Skeletal dysplasias are a group of diseases characterized by bone and joint abnormalities, which can be detected during prenatal ultrasound. Next-generation sequencing has rapidly revolutionized molecular diagnostic approaches in fetuses with structural anomalies. This review studies the additional diagnostic yield of prenatal exome sequencing in fetuses with prenatal sonographic features of skeletal dysplasias. This was a systematic review by searching PubMed for studies published between 2013 and July 2022 that identified the diagnostic yield of exome sequencing after normal karyotype or chromosomal microarray analysis (CMA) for cases with suspected fetal skeletal dysplasias based on prenatal ultrasound. We identified 10 out of 85 studies representing 226 fetuses. The pooled additional diagnostic yield was 69.0%. The majority of the molecular diagnoses involved de novo variants (72%), while 8.7% of cases were due to inherited variants. The incremental diagnostic yield of exome sequencing over CMA was 67.4% for isolated short long bones and 77.2% for non-isolated cases. Among phenotypic subgroup analyses, features with the highest additional diagnostic yield were an abnormal skull (83.3%) and a small chest (82.5%). Prenatal exome sequencing should be considered for cases with suspected fetal skeletal dysplasias with or without a negative karyotype or CMA results. Certain sonographic features, including an abnormal skull and small chest, may indicate a potentially higher diagnostic yield.

Objective: We aim to investigate the practice of female genital mutilation (FGM) in Indonesia, to understand its prevalence, cultural justifications, as well as its alignment with Sustainable Development Goals (SDGs), particularly SDG 3 and 5. Theoretical Framework: The SDGs and World Health Organization (WHO) classification regarding FGM serve as basis to understand the context of this literature review. Method: We collected data through national survey data, reports from WHO, UNICEF, and UNFPA, academic journals, and policies regarding FGM in Indonesia. Results and Discussion: FGM remains widespread in Indonesia despite bans towards medical professionals to perform FGM. This may occur due to religious fatwas, cultural beliefs, and family history of FGM. This study highlights the need for culturally acceptable and appropriate interventions to further reduce the number of FGM in Indonesia. Limitation of our study includes lack of details regarding the types of FGM performed in Indonesia. Research Implications: This research serves as insights on how FGM policy and public health strategies can be improved by multiple sectors. Originality/Value: This study contributes to the literature by providing a detailed literature regarding FGM in Indonesia through the lens of SDGs, and therefore may aid in enhancing national policy and global data on FGM.