Lethal Developmental Defects: An Overview

Halder, Ashutosh

doi:10.4236/ojog.2014.416141

Cited by 2 publications

(3 citation statements)

References 65 publications

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“…Hence, it is essential to have detailed clinical information and suitable biological materials (biorepository) as initiators and later screening through high throughput omics platforms. 256 It is hoped that the data generated in this field in the coming years and later integrated into system biology will be of excellent service to answer underlying etiology, pathophysiology, early prediction, and prevention. Genomic abnormalities are a significant cause of a large proportion of congenital malformations.…”

Section: Congenital Malformationmentioning

confidence: 99%

“…Hence, understanding the reproductive genetics of major developmental disorders is essential for today's perinatal care specialists. 256 And finally, but most importantly, families with multiple affected should be referred to a genetic center to find out the underlying genetic/genomic cause which is most likely to contribute to a better future in this field.…”

Section: Congenital Malformationmentioning

confidence: 99%

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The Genetic and Genomic Landscape of Human Reproductive Disorders: An Overview with Our Experience

Halder

Sharma²,

Rana³

et al. 2023

MRAJ

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Genetics and genomics play a role in the causation of various human diseases. A large number of human reproductive disorders also arise as a result of genetic and genomic abnormalities. Reproductive disorders associated with predominantly genetics and genomic abnormalities are infertility, early pregnancy loss, congenital malformations, difference or disorder of sex development and reproductive cancers. The genetic etiology of human reproductive disorders is increasing with improved molecular biology techniques such as DNA microarray and next-generation sequencing. Infertility is one of the significant areas of reproductive disorders where genetics/genomics plays a substantial role and may result from chromosomal, copy number variation, Yq & pseudo autosomal region microdeletion/microduplication, gene mutation (monogenic, oligogenic, polygenic), multifactorial, epigenetic, mitochondrial, etc. abnormalities. All idiopathic infertile couples should be screened for genetic disorders before assisted reproduction to prevent transmission, if any, in offspring. Pregnancy wastage in early pregnancy is very high (about 70%) and is mainly related to chromosome number, copy number variation, and some monogenic or epigenetic abnormalities. Therefore, all early pregnancy loss cases should also be tested for genetic causes. Congenital malformations are structural defects in embryo, fetus, or newborns and affect about 3% (major malformations) of all births. The malformations could be due to the abnormalities of chromosomes, copy number variation, monogenic, oligogenic, multifactorial, or environmental. Array CGH &/or NGS should be used as the first step to screen congenital malformations. Differences/disorder of sex development is a developmental defect in which the determination and/or differentiation of chromosomal, gonadal, or phenotypic/anatomic sex is abnormal. It is a common disorder and is primarily related to genetic abnormalities. Therefore, a precise diagnosis, mainly through an array CGH and/or NGS, is crucial for the proper management to prevent future psychosexual problems and another birth with the disorder. Cancer is a genomic disorder characterized by genomic instability (due to a defect in DNA repair mechanism), uncontrolled replication (due to lack of response to inhibitory factors/loss of contact inhibition), neo-angiogenesis, invasion and metastasis. All cancer cases should be investigated for genomic markers (both hereditary and somatic) for precise diagnosis, prognosis, and genetic counseling. In this review, we will try to evaluate the role of genetics and genomics in the above-mentioned reproductive disorders, along with genetic & genomic techniques used and reproductive counseling in addition to our experiences.

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Section: Congenital Malformationmentioning

confidence: 99%

Section: Congenital Malformationmentioning

confidence: 99%

The Genetic and Genomic Landscape of Human Reproductive Disorders: An Overview with Our Experience

Halder

Sharma²,

Rana³

et al. 2023

MRAJ

View full text Add to dashboard Cite

show abstract

“…Maternal age and different chemicals used in food as preservative or fertilizers were thought to be contributing factors. 9 Ultrasound is the modality of choice for the early diagnosis of NTDs. A review was conducted on the early diagnosis of neural anomalies and sonoembryology.…”

Section: Introductionmentioning

confidence: 99%

Sonographic Transformation of Acrania to Anencephaly

Bacha¹,

Gilani²,

Manzoor³

et al. 2017

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Objective To ascertain that acrania can lead to anencephaly Materials and methods We commenced a cross-sectional study for a period of 41 months from 2013 to 2017. During routine ultrasound examination, we observed multiple cases of acrania in second trimester and third trimester. We followed 26 cases who failed to terminate their pregnancies and visited for reexamination. Changes in the brain matter, amniotic fluid volume, and echogenicity of the acrania fetuses were recorded and compared with the previous examination. Development of anencephaly was correlated with maternal age and advancement of gestational age. All the patients were examined transabdominally according to the American Institute of Ultrasound in Medicine (AIUM) guidelines for obstetrical ultrasound. Data were collected from the previous report and recent examination, by evaluating data with the help of IBM Statistical Package for the Social Sciences (SPSS) version 24 package, and the results were summarized. Results Pregnant women with diagnosed acrania fetus visited second time with a lapse of more than 4 weeks and were enrolled with mean age 25.73 ± 8.80. We observed 4 (15.4%) acrania patients developed into anencephaly. Development of anencephaly was observed to be correlated with the advancement of gestational age. It was observed that acrania is more common in below 20 and above 30 age groups. Haziness of amniotic fluid is also observed to be related with acrania. Conclusion Anencephaly could be caused by multiple factors but acrania can lead to anencephaly with continuous exposure of brain matter and meninges to mechanical trauma and chemical activities of the amniotic fluid. Clinical significance To test the hypothesis of acrania to anencephaly and make a roadmap for upcoming researches on association of acrania with physical, environmental, and genetical factors. How to cite this article Bacha R, Gilani SA, Manzoor I. Sonographic Transformation of Acrania to Anencephaly. Donald School J Ultrasound Obstet Gynecol 2017;11(3):189-196.

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Lethal Developmental Defects: An Overview

Abstract: About 3% of all conceptions are associated with major congenital malformations

Cited by 2 publications

References 65 publications

The Genetic and Genomic Landscape of Human Reproductive Disorders: An Overview with Our Experience

The Genetic and Genomic Landscape of Human Reproductive Disorders: An Overview with Our Experience

Sonographic Transformation of Acrania to Anencephaly

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