Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and <i>B3GALTL</i> mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

Schoner, Katharina; Kohlhase, Juergen; Müller, Annette; Schramm, Thomas; Plassmann, Margit; Schmitz, Ralf; Neesen, Jürgen; Wieacker, P.; Rehder, Helga

doi:10.1002/pd.4012

Cited by 31 publications

(26 citation statements)

References 26 publications

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“…Our observation further supports the association between PPS and Dandy-Walker-like anomaly, which was previously reported in only one PPS patient [10].…”

Section: Discussionsupporting

confidence: 93%

Peters Plus Syndrome: Another Way to See a Known Syndrome

Grande¹,

Ciabattoni²,

Andreucci³

et al. 2017

J Genet Syndr Gene Ther

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“…Our observation further supports the association between PPS and Dandy-Walker-like anomaly, which was previously reported in only one PPS patient [10].…”

Section: Discussionsupporting

confidence: 93%

Peters Plus Syndrome: Another Way to See a Known Syndrome

Grande¹,

Ciabattoni²,

Andreucci³

et al. 2017

J Genet Syndr Gene Ther

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“…Several additional syndromes are associated with hydrocephalus, including the mucopolysaccharidoses [87], Sotos syndrome [87], Peter's Plus syndrome [88] , primary ciliary dyskinesia [89, 90], Gorlin syndrome [91], and Rothmund-Thomson syndrome [92]. In addition to these single-gene disorders, many cytogenetic abnormalities have been linked to hydrocephalus, including microdeletion 9q22.3 [93], partial trisomy 1 [94], deletion 6q26q27 [95, 96], terminal duplication of 7q [97], as well as Trisomy 13, 18, 21 and triploidy [2].…”

Section: Hydrocephalus Accompanied By Other Physical Features (Table 2)mentioning

confidence: 99%

Infantile hydrocephalus: A review of epidemiology, classification and causes

Tully¹,

Dobyns²

2014

European Journal of Medical Genetics

311

246

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Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

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“…They then calculated the average apparent ff for every 1000 informative SNPs on contiguous blocks of DNA within the targeted areas of the genome (39, 40). Results were confirmed by use of chorionic villi or umbilical cord blood.…”

Section: Nipt For Autosomal Aneuploidymentioning

confidence: 99%

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

2014

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BACKGROUND Over the past 2 years, noninvasive prenatal testing (NIPT), which uses massively parallel sequencing to align and count DNA fragments floating in the plasma of pregnant women, has become integrated into prenatal care. Professional societies currently recommend offering NIPT as an advanced screen to pregnant women at high risk for fetal aneuploidy, reserving invasive diagnostic procedures for those at the very highest risk. CONTENT In this review, we summarize the available information on autosomal and sex chromosome aneuploidy detection. Clinical performance in CLIA-certified, College of American Pathology–accredited laboratories appears to be equivalent to prior clinical validation studies, with high sensitivities and specificities and very high negative predictive values. The main impact on clinical care has been a reduction in invasive procedures. Test accuracy is affected by the fetal fraction, the percentage of fetal DNA in the total amount of circulating cell-free DNA. Fetal fraction is in turn affected by maternal body mass index, gestational age, type of aneuploidy, singleton vs multiples, and mosaicism. Three studies comparing NIPT to serum or combined screening for autosomal aneuploidy all show that NIPT has significantly lower false-positive rates (approximately 0.1%), even in all-risk populations. A significant number of the discordant positive cases have underlying biological reasons, including confined placental mosaicism, maternal mosaicism, cotwin demise, or maternal malignancy. SUMMARY NIPT performs well as an advanced screen for whole chromosome aneuploidy. Economic considerations will likely dictate whether its use can be expanded to all risk populations and whether it can be applied routinely for the detection of subchromosome abnormalities.

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Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

Cited by 31 publications

References 26 publications

Peters Plus Syndrome: Another Way to See a Known Syndrome

Peters Plus Syndrome: Another Way to See a Known Syndrome

Infantile hydrocephalus: A review of epidemiology, classification and causes

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

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