Blackfan–Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation

Souka, Athena P.; Bower, Sarah; Geerts, L; Huggon, I. C.; Nicolaides, Kypros H.

doi:10.1046/j.1469-0705.2002.00753.x

Cited by 16 publications

(3 citation statements)

References 26 publications

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“…The high complication rates in pregnancies with fetuses with DBA were a consequence of fetal hypoxia due to anemia (detected at birth) prompting emergency preterm cesarean deliveries. While severely anemic fetuses can end in first trimester miscarriages, pregnancies that continue with anemic fetuses are at increased risk of premature delivery and may require intrauterine fetal transfusions . None of the affected offspring in our study received intrauterine transfusions, perhaps because anemia was only recognized at delivery or prompted preterm delivery of a hypoxic fetus.…”

Section: Discussionmentioning

confidence: 80%

“…Individuals with DBA and SDS often present with symptoms early in infancy and those with FA and DC generally within the first two decades of life . However, children with severe features within each syndrome may be symptomatic at birth or in utero as documented by several case reports . Prenatal disease manifestations in fetuses affected with an IBMFS may lead to increased complications in mothers’ pregnancies and result in adverse pregnancy outcomes.…”

Section: Introductionmentioning

confidence: 99%

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Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes

Giri

Reed

Stratton

et al. 2017

Pediatric Blood & Cancer

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Background: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". Methods:We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery. We compared outcomes of pregnancies with affected and unaffected offspring within each group of mothers and with the general population. Results:The rates of miscarriage (12-20%), elective abortion (5-10%), and live birth (68-78%) among mothers of all IBMFS groups were similar and comparable with general population rates but recurrent miscarriages (≥2) were significantly more common in mothers of offspring with DBA and SDS. Offspring with FA were more frequently born small for gestational age (SGA) than unaffected babies (39% vs. 4%) and had fetal malformations (46%) with 18% having three or more, often necessitating early delivery and surgery; offspring with DC had higher rates of SGA (39% vs. 8%) and fetal distress (26% vs. 3%); and offspring with DBA had fetal hypoxia (19% vs. 1%) leading to preterm and emergency cesarean deliveries (26% vs. 6%). Offspring with early-onset severe phenotypes had the most prenatal and peripartum adverse events. Conclusion:We identified the high-risk nature of pregnancies in mothers with IBMFS-affected fetuses, suggesting the need for prepregnancy counseling and monitoring of subsequent pregnancies by high-risk fetal-maternal specialists.

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Section: Discussionmentioning

confidence: 80%

Section: Introductionmentioning

confidence: 99%

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes

Giri

Reed

Stratton

et al. 2017

Pediatric Blood & Cancer

View full text Add to dashboard Cite

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“…There are a number of mechanisms that have been proposed for the nuchal thickening: structural cardiovascular abnormalities and/or abnormalities of myocardial performance, 6,[114][115][116][117] abnormalities of connective tissue composition, 7,8,[118][119][120] abnormalities or delay in lymphatic system formation, 66,67,121,122 increase in intrathoracic pressure, 48,[54][55][56][57][58][59][60][61] decrease in fetal movement, 50,[70][71][72] fetal hypoproteinemia, 69,123 fetal anemia, [73][74][75][76] and fetal infection. [77][78][79]124 It is likely that under different clinical circumstances, different mechanisms are in effect.…”

Section: Possible Mechanisms For Thickened Nuchal Translucencymentioning

confidence: 99%

First Trimester Ultrasound Screening: An Update

Sonek¹,

Glover²,

Zhou³

et al. 2010

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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For many years, the main use of ultrasound in the first trimester of pregnancy was to confirm viability and to establish gestational age. Indeed, the crown-rump length measurement in the first trimester remains the most accurate method to estimate the gestational age even today. However, improvements in ultrasound equipment and improvement in our understanding of normal and abnormal fetal development allows us now to perform a much more complete first trimester fetal evaluation. This pertains not only to the diagnosis of fetal anomalies but also to screening for fetal defects. The combination of the nuchal translucency measurement and maternal serum biochemistries (free β-hCG and PAPP-A) has been shown to be an extremely efficient way to screen for fetal aneuploidy. The addition of other first trimester markers such as the nasal bone evaluation, frontomaxillary facial angle measurement, and Doppler evaluation of blood flow across the tricuspid valve and through the ductus venosus improves the screening performance even further by increasing the detection rates and decreasing the false positive rates. Several of the first trimester markers also are useful in screening for cardiac defects. Furthermore, significant nuchal translucency thickening has been associated with a variety of genetic and nongenetic syndromes. A recently described first trimester marker called the intracerebral translucency appears to hold great promise in screening for open spine defects. Finally, it appears that a first trimester evaluation (uterine artery Doppler and the measurement of certain biochemical markers in the maternal serum) significantly improves the assessment of the risk of preeclampsia.

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First trimester ultrasonography in screening and detection of fetal anomalies

Sonek

2007

American J of Med Genetics Pt C

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An obstetrical ultrasound examination provides invaluable information regarding the fetus. Until the mid-1980s, ultrasound in the first trimester was limited to localization of the pregnancy, establishing viability, and accurate dating. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the patient at a very early stage in gestation. This article provides an overview of the role of first trimester (11-13 þ 6 weeks' gestation) ultrasound in screening and diagnosis of fetal anomalies. The first trimester is an ideal time for screening for aneuploidy, primarily due to the advantages that nuchal translucency (NT) measurement provides. NT measurement is also useful in establishing the risk of congenital cardiac disorders and a number of genetic and non-genetic syndromes. Significant NT thickening is associated with an increase in perinatal morbidity and mortality. Potential mechanisms resulting in increased NT are discussed. A number of new ultrasound markers for fetal aneuploidy have been investigated over the past several years, some of which appear to improve the screening efficacy of early ultrasonography. The role of these is reviewed. A number of fetal anomalies can now be consistently diagnosed in the first trimester. Their appearance at this early gestational age is discussed as well. It is clear that, data obtained by first trimester ultrasound are useful in counseling expectant parents and in planning the appropriate follow-up.

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Blackfan–Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation

Abstract: Blackfan

Cited by 16 publications

References 26 publications

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes

First Trimester Ultrasound Screening: An Update

First trimester ultrasonography in screening and detection of fetal anomalies

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