Maxillary gap at 11–13 weeks' gestation: marker of cleft lip and palate

Chaoui, R.; Oròsz, G.; Heling, K. S.; Sarut-Lopez, A.; Nicolaides, Kypros H.

doi:10.1002/uog.15675

Cited by 70 publications

(78 citation statements)

References 22 publications

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“…TTTS and certain structural anomalies may be anticipated by the presence of discordant NT and other signs on the 11-13-week scan. (46)(47)(48)(49) As high-quality ultrasonography is readily available, early detection of these treatable conditions allows advanced planning of therapy, which is particularly useful with a proctor who is based overseas. There is a smooth referral process that ensures rapid transfer of care of complicated MC twins from clinics in the private sector to NUH.…”

Section: Discussionmentioning

confidence: 99%

Rapid initiation of fetal therapy services with a system of learner-centred training under proctorship: the National University Hospital (Singapore) experience

Gosavi

Vijayakumar

et al. 2017

smedj

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INTRODUCTION Management of complicated monochorionic twins and certain intrauterine structural anomalies is a pressing challenge in communities that still lack advanced fetal therapy. We describe our efforts to rapidly initiate selective feticide using radiofrequency ablation (RFA) and selective fetoscopic laser photocoagulation (SFLP) for twin-to-twin transfusion syndrome (TTTS), and present the latter as a potential model for aspiring fetal therapy units. METHODSFive pregnancies with fetal complications were identifi ed for RFA. Three pregnancies with Stage II TTTS were selected for SFLP. While RFA techniques utilising ultrasonography skills were quickly mastered, SFLP required stepwise technical learning with an overseas-based proctor, who provided real-time hands-off supervision.RESULTS All co-twins were live-born following selective feticide; one singleton pregnancy was lost. Fetoscopy techniques were learned in a stepwise manner and procedures were performed by a novice team of surgeons under proctorship. Dichorionisation was completed in only one patient. Five of six twins were live-born near term. One pregnancy developed twin anaemia-polycythaemia sequence, while another was complicated by co-twin demise.DISCUSSION Proctor-supervised directed learning facilitated the rapid provision of basic fetal therapy services by our unit. While traditional apprenticeship is important for building individual expertise, this system is complementary and may benefi t other small units committed to providing these services.

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Section: Discussionmentioning

confidence: 99%

Rapid initiation of fetal therapy services with a system of learner-centred training under proctorship: the National University Hospital (Singapore) experience

Gosavi

Vijayakumar

et al. 2017

smedj

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“…The Fetal Medicine Foundation and associated research groups, often trained by the Fetal Medicine Foundation, have developed algorithms/markers used in daily clinical practice at 11–13 weeks to detect high-risk populations for an adverse pregnancy outcome such as fetal defects, chromosomal abnormalities, premature birth, and pre-eclampsia [4-10, 12, 13, 15-18]. Implementing those, we have learned that it is always better in a clinical setting to collect and combine all valid available information to reduce false positive rates and increase detection rates.…”

Section: Discussionmentioning

confidence: 99%

“…In these fetuses the PMD must still be measured including the virtually interrupted portion continuously to the front of the hyperechogenic part of the maxilla. This is necessary to reduce the impact of artefacts created by the insonation angle and ossified structures positioned proximally to the transducer as described by Chaoui et al [12]. The delta values of PMD in fetuses with isolated CLP and normal controls were calculated and compared.…”

Section: Methodsmentioning

confidence: 99%

“…1). Artefacts can create virtual interruptions of up to 1.5 mm [12]. In these fetuses the PMD must still be measured including the virtually interrupted portion continuously to the front of the hyperechogenic part of the maxilla.…”

Section: Methodsmentioning

confidence: 99%

“…Recently, Chaoui et al [12] proposed the maxillary gap sign as a marker for CLP using this cross-section.…”

Section: Introductionmentioning

confidence: 99%

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Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11–13 Weeks

Lachmann¹,

Schilling²,

Brückmann³

et al. 2017

Fetal Diagn Ther

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Objective: To evaluate the maxillary gap sign and describe markers for the first-trimester diagnosis of isolated cleft lip and palate (CLP) at 11–13 weeks. Methods: Firstly, this was a prospective assessment of 1,087 fetuses including 5 cases of isolated CLP in 2 centers which were referred for the 11–13 weeks scan. Secondly, intra- and interobserver variability of the maxillary gap sign was evaluated for observers R.L. and A.B. in 2 sessions (affected cases vs. 50 normal fetuses in each session) to reduce the bias of different ultrasound manufacturer visualizations (Philips, GE). Thirdly, the palatino-maxillary diameter (PMD) was examined in stored images, DICOM loops and volumes of the midsagittal and parasagittal view of the fetal head and brain at 11⁺⁰–13⁺⁶ weeks of gestation from 5 fetuses with isolated CLP and 302 consecutively assessed normal controls. The PMD values in fetuses with isolated CLP and normal controls were compared. Results: Firstly, 5 out of 6 referred pregnancies with isolated CLP were detected prospectively using the midsagittal view for measurement of nuchal translucency due to an abnormal appearance. One out of 6 patients with isolated CLP declined the 11–13 weeks scan. Secondly, intra- and interobserver variability showed no false positive cases; all cases with isolated CLP were identified by both sonographers; however, in 2 cases the maxillary gap sign was doubtful. Therefore, thirdly, we developed the PMD measurement which increased significantly with crown-rump length (CRL) from respective mean values at CRL of 45 mm to 4.66 mm and to 8.95 mm at CRL of 84 mm. In the CLP group, the PMD was below the 5th percentile of the control group in 4 out of 5 (80%) cases. Conclusions: The midsagittal view for measurement of nuchal translucency shows a high reproducibility regarding abnormal views for maxillary gap sign. In the midsagittal view of the fetal head, face, and brain at 11–13 weeks, the majority of fetuses with isolated CLP have a measurable abnormality in addition, the PMD.

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Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

Hinreiner¹,

Wieczorek

Mueller

et al. 2018

American J of Med Genetics Pt C

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Holoprosencephaly (HPE) has been defined as a distinct clinical entity with characteristic facial gestalt, which may-or may not-be associated with the true brain malformation observed postmortem in autopsy or in pre- or postnatal imaging. Affected families mainly show autosomal dominant inheritance with markedly reduced penetrance and extremely broad clinical variability even between mutation carriers within the same families. We here present advances in prenatal imaging over the last years, increasing the proportion of individuals with HPE identified prenatally including milder HPE forms and more frequently allowing to detect more severe forms already in early gestation. We report the results of diagnostic genetic testing of 344 unrelated patients for HPE at our lab in Germany since the year 2000, which currently with the application of next generation sequencing (NGS) panel sequencing identifies causal mutations for about 31% (12/38) of unrelated individuals with normal chromosomes when compared to about 15% (46/306) using conventional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA). More comprehensive genetic testing by our in house NGS panel sequencing of 10 HPE associated genes (MiSeq™ and NextSeq™500, Illumina, Inc., San Diego, CA) not only allowed to include genes with smaller contribution to the phenotype, but may also unravel additional low frequency or more common genetic variants potentially contributing to the observed large intrafamiliar variability and may ultimately guide our understanding of the individual clinical manifestation of this complex developmental disorder.

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Maxillary gap at 11–13 weeks' gestation: marker of cleft lip and palate

Abstract: ABSTRACT

Cited by 70 publications

References 22 publications

Rapid initiation of fetal therapy services with a system of learner-centred training under proctorship: the National University Hospital (Singapore) experience

Rapid initiation of fetal therapy services with a system of learner-centred training under proctorship: the National University Hospital (Singapore) experience

Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11–13 Weeks

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

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