Early Prenatal Diagnosis of an Extremely Rare Association of Down Syndrome and Transposition of the Great Vessels

Albu, Cristina Crenguţa; Albu, Dinu-Florin; Albu, Stefan-Dimitrie; Pătraşcu, Anca; Musat, Ana-Roxana; Gogănău, Alexandru Marian

doi:10.37358/rc.19.7.7383

Cited by 8 publications

(8 citation statements)

References 10 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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“…During the investigations, the couple were sustained by a multidisciplinary unit with vast experience in the fetal US diagnosis and antenatal genetic evaluation [ 47 , 48 , 49 ].…”

Section: ⧉ Discussionmentioning

confidence: 99%

Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus

Albu

Albu²,

Pătraşcu³

et al. 2021

Rom J Morphol Embryol

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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%

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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Early Prenatal Diagnosis of an Extremely Rare Association of Down Syndrome and Transposition of the Great Vessels

Cited by 8 publications

References 10 publications

Current opportunities and new horizons into the genetic study of infertility

Current opportunities and new horizons into the genetic study of infertility

Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus

Folic acid and its implications in genetic pathology

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