Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018–2020: A Retrospective Analysis

To evaluate the efficacy of non-invasive prenatal screening (NIPT) for detecting fetal sex chromosome abnormalities, a total of 639 women carrying sex chromosome abnormalities were selected from 222,107 pregnant women who participated in free NIPT from April 2018 to December 2020. The clinical data, prenatal diagnosis results, and follow-up pregnancy outcomes of participants were collected. The positive predictive value (PPV) was used to analyze the performance of NIPT. Around 235 cases were confirmed with sex chromosome abnormalities, including 229 cases with sex chromosome aneuploidy (45, X (n = 37), 47, XXX (n = 37), 47, XXY (n = 110), 47, XYY (n = 42)) and 6 cases with structural abnormalities. The total incidence rate was 0.11% (235/222,107). The PPV of NIPT was 45.37% (235/518). NIPT accuracy for detecting sex chromosome polysomes was higher than that for sex chromosome monomers. The termination of pregnancy rate for fetal diagnosis of 45, X, and 47, XXY was higher than that of 47, XXX, and 47, XYY. The detection rate of fetal sex chromosome abnormalities was higher in 2018–2020 than in 2010–2012 (χ2 = 69.708, P < 2.2 × 10−16), indicating that NIPT is greatly efficient to detect fetal sex chromosome abnormalities.

Early determination of fetal sex in goat a comparison between real time PCR and ultrasonography

The point of the current study is to assess the productivity of the real time PCR and ultrasound techniques in early determination of fetal sex in Iraqi singleton pregnant goats. Our investigation has been led in Iraq, Al-Diwanya city from 10/8/2020 – 15/1/2021. The examination incorporates 45 singleton pregnant Iraqi goats, which initially inspected by ultrasound to affirm pregnancy and to decide the fetal sex depending on the restriction of the genital tubercle of the goat fetuses, after that, blood specimens had been gathered from the jugular vein of all examined does to detect fetal sex by discovery of AMLX and SRY genes in the circling cells free fetal DNA (ccffDNA) in these maternal blood specimens by utilizing real time PCR. Our outcomes showed an exceptionally high level of accuracy in real time PCR in contrast with the ultrasound strategy. The outcomes were affirmed by the true fetal sex after parturition in the inspected does. The complete symptomatic rate were 51.11% (23/45) and 97.78% (44/45) for ultrasound and PCR strategies separately. The exactness level of genuine analyzed female and male caprine kidding were 58.33% (7/12), 48.48% (16/33), and 100% (12/12), 96.97% (32/33) for ultrasound and real time PCR techniques separately. While the exactness rates of the two techniques utilized in this investigation for early caprine fetal sexing in respect to early pregnancies periods analyzed uncovered 100% (13/13), 96.3% (26/27), 100% (5/5), and 61.54% (8/13), 40.74% (11/27), 80% (4/5) in early pregnancy periods (58-62, 63-67, 68-73) days for real time PCR and ultrasound strategies individually. In conclusion our outcomes revealed a huge predominant exactness and productivity in fetal sexing in Iraqi singleton pregnant does in early development periods, with very high accuracy in real time PCR in compare to ultrasound techniques.

Determination of Fetal sex by Fetal anatomy parameters using a Fuzzy C-Mean Cluster

This paper proposes a new approach to determining the sex of the fetus using the measurement of dimensions of the head. The research attempted to use one of the techniques of fuzzy logic in the field of medicine, and here it was dealt with the visual properties designed to mix the properties of fuzzy logic (FL) and feature images. The results that some traits cannot give good results such as the results obtained from the local binary pattern (LBP) algorithm and the power and superiority of the results of hybrid filters because the ultrasound images have a special color spectrum. The results also showed the ability of the fuzzy logic proposed by using the characteristics derived from the hybrid filter to deal with the study of images and to achieve a better diagnosis of the gender of the fetus through measuring the dimensions of the head.

Longitudinal Changes In Maternal Circulating Micrornas As Potential Biomarkers of Specific Events During Healthy Pregnancy

Background: Novel high-resolution tools for pregnancy monitoring, including early detection of prenatal disorders, are needed. Changes in circulating microRNAs (c-miRNAs) during pregnancy could potentially inform about the functional status of the mother, the placenta and/or the fetus. However, whether c-miRNA profiles actually reflect distinct pregnancy-specific events at all stages remains unclear.Methods: Longitudinal large-scale RNAseq c-miRNA profiles at early, middle and late pregnancy, and after birth derived from eight women with healthy term pregnancies (n=32 plasma samples) were compared against corresponding circulating profiles derived from age-matched non-pregnant women (n=10). Data of fetal sex and growth indicators obtained during pregnancy evolution of the same women, were used to identify specific c-miRNA correlates in circulation.Results: 1449 c-miRNAs were detected in circulation in both pregnant and non-pregnant women with only 48 c-miRNAs differentially expressed relative to non-pregnant controls in at least one of the four studied stages (FDR<0.05). Surprisingly, c-miRNA subpopulations with reported prominent expression in various pregnancy-associated compartments (placenta, amniotic fluid, umbilical cord plasma and breast milk) were found collectively under-expressed in maternal circulation throughout pregnancy (p<0.05). Furthermore, we found a bias in global miRNAs expression in direct association with fetal sex right from the first trimester, in addition to a specific c-miRNA signature of fetal growth (R = 0.7, p < 0.01).Conclusion: Our results demonstrate the existence of temporal changes in c-miRNAs populations associated to distinct aspects of pregnancy, including correlates of placental function and lactation, as well as fetal gender and growth, revealing a wider potential of c-miRNAs as biomarkers of specific aspects of maternal health and fetal growth.

Adjusting growth standards for fetal sex improves correlation of small babies with stillbirth and adverse perinatal outcomes: A state-wide population study

Objective: Identify the proportion of infants reclassified if sex-specific birthweight charts were used, and if this reclassification has an impact on the correlation between birthweight centile and adverse perinatal outcome. Design: Retrospective cohort study Setting: Victoria, Australia. Population: All infants born from 2005-2015 (529,261) Methods: We applied GROW centiles, either adjusted or unadjusted for fetal sex. We compared proportions of small for gestational age (SGA, <10th centile) infants, then the populations of males considered small only by sex-specific charts and females considered small only by unadjusted charts. Main Outcome Measures: Stillbirth, combined perinatal mortality, NICU admissions, Apgars <7 at 5 minutes, emergency caesarean sections. Results: Of those <10th centile by unadjusted charts, 39.6% were male, and 60.5% female. Using sex-specific charts, 50.3% <10th centile were male and 49.7% female. 9,449 (19.2%) females that were SGA according to unadjusted charts were appropriate for gestational age (AGA,>10th-<90th centile) using sex-specific charts. These reclassified newborn females were not at increased risk of adverse outcomes compared with an AGA infant, but were at increased risk of being iatrogenically delivered for suspected growth restriction (RR 4.90, 95%CI 4.39–5.48). 8,048 male infants were reclassified as SGA by sex-specific charts (25% SGA increase). Compared with AGA infants, these reclassified male newborns were at greater risk of stillbirth (RR 1.94, 95%CI 1.30-2.90) and all other adverse perinatal outcomes. Conclusions: Sex-specific growth standards classify a new high-risk cohort of male infants as SGA, and exclude a cohort of females, whose risk is no greater than appropriately grown infants.

Sexually dimorphic patterns in maternal circulating microRNAs in pregnancies complicated by fetal growth restriction

Background Current methods fail to accurately predict women at greatest risk of developing fetal growth restriction (FGR) or related adverse outcomes, including stillbirth. Sexual dimorphism in these adverse pregnancy outcomes is well documented as are sex-specific differences in gene and protein expression in the placenta. Circulating maternal serum microRNAs (miRNAs) offer potential as biomarkers that may also be informative of underlying pathology. We hypothesised that FGR would be associated with an altered miRNA profile and would differ depending on fetal sex. Methods miRNA expression profiles were assessed in maternal serum (> 36 weeks’ gestation) from women delivering a severely FGR infant (defined as an individualised birthweight centile (IBC) < 3rd) and matched control participants (AGA; IBC = 20–80th), using miRNA arrays. qPCR was performed using specific miRNA primers in an expanded cohort of patients with IBC < 5th (n = 15 males, n = 16 females/group). Maternal serum human placental lactogen (hPL) was used as a proxy to determine if serum miRNAs were related to placental dysfunction. In silico analyses were performed to predict the potential functions of altered miRNAs. Results Initial analyses revealed 11 miRNAs were altered in maternal serum from FGR pregnancies. In silico analyses revealed all 11 altered miRNAs were located in a network of genes that regulate placental function. Subsequent analysis demonstrated four miRNAs showed sexually dimorphic patterns. miR-28-5p was reduced in FGR pregnancies (p < 0.01) only when there was a female offspring and miR-301a-3p was only reduced in FGR pregnancies with a male fetus (p < 0.05). miR-454-3p was decreased in FGR pregnancies (p < 0.05) regardless of fetal sex but was only positively correlated to hPL when the fetus was female. Conversely, miR-29c-3p was correlated to maternal hPL only when the fetus was male. Target genes for sexually dimorphic miRNAs reveal potential functional roles in the placenta including angiogenesis, placental growth, nutrient transport and apoptosis. Conclusions These studies have identified sexually dimorphic patterns for miRNAs in maternal serum in FGR. These miRNAs may have potential as non-invasive biomarkers for FGR and associated placental dysfunction. Further studies to determine if these miRNAs have potential functional roles in the placenta may provide greater understanding of the pathogenesis of placental dysfunction and the differing susceptibility of male and female fetuses to adverse in utero conditions.