FeaturesComparative genomic hybridization for cytogenetic evaluation of stillbirth☆
Section snippets
Materials and methods
We studied tissues of two groups of fetuses of various gestational ages. The first group (n = 16) comprised fetuses whose karyotypes had been determined before or after birth, including seven cases of pregnancy termination for genetic reasons (fresh tissues) and nine stillborn fetuses (macerated tissues). The second group (n = 10) were stillborn fetuses without known karyotypes because of tissue culture failures. All material was taken with patients’ consent either to confirm antenatal
Results
Tissues from the 16 fetuses with known karyotypes were used to ascertain reliability of comparative genomic hybridization in fresh (n = 7) and macerated (n = 9) specimens at various gestational ages (Table 1). Gestational ages ranged from 12–34 weeks. Comparative genomic hybridization results were obtained in all samples but one. Five fetuses had normal karyotypes (all female) and were correctly identified by comparative genomic hybridization, including their sexes (Figure 1). Ten fetuses
Discussion
In liveborn infants, postnatal karyotyping usually succeeds. However, in stillborn fetuses there is an overall success rate of only 60%, and even less with increased time since death. In our study, eight of 18 (44%) macerated stillborn fetuses were karyotyped successfully. Until now only a few studies have described the usefulness of comparative genomic hybridization in perinatal medicine. Bryndorf et al15 studied 11 fetal samples. Four were prenatal cases with unidentifiable material that was
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Cited by (16)
Stillbirth: Evaluation and Follow-up
2020, Obstetrics and Gynecology Clinics of North AmericaCitation Excerpt :Genetic testing can provide important information regarding the pathophysiologic process leading to stillbirth. Genetic abnormalities have been implicated in 6% to 17% of stillbirths with higher rates in those complicated by fetal anomalies.19–21 Technologies for genetic testing include karyotype, chromosomal microarray, and evolving new techniques, such as whole-genome or whole-exome sequencing.
Work-up of stillbirth: a review of the evidence
2007, American Journal of Obstetrics and GynecologyCitation Excerpt :The most straightforward genetic etiology for stillbirth is karyotypic abnormalities. These are present in approximately 6-12% of stillbirths.11,12 However, in many cases of stillbirth, it is not possible to successfully culture cells to determine karyotype.
Comparative genomic hybridization analysis of spontaneous abortion
2006, International Journal of Gynecology and ObstetricsEtiology and prevention of stillbirth
2005, American Journal of Obstetrics and GynecologyCitation Excerpt :If amniotic fluid is unavailable, a sample of fetal blood, skin, or fascia lata will be best sources of tissue for culture. The use of a cytogenetic evaluation decreases with the duration of time that the infant has been dead, so reserving placental tissue for fluorescence in situ hybridization (FISH) in a buffered saline solution is an alternative method of determining whether the infant had a common chromosomal abnormality.118,119 With the use of a protocol of autopsy, evaluation of the cord/placenta and membranes, and laboratory tests of fasting glucose, a Kleihauer-Betke test, urine toxicology and hemoglobin A1c in selected cases, and a thrombophilia workup in normally formed infants, Incerpi et al113 were able to attribute a primary cause of death in 72% of cases of stillbirth, leaving only 28% as “unexplained.”
Genetics and metabolic causes of stillbirth
2002, Seminars in PerinatologyEvaluation of stillbirth
2018, Current Opinion in Obstetrics and Gynecology
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Supported by the Wim Schellekens Foundation.