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PURPOSE Recent national guidelines encourage a trial of labor after cesarean (TOLAC) as a means of increasing vaginal births after cesarean (VBACs) and decreasing the high US cesarean birth rate and its consequences (2010 National Institute of Health Consensus Statement and American College of Obstetricians and Gynecologists revised guideline). A birthing center serving Amish women in Southwestern Wisconsin offered an opportunity to look at the effects of local culture and practices that support vaginal birth and TOLAC. This study describes childbirth and perinatal outcomes during a 17-year period in LaFarge, Wisconsin. METHODSWe undertook a retrospective analysis of the records of all women admitted to the birth center in labor. Main outcome measures include rates of cesarean deliveries, TOLAC and VBAC deliveries, and perinatal outcomes for 927 deliveries between 1993 and 2010. RESULTSThe cesarean rate was 4% (35 of 927), the TOLAC rate was 100%, and the VBAC rate was 95% (88 of 92). There were no cases of uterine rupture and no maternal deaths. The neonatal death rate of 5.4 of 1,000 was comparable to that of Wisconsin (4.6 of 1,000) and the United States (4.5 of 1,000).CONCLUSIONS Both the culture of the population served and a number of factors relating to the management of labor at the birthing center have affected the rates of cesarean delivery and TOLAC. The results of the LaFarge Amish study support a low-technology approach to delivery where good outcomes are achieved with low cesarean and high VBAC rates. Ann Fam Med 2012;10:530-537. doi:10.1370/afm.1403. INTRODUCTIONT he cesarean rate in the United States has risen from 5.5% in 1970 to 16.5% in 1980 1 to 21% in 1996 to 32.9% in 2009. 2,3 A 2011 study calculates that if trends continue, the 2020 cesarean rate will be 56.2%. 4 The 2007 primary cesarean rate was 23.4%. 5 The vaginal birth after cesarean (VBAC) rate-the percentage of pregnant women who give birth vaginally after a previous cesarean-has fallen from a high of 28.3% in 1996 1 to 8.5% in 2006. 6 The World Health Organization (WHO) and Healthy People 2020 have suggested the ideal cesarean rate should be around 15%. 7,8 The 2010 National Institutes of Health consensus conference on VBAC highlighted high-grade evidence that maternal mortality risk is decreased by VBAC compared with a repeat cesarean (3.8 vs 13.4 of 100,000).2 Data suggest decreasing the primary cesarean delivery rate and increasing the VBAC rate as key strategies to decrease the US cesarean rate. 9Amish communities ascribe religious and cultural value to childbearing. 10,11 Contraception, including sterilization, may be prohibited. 10Advanced maternal age and grand multiparity are common. Amish women of Southwest Wisconsin generally give birth at home attended by an unlicensed birth attendant, mother, mother-in-law, or neighbor. Formal education for men and women is through 8th grade, and women do not work outside the home. Amish culture prohibits electricity, telephone service, and car ownership, leading to delays ...

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Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting for ~50% of cases worldwide. The apparent ‘missing heritability’ in OCA is well described, with ~25–30% of clinically diagnosed individuals lacking two clearly pathogenic variants. Here we undertook empowered genetic studies in an extensive multigenerational Amish family, alongside a review of previously published literature, a retrospective analysis of in-house datasets, and tyrosinase activity studies. Together this provides irrefutable evidence of the pathogenicity of two common TYR variants, p.(Ser192Tyr) and p.(Arg402Gln) when inherited in cis alongside a pathogenic TYR variant in trans. We also show that homozygosity for the p.(Ser192Tyr)/p.(Arg402Gln) TYR haplotype results in a very mild, but fully penetrant, albinism phenotype. Together these data underscore the importance of including the TYR p.(Ser192Tyr)/p.(Arg402Gln) in cis haplotype as a pathogenic allele causative of OCA, which would likely increase molecular diagnoses in this missing heritability albinism cohort by 25–50%.

Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age without clinical sequelae, but are at increased risk for metabolic decompensation during pregnancy, delivery and postpartum period. We describe the care of an Amish woman with PA during her first pregnancy and delivery.