Low first‐trimester pregnancy‐associated plasma protein‐A and Cornelia de Lange syndrome

Arbuzova, Svetlana; Nikolenko, Margaryta; Krantz, David; Hallahan, Terrence; Macri, James N.

doi:10.1002/pd.690

Cited by 23 publications

(25 citation statements)

References 5 publications

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“…Thus, not finding a gene mutation does not rule out the diagnosis, which remains clinical. First trimester ultrasound findings in cases with CdLS include an increased nuchal translucency, cystic hygroma and low PAPP-A on first trimester screening (Bruner and Hsia, 1990;Sekimoto et al, 2000;Huang and Porto, 2002;Arbuzova et al, 2003). First trimester screening done in our Case 2 showed low PAPP-A.…”

Section: Discussionmentioning

confidence: 96%

“…Nonsense, missense, frameshift and splicing mutations have all been identified, and severity is associated with presence of mutation and truncating lesions (Krantz et al, 2004;Tonkin et al, 2004 Prenatally, both large nuchal translucency and cystic hygroma have been reported in the first trimester ultrasound (Urban et al, 2001;Huang et al, 2002). Furthermore, cases with a low second trimester PAPP-A (below 0.20 MoM) were reported (Westergaard et al, 1983;Aitken et al, 1999) and Arbuzova et al (2003) reported a case with low PAPP-A detected at 11 weeks in a pregnancy that was terminated for multiple anomalies including growth retardation, limb reduction abnormalities, clubfoot and oligohydramnios, and on postmortem examination and mutation analysis of the NIPBL gene confirmed the diagnosis of CdLS. We report three cases of CdLS detected prenatally.…”

Section: Introductionmentioning

confidence: 99%

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Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

et al. 2009

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Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis.

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Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

et al. 2009

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“…Pregnancy-associated plasma protein-A levels are significantly lower for women who give birth to a child with CdLS than in normal pregnancies [15] . Two other biochemical maternal serum markers, free ␤ -subunit of human chorionic gonadotropin ( ␤ -HCG) and inhibin A, are also reduced in CdLS pregnancies, albeit to a lesser extent [15,16] . In our family no first-trimester screening (nuchal tranlucency measurement or assay of serum pregnancy-associated plasma protein-A level) was performed.…”

Section: Discussionmentioning

confidence: 99%

Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype

Wilmink

Papatsonis

Grijseels³

et al. 2009

Fetal Diagn Ther

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We describe a fetus with Cornelia de Lange syndrome diagnosed after termination of pregnancy at 21 weeks. Prenatally, growth retardation, diaphragmatic hernia, cystic hygroma and a right hand with only three rays were diagnosed by ultrasound in the second trimester of pregnancy. Postnatal magnetic resonance imaging confirmed the prenatal findings, and the presence of the typical dysmorphic features led to the diagnosis of Cornelia de Lange syndrome. The diagnosis was confirmed by the finding of a truncating mutation in the NIPBL gene. This case illustrates that the diagnosis Cornelia the Lange syndrome can be suspected prenatally in the second trimester, and can be diagnosed in fetuses after induction or newborns at birth as the typical phenotype is present early.

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“…Similarly, low first and second trimester maternal serum pregnancy-associated plasma protein A (PAPP-A) have been associated with CdLs. The difficulty here is that PAPP-A measurements must be taken over a period of time, and PAPP-A is not a fetal analyte that is routinely measured in maternal serum during second trimester pregnancy screening tests [3,4,5].…”

Section: Discussionmentioning

confidence: 99%

Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the <i>NIPBL</i> Gene

Wilson¹,

Goodman²,

Cole³

et al. 2013

AJBR

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Prenatal diagnosis of Cornelia de Lange syndrome (CDLs) is difficult due to non-specific ultrasound and biochemical findings, normal karyotype, and negative family history. Previous studies suggest that low first and second trimester levels of pregnancy associated plasma protein-A are an indicator for this genetically heterogeneous condition, low levels of this protein can be non-specific. Here, we suggest the addition of estriol to the prenatal evaluation of CdLs. This steroid hormone, produced by the placenta from fetal 16-hydroxydehydroepiandrosterone, can serve as an indicator for fetal distress, placental dysfunction, and intrauterine growth retardation which is a feature of CdLs.

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Low first‐trimester pregnancy‐associated plasma protein‐A and Cornelia de Lange syndrome

Cited by 23 publications

References 5 publications

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype

Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the <i>NIPBL</i> Gene

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