Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

Savarirayan, Ravi; Rossiter, Judith Pratt; Hoover‐Fong, Julie; Irving, Melita; Bompadre, Viviana; Goldberg, Michael J.; Bober, Michael B.; Cho, Tae-Joon; Kamps, Shawn E.; Mackenzie, William G.; Raggio, Cathleen; Spencer, Samantha S; White, Klane K.

doi:10.1016/j.ajog.2018.07.017

Cited by 34 publications

(58 citation statements)

References 56 publications

(54 reference statements)

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“…Abnormal pelvic anatomy and spine deformities might predispose for complications in pregnancy of females with achondroplasia . Nevertheless, there are surprisingly few studies investigating management of pregnancy in achondroplasia.…”

Section: Discussionmentioning

confidence: 99%

“…We found one study reporting on obstetric and gynecologic issues in women with chondrodystrophies, but the study was not explicitly focusing on achondroplasia . Consensus‐based best practice guidelines for prenatal evaluation and delivery of patients with skeletal dysplasia have recently been published . As a consequence of the abnormal pelvic anatomy, the guidelines recommend Cesarean delivery for most skeletal dysplasia disorders, including achondroplasia …”

Section: Discussionmentioning

confidence: 99%

“…Abnormal pelvic anatomy and spine deformities might predispose for complications in pregnancy of females with achondroplasia. 45,76,77 Nevertheless, there are surprisingly few studies investigating management of pregnancy in achondroplasia. We found one study reporting on obstetric and gynecologic issues in women with chondrodystrophies, but the study was not explicitly focusing on achondroplasia.…”

Section: Medical Complications Health Characteristics and Psychosomentioning

confidence: 99%

“…37 Consensus-based best practice guidelines for prenatal evaluation and delivery of patients with skeletal dysplasia have recently been published. 45 As a consequence of the abnormal pelvic anatomy, the guidelines recommend Cesarean delivery for most skeletal dysplasia disorders, including achondroplasia. 45 A high prevalence of chronic pain (64%-75%) in adults with achondroplasia was reported in two relatively large studies, 15,18 corresponding with other publications included in this review.…”

Section: Medical Complications Health Characteristics and Psychosomentioning

confidence: 99%

“…45 As a consequence of the abnormal pelvic anatomy, the guidelines recommend Cesarean delivery for most skeletal dysplasia disorders, including achondroplasia. 45 A high prevalence of chronic pain (64%-75%) in adults with achondroplasia was reported in two relatively large studies, 15,18 corresponding with other publications included in this review. 24,25,30 Physical health declined much earlier than in the average-statured population, often starting in the fourth decade.…”

Section: Medical Complications Health Characteristics and Psychosomentioning

confidence: 99%

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Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

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This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice. K E Y W O R D S achondroplasia, adults, health-related quality of life, health status, medical complications, review

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Medical Complications Health Characteristics and Psychosomentioning

confidence: 99%

Section: Medical Complications Health Characteristics and Psychosomentioning

confidence: 99%

Section: Medical Complications Health Characteristics and Psychosomentioning

confidence: 99%

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Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

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Maternal Genetic Disorders That Affect Fetal Health

Blakemore

2021

Genetic Disorders and the Fetus

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Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Li,

Jin,

Liu

et al. 2024

J of Clinical Ultrasound

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ObjectiveTo analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD).MethodsClinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021.ResultsA total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28/40), with 92.8% (26/28) being single‐gene disorders due to mutations in FGFR3, COL1A1, COL1A2, EVC2, FLNB, LBR, and TRPV4 genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3 weeks, respectively (p < 0.05), with no significant difference in femoral shortening between the three groups (p > 0.05). Of the OI cases, 5 out of 12 had a family history.ConclusionShort limb deformity is the most prevalent phenotype of SD. When fetal SD is suspected, detailed ultrasound screening should be conducted, combined with GA at initial diagnosis, family history, and molecular evidence, to facilitate more accurate diagnosis and enhance prenatal counseling and perinatal management.

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Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

Abstract: Consensus-based best practice guidelines are provided as a minimum of standard care to minimize associated health risks, and improve clinical outcomes for patients with skeletal dysplasia.

Cited by 34 publications

References 56 publications

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Maternal Genetic Disorders That Affect Fetal Health

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

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