Adequate antenatal care and ethnicity affect preterm birth in pregnant women living in the tropical rainforest of Suriname.

BACKGROUND: Adequate antenatal care (ANC) services are key for early identification of pregnancy related risk factors and maintaining women's health during pregnancy. This study aimed to assess the influence of ANC provided by the Medical Mission Primary Health Care Suriname (MMPHCS) and of ethnicity on adverse birth outcomes in Tribal and Indigenous women living in Suriname's remote tropical rainforest interior. METHOD: From April 2017 to December 2018 eligible Tribal and Indigenous women with a singleton pregnancy that received ANC from MMPHCS were included in the study. Data on low birth weight (LBW < 2500 g), preterm birth (PTB < 37 weeks), low Apgar score (< 7 at 5 min), parity (≤1 vs. > 1) and antenatal visits utilization (≥8 vs. < 8) in 15 interior communities were retrospectively analyzed using descriptive statistics, crosstabs and Fisher's exact tests. RESULTS: A total of 204 women were included, 100 (49%) were Tribal, mean age was 26 ± 7.2 years and 126 women (62%) had 8 or more ANC visits. One participant had a miscarriage; 22% had adverse birth outcomes: 16 (7.9%) LBW and 30 (14.8%) PTB; 7 women had a child with both PTB and LBW; 5 women had stillbirths. None of the newborns had low Apgar scores. Maternal age, ethnicity, ANC and parity were associated with PTB (χ2 = 8,75, p = 0.003, χ2 = 4,97, p = 0.025, χ2 = 17,45, p < 0.001, χ2 = 11,93, p < 0.001 respectively). CONCLUSION: Despite an almost 100% study adherence over one fifth of women that received ANC in the interior of Suriname had adverse birth outcomes, in particular PTB and LBW. Younger nulliparous Indigenous women with less than the recommended 8 ANC visits had a higher risk for PTB. The rate of adverse birth outcomes highlights the need for further research to better assess factors influencing perinatal outcomes and to put strategies in place to improve perinatal outcomes. Exposure assessment of this sub-cohort and neurodevelopment testing of their children is ongoing and will further inform on potential adverse health effects associated with environmental exposures including heavy metals such as mercury and lead.

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.

BACKGROUND: Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, generalized lipodystrophy, insulin resistance, metabolic complications and skeletal features like stunted growth, mandibular and clavicular hypoplasia and acro-osteolysis of the distal phalanges. MADB is caused by reduced activity of the enzyme zinc metalloprotease ZMPSTE24 resulting from compound heterozygous or homozygous mutations in ZMPSTE24. METHODS: In 2012, and again in 2018, eight related patients from the remote tropical rainforest of inland Suriname were analysed for dysmorphic features. DNA analysis was performed and clinical features were documented. We also analysed all previously reported genetically confirmed MADB patients from literature (n = 12) for their clinical features. Based on the features of all cases (n = 20) we defined major criteria as those present in 85-100% of all MADB patients and minor criteria as those present in 70-84% of patients. RESULTS: All the Surinamese patients are of African descent and share the same homozygous c.1196A > G, p.(Tyr399Cys) missense variant in the ZMPSTE24 gene, confirming MADB. Major criteria were found to be: short stature, clavicular hypoplasia, delayed closure of cranial sutures, high palate, mandibular hypoplasia, dental crowding, acro-osteolysis of the distal phalanges, hypoplastic nails, brittle and/or sparse hair, mottled pigmentation, atrophic and sclerodermic skin, and calcified skin nodules. Minor criteria were (generalized or partial) lipoatrophy of the extremities, joint contractures and shortened phalanges. Based on our detailed clinical observations, and a review of previously described cases, we propose that the clinical diagnosis of MADB is highly likely if a patient exhibits ≥4 major clinical criteria OR ≥ 3 major clinical criteria and ≥ 2 minor clinical criteria. CONCLUSIONS: We report on eight related Surinamese patients with MADB due to a homozygous founder mutation in ZMPSTE24. In low-income countries laboratory facilities for molecular genetic testing are scarce or lacking. However, because diagnosing MADB is essential for guiding clinical management and for family counselling, we defined clinical diagnostic criteria and suggest management guidelines.