Fetal growth restriction (FGR) is one of the most formidable challenges in present-day antenatal care. Pathological fetal growth is a well-known factor of not only in utero demise in the third trimester, but also postnatal morbidity and unfavorable developmental outcomes, including long-term sequalae such as metabolic diseases, diabetic mellitus or hypertension. In this review, the authors present the current state of knowledge about the genetic disturbances responsible for FGR diagnosis, divided into fetal, placental and maternal causes (including preeclampsia), as well as their impact on prenatal diagnostics, with particular attention on chromosomal microarray (CMA) and noninvasive prenatal testing technique (NIPT).
The COVID-19 pandemic outbreak influenced general and mental health worldwide. The objective of this study was to assess the anxiety level during the COVID-19 pandemic among pregnant women and compare it between COVID-infected and non-infected groups. We prospectively assessed the daily routine and anxiety level using a bespoke questionnaire and GAD-7 scale validated for pregnant women. With logistic regression, we established possible risk factors of generalized anxiety disorder spectrum and main causes of concern. The dataset included 439 responders of our survey. Of which, 21% had COVID-19 infection during pregnancy; 38% were screened for possible generalized anxiety disorder and the proportion was higher in women who suffered from COVID-19 (48% vs. 35%, p = 0.03). Pre-pregnancy anxiety or depression diagnosis and intentional social contact avoidance increased the risk of anxiety (aOR 3.4 and 3.2). Fetal wellbeing was the main concern for 66% of the responders. The COVID-19 pandemic and related restrictions substantially altered daily lives of pregnant women, exaggerating the prevalence of anxiety compared with the pre-COVID-19 studies (38% vs. 15%). COVID-19 infection during pregnancy was associated with increased levels of generalized anxiety scores. Patient-tailored psychological support should be a mainstay of comprehensive antenatal medical care in order to avoid anxiety- and stress-related complications.
The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.2% (2010/7400), including 71.2% (1431/2010) of numerical aberrations and 28.8% (579/2010) of structural aberrations. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 6.8% (505/7400) and 0.7% (57/7400) for variants of unknown clinical significance. The detection rate of clinically significant submicroscopic CNVs was 7.9% (334/4204) for fetuses with structural anomalies, 5.4% (18/336) in AMA, 3.1% (22/713) in the group of abnormal serum screening and 6.1% (131/2147) in other indications. Using the aCGH method, it was possible to assess the frequency of pathogenic chromosomal aberrations, of likely pathogenic and of uncertain clinical significance, in the groups of cases with different indications for an invasive test.
Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.
Pregnancy is a well-known factor for vaccine hesitancy and immunization remains the most effective form of prevention against coronavirus disease (COVID-19) related complications. The objective was to estimate vaccine uptake and hesitancy rate, characteristics, and factors contributing to a decision-making process among pregnant and postpartum individuals. This was a prospective cross-sectional study on 1033 pregnant (54.1%) and postpartum (45.9%) women conducted between December 2021 and March 2022 in a tertiary center for maternal–fetal medicine. Logistic regression was used to assess characteristics related to the vaccination decision process. Among responders, 74% were vaccinated and 26% were hesitant (9% planning to vaccinate and 17% totally opposed). Only 59.8% were offered a vaccine by healthcare professionals. Women with higher levels of education (OR 2.26, p < 0.0001), who received positive feedback about vaccination (OR 2.74, p = 0.0172), or were informed about COVID-19 complications in pregnancy (OR 2.6, p < 0.0001) were most likely to accept the vaccination. Hesitancy was associated with multiparity (≥3, OR 4.76, p = 0.006), worse educational status (OR 2.29, p < 0.0001), and lack of previous COVID-19 infection (OR 1.89, p < 0.0001). The most common reason for rejection was insufficient safety data (57%). Understanding factors behind vaccination status is crucial in lowering complications in mothers and newborns and targeted action may facilitate the uptake.
Background: Preeclampsia occurs more often in dichorionic than in monochorionic twin pregnancy. We hypothesize that serum concentrations of biomarkers: placental growth factor (PlGF), serum soluble fms-like tyrosine kinase-1 (sFlt-1), and endoglin (Eng) differ between monochorionic and dichorionic twin pregnancies. Methods: A prospective observational study including 43 monochorionic and 36 dichorionic twin gestation was conducted. Blood samples were collected twice from all participants: between 11 + 0 and 13 + 6 and between 32 + 0 and 34 + 0 weeks of gestation. PlGF, sFlt-1 and Eng were measured using immnunoenzymatic assays. Results: We found a significantly higher concentration of sFlt-1 in dichorionic in comparison to monochorionic pregnancies in both the first and third trimesters. PlGF and sEng levels did not differ between mono- and dichorionic gestation in both study periods. sFlt-1 level was related to twin gestation chorionicity, while PlGF expression was not. PlGF, sFlt-1 and sEng concentrations increased significantly during gestation and were much higher in the third trimester compared to the values measured in the first trimester. Conclusions: Angiogenic biomarkers expression differ between dichorionic and monochorionic twin pregnancy. The sFlt-1 level is related to chorionicity of a twin gestation.