bluuebunny/crossref_metadata_2025 huggingface dataset:
Prediction of an abnormal karyotype in fetuses with omphalocele
Authors: de Veciana M. , Major C. A. , Porto M.
Published: March 2007

The aim of this study was to assess the value of ultrasonographic evaluation in predicting abnormal karyotypes in fetuses with omphalocele. Forty fetuses with antenatally diagnosed omphalocele and available karyotype results were reviewed. Ultrasound evaluation included herniation contents and size, and the detection of other anomalies. Nine of 40 consecutive fetuses had abnormal karyotypes: trisomy 18 (n = 5), trisomy 13 (n = 3), 47,XXX (n = 1). Only 1/25 with an extracorporeal liver versus 8/15 with an intracorporeal liver had abnormal chromosomes [P = 0·0006, RR = 0·14 (0·02 < RR <0·9)]. Small defects (<3 cm) were associated with abnormal karyotypes [P = 0·01, RR = 4·7 (1·4<RR <15·6)]. Finding concurrent malformations was highly associated with chromosomal anomalies [P = 0·00004, RR = 4·4 (2·3 < RR < 8·5)]. The presence of associated malformations, an intracorporeal liver, and a small herniation size are highly suggestive of an associated abnormal karyotype.
A new RFLP marker, SP282, at the btk locus for genetic analysis in X‐linked agammaglobulinaemia families
Authors: Kwan Sau‐Ping , Walker Ann P. , Hagemann Tracy , Gupta Sudhir , Vayuvegula Bharathi , Ochs Hans D.
Published: March 2007

X‐linked agammaglobulinaemia is an inherited recessive disease in which the primary defect lies in the failure of pre‐B cells to develop into mature circulating B cells, due to a defective B‐cell cytoplasmic tyrosine kinase (btk). For this study we introduced a new RFLP marker, SP282, which is tightly linked to the XLA locus. In conjunction with the marker DXS178, SP282 was used to identify a carrier female and predict her male offspring to be normal. Subsequently the fetus was shown to have a normal number of circulating B cells, and at 2·5 years of age, the non‐affected phenotype of the child was confirmed.
Early amniocentesis—a cytogenetic evaluation of over 1500 cases
Authors: Eiben B. , Goebel R. , Hansen S. , Hammans W.
Published: March 2007

We report our cytogenetic experience of 1554 early amniocenteses between weeks 11 and 14 of gestation, of which 44 per cent were performed prior to week 14. The mean culture time was 14·5 days. Karyotyping was successful in 99·7 per cent of cases. In 9·9 per cent of cases, there was pseudomosaicism with a high rate of loss of an X‐chromosome and structural aberration of chromosome 1, which may be due to the Chang medium. The mosaic rate was 0·5 per cent. The overall aberration rate was 2·8 per cent. Our data confirm the reliability of early amniocentesis, which is a serious alternative to standard amniocentesis and chorionic villus sampling (CVS).
Prenatal diagnosis of femur‐fibula‐ulna complex by ultrasonography in a male fetus at 24 weeks of gestation
Authors: Capece G. , Fasolino A. , Monica M. Della , Lonardo F. , Scarano G. , Neri G.
Published: March 2007

We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur—fibula—ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.
Prenatal ultrasonographic diagnosis of fetal cerebral ventriculitis associated with asymptomatic maternal cytomegalovirus infection
Authors: Achiron R. , Pinhas‐Hamiel O. , Lipitz S. , Heiman Z. , Reichman B. , Mashiach S.
Published: March 2007

Cytomegalovirus is the most common cause of congenital viral infection. In utero infection is usually suspected in patients with growth‐retarded fetuses or when maternal illness precipitates serological investigations. A case is presented where routine ultrasound examination at 30 weeks' gestation in an asymptomatic patient demonstrated mild fetal ventriculomegaly. Transvaginal ultrasound enabled the visualization of intraventricular adhesions and small periventricular cysts. The suspected diagnosis of in utero cytomegalovirus infection was confirmed by the presence of IgM antibodies in fetal blood and subsequently by isolation of the virus from the infant's urine. The presence of mild fetal ventriculomegaly should prompt transvaginal brain imaging.
Incremental cost‐effectiveness of incorporating oestriol evaluation in down syndrome screening programmes
Authors: Ganiats Theodore G. , Halverson Andrea L. , Bogart Mark H.
Published: March 2007

As screening for Down syndrome becomes increasingly sophisticated, it is important to evaluate the newer technologies in terms of their cost‐effectiveness. One recent addition to Down syndrome screening programmes is maternal serum unconjugated oestriol (uE3), especially when used in conjunction with maternal serum α‐fetoprotein and human chorionic gonadotropin. Using assumptions used in a California proposal to justify an expanded screening programme for Down syndrome, we calculated both the average and the incremental cost‐effectiveness of adding uE3. Using the base case assumptions, including an $8 fee for the uE3, the incremental cost‐effectiveness of adding uE3 to the proposed California programme is $119 100 per case detected, a value that compares favourably with other Down syndrome screening programmes. The sensitivity analysis supports this conclusion over a wide range of assumptions. However, because of the uncertainty with some key data, it is still too early to fully support the inclusion of uE3 in Down syndrome screening programmes.
Down's syndrome screening in multiple pregnancies using alpha‐fetoprotein and free beta hCG
Authors: Spencer K. , Salonen R. , Muller F.
Published: March 2007

Second‐trimester distributions of the free beta human chorionic gonadotrophin (hCG) and alpha‐fetoprotein (AFP) levels in 420 twin and 19 triplet pregnancies were measured and compared with the distributions in 6661 singleton pregnancies. On average, the levels of both analytes were twice as high in twins and over three times as high in triplets. Eight sets of twins discordant for Down's syndrome showed elevated levels of free beta hCG and reduced levels of AFP after correction of the multiple of the median for the presence of a twin pregnancy. Screening for Down's syndrome using the twin correction of the multiple of the median is expected to achieve a 51 per cent detection rate at a 5 per cent false‐positive rate using these two markers.
Early invasive prenatal diagnosis in HBsAg‐positive women
Authors: Grosheide P. M. , Quartero H. W. P. , Schalm S. W. , Heijtink R. A. , Christiaens G. C. M. L.
Published: March 2007

From 1982 to 1989, pregnant women in two large city hospitals in The Netherlands had serum samples screened for hepatitis B surface antigen (HBsAg). Infants of mothers found to be HBsAg‐positive received hepatitis B immune globulin immediately after birth and hepatitis B vaccine in the first year of life. Blood samples of infants were regularly tested for HBsAg and antibodies directed against HBsAg. A retrospective analysis of the pregnancy outcome in HBsAg‐positive women who had invasive tests for prenatal diagnosis was carried out to determine whether amniocentesis and chorionic villus sampling (CVS) are risk factors for the intrauterine transmission of the hepatitis B virus. Amniocentesis was carried out in 17 HBsAg‐positive women and CVS in one case. Only two women were HBsAg‐ and HBeAg‐positive. Prenatal diagnosis led to the termination of pregnancy for fetal chromosome abnormality in three cases. The remaining 15 pregnancies were uneventful; all infants were negative for HBsAg and developed an active immune response to the vaccine. These data suggest that amniocentesis in HBsAg‐positive women constitutes a low risk for the intrauterine transmission of the hepatitis B virus, but definite conclusions in HBeAg‐positive women cannot be drawn.
True trisomy 15 mosaicism, detected by amniocentesis at 12 weeks of gestation and fetal echocardiography
Authors: Sundberg Karin , Brocks Vibeke , Jacobsen Joes Ramsøe , Beck Bjarne
Published: March 2007

A case of mosaicism of trisomy 15, with two‐thirds of the cells trisomic, was detected at 12 weeks of gestation in amniotic fluid cell cultures obtained with the filtration technique. Ultrasound examination at 13 weeks showed a nodule protruding into the amniotic cavity which was speculated to be remnants of a co‐twin, causing the trisomic cell line. At 20 weeks of gestation, a malformation scan (level III) was normal, but supplementary fetal echocardiography revealed a severe cardiac defect (mitral atresia and a ventricular septal defect). Fetal lymphocytes obtained by cordocentesis showed trisomy 15 mosaicism, but only in 5 per cent of the mitoses. After termination, the same percentage of trisomy 15 mosaicism was found in cells from skin and tendon as in the original early amniocentesis. No sign of earlier twinning was found in the placenta or membranes. We conclude that mosaicism in early amniotic fluid obtained by the filter technique in this case reflected the true karyotype accurately and that supplementary echocardiography added significantly to the interpretation of the clinical implications.
Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods
Authors: Rizzo William B. , Craft Debra A. , Kelson Todd L. , Bonnefont Jean‐Paul , Saudubray Jean‐Marie , Schulman Joseph D. , Black Susan H. , Tabsh Khalil , Dirocco Maja , Gardner R. J. McKinlay
Published: March 2007

Sjögren—Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the presence of congenital ichthyosis, mental retardation, and spasticity. The primary biochemical defect in SLS has recently been identified to be a deficiency of fatty aldehyde dehydrogenase (FALDH), which is a component of fatty alcohol:NAD+ oxidoreductase (FAO). We monitored four pregnancies at risk for SLS by measuring FAO and FALDH in cultured amniocytes or cultured chorionic villus cells. The enzymatic results in one case using amniocytes obtained during the second trimester predicted an affected SLS fetus, which was confirmed at termination of the pregnancy. Another at‐risk fetus was predicted to be affected with SLS using cultured chorionic villus cells obtained in the first trimester, and fetal skin fibroblasts confirmed a profound deficiency of FAO and FALDH. Two other fetuses were correctly predicted to be unaffected. These results demonstrate that SLS can be diagnosed prenatally using enzymatic methods.
Confined placental mosaicism in CVS and pregnancy outcome
Authors: Roland Beth , Lynch Lauren , Berkowitz Gertrud , Zinberg Randi
Published: March 2007

The perinatal outcome of 26 patients with confined placental mosaicism (CPM) detected in chorionic villus sampling (CVS) who wished to continue their pregnancies was compared with that of two controls per patient matched for age and parity (n=52). There were no significant differences in birth weight or gestational age at delivery between patients with CPM and controls. There were no cases of intrauterine growth retardation (IUGR) in the CPM patients as compared with two (2/52, 3·8 per cent) in the control group (P>0·05). There was no significant increase in fetal loss between the study group (1/26, 3·6 per cent) and the controls (1/52, 1·9 per cent) (P>0·05).
Congenital nephrosis in low‐risk pregnancies
Authors: Ghidini Alessandro , Alvarez Manuel , Silverberg Gittel , Ainbender Eugene , Lockwood Charles J.
Published: March 2007

Congenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic fluid (AF) alpha‐fetoprotein level greater than 5 standard deviations (SD) above the population mean accompanied by a negative AF acetylcholinesterase, absent haemoglobin F, and an unremarkable fetal sonographic examination. We reviewed our series of seven cases of congenital nephrosis fulfilling the above criteria; four cases had negative family histories, and in two cases the diagnosis of congenital nephrosis was further supported by the presence of elevated AF albumin concentrations. We conclude that (1) the prenatal diagnosis of congenital nephrosis is feasible in a low‐risk population, and (2) an elevated AF albumin concentration may represent an additional marker for the diagnosis of congenital nephrosis, even though false‐negative results have been reported.
Antenatal diagnosis of a congenital nasolacrimal duct cyst by ultrasonography: A case report
Authors: Alper Cuneyt M. , Chan Kenny H. , Hill Lyndon M. , Chenevey Paula
Published: March 2007

With proximal and distal obstruction to the lacrimal drainage system, mucus accumulates forming a cyst. In order to diagnose a nasolacrimal duct cyst antenatally, the sonographer must image the region adjacent to the orbits.
Do racial differences exist in second‐trimester maternal hCG levels? a study of 23 369 patients
Authors: Muller Françoise , Bussières Laurence , Pèlissier Marie‐Christine , Oury Jean‐François , Boué Claire , Uzan Serge , Boué André
Published: March 2007

In Down syndrome screening by maternal serum human chorionic gonadotropin (hCG) determination at 15, 16, 17, and 18 weeks of gestation, we prospectively examined 23 369 sera from white (21 549), North African (970), black African (525), and Asian (325) patients. When expressed as multiples of the median (MOM), no difference was observed between white, North African, and black African patients. However, higher serum hCG concentrations were noted in Asians, for whom we therefore recommend correction of hCG values before calculation of the risk of Down syndrome.
Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung by fetal lung biopsy
Authors: Murotsuki Jun , Uehara Shigeki , Okamura Kunihiro , Yajima Akira , Murakami Kazuhiro
Published: March 2007

A case of type III congenital cystic adenomatoid malformation of the lung was successfully diagnosed prenatally by fetal lung biopsy. We performed this procedure at 22 weeks of gestation, using a biopsy gun system under ultrasound guidance. The pregnancy was undisturbed by the procedure but as the condition was incompatible with life, an abortion was performed. The diagnosis was confirmed at post‐mortem examination. Fetal lung biopsy appears to be a useful method for prenatal diagnosis of fetal lung disorders.
Monosomy 8q: Prenatal diagnosis and autopsy findings
Authors: Ariel I. , Anteby E. , Soffer D. , Tobias M. , Yagel S.
Published: March 2007

The autopsy findings of a fetus with deletion of the long arm of chromosome 8 are described. Many of the features are similar to those of the tricho‐rhino‐phalangeal syndromes, types I and II, which are associated with deletions on chromosome 8q24. Other findings in this case, such as total absence of the corpus callosum and intestinal malrotation, have not been described in these syndromes. Genes involved in the development of the latter malformations may reside in adjacent regions on the long arm of chromosome 8. An elevated serum level of beta human chorionic gonadotropin (βhCG) was found during pregnancy. This aberration should be included with other chromosomal disorders which may be detected by this test.
The 48,XXYY syndrome: A case detected by maternal serum alpha‐fetoprotein screening
Authors: Nyberg Reita H. , Karhu Riitva , Karikoski Riitta , Simola Kalle O. J.
Published: March 2007

A 17‐year‐old woman was referred for amniocentesis due to a low maternal serum alpha‐fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.
Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba
Authors: Granda Hilda , Gispert Suzana , Martinez Gisela , Gomez Manuel , Ferreira Raul , Collazo Teresa , Magariño Carlos , Heredero Luis
Published: March 2007

A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had carried out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992. The centralization of the service has permitted rapid identification and resolution of problems.
Isolated choroid plexus cysts—the need for routine offer of karyotyping
Authors: Walkinshaw Stephen , Pilling David , Spriggs Alan
Published: March 2007

The management of isolated fetal choroid plexus cysts remains controversial. We have prospectively studied 15 565 pregnancies at two large obstetric units for the presence of choroid plexus cysts. In all cases where cysts were present at 19 weeks' gestation or greater, and were multiple, bilateral or solitary and greater than 5 mm maximum diameter, women were offered amniocentesis or placental biopsy, irrespective of the presence or absence of other abnormalities. Choroid plexus cysts were present in 152 (0·98 per cent) of cases. Four cases (2·6 per cent) of autosomal trisomy (three of trisomy 18, one of trisomy 21) were detected on prenatal karyotyping. In all cases, choroid plexus cysts were the only detectable prenatal anomaly. This study and a review of other large studies do not support the view that isolated choroid plexus cysts are a benign variant, the risk of trisomy being 1 in 82. Until further evidence is available, we recommend that cases of isolated fetal choroid plexus cysts at 19 weeks' gestation or greater should be offered prenatal karyotyping.
Body stalk anomaly associated with maternal cocaine abuse
Authors: Martinez J. M. , Fortuny A. , Comas C. , Puerto B. , Borrell A. , Palacio M. , Coll O.
Published: March 2007

A case of body stalk anomaly diagnosed prenatally by ultrasound during the 24th week of pregnancy in a cocaine abusing mother is presented. Accurate visualization of the fetal organs was difficult due to the severe oligohydramnios caused by premature rupture of membranes, probably related to the cocaine use. The sonographic findings were an omphalocoele, fetal attachment to the placenta, kyphoscoliosis, and absence of a floating umbilical cord. The prenatal diagnosis of the syndrome and the possible relationship with cocaine abuse are discussed.
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

We 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

This 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

We 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

Congenital 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

The 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

Current 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

Although 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

Ultrasound 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

Two 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

We 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

Identification 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

Prenatal 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

Because 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

The 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

The 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

Variability 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

A 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

An 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

2267 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

Prenatal 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

More 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.
Prenatal sonographic diagnosis of a third ventricle choroid plexus papilloma
Authors: Adra Abdallah M. , Mejides Andres A. , Salman Fawwaz A. , Landy Helain J. , Helfgott Andrew W.
Published: March 2007

We report a case of fetal hydrocephalus secondary to a third ventricle choroid plexus papilloma detected by ultrasound at 33 weeks' gestation. The prenatal sonographic and colour flow Doppler findings of this rare fetal intracranial tumour are discussed.
Minute chromatin structures in cells of amniotic fluid—an interpretative dilemma
Authors: Wang Hungshu , Bellinger Judith L. , Brierley Kathleen , Dawson Laura E. , Goldsmith Claire L. , Hunter Alasdair G. W.
Published: March 2007

Single copies of tiny chromosome fragments, appearing either as single or as double minutes, were observed in a high frequency in amniotic fluid cultures of five mothers who underwent prenatal testing because of advanced age. In four cases, the minutes had arisen de novo. The minutes were later confirmed in fetal skin following termination of pregnancy in one case; in another, in cord blood following the birth of a normal boy; and in the third, in peripheral blood of a normal 3‐year‐old girl. In the fourth case, the minutes were not confirmed in cord blood following the birth of a normal boy. A follow‐up chromosome study of the baby boy in the fifth case was not possible but the minutes were maternally transmitted.
Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow‐up
Authors: Meck Jeanne M. , Kozma Chahira , Tchabo Jean‐Gilles , King Jeffrey C. , Lencki Shaun , Pinckert Thomas L.
Published: March 2007

Follow‐up evaluations were performed on a child at the ages of 2 years 8 months and also at 5 years who had been found on prenatal amniocentesis to be mosaic for trisomy 12. Eight of 36 colonies (22 per cent) were trisomy 12 at amniocentesis, with the remaining colonies showing a normal female karyotype. Cord blood, amnion, chorion, placental, and skin fibroblast chromosome studies failed to show any further evidence of a trisomy 12 cell line. At her evaluations, the child had normal physical and neurological findings. Psychomotor development was appropriate for age on screening.
In utero development of a mediastinal teratoma: A second‐trimester event
Authors: Froberg M. Kent , Brown Robert E. , Maylock John , Poling Eric
Published: March 2007

Mediastinal teratomas have rarely been discovered during the prenatal period. When seen during the neonatal period, these tumours have caused respiratory distress or hydrops fetalis. We present the sonographic and pathological findings of a rapidly developing anterior mediastinal teratoma causing hydrops fetalis and in utero demise at 27 weeks' gestation.
Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome
Authors: Weinblatt Mark , Petrikovsky Boris , Bialer Martin , Kochen Joseph , Harper Rita
Published: March 2007

A fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery.
Tumour‐associated antigens in maternal and fetal blood
Authors: Hohlfeld Patrick , Dang Thi‐Tan , Nahoul K. , Daffos Fernand , Forestier François
Published: March 2007

Normal levels of cancer‐associated antigen (CA) 19‐9, neurone‐specific enolase (NSE), cancer‐associated antigen (CA) 125, and mucin‐like carcinoma‐associated antigen (MCA) during pregnancy were determined in 87 mothers and fetuses, using a solid‐phase sandwich enzyme immunoassay. CA 19‐9 concentrations were higher in the fetuses, whereas the other three tumour‐associated antigen levels were higher in the mothers. Only fetal NSE and MCA levels were positively correlated with those in maternal serum. Contrary to adult samples, no difference was demonstrated between male and female fetal levels of CA 125. MCA was the only maternal marker that increased significantly with gestational age between 20 and 34 weeks' pregnancy.
Identification of a novel β0 ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis
Authors: Waye John S. , Eng Barry , Olivieri Nancy F. , Chui David H. K.
Published: March 2007

We present a case in which a Greek couple was considered not to be at risk of having children with homozygous β‐thalassaemia, an assessment based largely on the father's belief that he carried α‐thalassaemia. After their first child was diagnosed with homozygous β‐thalassaemia, the case was re‐assessed and both parents were shown to have the haematological profile of β‐thalassaemia trait. Screening for the common Mediterranean mutations demonstrated that the mother carries the IVS‐1 nt 110 G→A β+ ‐thalassaemia mutation. Direct nucleotide sequencing of PCR‐amplified DNA revealed that the father carries a novel β0‐thalassaemia mutation, frameshift codons 9/10 (+T). The couple's second pregnancy was terminated after prenatal testing revealed that the fetus had inherited both parental mutations. This case illustrates the need to confirm the carrier status of individuals prior to assessing their genetic risks, and highlights the importance of being able to identify rare or novel β‐thalassaemia mutations.