Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome
-
Christel Eckmann-Scholz
,
Julia Mallek
Abstract
Objective: To investigate the outcome of pregnancy after detection of chromosomal mosaicism and to determine the correlation between human chorionic gonadotropin (free β-HCG) and pregnancy-associated plasma protein-A (PAPP-A) levels from first-trimester-screening with pregnancy outcome.
Methods: In a single-center, retrospective survey of the results of prenatal diagnostics performed between January 2000 and March 2011, we identified a total of 40 pregnancies with chromosomal mosaicism. Clinical characteristics and results of first-trimester screening, as well as the outcome of these cases, are described.
Results: Out of 40 cases, 21 were defined as confined placental mosaicism, 10 classified as true mosaicism and nine were not classifiable cases. Nuchal translucency (NT) was ≥2.5 mm in 8/30 cases with respective measurements. PAPP-A levels were ≤0.4 MoM in 9/26 cases, with respective measurements, two of them being newborns with growth restriction. Remarkably, in pregnancies of all four children born with severe growth retardation, <3rd percentile PAPP-A levels were below 0.52 MoM.
Conclusions: Our observations show mosaic pregnancy outcomes to be very heterogeneous. Nevertheless, a combination of low PAPP-A and interpretation of chromosomal mosaicism might identify pregnancies at particular risk for fetal growth restriction.
©2012 by Walter de Gruyter Berlin Boston
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- Review Article
- Retinal microvascular changes in low-birth-weight babies have a link to future health
- Original Articles – Obstetrics
- Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome
- Perinatal impact of the use of metformin and glyburide for the treatment of gestational diabetes mellitus
- Incidence and causes of maternal thrombocytopenia in triplet gestation
- Maternal and paternal age and twinning in the United States, 2004–2008
- Correlates of the trend of cesarean section rates in twin pregnancies
- Prospective risk of stillbirth: monochorionic diamniotic twins vs. dichorionic twins
- Association between increased yolk sac diameter and abnormal karyotypes
- No “masculinization” effect of a male on birth weight of its female co-twin
- Comparison of risk calculation approaches in a screening programme for Down syndrome
- Individual decisions in placenta increta and percreta: a case series
- Original Articles – Fetus
- Fetal sex and perinatal outcomes
- Fetal magnetocardiography (fMCG): moving forward in the establishment of clinical reference data by advanced biomagnetic instrumentation and analysis
- Maternal and fetal cord blood lipids in intrauterine growth restriction
- Assessment of long-axis ventricular function in the fetal heart with a tissue-tracking algorithm
- Original Articles – Newborn
- A cluster of methicillin-sensitive Staphylococcus aureus colonization in a nursery
- Intermittent flushing improves cannula patency compared to continuous infusion for peripherally inserted venous catheters in newborns: results from a prospective observational study
- Opinion Paper
- Cross-over training in neonatology and obstetrics
- Congress Calender
- Congress Calendar
- Masthead
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