bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis and long survival of Fryns' syndrome
Authors: Gadow E. C. , Lippold S. , Serafin E. , Salgado L. J. , Garcia C. , Prudent L. 
Published: March 2007

AbstractWe report on a case of Fryns' syndrome diagnosed prenatally in a woman with no family history of this disorder. A computerized database was used for the differential diagnosis. Intensive perinatal care resulted in prolonged survival, which is unusual in individuals with Fryns' syndrome. This case provides further delineation of the developmental course in patients with this condition.
Karyotype abnormalities in fetuses diagnosed as abnormal on ultrasound before 20 weeks' gestational age
Authors: Halliday Jane , Lumley Judith , Bankier Agnes 
Published: March 2007

AbstractThis study examined rates of karyotype abnormalities in fetuses diagnosed by ultrasound as abnormal before 20 weeks' gestational age and which prompted a follow‐up amniocentesis or chorionic villus sampling. Those diagnosed before 20 weeks were compared with those diagnosed at or after 20 weeks. A retrospective study identified ultrasonographically abnormal fetuses in whom karyotyping had been undertaken, 306 fetuses before 20 weeks' gestational age and 241 after. Isolated malformations before 20 weeks had, on average, an 18 per cent risk of karyotype abnormality, compared with 20 per cent later. Specific rates were calculated; for example, heart abnormality was associated with karyotype abnormality in 7 per cent of cases before 20 weeks and in 14 per cent later. Multiple malformations and karyotype abnormalities were found together in 28 per cent of fetuses prior to 20 weeks and in 33 per cent of the older fetuses. Specific associations included nuchal oedema and trisomy 21 in 21 per cent of fetuses before 20 weeks. No karyotype abnormalities were found in fetuses diagnosed with choroid plexus cysts. An overview of trisomies in Victoria, in 1991, showed that 50 per cent of trisomy 18, 42 per cent of trisomy 13, and 9·5 per cent of trisomy 21 cases were identified by ultrasound in women less than 37 years of age. Another 28·6 per cent of trisomy 21 fetuses were detected in women of advanced maternal age who underwent amniocentesis or chorionic villus sampling, making a total of 38·1 per cent of trisomy 21 that were detected prenatally. The importance of early karyotyping specifically relates to the ongoing management of the pregnancy if the chromosomes are normal, and facilitates decision‐making regarding termination of pregnancy if the chromosomes are abnormal.
Value of maternal serum unconjugated oestriol measurement in prenatal screening for Down's syndrome
Authors: Wald Nicholas J. , Kennard Anne , Watt Hilary C. , Smith David 
Published: March 2007

AbstractWe compared the medical and financial cost‐effectiveness of prenatal serum screening for Down's syndrome using maternal age, serum alpha‐fetoprotein and human chorionic gonadotrophin with and without the use of unconjugated oestriol. The use of unconjugated oestriol is medically more cost‐effective than screening without it at all levels of detection. The actual performance depends on whether gestational age is estimated using ‘dates’ or an ultrasound scan. At a detection rate of 60 per cent, the proportion of unaffected fetal losses per case diagnosed at amniocentesis is about 22 per cent less if gestational age is estimated using dates (time since the first day of the last menstrual period) and about 47 per cent less if it is based on an ultrasound scan examination. At this detection rate, the inclusion of unconjugated oestriol increases costs by about £2k per case diagnosed (£36k instead of £34k) if gestational age is estimated using dates, but it is no more expensive if gestational age is measured from an ultrasound scan examination (indeed, it is more cost‐effective at detection rates above 60 per cent). Since there is little change in the financial cost with the inclusion of unconjugated oestriol, for the improved medical performance of screening, it is worthwhile including it in the screening test.
Prenatally diagnosed non‐immune hydrops caused by congenital transient leukaemia
Authors: Donnenfeld Alan E. , Scott Steven C. , Henselder‐Kimmel Marie , Dampier Carlton D. 
Published: March 2007

AbstractCongenital transient leukaemia (CTL) is a haematological disorder characterized by proliferation of myeloblasts within the bone marrow and peripheral blood of affected newborns. Infants with Down syndrome are most frequently affected and although the disorder can result in fetal death due to hydrops, it typically resolves spontaneously after birth. We present a case of prenatally diagnosed fetal hydrops accompanied by splenomegaly and an enlarged, echogenic liver in a fetus identified with CTL after birth.
Gorlin syndrome (naevoid basal cell carcinoma syndrome): Prenatal detection in a fetus with macrocephaly and ventriculomegaly
Authors: Hogge W. Allen , Blank Carol , Roochvarg Linda B. , Hogge Joan S. , Wulfsberg Eric A. , Raffel Leslie J. 
Published: March 2007

AbstractThe Gorlin (naevoid basal cell carcinoma) syndrome is an autosomal dominant disorder consisting principally of naevoid basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and intracranial calcification. We report the prenatal detection of the Gorlin syndrome by ultrasonography in a fetus with macrocephaly and mild ventriculomegaly.
The imprecision in rates of down syndrome by 1‐year maternal age intervals: A critical analysis of rates used in biochemical screening
Authors: Hecht Christina A. , Hook Ernest B. 
Published: March 2007

AbstractCurrent algorithms to determine eligibility for prenatal cytogenetic diagnostic services depend critically on the accuracy and precision of the underlying rates of cytogenetic abnormality used in the calculations. We examine the maternal age‐specific rates of Down syndrome livebirths in eight studies of European‐origin populations, pooled rates from which are widely used for baseline calculations in biochemical screening. These studies vary significantly in such factors as methods of ascertainment of cases, likelihood of complete ascertainment, and methods of correction, if any, for underascertainment. Restriction of analysis to those two studies among the eight whose methods suggest the greatest likelihood of complete ascertainment for Down syndrome generates rates significantly higher than those in widespread use. Confidence intervals about previously reported and currently derived rates indicate that even with large‐scale data, there is considerable residual uncertainty in derived rates.
Fetal ear measurements in the prenatal detection of trisomy 21
Authors: Gill Prabhcharan , Vanhook James , Fitzsimmons Jack , Pascoe‐Mason Julie , Fantel Alan 
Published: March 2007

AbstractAlthough prominent fetal nuchal folds, short long bones, echogenic bowel, and renal pelviectasis have been shown to be associated with trisomy 21, none has acceptable diagnostic efficacy. Diminished fetal ear lengths measured by ultrasound have recently been reported as yet another potential morphological marker for the prenatal detection of trisomy 21. To investigate this further, we measured ear lengths and widths of normal (n = 107) and trisomy 21 (n = 25) second‐trimester formalin‐preserved fetuses. The normal ear growth characteristics are described and compared with those of trisomy 21 fetuses. The normal fetal ear shape, not unlike that of the neonates, manifested a marked variation. When the ear lengths and widths were regressed against gestational age, the slopes of the regression lines for the two groups were found to be different (P < 0·001). However, despite the statistically significant difference between the ear sizes of normal and trisomy 21 fetuses, the wide range of normal variation seen at each gestational age means that the fetal ear measurements are not diagnostically helpful.
Prenatal diagnosis of klippel—trénaunay—weber syndrome by ultrasound
Authors: Yankowitz Jerome , Slagel Daniel D. , Williamson Roger 
Published: March 2007

AbstractUltrasound examination due to an elevated maternal serum alpha‐fetoprotein level showed lower extremity asymmetry. The findings were felt to be consistent with Klippel—Trénaunay—Weber syndrome. The pregnancy was terminated based on these findings. The ultrasound findings, confirming post‐mortem examination, and counselling issues are discussed.
Human maternal uniparental disomy for chromosome 16 and fetal development
Authors: Vaughan Janet , Ali Zehra , Bower Sarah , Bennett Phillip , Chard Tim , Moore Gudrun 
Published: March 2007

AbstractTwo severely growth‐retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha‐fetoprotein concentration, preterm premature rupture of the membranes, and growth retardation detectable at 21 weeks' gestation, whilst the other had an unexplained raised maternal serum human chorionic gonadotrophin level, a two‐vessel cord on ultrasound, and cessation of growth at 25 weeks. At post‐mortem, both babies had an imperforate anus. Fetal maternal UPD may explain the poor outcome that occurs in some cases of confined placental mosaicism for chromosome 16 and is also associated with specific fetal abnormalities.
Fetal hypothyroidism as a complication of amiodarone treatment for persistent fetal supraventricular tachycardia
Authors: De Catte Luc , De Wolf Daniel , Smitz Johan , Bougatef Adel , De Schepper Jean , Foulon Walter 
Published: March 2007

AbstractWe present a case of persistent fetal supraventricular tachycardia where transplacental and direct fetal treatment with amiodarone caused an iatrogenic hypothyroidism. This condition was successfully managed with the intra‐amniotic instillation of 250 μg of L‐thyroxine weekly, for 3 weeks. A male infant was delivered at 32 weeks by Caesarean section. The neonatal electrocardiogram showed Wolf‐Parkinson‐White (WPW) syndrome, which was controlled by digoxin alone. Thyroid function normalized quickly and the baby is developing normally.
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation
Authors: Bunge Susanna , Steglich Cordula , Lorenz Peter , Beck Michael , Xu Suying , Hopwood John J. , Gal Andreas 
Published: March 2007

AbstractIdentification of iduronate‐2‐sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.
Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies
Authors: Stoll C. , Alembik Y. , Dott B. , Roth M. P. 
Published: March 2007

AbstractPrenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in our region. How many fetal anomalies are actually detected by this procedure? We have used our registry of congenital malformations to answer this question regarding limb reduction defects (LRDs). The mean time of detection of LRDs was 26 weeks of pregnancy (range 16–32 weeks). The sensitivity of prenatal diagnosis of LRDs by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiply malformed children with LRDs, 4·0 and 18·2 per cent, respectively. For all cases of LRDs, the percentage of prenatal detection was 11·5. Termination of pregnancy was performed in 6·7 per cent of the cases.
Umbilical artery velocity waveforms before and after chorionic villus sampling
Authors: Ibba Rosa Maria , Monni Giovanni , Olla Giovanni , Cao Antonio 
Published: March 2007

AbstractBecause a vascular aetiology has been suggested for the limb and oromandibular defects described after chorionic villus sampling (CVS), to determine whether transabdominal (TA) CVS causes noticeable changes in umbilical artery velocity waveforms in first‐trimester pregnancies, the pulsatility index (PI) of the umbilical artery was evaluated before and after TA‐CVS in 175 pregnancies sampled between 10·0 and 13·0 weeks' gestation. In 139 uncomplicated pregnancies, the mean PI values (with 95 per cent confidence interval) were before TA‐CVS 2·751 (2·692–2·809), after 10 min 2·723 (2·697–2·809), and after 1 h 2·781 (2·722–2·840). There were no significant changes in PI relative to the CVS procedure either in pregnancies with an abnormal result or in those ending in spontaneous abortion. Our data do not support any statistically significant change in umbilical artery PI relative to TA‐CVS in first‐trimester pregnancies. This procedure, despite its invasive character, does not appear to affect the feto‐placental circulation.
Transplacental amniocentesis: Is it really a higher‐risk procedure?
Authors: Giorlandino Claudio , Mobili Luisa , Bilancioni Elena , D'alessio Paoloa , Carcioppolo Ornella , Gentili Paolo , Vizzone Antonio 
Published: March 2007

AbstractThe aim of this study was to compare transplacental with non‐transplacental amniocentesis in terms of related complications. Between January 1991 and December 1992, 4564 genetic amniocenteses were performed in 4527 patients (4491 singleton, 35 twin, and one triplet pregnancy) at 15–16 weeks of gestation. All the procedures were ultrasound‐guided and performed by the same operator. In 1487 cases, an anterior placenta was traversed with the needle, whereas in 3077 cases, the needle was inserted directly into the amniotic cavity without traversing the placenta. After the exclusion of patients in whom amniotic cell culture failed or in whom an abnormal karyotype was obtained, and of patients lost to follow‐up, a total of 4454 patients (98 per cent) were followed for 30 days after amniocentesis. Two spontaneous abortions occurred after a transplacental procedure, and five after a non‐transplacental procedure (P = not significant). There were no episodes of amniotic fluid leakage in the first group, whereas 16 ruptures of the membranes that resolved spontaneously occurred in the second group (P<0·01). Our data suggest that transplacental amniocentesis carries a similar abortive risk to and a lower risk of transient rupture of the membranes than non‐transplacental amniocentesis and may therefore be preferred at the gestational period examined (15–16 weeks). However, the risk of feto‐maternal haemorrhage, which is reported to be higher for a transplacental procedure, must be considered in the case of an anterior placenta.
The value of sonographic diagnosis of fetal malformations: Different results between indication‐based and screening‐based investigations
Authors: Bernaschek Gerhard , Stuempflen Ingrid , Deutinger Josef 
Published: March 2007

AbstractThe advantages of a routine screening or indication‐based ultrasound investigation during pregnancy are still under debate. This is the first study where both methods are compared in two different time periods. More malformations were diagnosed before the 24th week of gestation by means of screening‐based than indication‐based investigation (18 per cent vs. 5 per cent, P<0·005), and before 28 weeks in 26 per cent compared with 15 per cent respectively (P<0·01). Twenty‐six per cent of all malformations were detected by means of screening‐based investigations as opposed to 15 per cent by means of indication‐based scans. Primary fetal malformations were also diagnosed much earlier (25 weeks vs. 30 weeks). Except for the fetal head, the detection rate of malformations was higher in nearly all other body regions of the fetus in the screening‐based investigation. The most important advantage of a screening‐based ultrasound investigation during pregnancy is to detect the malformations early enough in pregnancy for possible intrauterine treatment or to offer safe termination of pregnancy for the woman, at least for those anomalies that are lethal or significantly handicapping.
Pitfalls in the prenatal diagnosis of peroxisomal β‐oxidation defects by chorionic villus sampling
Authors: Carey W. F. , Poulos A. , Sharp P. , Nelson P. V. , Robertson E. F. , Hughes J. L. , Gill A. 
Published: March 2007

AbstractVariability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β‐oxidation defect, and the other at risk for the X‐linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β‐oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X‐linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow‐up confirmed that the fetus was indeed affected by ALD.
Maternal serum free α‐ and free β‐human chorionic gonadotrophin in pregnancies with insulin‐dependent diabetes mellitus: Implications for screening for Down's syndrome
Authors: Wald N. J. , Densem J. W. , Cheng R. , Collishaw S. 
Published: March 2007

AbstractA study was performed to investigate the concentrations of the α and β free sub‐units of human chorionic gonadotrophin (free α‐hCG and free β‐hCG) in maternal serum between 15 and 22 weeks of pregnancy in 126 pregnancies among 92 women with insulin‐dependent diabetes mellitus (IDDM). Each IDDM pregnancy was matched with two control singleton pregnancies for gestational age (same completed week) and duration of sample storage (same calendar quarter). The median free α‐hCG level in the IDDM pregnancies was 0·86 multiples of the median (MOM) for pregnancies without IDDM at the same gestational age (P<0·002) (95 per cent confidence interval 0·80–0·94). The corresponding free β‐hCG level was 0·96 MOM (95 per cent confidence interval 0·85–1·09). These results enable free α‐hCG values to be adjusted so that antenatal screening for Down's syndrome can be performed using this marker in IDDM pregnancies as well as in non‐diabetic pregnancies.
Syndromes identified in fetuses with prenatally diagnosed cephaloceles
Authors: Wininger Steven J. , Donnenfeld Alan E. 
Published: March 2007

AbstractAn evaluation of all fetuses from our institution with prenatally diagnosed cephaloceles was conducted to determine the frequency and spectrum of genetic syndromes associated with this abnormality. Review of the sonographic images, postnatal autopsy or pathology reports, delivery room records, paediatric neurosurgical findings, radiographs, and cytogenetic data were collected. Fifteen postnatally confirmed cases of prenatally diagnosed cephaloceles and two misdiagnosed cases were identified. Thirteen were midline occipital lesions, one was frontoparietal, and one was frontoethmoidal. Excluding microcephaly, hydrocephaly, and distortion of intracranial anatomy, 9 of 15 (60 per cent) had other associated anomalies, including two fetuses with aneuploidy. The prenatal diagnosis of a cephalocele should initiate a thorough search for other abnormalities. In this series, there were three multifactorial, two chromosomal, two sporadic, and two autosomal recessive syndromes identified. An accurate diagnosis is critical in determining the prognosis and providing appropriate genetic counselling.
Second‐trimester echogenic small bowel: An increased risk for adverse perinatal outcome
Authors: Hill Lyndon M. , Fries Joanne , Hecker Julie , Grzybek Patricia 
Published: March 2007

Abstract2267 singleton fetuses who had one ultrasound examination between 15 and 21 weeks' gestation were prospectively evaluated for echogenic small bowel. Thirty‐two cases of echogenic small bowel were detected—a prevalence of 1·4 per cent. Echogenic fetal small bowel was divided into two grades: grade 1, where the small bowel was more echogenic than the liver; and grade 2, where the small bowel had the echogenicity of bone. In contrast to 19/23 fetuses with grade 1 small bowel echogenicity, only 2/9 fetuses with grade 2 echogenic bowel had a normal pregnancy outcome (Fisher's exact test; P⩽0·01). Complications associated with second‐trimester echogenic small bowel included in utero cytomegalovirus infection, second‐trimester growth restriction, intrauterine fetal demise, and chromosomal abnormalities. Second‐trimester fetal echogenic small bowel is associated with an increased risk of an adverse outcome. The prevalence of perinatal and neonatal complications is significantly greater when small bowel echogenicity approaches that of bone.
Experience with 500 prenatal diagnoses of sickle cell diseases: The effect of gestational age on affected pregnancy outcome
Authors: Wang Xiuhua , Seaman Carol , Paik Myunghee , Chen Timothy , Bank Arthur , Piomelli Sergio 
Published: March 2007

AbstractPrenatal diagnosis of sickle cell diseases is obtained rapidly and precisely by polymerase chain reaction (PCR) with Ddel restriction analysis and dot‐blotting with alllele‐specific oligonucleotides (ASO). Prenatal diagnosis of HgbSS and HgbSC was performed in 500 pregnancies, 196 by Southern blot and 304 by PCR. PCR drastically shortened the interval from sampling to reporting, allowing acceptance even of samples with unknown paternal phenotype, and resulted in an overall four‐fold increase in diagnoses. In 108 pregnancies, the diagnosis was an affected fetus; 25 were HgbSC: 3 (12 per cent) were terminated; 83 were HgbSS: four ended in miscarriage; 40/79 (51 per cent) were terminated. The gestational age at the time of report to the mother appeared to be a major outcome determinant when the fetal diagnosis was HgbSS. The change‐point in the maternal decision was found at 20 weeks of gestation. Before the 20th week, most mothers (64 per cent) chose termination; thereafter, the majority (72 per cent) chose continuation. The odds ratio of termination in earlier relative to later reporting was 4·7. In order to offer a choice to the mothers at risk of delivering a fetus affected by sickle cell disease, the diagnosis should be reported before the 20th week of gestation.
Reasons for women's non‐uptake of amniocentesis
Authors: Julian‐Reynier Claire , Macquart‐Moulin Geneviève , Moatti Jean‐Paul , Aurran Yvette , Chabal Françoise , Aymé Ségolène 
Published: March 2007

AbstractMore than 10 years after a chromosomal anomaly screening programme was set up in France for pregnant women of advanced age, amniocentesis is still a controversial issue. The reasons why eligible women did not utilize the test and whether or not the existence of social welfare coverage determined women's access to prenatal diagnosis were studied. A group of 291 women aged ⩾35 years who recently gave birth to normal liveborns was interviewed by telephone. Among those aged 38 years and over, who automatically qualified for social security coverage, 75 per cent had undergone amniocentesis as opposed to 23 per cent in the 35 to 37‐year‐old non‐covered age group who did not qualify for social security coverage. In both groups, access to amniocentesis was found to depend on the physicians', women's and male partners' attitudes towards prenatal diagnosis and abortion. Among the younger group, the uptake depended mainly on socio‐economic factors. Institutional policies should ensure greater equality of access while allowing for individual preferences.