Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations

Chen, Chih‐Ping; Su, Yi‐Ning; Lin, Song; Chang, Chih‐Long; Wang, Yeou-Lih; Huang, Jiau-Pei; Chen, Chen-Yu; Hung, Fang-Yu; Chen, Yi-Yung; Wu, Pei‐Chen; Wang, Wayseen

doi:10.1016/j.tjog.2010.05.001

Cited by 25 publications

(6 citation statements)

References 37 publications

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“…Multiple options exist for diagnosis of microdeletions from invasive testing samples, such as FISH (fluorescence in situ hybridization), MLPA (multiplex ligation-dependent probe amplification), aCGH (microarray-based comparative genomic hybridization), and next generation sequencing [ 13 , 14 ]. FISH analyses for microdeletion syndromes have successfully been replaced by MLPA [ 15 – 17 ].…”

Section: Discussionmentioning

confidence: 99%

The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

Rapacchia

Lapucci²,

Pittalis

et al. 2015

Case Reports in Obstetrics and Gynecology

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Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition.

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Section: Discussionmentioning

confidence: 99%

The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

Rapacchia

Lapucci²,

Pittalis

et al. 2015

Case Reports in Obstetrics and Gynecology

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“…The syndromes include Noonan's syndrome, Apert's syndrome, Fryns' syndrome, Pena-Shokeir syndrome, Cornelia de Lange syndrome, achondroplasia, lethal multiple pterygium syndrome, congenital heart disease, and fetal alcohol syndrome. [22][23][24][25][26][27] Hydrops fetalis is defined by detecting two or more abnormal fluid collections (ascites, pleural effusion, pericardial effusion, or shin edema) in the fetus by sonography. 28 It affects 1 in 1,700 to 3,000 pregnancies and is associated with worrisome perinatal sequelae, including preterm birth, mirror syndrome, intrauterine fetal death, or neonatal death.…”

Section: Macroscopymentioning

confidence: 99%

Stillbirth Investigations: An Iconographic and Concise Diagnostic Workup in Perinatal Pathology

2023

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Background Stillbirth is a dramatic event for the parents, health care team, and anyone close to the expectant parents. Multidisciplinary team (MDT) meetings are essential to improve communication in health care. We review the most frequent findings discussed at MDT meetings. Methods A PubMed search was conducted through December 2021 since the inception (1965) using clinical queries with the key terms “stillbirth” AND “investigation” AND “pathology” AND “human.” The search strategy included reviews, meta-analyses, randomized controlled trials, clinical trials, and observational studies. This systematic review is based on, but not limited to, the search results. It is the experience of more than 30 years of pediatrics, obstetrics, and pathology staff. Results Two hundred and six articles were screened and complemented through the perusal of congressional activities and personal communications. Pathological findings following perinatal death can be divided into macroscopic, histologic, and placental findings. The placenta is crucial in fetal medicine and is key in determining the cause of stillbirth in a substantial number of events. Perinatal lung disease is essential to evaluate the response of newborns to extrauterine life and address newborns' outcomes appropriately. Conclusions Stillbirth remains one of the less explored areas of medicine, and we can determine the cause in a limited number of cases. Nevertheless, placental pathology is critical in the etiology discovery pathway. Accurate investigations and discussion of photography-supported findings are vital in promoting communication at MDT meetings.

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“…We have previously reported such an application in pregnancies with major fetal structural abnormalities such as cases of isolated ventriculomegaly [1], cystic hygroma and ventriculomegaly [2], fetal nuchal edema and mild ascites [3], and a ventricular septal defect and bilateral ventriculomegaly [4]. Here, we present an additional case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21.…”

Section: Introductionmentioning

confidence: 97%

Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia

Chen

Wang

Chern

et al. 2015

Taiwanese Journal of Obstetrics and Gynecology

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Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations

Cited by 25 publications

References 37 publications

The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

Stillbirth Investigations: An Iconographic and Concise Diagnostic Workup in Perinatal Pathology

Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia

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