Impact of Material Serum Screening in Early Prenatal Diagnosis and Management of Congenital Anomalies

Albu, Cristina-Crenguta; Cilievici, Suzana Elena; Albu, Dinu-Florin; Albu, Stefan-Dimitrie; Pătraşcu, Anca; Gogănău, Alexandru Marian

doi:10.37358/rc.19.5.7164

Cited by 6 publications

(6 citation statements)

References 9 publications

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“…To find out if there are unstable parental chromosomal abnormalities, which can lead to the impossibility of conceiving or to miscarriage due to a genetic cause, the karyotype of the couple and of the fetus were performed in cases of high-risk pregnancy [ 35 , 36 , 37 ].…”

Section: ⧉ Discussionmentioning

confidence: 99%

Current opportunities and new horizons into the genetic study of infertility

Nadă

Albu

Pătraşcu³

et al. 2021

Rom J Morphol Embryol

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Introduction: An estimated 12.5% of couples experiencing fertility problems and almost 12% of reproductive age women have turned to health services at least once due to infertility. First trimester miscarriage is the most common clinical manifestation of infertility associated with a genetic cause. Patients, Materials and Methods: The scientific research was conducted at A.S. Medical Center in Bucharest, Romania, between January 2016 and December 2018, on a representative group of 1264 Caucasian patients diagnosed with infertility, from which the study group was selected, consisting of 273 patients who were further genetically investigated. Results: Chromosomal instability, identified in 14% of patients, has been encountered most frequently in women (7%), and least often in fetuses (2%), unlike other chromosomal anomalies, identified in 55% of patients, which were more common in fetuses (27%) and least frequently in men (9%). Recurrent pregnancy loss due to genetic causes was identified in 53% of cases, being determined by chromosomal instability in 16% of cases and by other chromosomal anomalies in 37% of cases. Infertility due to a genetic cause was identified in 83% of cases, being determined by chromosomal instability in 17% of cases and by other chromosomal anomalies encountered in 66% of cases. In genetic risk pregnancies in evolution, fetal chromosomal anomalies were detected in 94% of cases, the most frequent being aneuploidy and polyploidy. Cytogenetic studies carried out on tissue fragments taken from aborted products of conception revealed the presence of a genetic cause in 57% of cases, an abnormal chromosome number being the most common (36%). The analysis of microdeletions of the long arm of the Y chromosome indicated that 5.5% of men with infertility are affected by this condition. Conclusions: Although genetic tests are considered complex and expensive laboratory investigations, they are crucial in identifying the etiology of over 40% of infertility cases associated with genetic factors, as well as in the correct and effective management of infertility.

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Section: ⧉ Discussionmentioning

confidence: 99%

Current opportunities and new horizons into the genetic study of infertility

Nadă

Albu

Pătraşcu³

et al. 2021

Rom J Morphol Embryol

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“…In 95% of cases, the additional chromosome is of maternal origin [37][38][39]. Clinically, Down syndrome, one of the most frequent congenital birth defects, can be defined as a syndrome with characteristic facial dysmorphism, short stature, and severe mental retardation [36,40,41].…”

Section: Relationships Between Mthfr C677t Gene Mutation and Maternal...mentioning

confidence: 99%

“…As a result, the risk of mothers under the age of 29 is 1/3000 births; at the age of 30, it increases sharply to 1/700; and at the age of 45, the risk is almost unacceptable, at 1/40 births [38,[41][42][43]. These statistics show that the younger the mothers, the lower the risk of giving birth to children with Down syndrome [40].…”

Section: Relationships Between Mthfr C677t Gene Mutation and Maternal...mentioning

confidence: 99%

Folic Acid and Its Role in Oral Health: A Narrative Review

et al. 2023

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Vitamins, exogenous organic compounds that play a vital role in metabolic reactions, and fundamental powerful antioxidants with a crucial role in the genetic transcription process, are considered essential nutritional factors. Folic acid (FA), also known as folate, or Vitamin B9, plays an indispensable role in various intracellular reactions, being the main pawn, with a strong impact on medical and dental science. The aim of this paper mainly focuses on presenting the latest and most advanced aspects related to the following topics: (1) the resonance that FA, and more specifically FA deficiency, has at the level of the oral cavity; (2) the elements involved in the molecular landscape, which reflect the interaction and the possible mechanisms of action, through which FA influences oral health; and (3) the particular processes by which FA deficiency causes certain clinical conditions. Moreover, we aim to draw the attention and trigger the curiosity of health professionals on the need to know the specific host–environment interactions, particularly the linkage between individual genotype and phenotypic variability, which in the future could represent the basis of novel and effective treatment methods. From this perspective, we begin by providing an overview of the general radar echo of the human body induced by FA deficiency, before focusing on the genetic strategic substrate and biochemical processes involved in the molecular mechanisms through which FA acts at the cellular level. Finally, we reflect on the resulting conclusions: (1) the complex interrelationships between different types of cytokines (CKs) and abnormal folate metabolism are involved in the occurrence of neural tube defects (NTDs) and orofacial clefts (OFCs); (2) increased oxidative stress, endothelial dysfunction, and genomic instability, induced by folate deficiency, have a major impact on periodontal health; and (3) glutamate carboxypeptidase II, GCP2 1561C>T allelic variant, constitutes the main pawn, which specifically influences the bioavailability of natural folates and FA, as the main actors, with essential roles in oral health.

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“…The additional chromosome 21 is of maternal origin in 95% of cases and is caused by the failure of the chromosomes of the pair 21 during meiosis [27,30,31].…”

Section: Mthfr C677t Gene Mutation and Maternal Risk Of Down Syndromementioning

confidence: 99%

“…The risk of giving birth to a child with Down syndrome increases with the mother's age [28]. Thus, the risk of mothers under 29 is 1 / 3,000 births, at 30 it increases sharply to 1/700, and at 45 the risk is almost unacceptable, being 1/40 of births [28,[31][32][33].…”

Section: Mthfr C677t Gene Mutation and Maternal Risk Of Down Syndromementioning

confidence: 99%

Folic acid and its implications in genetic pathology

Albu¹,

Albu²,

Russu³

et al. 2022

World J. Adv. Res. Rev.

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Vitamins are essential for the proper functioning of the body, and Folic Acid, also known as Vitamin B9, has many benefits for the body. Folic Acid contributes to the normal development of the fetus, preventing the risk of fetal birth defects, mainly represented by neural tube defects and orofacial clefts. At the same time, Folic Acid deficiency can cause serious health problems. That is why it is necessary to know the roles of Folic Acid in the body, the symptoms of Folic Acid deficiency, but also what foods are rich in Folic Acid and how to supplement the body's need for Folic Acid.

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Impact of Material Serum Screening in Early Prenatal Diagnosis and Management of Congenital Anomalies

Cited by 6 publications

References 9 publications

Current opportunities and new horizons into the genetic study of infertility

Current opportunities and new horizons into the genetic study of infertility

Folic Acid and Its Role in Oral Health: A Narrative Review

Folic acid and its implications in genetic pathology

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