Forehead and facial heights in Down syndrome and normal fetuses in the midtrimester of pregnancy

Objectives: To compare forehead height (FH), facial heights (FaHs) and the ratios of biparietal diameter (BPD) and femur length (FL) to these heights in midtrimester normal and Down syndrome (DS) fetuses. Methods: 150 normal and 26 DS fetuses were scanned at 15-25 weeks of gestation. At the mid-sagittal image of the fetal profile, FH, FaH, upper facial height (UFaH) and lower facial height (LFaH) were measured in millimeters with "two line distance" tool. The results were expressed as multiples of the gestation-specific normal median (MoMs) using the regression of the equation derived from normal fetuses. The ratios of BPD/UFaH, BPD/LFaH, BPD/FaH, BPD/FH, FL/UFaH, FL/LFaH, FL/FaH, FL/FH were also assessed. Results: In normal fetuses, FH and FaHs increased linearly with gestational age (GA). UFaH increased linearly from 5.2 mm at 15 weeks to 15.7 mm at 25 weeks. LFaH increased from 9.3 mm at 15 weeks to 32 mm at 25.2 weeks. FaH increased from 16 mm at 15 weeks to 39 mm at 25 weeks. FH increased from 17.7 mm at 15 weeks to 42.8 mm at 25 weeks. Only UFaH was found to be significantly smaller in DS fetuses (with a mean of 0.91 MoM, 95% CI, 0.7-1.1, p = 0.003), than in normal fetuses (1 MoM, 95% CI, 0.6-1.3). Concomitantly, none of the ratios changed with gestation and all were found to be statistically higher in DS fetuses (p < 0.05). Conclusions: UFaH, is smaller in DS fetuses compared with normal fetuses in the midtrimester of pregnancy. The ratios of BPD and FL to all heights are higher in fetuses with DS than in normal fetuses

Cell-free DNA testing: is it reliable? A case report

In this article, the authors reported the findings of a false negative case of cell-free DNA (cfDNA) testing for trisomy 21. The cfDNA test was performed due to the increased nuchal translucency during the first trimester scan. After receiving the "normal" result of the test, the patient was followed up. However, intrauterine growth retardation and ventriculomegaly were detected in the second trimester of pregnancy and fetal karyotyping revealed trisomy 21

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

BACKGROUND: The effect of in vitro fertilisation (IVF) on breast cancer risk for BRCA1/2 mutation carriers is rarely examined. As carriers may increasingly undergo IVF as part of preimplantation genetic diagnosis (PGD), we examined the impact of ovarian stimulation for IVF on breast cancer risk in BRCA1/2 mutation carriers. METHODS: The study population consisted of 1550 BRCA1 and 964 BRCA2 mutation carriers, derived from the nationwide HEBON study and the nationwide PGD registry. Questionnaires, clinical records and linkages with the Netherlands Cancer Registry were used to collect data on IVF exposure, risk-reducing surgeries and cancer diagnosis, respectively. Time-dependent Cox regression analyses were conducted, stratified for birth cohort and adjusted for subfertility. RESULTS: Of the 2514 BRCA1/2 mutation carriers, 3% (n = 76) were exposed to ovarian stimulation for IVF. In total, 938 BRCA1/2 mutation carriers (37.3%) were diagnosed with breast cancer. IVF exposure was not associated with risk of breast cancer (HR: 0.79, 95% CI: 0.46-1.36). Similar results were found for the subgroups of subfertile women (n = 232; HR: 0.73, 95% CI: 0.39-1.37) and BRCA1 mutation carriers (HR: 1.12, 95% CI: 0.60-2.09). In addition, age at and recency of first IVF treatment were not associated with breast cancer risk. CONCLUSION: No evidence was found for an association between ovarian stimulation for IVF and breast cancer risk in BRCA1/2 mutation carriers