Auslander Allyn, McKean-Cowdin Roberta, Feigelson Devin, Brindopke Frederick, DiBona Melissa, Magee Kathy, Arakaki Lili, Kapoor Rijuta, Ly Stephanie, Conti David V, Rakotoarison Sylvia, Mahmoudi Fouzia, McGregor Albertina, Giron Melissa, Hernandez Angela Rose, Nguyen Thi-Hai-Duc, Mwepu Anselme, Sanchez-Lara Pedro A, Magee William
Department of Preventive Medicine, Keck School of Medicine of the University of Southern California, CA, USA.
Children's Hospital Los Angeles, CA, USA.
Cleft Palate Craniofac J. 2022 Apr;59(4_suppl2):S37-S47. doi: 10.1177/10556656211018956. Epub 2021 May 31.
The majority of research to understand the risk factors of nonsyndromic orofacial clefts (NSOFCs) has been conducted in high-income populations. Although patients with NSOFCs in low- and middle-income countries (LMICs) are at the highest risk of not receiving care, global health infrastructure allows innovative partnerships to explore the etiologic mechanisms of cleft and targets for prevention unique to these populations.
The International Family Study (IFS) is an ongoing case-control study with supplemental parental trio data designed to examine genetic, environmental, lifestyle, and sociodemographic risk factors for NSOFCs in 8 LMICs (through August 2020). Interview and biological samples are collected for each family. The interview includes demographics, family history of cleft, diet and water sources, maternal pregnancy history, and other lifestyle and environmental factors.
Seven of 8 countries are currently summarized (2012-2017) for a total of 2955 case and 2774 control families with 11 946 unique biological samples from Vietnam, Philippines, Honduras, Madagascar, Morocco, Democratic Republic of the Congo, and Nicaragua. The phenotype distribution was 1641 (55.5%) cases with cleft lip and palate, 782 (26.5%) with cleft lip (CL), and 432 (14.6%) with cleft palate (CP).
The International Family Study is the largest case set of NSOFCs with an associated biobank in LMICs currently assembled. The biobank, family, and case-control study now include samples from 8 LMICs where local health care infrastructure cannot address the surgical burden of cleft or investigate causal mechanisms. The International Family Study can be a source of information and may collaborate with local public health institutions regarding education and interventions to potentially prevent NSOFCs.
大多数旨在了解非综合征性口腔颌面部裂隙（NSOFCs）风险因素的研究是在高收入人群中开展的。尽管低收入和中等收入国家（LMICs）的NSOFCs患者得不到治疗的风险最高，但全球卫生基础设施使创新伙伴关系能够探索这些人群特有的腭裂病因机制和预防目标。
国际家庭研究（IFS）是一项正在进行的病例对照研究，配有补充性的双亲三联体数据，旨在调查8个低收入和中等收入国家（截至2020年8月）NSOFCs的遗传、环境、生活方式和社会人口学风险因素。为每个家庭收集访谈信息和生物样本。访谈内容包括人口统计学、腭裂家族史、饮食和水源、母亲怀孕史以及其他生活方式和环境因素。
目前总结了8个国家中的7个国家（2012 - 2017年）的数据，共有2955个病例家庭和2774个对照家庭，来自越南、菲律宾、洪都拉斯、马达加斯加、摩洛哥、刚果民主共和国和尼加拉瓜的11946份独特生物样本。表型分布为唇腭裂病例1641例（55.5%）、唇裂（CL）782例（26.5%）、腭裂（CP）432例（14.6%）。
国际家庭研究是目前在低收入和中等收入国家收集的与生物样本库相关的最大规模NSOFCs病例集。生物样本库、家庭以及病例对照研究现在包括来自8个低收入和中等收入国家的样本，这些国家的当地医疗保健基础设施无法应对腭裂的手术负担或调查病因机制。国际家庭研究可以成为一个信息来源，并可能与当地公共卫生机构合作开展教育和干预措施，以潜在地预防NSOFCs。
