Is intermediate risk really intermediate? Comparison of karyotype and non-invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening.

The purpose of this study was to assess the additional contribution of karyotyping compared with genome-wide non-invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography. Karyotype results of all pregnancies undergoing invasive prenatal diagnostic testing between January 2013 and March 2022 were obtained from a large hospital-based laboratory. Pregnancies with no major structural anomalies on ultrasound (including soft markers) and an intermediate risk for T21 on maternal serum screening were included in this study. The additional contribution of karyotyping for abnormal karyotype results was calculated after excluding results that could theoretically be identified with genome-wide NIPT. Among the 511 pregnancies analyzed, 13 (2.54%) were found to have abnormal karyotype results, 9 (1.76%) of which could theoretically have been detected with genome-wide NIPT. Within the cohort, 6/263 (2.28%) of women aged 35 years and older, and 3/248 (1.20%) of women younger than 35 years had results that could have been detected with genome-wide NIPT. After excluding results detectable using genome-wide NIPT, the additional contribution of karyotyping was found as 4/502 (0.79%) for the entire cohort, 2/257 (0.77%) for women aged 35 years and older, 2/245 (0.81%) for women younger than 35 years. Of the 511 examined pregnancies at intermediate risk for T21 by maternal serum screening, genome-wide NIPT would have failed to detect 4 of 13 abnormal karyotype results. The findings hold importance in guiding couples' informed decision-making processes regarding their choice of genetic screening and diagnostic testing in case of intermediate risk for T21.

Optical coherence tomography angiography assessment of retinochoroidal microcirculation differences in preeclampsia.

BACKGROUND: To investigate microvascular changes in pregnant women with preeclampsia using optical coherence tomography angiography (OCTA) and compare the results with healthy pregnant and non-pregnant subjects. METHODS: Superficial capillary plexus (SCP), deep capillary plexus (DCP) choriocapillaris (CC) vessel density (VD) and foveal avascular zone area (FAZ), retina, retinal nerve fiber layer (RNFL), the ganglion cell layer (GCL) and the choroidal thickness were examined and compared in preeclamptic pregnant (group 1), healthy pregnant women (group 2) and non-pregnant, age-matched female controls (group 3). The correlations of the parameters with each other and with blood pressure were evaluated. RESULTS: No significant difference was found between the groups when retinal, RNFL and GCL thickness values (p> 0.05). The choroidal thickness values were significantly lower in group 1 than in group 2 (p = 0.029). The central foveal VD of the SCP and DCP was significantly lower in group 1 compared to groups 2 and 3 (p = 0.03, p< 0.01 respectively). The mean VD of the SCP was significantly higher in groups 1 and 2 than in group 3 (p = 0.01). The FAZ area was statistically significantly lower in group 3 than in group 2 (p = 0.032). The CC VD was lower in group 3 compared to the other groups in all measurements (p < 0.01).The FAZ area was positively correlated with systolic blood pressure in group 1. CONCLUSION: The use of OCTA, a non-invasive imaging technique, to assess the retinal microcirculation appears to have the potential to in the early diagnosis or follow up in preeclampsia before signs of hypertensive retinopathy.

Decorin: a possible marker for fetal growth restriction.

The aim of this study was to compare decorin (DCN) levels between pregnancies complicated by idiopathic fetal growth restriction (FGR) and uncomplicated pregnancies and to determine the relationship between DCN levels and clinical parameters. The study population consisted of two groups: control group consisted of 13 women with uncomplicated singleton pregnancies in the third trimester. Study group consisted of 14 singleton pregnancies complicated by idiopathic FGR who were admitted to the hospital for delivery in the third trimester of pregnancy. Maternal and fetal DCN levels were measured. Color Doppler flow assessments were performed. Relationship between DCN levels and clinical parameters was determined. Maternal DCN serum levels were significantly higher in complicated pregnancies by idiopathic FGR (p = 0.01). A statistically significant negative correlation was observed between maternal DCN serum levels and neonatal birth weight (r = -0.0506; p = 0.007). There was a significant correlation between umbilical artery (UA) DCN levels and UA S/D ratio (r = 0.512; p = 0.006) and UA RI (r = 0.405; p = 0.036). The risk of high DCN maternal serum levels (>7986.6 pg/mL) in pregnancy complicated by FGR was 8.25 times higher (RR = 8.25; 95% CI, 1.4-46.8). The results of our study showed that the presence of increased DCN levels in women with FGR could contribute to pathogenesis of the disease.