Prenatal detection of rare chromosomal autosomal abnormalities in Europe

Baena, Neus; Vigan, Catherine De; Cariati, E; Clementi, M.; Stoll, Claude; Caballı́n, Marı́a Rosa; Guitart, Míriam

doi:10.1002/ajmg.a.10104

Cited by 20 publications

(24 citation statements)

References 30 publications

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“…With the advent of prenatal screening in the first trimester, many fetuses that would have miscarried or been stillborn are diagnosed with a chromosome error. Our rate of 43.6/10 000 births, for all chromosome abnormalities, is therefore, as expected, higher than that found in newborn studies 3,[15][16][17] where rates of 17-31/10 000 were found.…”

Section: Discussionsupporting

confidence: 55%

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

et al. 2012

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The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for [2000][2001][2002][2003][2004][2005][2006] inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

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Section: Discussionsupporting

confidence: 55%

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

et al. 2012

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“…After excluding those abnormalities considered to be lethal in utero, the rate of additional rare trisomies and unbalanced rearrangements is less than 1/1000, a rate that is consistent with the livebirth data. Approximately a half of the rare autosomal chromosomal abnormalities seen in the second trimester can be expected to show abnormal ultrasound findings (33). Chromosome abnormalities are much more frequently encountered in CVS specimens (Table 1 and Fig.…”

Section: Cytogenetically Recognizable Imbalancesmentioning

confidence: 99%

Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

Benn

2016

Clinical Genetics

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Non-invasive prenatal testing (NIPT) based on cell-free DNA in maternal plasma is being expanded to include additional chromosome abnormalities beyond those involving chromosomes 21, 18, 13, X and Y. Review of population cytogenetic data provides insight into the likely number of additional abnormalities detectable. Additional clinically significant and cytogenetically recognizable abnormalities are present in less than 0.1% of newborns but clinically significant, or potentially significant, sub-microscopic imbalances are expected to be present in 1.7%. Cytogenetic studies on chorionic villus samples suggests that after excluding abnormalities involving chromosomes 21, 18, 13, X and Y, approximately 0.6% of NIPT results may be positive for an unbalanced abnormality attributable to mosaicism but most of these will not be confirmed at amniocentesis or in newborns. NIPT has also been developed for specific microdeletion syndromes and initial experience is now available. Laboratory procedures such as deeper sequencing and additional data analytics are rapidly evolving but even with existing protocols, it is already clear that NIPT does not necessarily need to be limited to trisomies 21, 18, 13 and the sex-chromosome abnormalities. Patient educational materials and genetic counseling services need to be available for women offered expanded NIPT.

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“…Abnormal prenatal ultrasound findings in these fetuses were very heterogeneous. They include duodenal atresia and annular pancreas (Fernandez-Gonzalez et al, 2001), increased nuchal thickness (McClelland et al, 1998), unilateral duplex renal system with pyelectasis (Chen et al, 2001), cleft lip and palate (Chen et al, 2001), hypoplastic left heart (Baena et al, 2003), diaphragmatic hernia (Baena et al, 2003), short femura and humeri, and overlapping of the toes (Chen et al, 2004). Moderate ventriculomegaly and minor growth retardation were the only abnormalities observed in our case.…”

Section: Discussionmentioning

confidence: 99%