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Chromosome Abnormalities in Human Pregnancy Loss
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Little literature is available on the microscopic observation of 3-D chorionic villus structure from early conceptions. Utilizing laboratory observations and photography in the Perth laboratory, there appear to be correlations between the villus morphology and the chromosomal constitution. It has long been known that histological examination identifies many partial molar pregnancies due to characteristic hydropic villi mixed with more normal villus structures. Our images demonstrate these structures in three dimensions (Figure 28.4c and d). These villi can be compared with trisomy 16 (Figure 28.5a and b), where the villi show quite abnormal villus tree structures. Both normal male and monosomy X karyotypes demonstrate simple villus structures (Figure 28.5a and b, respectively) with little development of the villus tree structure required for placental development. Early development of a normal male conception at 5–6 weeks presents simple unbranching villi (Figure 28.5c and d).
Necrotizing Enterocolitis Risk From a Maternal-Fetal Medicine Perspective
Published in David J. Hackam, Necrotizing Enterocolitis, 2021
Mark L. Kovler, Savannah Ireland, Angie C. Jelin, Eric B. Jelin
Chorioamnionitis is an infection of the chorion, amnion, and placenta, which is usually caused by pathogenic bacteria, producing intrauterine inflammation and often resulting in preterm birth (65). The incidence of chorioamnionitis is inversely related to gestational age and is detected in a majority of extremely preterm infant births (66). It is diagnosed either clinically or pathologically. Clinical diagnosis requires maternal signs of infection in a fetus that is at risk for preterm birth. More commonly, chorioamnionitis has a subclinical presentation and is discovered on histologic examination of the placenta after preterm delivery and frequently in the setting of prolonged rupture of membranes (14, 65). The heightened intrauterine inflammatory response can contribute to elevated inflammation in the fetus and increase the risk of NEC after birth, possibly through in utero activation of TLR4 (67).
Common Tips on Communication
Published in Justin C Konje, Complete Revision Guide for MRCOG Part 3, 2020
Another alternative to a chorionic villus sampling is amniocentesis, a test also in which a needle is passed through your tummy into the sac housing the baby and a small sample (less than 2 oz.) of fluid that surrounds the baby is taken and sent to the lab. This test is performed at a more advanced stage of pregnancy – the earliest time it can be performed is 15 weeks. The test also has risks; the most important of which are infections, bleeding and miscarriage. The procedure-related miscarriage rate is 1%. Although very rare, the test may fail to generate a result.
Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations
Published in Hemoglobin, 2021
Amna Tariq, Sana Khurshid, Muhammad Sajjad
Samples from 30 β-thal carrier couples who were at-risk of having an affected fetus (based on hematological profiles/previous genetic analysis history) were recruited from the Punjab Thalassaemia Prevention Project (PTPP) head office located at Sir Ganga Ram Hospital, Lahore, Pakistan. The couples were genetically counseled, and signed a consent form. All procedures were performed in accordance with consideration of the ethics approval committee. About 2.5–3.0 mL of blood was collected from the carrier couples (total 60 individuals) in EDTA-containing vacutainers and were processed first for hematological analysis; trait status was further checked by high performance liquid chromatography (HPLC). Moreover, for PND, 30 chorionic villus samples (CVS) were collected from the carrier mothers at almost 11 weeks’ gestation and saved at 2-8 °C for further molecular analysis. For molecular analysis, DNA was extracted from blood and saved at 2-8 °C for further molecular analysis. For molecular analysis, (total 60 individuals) DNA was extracted from blood or CVS tissue using the TIANA-amp genomic DNA kit [Tiagen Biotech (Beijing) Co. Ltd., Beijing, Republic of China (PRC)] following the manufacturer’s protocol. The quality and quantity of extracted DNA samples were monitored using a Nanodrop spectrophotometer and gel electrophoresis (Merck KGaA, Darmstadt, Germany). Any sample with A260/280 less than 1.8 ± 0.02 and/or quantity less than 50 µg/µL was re-extracted.
Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations
Published in Hemoglobin, 2020
Md. Abdul Aziz, Waqar A. Khan, Bilquis Banu, Sudipta A. Das, Salma Sadiya, Sayeda Begum
There are several sampling procedures for PND. Invasive procedures are chorionic villus sampling (CVS), amniocentesis and blood sampling [17]. Non invasive procedures such as isolation of fetal cells from maternal blood are being tested [18]. Chorionic villus sampling and amniocentesis are common prenatal diagnostic procedures used to detect certain fetal genetic abnormalities [19]. The advantage of the CVS procedure is the diagnosis of disease in early pregnancy (11–13 weeks’ gestation), and thus, early termination of pregnancy is associated with lower morbidity and decreased psychological trauma of the mother [20,21]. Chorionic villus sampling is usually preferred, but if the CVS procedure fails or mother is tested at 15 weeks’ gestation or more, amniocentesis can be done between 15 and 16 weeks’ gestation [22]. The current study aimed to disseminate our findings of the type of mutations seen in prenatal samples and also to take note of some rare mutations, as this will help other DNA centers in the near future.
Pregnancy immune tolerance at the maternal-fetal interface
Published in International Reviews of Immunology, 2020
Xiaopeng Li, Jiayi Zhou, Min Fang, Bolan Yu
IL-10 and transforming growth factor-β (TGF-β) have suppressor properties that regulate the Treg cell-mediated immune tolerance.80 IL-10 and TGF-β can be secreted by many cell types. CD25+CD4+T cells were found to produce higher levels of IL-10 and TGF-β compared with CD25-CD4+ T cells indicating that the two cytokines might have functions in Treg cells immune regulation process. The CD14+ decidual cells81 and DC cells82 can produce IL-10 and TGF-β to induce the Treg cells differentiation. Thus, the Treg cells sustain the maternal-fetal interface immune tolerance by IL-10 and TGF-β with autocrine and paracrine manner. Human chorionic gonadotropin (hCG) is a placental glycoprotein essential for normal pregnancy maintaining.83 In early pregnant stage, Treg cells are attracted by hCG-producing trophoblasts to the maternal-fetal interface to orchestrate immune tolerance toward the fetus.84