Prenatal ultrasound markers for prediction of complex gastroschisis-single-center retrospective cohort study.

OBJECTIVE: To evaluate prenatal ultrasound markers for distinguishing simple gastroschisis (sGS) from complex gastroschisis (cGS) and identifying fetuses at risk of complications. STUDY DESIGN: A retrospective cohort study analyzed 61 fetuses with isolated gastroschisis at a tertiary center from 2011 to 2021, utilizing serial ultrasounds from 14 to 35 weeks' gestation. A general linear model, quantile regression, and logistic regression assessed ultrasound markers, fetal weeks, and gastroschisis risk, yielding predictive models. RESULTS: IABL dilatation showed the highest PPV but low NPV. Non-free floating bowel loops (NFFBL) indicated the best PPV to NPV ratio. Combinations of markers yielded the highest predictive value for cGS. EABL collapsed and non-free floating bowel loops were significant, consistent risk factors. CONCLUSIONS: Prenatal ultrasounds can predict cGS risk, particularly using IABL dilatation and NFFBL as markers. Accurate assessment requires considering gestational age, qualitative symptoms, emphasizing experienced perinatologists' role and monitoring, particularly after 30 weeks of gestation.

Perinatal Outcomes of Neonates with Complex and Simple Gastroschisis after Planned Preterm Delivery-A Single-Centre Retrospective Cohort Study.

This research analysed early neonatal outcomes of complex and simple gastroschisis following planned elective preterm delivery in relation to prenatal ultrasound assessment of bowel conditions. A retrospective study of 61 neonates with prenatal gastroschisis diagnosis, birth, and management at a single tertiary centre from 2011 to 2021 showed a 96.72% survival rate with no intrauterine fatalities. Most cases (78.7%) were simple gastroschisis. Neonates with complex gastroschisis had longer hospital stays and time to full enteral feeding compared to those with simple gastroschisis-75.4 versus 35.1 days and 58.1 versus 24.1 days, respectively. A high concordance of 86.90% between the surgeon's and perinatologist's bowel condition assessments was achieved. The caesarean delivery protocol demonstrated safety, high survival rate, primary closure, and favourable outcomes compared to other reports. Prenatal ultrasound effectively evaluated bowel conditions and identified complex gastroschisis cases.

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

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.

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.

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.

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.

The ciliary chondrodysplasias represent a group of clinically and genetically heterogeneous disorders that affect skeleton development. Cilia are organelles that project from the surface of many cell types and play an important role during prenatal and postnatal human development. Cranioectodermal dysplasia (Sensenbrenner syndrome, CED) is a ciliopathy primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. To date six genes have been associated with CED: IFT122, WDR35, WDR19, IFT140, IFT43, and IFT52. Prenatal diagnosis of CED is challenging, and genetic testing can facilitate making a correct diagnosis. Here, we report on a family with two male siblings affected by CED: a 3.5 year-old patient and his 2 year-old brother. Molecular analysis of the proband at 1 year of age revealed compound heterozygous variants in WDR35: c.3G>A [p.(Met1-Ala30delinsMetfsTer4)] and c.2522A>T [p.(Asp841Val)]. Ultrasound examination during the second pregnancy revealed an increased nuchal translucency of 4.5 mm and a hypoplastic nasal bone at 12 weeks of gestation. Prenatal diagnostic testing was offered because of an increased risk for chromosomal abnormalities and recurrence risk for CED. Prenatal genetic analysis of a chorionic villus sample detected the WDR35 variants previously identified in the elder brother. This is the first report of a prenatal genetic diagnosis in CED.

Serum nitric oxide metabolites as a predictive factor of premature delivery.

UNLABELLED: In spite of medical progress in evolving diagnostic methods and clinical treatment premature delivery still remains the main problem in obstetric and perinatology. Nitric oxide (NO) is one of the factors which can be important in physiological mechanisms of placental angiogenesis and regulation of vascular tone and could be useful in predicting the risk of premature labor. AIM: The aim of this study was to establish the relation between NO concentration in serum and uterine activity before 37 weeks of gestation in pregnancy with premature delivery. Correlations between serum level of NO and hemoglobin, C- reactive protein (CRP) and total leukocyte count (TLC) were also studied. MATERIALS AND METHODS: The examined group included 47 primigravidas between 23 and 37 weeks of gestation with diagnosis of premature delivery and 26 gestational age-matched women with uncomplicated pregnancy. Serum NO concentration was determined by colorimetric method using a commercially available kit. In this assay total nitrite (nitrites + nitrates) - was analyzed as indicator of NO production. RESULTS: As compared to the control group, the maternal serum concentrations of NO in each group of women with premature delivery were lower and these differences were statistically significant (p<0.05). The lowest concentration of NO was observed in the group of patients with spontaneous uterine activity and without premature rupture of membranes (PROM) in comparison to other groups with imminent premature delivery and to the control group. The levels of hemoglobin and CRP were within the physiological range and correlated positively with the concentrations NO (r=0.635, p=0.015; r=0.484, p=0.035 respectively) in all women included in the study. CONCLUSIONS: The decreased level of NO in patients with preterm labor was not connected with subclinical infections but it may be associated with initiation of uterine contraction before 37 weeks of gestation.