pinecone/core-2020-05-10-deduplication huggingface dataset:
Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations

Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype. We performed, retrospectively, fluorescent in situ hybridization (FISH) with the chromosome 18 centromere probe (L1.84) on interphase nuclei of destained slides of all cases of full trisomy 18 (n=22) and mosaic trisomy 18 (n=8) detected among 7600 first-trimester chorionic villus samples during an 8-year period (1985–1992). More nuclei displaying three signals were encountered in cases of full and mosaic trisomy 18 confirmed in fetal tissue than in non-confirmed cases. FISH can be useful for the verification of trisomy 18 in direct chorionic villus preparations
Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turnersyndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18=77.5 per cent)
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters

Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the deficiency of incorporation of radiolabel from [14C]isovaleric acid in macromolecules in cultured fibroblasts. This paper reports a consecutive series of 24 prenatal diagnoses in pregnancies at high risk, using both methods-metabolite and indirect enzyme assay. Affected fetuses were diagnosed in four pregnancies: three in the second trimester and one recent case in the first trimester. The latter represents the first reported case of a first-trimester diagnosis of IVA by direct analysis of chorionic villi. We also report the first demonstration of strongly accumulated IVG in the amniotic fluid in the 12th week of an affected pregnancy
A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei

Fluorescent in situ hybridization (FISH) with a 21q11-specific probe (CB21c1) consisting of three non-overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N = 19 and 28, respectively). In the uncultured amniocytes, six chromosome aberrations were detected: three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), and a mosaic 46,XY/47,XY,+dic(21)(q11)/48,XY,+dic(21)(q11), +del(21)(q11). In 15 cultured and 20 uncultured blood samples, FISH correctly diagnosed trisomy 21 (full or mosaic) at the interphase level, which was confirmed in all cases by subsequent karyotyping. Because of specific and strong signals in interphase nuclei, CB21c1 appears to be a useful tool for the rapid detection of chromosome 21 abnormalities
Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET)

We studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF–ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal age) and time of sampling. A total of 252 IVF–ET fetuses were cytogenetically analysed by either chorionic villus sampling (CVS; n = 80) or amniocentesis (n = 172). Eleven chromosome abnormalities were found in the CVS group (13·8 per cent); among them, a 45, X/46, X, dic(q11)/46, X, del(Y)(q11) mosaic that was found in an IVF pregnancy established by intracytoplasmic sperm injection (ICSI), four cases of trisomy 21, and three cases of trisomy 7 confined to the placenta. The results indicate a statistically significant three‐to five‐fold increase in both confined placental abnormalities (P<0·008) and true fetal chromosome anomalies (P<0·04). In the amniocentesis group, identical rates (1·7 per cent) of chromosome abnormalities were found in the IVF–ET and control groups. It is concluded that late first trimester, but not early second trimester, IVF–ET pregnancies are characterized by an increased frequency of cytogenetic abnormalities found at prenatal diagnosis. Copyrigh
The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia

Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to the division of prenatal diagnosis because of fetal tachycardia between 1982 and 1993. SVT was documented in 50 out of 51 fetuses, one of which displayed a combination of extensive rhabdomyomas and severe hydrops and died shortly after referral. In the other fetus ventricular tachycardia was diagnosed. Of the remaining 49 fetuses, 14 did not receive any prenatal treatment, but nine needed postnatal treatment. Transplacental treatment of SVT took place in 35 fetuses, of which 22 presented without hydrops and 13 with hydrops. These subsets differed significantly with respect to restoration of normal sinus rhythm (73% vs. 30%; p<0.001) and mortality (0% vs. 46%; p<0.001). Digoxin was effective in restoring sinus rhythm in 55 per cent of the non‐hydropic fetuses but in only eight per cent of the hydropic fetuses. Flecainide was effective in restoring sinus rhythm in all non‐hydropic fetuses where digoxin treatment failed, and in 43 per cent of hydropic fetuses. Administration of flecainide resulted in a significantly reduced mortality (p<0.001) compared with digoxin treatment. No adverse effects were seen. Postnatal anti‐arrhythmic treatment was necessary in 23 infants. Treatment could be withdrawn within one year in all cases but one. Copyrigh
Information and decision-making process for selective termination of dichorionic pregnancies: some French obstetricians' points of view.

International audienceBACKGROUND: In France, neither Bioethics Law nor law related to abortion make reference to selective terminations (ST). Because they apply in the context of multiple pregnancies, ST raises problems which differ from those we usually see in prenatal medicine.We wanted to know: 1) which approaches were used by obstetricians to inform couples about processes and risks of ST, 2) their role in the decision-making process of couples, and 3) their representations about the level of autonomy that couples are able to assume. METHODS: Qualitative research, eight semi-structured interviews performed with eight obstetricians from seven public hospitals in Parisian region. RESULTS: Similarities: *Necessity to devote a lot of time to information. *Importance to give the couples the maximum of time for reflection. *Belief that the final decision belongs to couples. Discordances: *Heterogeneity of revealed information. *Discrepancy in the will to assure a complete and non directive information transfer. *Divergence in representations of what is an ethical support. *Differences in the limits of the autonomy of couples. CONCLUSIONS: All physicians believe that they respect the autonomy of couples, arguing that final decision belongs to them. Paradoxically, some results are indicative of a sizeable level of directiveness from the physicians
Mussel-mimetic tissue adhesive for fetal membrane repair: a standardized ex vivo evaluation using elastomeric membranes

Objective\ud
Iatrogenic preterm premature rupture of membranes (iPPROM), the main complication of\ud
invasive interventions in the prenatal period, seriously limits the benefit of diagnostic or\ud
surgical prenatal procedures. This study aimed to evaluate preventive plugging of punctured\ud
fetal membranes in an ex vivo situation using a new mussel-mimetic tissue adhesive (mussel\ud
glue) to inhibit leakage.\ud
Methods\ud
A novel biomechanical test device that tests the closure of injured membranes under nearphysiological\ud
conditions was used. Mussel glue, a poly(ethylene glycol)-based hydrogel, was\ud
used to seal membrane defects of up to 3mm in mechanically well-defined elastomeric\ud
membranes with three different degrees of stiffness.\ud
Results\ud
Elastomeric test membranes were successfully employed for testing mussel glue under welldefined\ud
conditions. Mussel glue plugs were distended by up to 94%, which translated to an\ud
improved sealing efficiency on elastomeric membranes with high stiffness. For the stiffest\ud
membrane tested, a critical burst pressure of 48mbar (36mmHg) was accomplished in this ex\ud
vivo setting.\ud
Conclusions\ud
Mussel glue appears to efficiently seal membrane defects under well standardized ex vivo\ud
conditions. As repaired membranes resist pressures measured in amniotic cavities, mussel\ud
glue might represent a novel sealing method for iatrogenic membrane defects
Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: The experience in Queensland, Australia

Objective  Prenatal diagnosis of a chromosomal abnormality currently involves the use of an invasive procedure, which has a risk of fetal loss. The aim of this study was to identify whether pregnancies conceived via assisted reproductive technologies were more or less likely to be subjected to an invasive procedure compared with pregnancies that were conceived spontaneously. Method  Population data were collated from three private ultrasound clinics across southeast Queensland, Australia. Results  Of the 15?032 spontaneously conceived pregnancies, 775 (5.2%) had invasive testing, while 95 (6.0%) of the 1581 pregnancies conceived through assisted reproductive technologies had invasive testing. When the uptake of testing is adjusted by the maternal age the assisted reproductive population was significantly less likely to pursue invasive testing (p?=?0.003). Similarly when adjusted for the combined first trimester screen risk estimate, the assisted reproduction population is significantly less likely to undergo invasive testing than the spontaneous population (p?=?0.005). Conclusion  Pregnancies conceived using assisted reproductive technologies are significantly less likely to be subjected to invasive testing than pregnancies conceived spontaneously in women of the same age and combined first trimester screen risk.Griffith Sciences, School of Natural SciencesFull Tex
Clinical and socioeconomic predictors of pregnancy termination for fetuses with congenital heart defects: a population-based evaluation.
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Pregnancy termination for fetuses with CHD

International audienceOBJECTIVES: This study aims to (1) evaluate the probability and timing of termination of pregnancy for fetal anomaly (TOPFA) for all congenital heart defects (CHD) and categories of CHD and (2) assess clinical and socioeconomic predictors of TOPFA for isolated CHD excluding ventricular septal defects (VSD). METHODS: Using population-based data from the Paris Registry of Congenital Malformations, we assessed the probability of TOPFA and gestational age at TOPFA. We used logistic regression to estimate the adjusted effects of maternal characteristics, clinical factors (CHD type, fetal growth restriction, nuchal translucency measurement and gestational age at prenatal diagnosis) on the odds of TOPFA. RESULTS: The proportion of TOPFA for prenatally diagnosed CHD was 46% for all CHD combined, 82% for CHD associated with chromosomal anomalies and 27% for isolated CHD-VSD excluded. Isolated CHD-VSD excluded diagnosed before 22 weeks of gestational age had a 3.2-fold higher odds of TOPFA (adjusted OR 3.2, 95%CI 1.4-7.1). Maternal occupation was not associated with the odds of TOPFA. Women of African origin had a tenfold lower odds of TOPFA than women of French origin (adjusted OR 0.1, 95%CI 0.02-0.4). CONCLUSION: In addition to severity of CHD, early prenatal diagnosis and maternal characteristics were highly associated with the probability of TOPFA for CHD
Prenatal diagnosis of mosaic tetrasomy 18p

To report the case of a prenatally detected de novo mosaic tetrasomy 18p where a combination of different methodologies was used,including conventional cytogenetics and molecular genetics techniques. METHOD: Molecular rapid aneuploidy diagnosis, by quantitative fluorescent polymerase chain reaction (QF-PCR), conventional cytogenetics and fluorescence in situ hybridization (FISH). RESULTS:Amniocentesis was performed at
22 + 5 gestational weeks, on a 37-year-old woman, due to ultrasound detection of fetal interventricular communication, overlapped fingers and unilateral club foot. Molecular rapid aneuploidy testing, by QF-PCR, showed highly increased ratios for markers on the short arm of chromosome 18. Cytogenetic analysis revealed a male karyotype with mosaicism involving two cell lines: one with a supernumerary isochromosome 18p and another with two extra derivative chromosomes 18. Parental karyotypes were normal and QF-PCR analysis indicated that the extra chromosome 18p material was of maternal origin.
After counseling the couple opted for pregnancy termination. Anatomopathological studies, as well as further characterization of the derivative chromosomes, are underway in order to provide more accurate genotype-correlation. CONCLUSIONS: The majority of tetrasomy 18p reported cases were ascertained postnatally, had a de novo occurrence and an isochromosome 18p in all cells examined. Prenatal diagnoses of mosaic tetrasomy 18p are, on the other hand, rarely described in the literature. The case herein reported, where a mosaic is present and none of the cell lines is chromosomally normal, may provide further insight on this rare syndrome and help in the knowledge of the associated phenotype. The application of a combined strategy, using QF-PCR, conventional cytogenetics and FISH analysis allowed not only for the identification of the extra chromosome 18p material, in the form of a mosaicism involving isochromosome 18p, but also for determining its parental origin. This information is of particular importance in recurrence risk assessment and therefore crucial for genetic counseling
Maternal coping, appraisals and adjustment following diagnosis of fetal anomaly.

OBJECTIVE: So far, associations between appraisals, maternal adjustment and coping following diagnosis of fetal anomaly have not been investigated in women who continue with their pregnancy.
METHOD: This study measured maternal coping and adjustment after and appraisal of a diagnosis of fetal anomaly in 40 mothers who had continued with their pregnancy using a cross-sectional questionnaire design.
RESULTS: Based on retrospective reporting, 35% of participants met full diagnostic criteria for post-traumatic stress disorder after having received the diagnosis. Women were significantly more depressed (p &lt; 0.001) and anxious (p &lt; 0.001) and reported significantly less positive affect (p &lt; 0.05) after having received the diagnosis in comparison to the time after childbirth. There were no significant differences between emotion-focused and problem-focused coping. Stressful life events, women's age, number of people providing support and problem-focused coping explained 57.6% of variance in anxiety and depression after childbirth. Satisfaction with social support, emotion-focused coping and problem-focused coping significantly explained 40.6% of variance in positive affect after childbirth.
CONCLUSION: Following a prenatal diagnosis and for the remainder of their pregnancy, particular attention should be paid to older mothers, those experiencing additional stressful life events and those who are socially isolated, as these women may experience greater distress after childbirth
Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK

OBJECTIVE The objective of this study was to explore the attitudes of obstetricians in Australia, New Zealand and the UK towards prenatally diagnosed trisomy 18 (T18). METHOD Obstetricians were contacted by email and invited to participate in an anonymous electronic survey. RESULTS Survey responses were obtained from 1018/3717 (27%) practicing obstetricians/gynaecologists. Most (60%) had managed a case of T18 in the last 2 years. Eighty-five per cent believed that T18 was a ‘lethal malformation’, although 38% expected at least half of liveborn infants to survive for more than 1 week. Twenty-one per cent indicated that a vegetative existence was the best developmental outcome for surviving children. In a case of antenatally diagnosed T18, 95% of obstetricians would provide a mother with the option of termination. If requested, 99% would provide maternal-focused obstetric care (aimed at maternal wellbeing rather than fetal survival), whereas 80% would provide fetal-oriented obstetric care (to maximise fetal survival). Twenty-eight per cent would never discuss the option of caesarean; 21% would always discuss this option. Management options, attitudes and knowledge of T18 were associated with location, practice type, gender and religion of obstetricians. CONCLUSION There is variability in obstetricians' attitudes towards T18, with significant implications for management of affected pregnancies.D. J. C. Wilkinson, L. de Crespigny, C. Lees, J. Savulescu, P. Thiele, T. Tran and A. Watkin
Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009)

Objective: The objective of this article is to analyse the positive predictive value (PPV) of trisomies 21, 18 and 13 after referral for advanced maternal age (AMA), first trimester combined test or ultrasound findings to suggest improvements for clinical practice. Methods: Data (48457 combined tests, 134000 fetal anomaly scans and 24379 invasive prenatal tests) were combined to calculate PPV and termination of pregnancy rates. Results: For referral for AMA, the PPV for T21 was 1.0% and 1.8% for amniocentesis and chorionic villus biopsy, respectively; for the combined test at a maternal age ≥36years, these percentages were 4.9% and 12.5%, respectively and for maternal age <36years, 4.4% and 8.1%, respectively. For ultrasound findings, the PPV was 5.3% and 14.8%, respectively. Termination of pregnancy rate upon trisomy 21 diagnosis was >90% unless detected after referral for ultrasound findings (71.5-85.9%). About 50% of pregnant women with a high combined test risk chose not to have invasive testing. Conclusions: Advanced MA is still a large contributor to invasive testing but should be abandoned (low PPV, high fetal loss rate) and be replaced by reimbursable combined test screening for all women. Patient information on second trimester ultrasound screening should indicate that abnormal ultrasound findings are associated with high trisomy rate
Simplified first-trimester fetal cardiac screening (four chamber view and ventricular outflow tracts) in a low-risk population

Objectives Our aim was to assess the accuracy of a simplified fetal cardiac study, inclusive of four-chamber view (4CV)\ud
and ventricular outflow tracts, performed during the 11–14 week screening by well-trained obstetricians to detect\ud
congenital heart diseases (CHDs).\ud
Methods A transabdominal ultrasound was performed on 4820 singleton pregnant women at 11–14 weeks to visualize\ud
the visceral site, the 4CV, and the outflow tracts. Neonatal outcomes were recorded 6 and 12 months after birth.\ud
Results Among the 4820 patients reviewed, 790 were excluded because of loss at prenatal or postnatal follow-up (649\ud
cases), or inability to obtain adequate first-trimester sonographic cardiac evaluation (141 cases). Among the 4030\ud
included cases, 32 CHD cases were detected (20 major and 12 minor); 18 of the major (90%) and five of the minor\ud
(42%) were detected or suspected in the first trimester, one major and six minor in the second trimester, and one\ud
major and one minor only after birth.\ud
Conclusions A simplified protocol is an effective tool to screen for CHD at 11–14 weeks
Reproducibility of measuring amniotic fluid index and single deepest vertical pool throughout gestation

Objective: The aim of this study is to assess the intraobserver and interobserver reproducibility of measurement of amniotic fluid index (AFI) and single deepest vertical pool (SDVP), also known as the maximal vertical pocket.
Methods: A total of 175 fetuses were evaluated. For each fetus, two observers acquired duplicate sets of AFI and SDVP. Measurement differences were expressed as actual and percentage values. For all comparisons, Bland-Altman plots were used to compare differences, and limits of agreement were calculated.
Results: Intraobserver and interobserver agreement remained fairly constant with gestation, both for AFI and SDVP. The intraobserver limits of agreement for AFI were -5.2 to 5 cm or -39% to 37%; whereas for SDVP, these were -2.6 to 2.4 cm or -52% to 48%. The interobserver limits of agreement for AFI measurement were -7.3 to 7.1 cm or -54% to 53% and for SDVP measurement were -2.5 to 2.5 cm or -51% to 52%. Intraobserver coefficient of variation for SDVP was 14% and for AFI was 19%; the interobserver coefficient was 19% for both AFI and SDVP.
Conclusion: Limits of agreement for both methods are wide. The choice of method should be dictated by clinical considerations other than method reproducibilit