Pregnant women are prone to iodine deficiency due to the increased need for iodine during gestation. Progress has recently occurred in establishing serum thyroglobulin (Tg) as an iodine status biomarker, but there is no accepted reference range for iodine sufficiency during pregnancy. An observational study was conducted in 164 pregnant women. At week 16 of gestation urinary iodine concentration (UIC), serum Tg, and thyroid functions were measured, and information on the type of iodine supplementation and smoking were recorded. The parameters of those who started iodine supplementation (≥150 μg/day) at least 4 weeks before pregnancy (n = 27), who started at the detection of pregnancy (n = 51), and who had no iodine supplementation (n = 74) were compared. Sufficient iodine supply was found in the studied population based on median UIC (162 μg/L). Iodine supplementation ≥150 μg/day resulted in higher median UIC regardless of its duration (nonusers: 130 μg/L vs. prepregnancy iodine starters: 240 μg/L, and pregnancy iodine starters: 205 μg/L, p < .001, and p = .023, respectively). Median Tg value of pregnancy starters was identical to that of nonusers (14.5 vs. 14.6 μg/L), whereas prepregnancy starters had lower median Tg (9.1 μg/L, p = .018). Serum Tg concentration at week 16 of pregnancy showed negative relationship (p = .010) with duration of iodine supplementation and positive relationship (p = .008) with smoking, a known interfering factor of iodine metabolism, by multiple regression analysis. Serum Tg at week 16 of pregnancy may be a promising biomarker of preconceptual and first trimester maternal iodine status, the critical early phase of foetal brain development.

The objective of this study was to evaluate the effectiveness of the measurement of maternal serum alpha-fetoprotein (MSAFP) at 16 weeks and a subsequent routine ultrasound screening at 18-20 weeks' gestation and the impact on the birth prevalence of congenital structural anomalies in an unselected pregnant population of Hungary in a prospective epidemiological study. A total of 63,794 pregnant women (representing one-sixth of the population of Hungary) were offered this screening program over 3 years (1988-90). Of the pregnant population, 75.7% (48,312) received MSAFP screening and in 81.0% (51,675), at least one ultrasound scan was performed. In the screened pregnancies, 496 craniospinal, thoraco-abdominal, urogenital and other severe major anomalies occurred; 317 were detected at 18-20 weeks (sensitivity 63.1%; specificity 100.0%; positive predictive value 100.0%). The sensitivity of ultrasound scanning was significantly higher (p < 0.05) than that of the MSAFP screening. (At the time of ultrasound scanning the MSAFP value was known.) In this study, the less serious anomalies such as hydrocele, hypospadias and undescended testicle were not systematically searched for, but the birth prevalences were calculated. The overall mid-trimester prevalence of severe plus less severe major anomalies was 2.26%. The birth prevalences of severe major anomalies were 0.57 (craniospinal), 4.36 (thoracoabdominal and urogenital) and 1.21 (other severe) per 1000. These values were lower than the mid-trimester prevalences which were 2.94, 5.20 and 2.06 per 1000, respectively. The prevalence values at the age of 1 year were also calculated (0.36, 2.21, 0.54 per 1000, respectively). We conclude that our screening program with availability of termination of pregnancy could significantly (p < 0.05) reduce the prevalence of severe major abnormalities at birth. Training programs in cardiac scanning are required.

Maternal serum alpha-fetoprotein (MSAFP) concentration values were measured in relation to maternal age and fetal sex in the 16th to 20th gestational weeks in samples taken from 9,556 pregnancies with the outcome of live, mature and healthy infants. Our results show positive significance between MSAFP concentration and maternal age (p < 0.001); we also found significantly higher AFP values in male fetuses than in female fetuses (p < 0.001). This specificity is y all probability due to the change in the physiologic AFP concentration of the pregnant woman. Considering maternal age and the new percentile AFP values, cutoff concentration values can be corrected, thus the quality of routine AFP screening can be improved. At the same time, with the application of the above parameters, a more effective selection of pregnancies at high risk for Down syndrome can be achieved.

Highlights Preeclampsia is one of the leading causes of fetomaternal morbidity and mortality  First-trimester screening for preeclampsia is feasible during routine ultrasound scan  The use of Fetal Medicine Foundation guidelines are recommended for the screening  Placental growth factor did not improve the detection rate among Hungarian pregnants  Studies are required for placental growth factor distribution in Eastern Europe

We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe ventriculomegaly. We compare this apparently autosomal recessive syndrome to VACTERL-H association, Fanconi anemia, and two other, so far unparalleled syndromes. Taking into account the absence of chromosome breaks, the associated changes of the amniotic fluid, and the renal histology, we conclude that we are dealing with a different entity.