Correlation of prenatal sonographic diagnosis and morphologic findings of fetal autopsy in fetuses with trisomy 21.
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OBJECTIVE: The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21. METHODS: Among 22,150 fetal chromosome analyses, trisomy 21 was diagnosed in 207 fetuses between 1990 and 2004. Findings of second-trimester sonography and fetal autopsy were compared by organ system, and their correlation was assigned to 1 of 3 categories. RESULTS: In total, 83.1% of the 184 fetuses that constituted the final study group had 1 or more abnormal structural findings at postabortion pathologic examination, whereas in 16.9% of the cases, fetal pathologic examination did not reveal any defects in fetal anatomy. Among major structural defects, the agreement between sonographic and autopsy findings was greater than 60% of all abnormalities of these systems: central nervous system (65.4%), heart (67.4%), fetal hydrops (100%), and cystic hygroma (93.3%), whereas the concordance rate was lower in these organ systems: abdominal abnormalities (46.2%), renal anomalies (50%), facial abnormalities (1.2%), and extremities (4.4%). The rate of additional major findings at autopsy was 34.2%. These mainly involved 3 organ systems: heart, head, and abdominal anomalies. Some sonographic findings (n = 16) were not verified at autopsy. The concordances between sonographic and autopsy findings regarding soft markers were considerably high in these markers: increased nuchal fold thickness (72%), short femur/humerus (75%), and pyelectasis (51.9%). CONCLUSIONS: Examining the correlation between sonography and pathologic findings may indicate possible directions of further development in sonographic screening for trisomy 21. In addition to obstetricians, pediatricians, and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations. (+info)
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
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BACKGROUND: The phenotypic variability in Beckwith-Wiedemann syndrome (BWS) reflects the genetic heterogeneity of the mechanism which by default leads to the deregulation of genes located at 11p15.5. Genotype-phenotype correlation studies have demonstrated an association between omphalocoele and CDKN1C/p57 mutations or hypermethylation. Paternal uniparental disomy 11 (pUPD11) has been described only in the mosaic condition with both uniparental and biparental cell lines, and no association with omphalocoele has been pointed out. METHODS: Two cases are presented here, in which a paternal segmental UPD11 was detected by molecular investigation of amniotic fluid cell cultures after the presence of apparently isolated omphalocoele was revealed in the fetuses by ultrasound scan. Further studies were performed on additional autoptic feto-placental tissues to characterise the distribution of the uniparental cell line and to unmask any biparental lineage in order to document in more detail the as yet unreported association between omphalocoele and pUPD11. RESULTS: Results on the UPD distribution profile showed that the abdominal organs have a predominant uniparental constitution. This condition could mimic the effect of CDKN1C/p57 inactivation, causing the omphalocoele. CONCLUSION: New genotype-phenotype correlations emerge from the investigated cases, suggesting that molecular analysis be extended to all cases with fetal omphalocoele in order to establish the incidence of pUPD11 in complete BWS and in monosymptomatic/mild forms. (+info)
Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.
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Prenatal discovery of fetal bilateral hyperechogenic kidneys is very stressful for pregnant women and their family, and accurate diagnosis of the cause of the moderate forms of this pathology is very difficult. Hepatocyte nuclear factor-1beta that is encoded by the TCF2 gene is involved in the embryonic development of the kidneys. Sixty-two pregnancies with fetal bilateral hyperechogenic kidneys including 25 fetuses with inaccurate diagnosis were studied. TCF2 gene anomalies were detected in 18 (29%) of these 62 patients, and 15 of these 18 patients presented a complete heterozygous deletion of the TCF2 gene. Family screening revealed de novo TCF2 anomalies in more than half of the patients. TCF2 anomalies were associated with normal amniotic fluid volume and normal-sized kidneys between -2 and +2 SD in all patients except for two sisters. Antenatal cysts were detected in 11 of 18 patients, unilaterally in eight of 11. After birth, cysts appeared during the first year (17 of 18), and in patients with antenatal cysts, the number increased and developed bilaterally with decreased renal growth. In these 18 patients, the GFR decreased with longer follow-up and was lower in patients with solitary functioning dysplastic kidney. Heterozygous deletion of the TCF2 gene is an important cause of fetal hyperechogenic kidneys in this study and showed to be linked with early disease expression. The renal phenotype and the postnatal evolution were extremely variable and need a prospective long-term follow-up. Extrarenal manifestations are frequent in TCF2-linked pathologies. Therefore, prenatal counseling and follow-up should be multidisciplinary. (+info)
Effects of residential distance to hospitals with neonatal surgery care on prenatal management and outcome of pregnancies with severe fetal malformations.
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OBJECTIVES: To examine the effect of maternal origin and distance between maternal residence and the nearest maternity ward with a neonatal surgical center in the same hospital, on prenatal diagnosis, elective termination of pregnancy, delivery in an adequate place and neonatal mortality for pregnancies with severe malformations requiring neonatal surgery, and to examine the effect of the place of delivery on neonatal mortality. METHODS: This was a retrospective study, through the France Central-East malformation registry, of 706 fetuses with omphalocele (n = 123), gastroschisis (n = 99), diaphragmatic hernia (n = 222), or spina bifida (n = 262), but without chromosomal anomalies. Maternal origin was classified as Western European and non-Western European. Adequate place for delivery was defined as birth in a Level-III maternity ward with a neonatal surgical center in the same hospital. RESULTS: The prenatal diagnosis rate was 67.7% in 1990-1995 and 80.2% in 1996-2001 (odds ratio (OR), 2.07 (95% CI, 1.24-3.45)). On multivariate analysis, the rate was significantly lower for women living 11-50 km (adjusted OR, 0.49 (95% CI, 0.25-0.94)), or > 50 km (adjusted OR, 0.39 (0.20-0.74)) from the closest adequate place of delivery, compared with those living < 11 km from it, but there was no difference for maternal origin. Non-Western European women had fewer elective terminations of pregnancy (adjusted OR, 0.34 (95% CI, 0.14-0.81)) and fewer deliveries in an adequate place (adjusted OR, 0.40 (95% CI, 0.18-0.89)). Neonatal mortality was lower in the case of delivery in an adequate place (adjusted OR, 0.22 (95% CI, 0.07-0.72)) and was not associated with maternal origin and distance from nearest maternity ward with a neonatal surgical center. CONCLUSION: Rate of prenatal diagnosis decreases with increasing distance between parental residence and referral center. Non-Western European women are diagnosed prenatally as often as are Western Europeans, but terminate their pregnancy less often, perhaps for cultural reasons. Non-Western European women with malformed fetuses deliver in adequate centers less often, probably because of the way the perinatal care system is run. (+info)
First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness.
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A series of five cases of skeletal dysplasia is reported in which the diagnosis was reached at the 11-14-week routine ultrasound examination in our referral center. All five cases had increased nuchal translucency thickness (NT) associated with bone abnormalities. We review the current literature on skeletal dysplasia in the first trimester of pregnancy associated with increased NT. (+info)
Opinions of decision-makers on the liberalization of abortion laws in Mexico.
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OBJECTIVE: In the last decade, important advances were made in the struggle for reproductive rights in Mexico. The goal of this study was to discover the opinions of decision-makers about the grounds for legal abortion as well as to explore their perceptions about further liberalization of abortion laws countrywide. MATERIAL AND METHODS: In-depth interviews were conducted with eight prominent decision-makers working in governmental health, law and social institutions as well as representatives of political parties. RESULTS: Six decision-makers favored a further liberalization of abortion laws. They proposed several strategies to move forward with liberalization. Two decision-makers were against abortion under all circumstances. CONCLUSIONS: Three factors seem to play a key role in the liberalization of abortion: a liberal party governing at the state level, a favorable public opinion and the pressure of NGOs promoting reproductive rights. A state-by-state approach seems more effective for generating changes in abortion laws. (+info)
Attitudes toward abortion among parents of children with cystic fibrosis.
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BACKGROUND: DNA prenatal diagnosis for cystic fibrosis (CF) has been available for parents of affected children since late 1985. METHODS: Using anonymous questionnaires, we surveyed 395 parents of children with CF at 12 New England CF centers with regard to 12 maternal or family situations and 11 fetal characteristics; 271 (68%) responded. RESULTS: The majority supported legal abortion in the first trimester for all 23 situations; 58% would abort for severe mental retardation (MR), 40% would abort for a genetic disorder leading to death before age five years, 41% for a child bedridden for life, 35% for moderate MR, 20% for CF and 17% for a severe incurable disorder starting at age 40 years. Few would abort for a disorder starting at age 60 years, for genetic susceptibility to alcoholism or for sex selection. Variables most strongly related to abortion for CF were attitudes of spouse, respondent's siblings, and CF doctor toward abortion for CF as well as infrequent attendance at religious services. CONCLUSIONS: Prenatal diagnosis may not reduce substantially the number of CF births to parents of CF children because most do not accept abortion for CF. (+info)
Twenty-year trends in prevalence and survival of Down syndrome.
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