Molecular analysis of 31 cases with fetal skeletal dysplasia
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Ümit Taşdemir
,
Ömer Gökhan Eyisoy
,
Murad Gezer
Abstract
Objectives
The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis.
Methods
Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study.
Results
Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7 weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7 weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined.
Conclusions
Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.
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Research ethics: The study protocol was approved by local Ethics Committee (Decision no: 51, date: 05.04.2023).
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Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
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Author contributions: The authors have accepted responsibility for the entire content of the manuscript and approved its submission.
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Competing interests: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: The raw data can be obtained on request from the corresponding author.
References
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Review
- Chorioamnionitis and respiratory outcomes in prematurely born children: a systematic review and meta analysis
- Opinion Paper
- Non-binary patients in ART: new challenges and considerations
- Corner of Academy
- KANET evaluation in patients with SARS-CoV-2
- Original Articles – Obstetrics
- Socioeconomic status as a risk factor for SARS-CoV-2 infection in pregnant women
- Social vulnerability and prenatal diagnosis
- Perinatal outcomes in pregnant women with ITP: a single tertiary center experience
- Ability of an obstetric hemorrhage risk assessment tool to predict quantitative peripartum blood loss
- Sensitive detection of hemodynamic changes after fetoscopic laser photocoagulation by assessing intraventricular pressure difference in fetuses with twin-to-twin transfusion syndrome
- Prevalence of restless legs syndrome during pregnancy and postpartum period
- Does atenolol use during pregnancy cause small for gestational age neonates? A meta-analysis
- Uterine isthmic tourniquet left in situ as a new approach for placenta previa-accreta surgery: a comparative study
- Maternal and newborn outcomes in pregnancies complicated by Guillain-Barré syndrome
- Original Articles – Fetus
- A customised fetal growth and birthweight standard for Qatar: a population-based cohort study
- Molecular analysis of 31 cases with fetal skeletal dysplasia
- Short Communication
- Current practice of ultrasound in the management of postpartum hemorrhage: a secondary analysis of a national survey
