Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol

Verberne, Eline A.; Manshande, Meindert E; Wagner-Buitenweg, Nadjah F; Elhage, Wallid; Holtsema, Hilda; Haelst, Mieke M. van

doi:10.1097/mcd.0000000000000331

Cited by 3 publications

(6 citation statements)

References 12 publications

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“…In addition to the 108 molecular diagnoses, 7 clinical diagnoses were established in this cohort. These included amniotic band syndrome, fetal methotrexate syndrome (Verberne, Dalen Meurs, et al, 2020; Verberne, Faries, et al, 2020; Verberne, Manshande, et al, 2020), VACTERL association, and oculo‐auriculo‐vertebral spectrum (OAVS), for which there is no known genetic cause. For the other clinical diagnoses (Apert syndrome, Tuberous Sclerosis, and oculoectodermal syndrome [OES]), genetic testing was negative or not yet performed.…”

Section: Resultsmentioning

confidence: 99%

“… i Previously published (Verberne, Dalen Meurs, et al, 2020; Verberne, Faries, et al, 2020; Verberne, Manshande, et al, 2020). Affected siblings with the same molecular diagnosis not included in this cohort. …”

Section: Methodsmentioning

confidence: 99%

“… a Previously published (Verberne, Dalen Meurs, et al, 2020; Verberne, Faries, et al, 2020; Verberne, Manshande, et al, 2020). …”

Section: Methodsmentioning

confidence: 99%

“…The diagnostic yield per type of genetic test was highest for single gene testing (24/86; 28%), followed by NGS gene panels (29/123; 24%) and microarray (49/247; 20%) (Figure 1D). Verberne, Faries, et al, 2020;Verberne, Manshande, et al, 2020) There was no common phenotype between individuals with the same VUS. Segregation analysis was performed for three individuals with the 5p12 deletion and one individual with the 9q22.1 and 9q22.31 duplications: these VUS were all inherited from a healthy parent.…”

Section: Diagnostic Yieldmentioning

confidence: 99%

“…T A B L E 2 (Continued)Note: Only patients for whom informed consent was obtained are included in this table.Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, atrial septal defect; Cl., classification; dn, de novo; ES, exome sequencing; F, female; GH, growth hormone; hem, hemizygous; het, heterozygous; hmz, homozygous; ID, intellectual disability; LP, likely pathogenic; M, male; mat, maternal; NGS, next-generation sequencing; P, pathogenic; pat, paternal; PDA, patent ductus arteriosus; PFO, patent foramen ovale; unk, unknown; VUS, variant of unknown significance.a Previously published(Verberne, Dalen Meurs, et al, 2020;Verberne, Faries, et al, 2020;Verberne, Manshande, et al, 2020).b Previously published(Fountain et al, 2019). Affected twin with the same molecular diagnosis not included in this cohort.…”

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confidence: 99%

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Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

Verberne

Westermann

Vries

et al. 2022

American J of Med Genetics Pt A

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Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi-annual joint pediatric-genetics clinic with a visiting clinical geneticist in the Dutch Caribbean. This retrospective study evaluates the yield of diagnostic testing and the clinical utility of a diagnosis for patients with rare diseases on these relatively isolated, resource-limited islands. A total of 331 patients that were referred to the clinical geneticist between November 2011 and November 2019 and had genetic testing were included in this study. A total of 508 genetic tests were performed on these patients. Microarray, next-generation sequencing gene panels, and single-gene analyses were the most frequently performed genetic tests. A molecularly confirmed diagnosis was established in 33% of patients (n = 108). Most diagnosed patients had single nucleotide variants or small insertions and/or deletions (48%) or copy number variants (34%). Molecular diagnostic

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“… a Previously published (Verberne, Dalen Meurs, et al, 2020; Verberne, Faries, et al, 2020; Verberne, Manshande, et al, 2020). …”

Section: Methodsmentioning

confidence: 99%

Section: Diagnostic Yieldmentioning

confidence: 99%

mentioning

confidence: 99%

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Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

Verberne

Westermann

Vries

et al. 2022

American J of Med Genetics Pt A

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Methotrexate/misoprostol

2020

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A Comparative Study between Methotrexate versus Letrozole Prior to Misoprostol in Induction of First Trimester Missed Miscarriage

Bahaa

Ahmed²,

Amen³

et al. 2022

Minia Journal of Medical Research

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Background: Miscarriage is the loss of a pregnancy before the period of viability. In the better resourced parts of the world, fetuses weighing 500 g or more or a gestational age above 24 weeks can survive although they may be handicapped. A missed miscariage is a nonviable intrauterine pregnancy that has been retained within the uterus without spontaneous abortion. Aim is to compare the synergistic effect of methotrexate versus letrozole before misoprostol for induction of first trimester missed miscarriage. Method: The study was conducted at Minia University Hospital and Eledwa General Hospital in the period from February 2021 to February 2022. The study included 199 women randomly allocated into two groups: Group (A): 99 women received letrozole (2.5 mg×3 tablets/day) + misoprostol (200 μg)/8h for 3 days], and Group (B): 100 women received [methotrexate (50 mg) im+ misoprostol (200 μg)/8h for 3 days]. Result: Both letroazole and methotrexate are effective in increasing the efficiency of misoprostol in inducing first trimester missed with a better side effects profile in the letrozole group. Conclusion: Letrozole administration prior to misorostol can be a safe and effective treatment in inducing first trimester missed miscarriage.

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Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol

Cited by 3 publications

References 12 publications

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

Methotrexate/misoprostol

A Comparative Study between Methotrexate versus Letrozole Prior to Misoprostol in Induction of First Trimester Missed Miscarriage

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