Search

Introduction: Invasive prenatal testing with chromosomal microarray analysis after first-trimester screening is a relevant option but there is still debate regarding the indications. Therefore, we evaluated the prevalence of numerical chromosomal aberrations detected by classic karyotype and clinically relevant copy number variants (CNVs) in prenatal samples using array comparative genomic hybridization (aCGH) stratified to NT thickness: 4.5 mm, and by the presence/absence of associated structural anomalies detected by ultrasonography. Materials and Methods: Retrospective cohort study carried out at two tertiary Polish centers for prenatal diagnosis (national healthcare system) in central and south regions from January 2018 to December 2021. A total of 1746 prenatal samples were received. Indications for invasive prenatal testing included high risk of Down syndrome in the first-trimester combined test (n = 1484) and advanced maternal age (n = 69), and, in 193 cases, other reasons, such as parental request, family history of congenital defects, and genetic mutation carrier, were given. DNA was extracted directly from amniotic fluid (n = 1582) cells and chorionic villus samples (n = 164), and examined with classic karyotype and aCGH. Results: Of the entire cohort of 1746 fetuses, classical karyotype revealed numerical chromosomal aberrations in 334 fetuses (19.1%), and aCGH detected CNV in 5% (n = 87). The frequency of numerical chromosomal aberrations increased with NT thickness from 5.9% for fetuses with NT < p95th to 43.3% for those with NT > 4.5 mm. The highest rate of numerical aberrations was observed in fetuses with NT > 4.5 mm having at least one structural anomaly (50.2%). CNVs stratified by NT thickness were detected in 2.9%, 2.9%, 3.5%, 4.3%, 12.2%, and 9.0% of fetuses with NT < 95th percentile, 95th percentile–2.9 mm, 3.0–3.4 mm, 3.5–3.9 mm, 4.0–4.5 mm, and >4.5 mm, respectively. After exclusion of fetuses with structural anomalies and numerical aberrations, aCGH revealed CNVs in 2.0% of fetuses with NT < 95th percentile, 1.5% with NTp95–2.9 mm, 1.3% with NT 3.0–3.4 mm, 5.4% with NT 3.5–3.9 mm, 19.0% with NT 4.0–4.5 mm, and 14.8% with NT > 4.5 mm. Conclusions: In conclusion, our study indicates that performing aCGH in samples referred to invasive prenatal testing after first-trimester screening provides additional clinically valuable information over conventional karyotyping, even in cases with normal NT and anatomy. [ABSTRACT FROM AUTHOR]

Objectives: The Polish criteria for "intrauterine death" include fetal demise after 22 weeks of gestation, weighing > 500 g and body length at least 25 cm, when the gestational age is unknown. The rate of fetal death in Poland in 2015 is 3:10,000. In 2020, 1,231 stillbirths were registered. Material and methods: An analysis using 142,662 births in the period between 2015--2020 in 11 living in Poland. The first subgroup was admitted as patients > 22 to the beginning of the 30th week of pregnancy (n = 229), and the second from the 30th week of pregnancy inclusively (n = 179). In the case of women from both subgroups, there was a risk of preterm delivery close to hospitalization. Results: It was found that stillbirth in 41% of women in the first pregnancy. For the patient, stillbirth was also the first in his life. The average stillbirth weight was 1487 g, the average body length was 40 cm. Among fetuses up to 30 weeks, male fetuses are born more often, in subgroup II, the sex of the child was usually female. Most fetal deaths occur in mothers < 15 and > 45 years of age. Conclusions: According to the Polish results of the origin of full-term fetuses > 30 weeks of gestation for death in the concomitant antenatal, such as placental-umbilical and fetal hypoxia, acute intrapartum effects rarely, and moreover < 30 Hbd fetal growth restriction (FGR), occurring placental-umbilical, acute intrapartum often. [ABSTRACT FROM AUTHOR]

Introduction: This study aimed to evaluate the occurrence of clinically relevant (sub)microscopic chromosomal aberrations in fetuses with the nuchal translucency (NT) range from 3.0 to 3.4 mm, which would be potentially missed by cfDNA testing. Methods: A retrospective data analysis of 271 fetuses with NT between 3.0 and 3.4 mm and increased first trimester combined test (CT) risk in five cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed. Results: A chromosomal aberration was identified in 18.8% fetuses (1:5; 51/271). In 15% (41/271) of cases, trisomy 21, 18, or 13 were found. In 0.7% (2/271) of cases, sex chromosome aneuploidy was found. In 1.1% (3/271) of cases, CNV >10 Mb was detected, which would potentially also be detected by genome-wide cfDNA testing. The residual risk for missing a submicroscopic chromosome aberration in the presented cohorts is 1.8% (1:54; 5/271). Conclusion: Our results indicate that a significant number of fetuses with increased CT risk and presenting NT of 3.0–3.4 mm carry a clinically relevant chromosomal abnormality other than common trisomy. Invasive testing should be offered, and counseling on NIPT should include the test limitations that may result in NIPT false-negative results in a substantial percentage of fetuses. [ABSTRACT FROM AUTHOR]

Considering the spectrum of benefits of breast milk feeding, determining the essential components of an infant's only food-mother's milk-seems justified, especially in the case of those whose deficiency (e.g., iodine) may result in developmental disorders. The main aim of this study was the determination of the total iodine content of breast milk (including colostrum and mature milk). A secondary objective was to assess the influence of factors such as the type of delivery, hypothyroidism, gestational diabetes or the stage of lactation on this parameter. The study materials were colostrum and milk after 1 (n = 14), 2 and 3 months (n = 8) of lactation with a range of iodine concentrations (µg/L): 195–1648 and 170–842, 174–650 and 273–751, respectively. Iodine was determined using the inductively coupled plasma mass spectrometry (ICP-MS). Multivariate statistical analysis revealed, e.g., that delivery by caesarean section or dose of L-thyroxine taken by women to normalise thyroid hormones, had a significant effect on iodine concentrations in breast milk. Further research aimed at assessing the quality of breast milk should also include determining the factors influencing it. [ABSTRACT FROM AUTHOR]

Objectives: Numerous physical and chemical processes lead to rupture of membranes. Within the fetal membranes there are numerous types of metalloproteinases, which cause collagen type I degradation. The C-terminal telopeptide of colagen type I (ICTP) is the breakdown product of type I collagen. The aim of the study was to determine whether ICTP is secreted into the vaginal-cervical fluid (VCF) in the case of physiological rupture of the membranes of the fetus before delivery. Material and methods: The study was conducted in March 2021 at the Department of Obstetrics and Perinatology of the Jagiellonian University in Cracow, Poland. Twenty-three cases were included in the study. During routine gynecological examination with the use of specula, VCF was collected twice in a volume of 50 µL. The obtained material was then subjected to enzyme immunoassay using the Human C-telopeptide of type I collagen (ICTP) ELISA Kit (Catalog Number. CSB-E10363h). The concentration of ICTP in the sample was calibrated. The concentration range that the device can detect was 25 ng/mL-800 ng/mL. Results: The presence of ICTP in the VCF was confirmed. The minimum concentration was 43.72 ng/mL, the maximum was 762.59, in five cases the concentration was outside the maximum scale of the device. Conclusions: ICTP was confirmed in the VCF of pregnant women before physiological delivery. Further studies are required to accurately evaluate ICTP as a marker of the processes of collagen degradation in fetal membranes in the mechanism of physiological labor and premature rupture of the membranes. [ABSTRACT FROM AUTHOR]

Copyright of Ginekologia i Perinatologia Praktyczna is the property of VM Medica-VM Group (Via Medica) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article discusses thoracic endometriosis syndrome, a rare condition where endometrial-like tissue is found in the thoracic cavity, potentially causing pneumothorax, haemothorax, and other complications. A case study of a pregnant woman with thoracic endometriosis is presented, highlighting the challenges of managing this condition during pregnancy. The rarity of thoracic endometriosis contributes to delayed diagnoses and misdiagnoses, emphasizing the importance of considering this diagnosis in pregnant patients with respiratory symptoms and a history of endometriosis. [Extracted from the article]