In order to determine the significance of nuchal translucency thickness on the subsequent natural history of first-trimester fetuses with a chromosome translocation, seven consecutive cases diagnosed between 11 and 13 weeks of gestation were reviewed. Nuchal translucency measurements were successfully obtained before chorionic villus sampling (CVS) in all cases. Three ...

BACKGROUND: Nuchal translucency (NT) measurement for Down's syndrome screening or detecting various fetal anomalies is a reliable sonographic marker. This study evaluates the contribution of NT screening in spontaneously conceived and assisted conception twin pregnancies. METHODS AND RESULTS: Maternal age at measurement, chorionicity, ultrasound features, karyotype results and pregnancy outcome ...

Three to 12 h of mild hypothermia (HT) starting after hypoxia-ischemia is neuroprotective in piglets that are anesthetized during HT. Newborn infants suffering from neonatal encephalopathy often ventilate spontaneously and are not necessarily sedated. We aimed to test whether mild posthypoxic HT lasting 24 h was neuroprotective if the animals ...

We present the prenatal ultrasound findings in a case of postnatally identified paternal uniparental isodisomy 14q12-qter. Increased nuchal translucency and a large omphalocele were identified at 14 weeks' gestation. Karyotyping revealed a normal male, 46,XY. As gestation advanced, polyhydramnios developed, skeletal abnormalities involving the long bones and chest became evident, ...

Recent data have suggested that fetal nuchal translucency (NT) is affected by fetal gender. We investigated the size of this effect in 12 189 unselected pregnancies with known normal outcomes that had undergone NT measurements between 10 and 14 weeks of gestation. NT increased with gestation and was converted to ...

We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleural effusion, marked micrognathia, cardiomegaly, unilateral talipes and reversed A-wave in the ductus venosus blood flow. Karyotyping ...

OBJECTIVE: To determine the value of performing routine fluorescent in situ hybridization (FISH) for microdeletions of chromosome 22q11 when karyotyping fetuses with increased nuchal translucency. DESIGN: This was a prospective observational study carried out over an 18-month period. Fetal karyotyping by chorionic villus sampling was offered to 5429 women attending ...

OBJECTIVES: To study the outcome of chromosomally normal pregnancies with increased nuchal translucency at the 10-14-week scan. DESIGN: Retrospective study of 1320 chromosomally normal singleton pregnancies with nuchal translucency of > or = 3.5 mm. In addition to fetal karyotyping these patients were managed with follow-up scans at 14-16 and ...

OBJECTIVE: To explore whether abnormalities in growth hormone binding protein (GHBP) may underlie the growth restriction associated with fetal aneuploidy. DESIGN: A retrospective casecontrol study. SETTING: Monash Medical Centre. Clayton, Victoria, Australia. POPULATION: Twenty-one trisomy 18, and 30 trisomy 21 pregnancies, and 170 chromosomally normal pregnancies at 15-18 weeks of ...

Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) of these ...

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft ...

Dimeric inhibin A was measured in maternal serum samples from 45 pregnancies affected by trisomy 21 and 493 samples from unaffected pregnancies at 10-14 weeks of gestation. Inhibin A levels in affected pregnancies were compared with levels of free beta-hCG and PAPP-A in the same series. In the trisomy 21 ...

There has been an increase in the use of fetal ultrasound in the first trimester. This article reviews the published literature with emphasis on fetal nuchal translucency (NT). When measured according to well-defined guidelines, increased NT identifies about 80% of chromosomal anomalies for a false-positive rate of about 5%. Increased ...

We evaluated the hypothesis that the trisomy 21 genome interacts with environmental factors during early pregnancy to increase the risk for birth anomalies in Down syndrome infants in Alexandria, Egypt. A case-control study on 514 infants with confirmed Down syndrome was carried out from 1 July 1995 to 30 June ...

The aim of the present study was to assess the sonographic contour of the increased nuchal translucency (NT) and to correlate this with pregnancy outcome. Fifty sonographic images of fetuses with increased NT [> 95th centile thickness of the normal range for crown-rump length (CRL) between 38 and 84 mm] ...

OBJECTIVE: To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. DESIGN: A retrospective case series. SUBJECTS: Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between ...

As part of our continuing programme to investigate immunological causes of unexplained recurrent pregnancy losses, we studied subpopulations of white blood cells and their activation status in decidua of women with a history of recurrent spontaneous abortion (RSA). We differentiated specifically between normal karyotyped male fetuses and abnormal karyotyped fetuses ...

A case of confined placental mosaicism (CPM) and maternal uniparental isodisomy 14 identified after placental karyotype revealed trisomy 14 in a newborn with intrauterine growth restriction (IUGR) and minor dysmorphic features is reported. During the second trimester of the pregnancy, multiple marker screening revealed an increased risk for Down syndrome ...

A prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. ...

OBJECTIVE: To investigate, in a high-risk group of fetuses, the role of ductus venosus Doppler velocimetry as a prognostic factor, in addition to nuchal translucency measurement, for predicting chromosomal anomalies and, where the karyotype was normal, for predicting fetal outcome. METHODS: Nuchal translucency was measured and ductus venosus pulsatility index ...

Maternal serum total activin-A concentration was measured in 45 pregnancies affected by trisomy 21 and 493 control unaffected pregnancies at 10-14 weeks of gestation. In the trisomy 21 pregnancies total activin-A concentration was significantly higher (1.36 MoM of the unaffected pregnancies) and in 16% of cases the level was above ...

We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10-14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made ...

We report the prenatal detection of increased nuchal translucency and decreased fetal movements, at 11 weeks of gestation, in a fetus at risk for Zellweger syndrome. The diagnosis of Zellweger syndrome was confirmed by metabolic studies on cultured chorionic villus sampling (CVS) cells and the pregnancy was terminated. The couple's ...

Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans, occurring in at least 5% of all clinically recognized pregnancies. Most aneuploid conceptuses perish in utero, which makes this the leading genetic cause of pregnancy loss. However, some aneuploid fetuses survive to term and, as a class, ...

We report on a female carrier of der(15) t(Y;15)(q12;p13) who had two pregnancy losses with trisomy 15 and one with tetraploidy. Molecular analysis showed that both non-disjunction events resulting in the trisomy 15 pregnancies occurred in maternal meiosis I. This finding raises the possibility that there may be an increased ...

Viable trisomy 13 or 18 pregnancies may be supported by the presence of a diploid cell line, confined to the outer layer of the placenta (cytotrophoblast). To establish the presence of diploid cells we investigated five random biopsies from placentas of trisomy 13 (n = 8) and trisomy 18 cases ...

INTRODUCTION: Mild pyelectasis is a common finding and there is some debate as to its association with aneuploidy. The results of a large, prospective, multicenter study of mild pyelectasis designed to determine the incidence and association with aneuploidy in an unselected population are reported. METHODS: A large multicenter, prospective observational ...

Constitutional mosaic trisomy 8 has been associated with syndromic dysmorphology, corneal opacities, leukemias, and trophoblastic disease. However, abnormal maternal serum alpha-fetoprotein (MSAFP) has not been reported in association with mosaic trisomy 8. Our case first presented for evaluation of an extremely elevated MSAFP with mild elevation of MShCG in an ...

OBJECTIVE: To evaluate the effectiveness of nuchal translucency (NT) measurement in screening for major congenital heart disease (CHD) in chromosomally normal fetuses. DESIGN: A population based cohort study of all women having fetal NT measurement at 10-14 weeks of gestation in an unselected population over a 3-year period. The outcome ...

OBJECTIVE: To describe the sonographic characteristics of fetuses with trisomy 21. DESIGN: A prospective descriptive analysis. SETTING: Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS: Pregnancies at risk of trisomy 21 between 14-27 weeks' gestation. RESULTS: Thirty-six fetuses with subsequently proven ...

OBJECTIVE: The aim of the study was to evaluate the use of nuchal translucency measurement as a marker of adverse pregnancy outcome in karyotypically normal fetuses. METHODS: During the years 1995-99, nuchal translucency (NT) measurement was routinely offered to all women who had their dating scan in our unit. From ...

OBJECTIVES: To investigate the relationship between the nuchal translucency (NT) thickness and crown-rump length (CRL) in normal Asian fetuses during the first trimester. DESIGN: A prospective observational study was conducted. Ultrasound measurement of NT and CRL was offered in 879 consecutive Taiwanese fetuses between 9 weeks and 14 weeks of ...

CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been most evaluated. OBJECTIVE: To define the best fixed cutoff point for nuchal translucency, with the ...

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not regulated and can be freely performed by any biomedical lab, making epidemiological data unavailable. By contrast, cytogenetic investigations ...

BACKGROUND: Continuous technological improvement made in the field of ultrasound applied to obstetric diagnostics (see tridimensional sonography) has contributed to a better and non-invasive early diagnosis of fetal malformations. METHODS: To evaluate the usefulness of ultrasound in detecting early chromosomal derangements, the authors carried out a high resolution transvaginal sonography ...

Most instances of maternal uniparental disomy (UPD) start as trisomies and, similar to the latter, show a significant increase of mean maternal age at delivery. To investigate the incidence of UPD in offspring of older mothers, we investigated two groups of patients: 1) 50 patients with unclassified developmental defects born ...

OBJECTIVES: To determine the effects of chromosomal defects on fetal heart rate at 10-14 weeks of gestation. METHODS: Fetal heart rate at 10-14 weeks of gestation in 1061 chromosomally abnormal fetuses was compared to that from 25,000 normal pregnancies. The chromosomally abnormal group included 554 cases of trisomy 21, 219 ...

Fetal central nervous system abnormalities encompass a variety of lesions. Most of the anomalies are seen in association with an increased incidence of fetal aneuploidy and an increase in other anomalies both within and outside of the central nervous system. These associated findings and the underlying lesion all have a ...

Recurrence of fetal cystic hygroma in subsequent pregnancies is extremely rare. A review of the literature to date revealed only two other reports of recurrence with normal fetal karyotypes documented in at least two of the affected pregnancies. At 11 weeks' gestation, the fetus of a 19-year-old gravida 3 para ...

Current non-invasive screening methods for the prenatal diagnosis of fetal aneuploidies are hampered by low sensitivities and high false positive rates. Attempts to redress this situation include the enrichment of fetal cells from maternal blood, or the use of fetal DNA in the plasma of pregnant women. By the use ...

The recent development of a specific immunoassay based on monoclonal antibodies directed to chain C and chain A of early placenta insulin-like peptide (EPIL) encoded by the INSL4 gene, has made it possible to demonstrate pro-EPIL peptide expression during normal pregnancy. In the present study, we report on the expression ...

OBJECTIVE: Our purpose was to determine whether ultrasonographic measurements of nuchal fold thickness are affected by the position of the fetal neck. STUDY DESIGN: Fetal nuchal fold thickness was prospectively measured in 258 women undergoing routine ultrasonography at 15 to 21 completed weeks of gestation. Patients with fetal structural or ...

OBJECTIVE: To analyze the value of second trimester ultrasound examination among those women whose fetuses were indicated to be at low risk of chromosomal anomalies on the basis of both first trimester nuchal translucency measurement and second trimester biochemical screening. METHODS: A retrospective study of 5500 pregnancies carried out at ...

OBJECTIVE: To evaluate the introduction of a one stop multidisciplinary clinic for screening for fetal chromosomal abnormalities in the first trimester by a combination of maternal serum biochemistry and ultrasonography providing a risk of chromosomal abnormalities within a one hour clinic visit. DESIGN: One year retrospective review of screening performance. ...

The aim of this prospective study was to evaluate an umbilical artery pulsatility index (UAPI) in first trimester fetuses who present enlarged nuchal translucency (NT) measurements. UAPI was measured in 121 single fetuses with NT > or =95th centile, from 10+3 to 13+6 weeks (crown-rump length (CRL) > or =38 ...

This extended series of 303 monochorionic twin pregnancies examined at 10-14 weeks gestation explores the possible association of increased fetal nuchal translucency thickness (NT) in the early prediction of severe twin-to-twin transfusion syndrome (TTS). Of 303 pregnancies, there were 16 in which at least one fetus was structurally or chromosomally ...

AIM: To evaluate the prevalence of increased nuchal translucency (NT) in multiple pregnancies and its relation to fetal karyotype and pregnancy outcome. METHODS: We measured fetal nuchal translucency (NT) in 6,338 women pregnant from 10+3 to 13+6 weeks by ultrasound and evaluated the prevalence of NT=95th centile in 115 multiple ...

This study examines histomorphometric features in chorionic villi obtained by chorionic villus sampling (CVS) at 11-14 weeks of gestation from 124 ongoing pregnancies (38 with trisomy 21, 14 with trisomy 18, 11 with trisomy 13 and 61 chromosomally normal controls). In the trisomy 21 group there was an inverse relationship ...

In a study of 2923 normal pregnancies and 203 pregnancies affected by trisomy 21 we have shown a significant difference in the median MoM of the markers: fetal nuchal translucency, maternal serum free beta-hCG and PAPP-A in the presence of a female fetus compared with a male fetus. For maternal ...

Fetal nuchal translucency thickness (NT) at the 11-14 week scan has been combined with maternal age to provide an effective method of screening for trisomy 21; for an invasive testing rate of 5%, about 75% of trisomic pregnancies can be identified. When maternal serum free-beta-human chorionic gonadotropin and pregnancy-associated plasma ...