonance imaging (MRI) may be very relevant for this condition, due to its high soft tissue resolution, large field of view, nonionizing radiation, and nonrestriction by fetal position and amniotic fluid . Although several studies have been conducted on the accuracy of US and MRI for the detection of fetal anomalies, there is no such study on the accuracy of MRI in determining the type of cleft .…”

Section: Introductionmentioning

confidence: 99%

Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

et al. 2019

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Objective This study aims to evaluate the accuracy of magnetic resonance imaging (MRI) in diagnosing orofacial clefts and proposes specific signs for determining the type of cleft. Methods Pregnant women in whom fetal facial malformations are suspected by ultrasonography (US) underwent 1.5 T MRI. The accuracy of the prenatal US and MRI diagnosis was compared with the postnatal findings. Results A total of 71 fetuses were included in the final analysis, which comprised of 35 cases of isolated cleft lip, six cases of cleft lip and alveolus, 21 cases of cleft lip and palate, four cases of isolated cleft palate, and five normal fetuses. MRI was more sensitive than US (MRI 100%, US 77.5%; Fisher's exact test: MRI vs US P=0.000). The accuracy of MRI for all types was 100%. Specific signs (Inverted T, L/anti‐L, U, and “Notch” signs) were proposed, indicating the normal hard, unilateral cleft, bilateral cleft, and cleft soft palates, respectively, which can facilitate the identification of different types of cleft palates. Conclusion MRI can accurately diagnose the type of cleft based on typical signs, which can serve as a definite diagnostic modality and an effective supplement of US.

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Section: Introductionmentioning

confidence: 99%

Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

et al. 2019

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“…Genital and renal anomalies are involved in CS, thus corroborating our data. This point enforces the need for a complete morphological fetal assessment by MRI …”

Section: Discussionmentioning

confidence: 82%

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals

et al. 2019

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“CHARGE syndrome” (CS) is a multifaceted syndrome associated with a poor prognosis. The prenatal diagnosis remains challenging especially as the fetal anomalies that may evoke suspicion of CS are not comprehensively described. Objective This study aims to identify the anomalies in MRI with suspected CHARGE syndrome and to propose a possible standardization in the image‐based prenatal diagnosis of CS. Methods This was a retrospective study of 26 fetuses who underwent MRI and had a confirmed diagnosis of CS, as proven by histopathological and/or neonatal examinations and/or the presence of the CHD7 gene mutation. Results The three most frequent MRI anomalies confirmed at histopathological and/or neonatal examinations were arhinencephaly in 100% (26 of 26), dysplasia of the semicircular canals agenesis (SCA) in 100% (24 of 24), and posterior fossa anomalies in 100% (22 of 22). Our study also revealed short petrous bones with a particular triangular shape in 24 of 24 cases of SCA. Other relevant findings included external ear anomalies in 36% (9 of 25), cleft lip and palate (9 of 9), ventriculomegaly (VMG) (6 of 6), short corpus callosum (3 of 3), and ocular asymmetry in 36.6% (4 of 11). Conclusion Our study emphasizes the interest of fetal MRI in the diagnosis of CS with an adapted knowledge of semiology.

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“…For each woman, the following prenatal phenotypic features of interest were recorded: Fetal cardiac anomalies: International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) and American Heart Association (AHA) guidelines Fetal hypo/aplastic thymus: Prenatal diagnosis was made via fetal echocardiography or fetal MRI as described by the ISUOG Fetal craniofacial malformations: Prenatal diagnosis was made as described by the Fetal Medicine Foundation (FMF) and Mak et al Fetal urinary abnormalities: Prenatal diagnosis was made as described by the FMF and Hindryckx et al Fetal intrauterine growth restriction (IUGR): IUGR neonates were defined as those with birth weight below the third percentile.…”

Section: Methodsmentioning

confidence: 99%

DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

2019

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Objective The aim of the study was to assess genotype‐phenotype correlation of prenatally diagnosed fetal DGS and dup22q11 syndrome by fetal molecular genetic analysis, fetal ultrasound, and/or MRI. Methods In this retrospective consecutive case series, pregnant women were screened for fetal anomalies during a period of 10 years. Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: cardiac anomalies, hypo/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype‐phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and dup22q11 syndrome. Results Fetal genotypes of deletions or duplications in proximal clusters of LCR22s (A‐B) were associated with fetal cardiac anomalies in combination with hypo/aplastic thymus and craniofacial malformations, suggesting a correlation with deleted HIRA. TOF associated with aplastic thymus in combination with renal defects indicated a relevant correlation with TBX1 deletion. Deletions in central LCR22s (B‐D) with the loss of CRKL supposed a trend of genotype‐phenotype correlation with fetal urinary abnormalities. Conclusion Genotype‐phenotype correlation might improve prenatal diagnosis of fetal DGS and dup22q11 syndrome. Hence, prenatal screening and counseling is highly enhanced by a combination of fetal molecular genetic analysis, fetal ultrasound, and/or MRI. The implications of these findings remain to be explored.

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ISUOG Practice Guidelines: performance of fetal magnetic resonance imaging

Cited by 172 publications

References 32 publications

Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals

DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

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