First-trimester fetal nuchal translucency and inherited metabolic disorders

Biasio, Pierangela De; Prefumo, Federico; Casagrande, Valentina; Stroppiano, Marina; Venturini, Pier Luigi; Filocamo, Mirella

doi:10.1002/pd.1341

Cited by 6 publications

(3 citation statements)

References 24 publications

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“…There was no family history of the inherited disorder. According to reports [ 20 ] stating, some inherited metabolic disorders have increased nuchal thickness in the first trimester, and doctors tested the parents to identify whether they were carriers of c.1492C>T (p.R498W). GT was performed on the woman and her husband to exclude the possibility of their carrying c.1492C>T in VPS33A .…”

Section: Resultsmentioning

confidence: 99%

Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Sofronova

Gotovtseva²,

Данилова

et al. 2023

Genes

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Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this disease than others. Diagnosing MPSPS relies on clinical manifestations, and genetic testing (GT) is used to confirm the diagnosis. In this research, we examined two pregnancy cases, one of which involved a prenatal diagnosis for MPSPS. Notably, neither pregnant woman had a known family history of the disorder. During their pregnancies, both women underwent prenatal ultrasonography, which revealed increased prenasal thickness during the second trimester. In the first case, ultrasonography indicated increased prenasal thickness in the second trimester, but a definitive diagnosis was not made at that time. The patient was eventually diagnosed with MPSPS at 11 months of age. On the contrary, in the second case, GT uncovered that the parents were carriers of MPSPS. Consequently, a placental biopsy was performed, leading to an early diagnosis of MPSPS. This study emphasizes the importance of ultrasonography findings in prenatal MPSPS diagnosis. Combining ultrasonography with GT can be a valuable approach to confirming MPSPS at an early stage, allowing for the appropriate planning of delivery methods and medical care. Ultimately, this comprehensive approach can significantly enhance the quality of life of both affected patients and their parents.

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Section: Resultsmentioning

confidence: 99%

Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Sofronova

Gotovtseva²,

Данилова

et al. 2023

Genes

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“…They observed 13 fetuses afflicted with Gaucher disease, glycogenosis type II, mucopolysaccharidosis type I, Krabbe disease, metachromatic leukodystrophy, mucopolysaccharidosis type II, NPD-A, Pelizaeus–Merzbacher disease, and sialidosis, and concluded that an increased NT was found only in one fetus with trisomy 21 but without mucopolysaccharidosis type II. Thus, the NT in early pregnancy might be normal even in fetuses afflicted with conditions known to be associated with non-immune hydrops fetalis ( 33 ).…”

Section: Discussionmentioning

confidence: 99%

First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

Pleș¹,

Sima²,

Nedelea³

et al. 2018

Front. Endocrinol.

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BackgroundThe importance of fetal nuchal translucency was highlighted in the early 1990s as a useful first-trimester marker to identify fetal chromosomal abnormalities. Here, we report the prenatal diagnosis of a fetus with Niemann–Pick disease type C initially identified by first-trimester ultrasonographic markers and eventually confirmed by extensive genetic evaluation.Case presentationThe fetus of a 30-year-old woman exhibited a cystic hygroma in the first trimester of pregnancy. The woman underwent chorionic villus sampling with extensive genetic investigations to identify the genetic cause of the ultrasonographic findings. Owing to normal karyotype results, further evaluation of 1,024 genes underlying structural abnormalities was performed. This test identified a homozygous mutation of the NPC2 gene (OMIM 601015), which has been reported to be pathogenic and responsible for Niemann–Pick disease type C2 (NPD-C2). Genetic evaluation of the parents found them to be carriers. Considering the poor prognosis, the parents decided to terminate the pregnancy. Ultrasonographic screening during the subsequent pregnancy showed normal findings; however, molecular testing for the previous familial mutation c.441 + 1G>A identified the fetus as homozygous for this mutation. Therefore, the parent chose to terminate the subsequent pregnancy as well.ConclusionWe report the first prenatal diagnosis of NPD-C2 based on a cystic hygroma found during the first trimester of pregnancy as the sole indicator.

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“…Alterations of extracellular matrix could explain this finding in inherited metabolic disorders (Von Kaisenberg et al , ). However, in a large reported series, including 66 fetuses at high risk for inherited metabolic disorders, this association was not observed, and the single affected fetus by Hunter syndrome showed a normal NT (De Biasio et al , ), stressing again the need for larger sample studies.…”

Section: Discussionmentioning

confidence: 99%