Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy.

BACKGROUND: Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is a form of diabetes caused by heterozygous inactivating mutations in the GCK gene. Affected individuals maintain their fasting glucose levels at a higher set point (5.4-8.3 mmol/l) than the general population. Hyperglycaemia in women with Type 1 or Type 2 diabetes is known to confer increased risk of fetal congenital abnormalities. The association between GCK-MODY and congenital abnormalities, however, remains uncertain. CASE REPORT: A 35-year-old woman in her third pregnancy was diagnosed with gestational diabetes at 13 weeks' gestation (fasting blood glucose 6.0 mmol/L, 1-h blood glucose 9.2 mmol/l, 2-h blood glucose 7.3 mmol/l). The morphology scan at 19+2 weeks' gestation showed a Type III sacral agenesis. The woman elected to terminate the pregnancy. Her postpartum oral glucose tolerance test was suggestive of GCK-MODY (fasting blood glucose 7.4 mmol/l, 1-h blood glucose 9.3 mmol/l, 2-h blood glucose 7.3 mmol/l). Mutation analysis of the GCK gene identified a novel heterozygous GCK missense mutation, p.V199M, classified as likely pathogenic, providing molecular confirmation of the suspected GCK-MODY diagnosis. DISCUSSION: Sacral agenesis is a rare form of sacral abnormality affecting 0.005% to 0.1% of pregnancies. It is a subtype of the caudal regression sequence, a cardinal feature of diabetic embryopathy. This case raises the question as to whether hyperglycaemia in GCK-MODY may increase the risk of fetal caudal regression syndrome as reported in women with pre-existing diabetes mellitus. Improved diagnostic rates of GCK-MODY, and MODY registers that include pregnancy outcomes, are important to further elucidate risk of congenital abnormalities in GCK-MODY.

The external Ballard examination does not accurately assess the gestational age of infants born at home in a rural community of The Gambia.

BACKGROUND: Accurate assessment of gestational age at birth is critical to the identification of neonates at high risk. In resource-poor settings, postnatal techniques are commonly used but may be difficult to apply and have not been well validated against ultrasound in community studies. The aim of this study was to evaluate postnatal assessment of gestational age in rural Africa using the external criteria of the Ballard examination against 1st/early 2nd-trimester ultrasound and date of last menstrual period. METHOD: In a sample of women from Kiang West, The Gambia (n=80), the precision of gestational age estimates using the external Ballard examination was compared with those derived from 1st and early 2nd-trimester ultrasound examination and date of last menstrual period. RESULTS: The incidence of preterm delivery was low at 2.5%. The external Ballard examination tended to underestimate gestational age by a mean (SD) of 15.6 (10.9) days compared with that derived from ultrasound and to underestimate by 15.4 (23.1) days compared with that derived from date of last menstrual period. The differences between the methods varied with gestation. CONCLUSION: In this rural, community-born population of infants, postnatal assessment of gestational age by external Ballard examination performed poorly compared with ultrasound and last menstrual period. No reliable gestational age could be derived from its estimate and it failed to detect a significant proportion of high-risk infants. The development of an accurate but simple method of postnatally assessing gestational age specifically for use by health workers in rural Africa is required.