Prenatal Diagnosis (prenatal + diagnosis)

Distribution by Scientific Domains

Kinds of Prenatal Diagnosis

  • early prenatal diagnosis
  • invasive prenatal diagnosis
  • molecular prenatal diagnosis
  • rapid prenatal diagnosis

  • Selected Abstracts

    Simple Repair of Aortico-Left Ventricular Tunnel in a Newborn with Early Prenatal Diagnosis

    Roland Henaine M.D.
    Early recognition of ALVT by antenatal ultrasound allows prompt neonatal management and avoidance of harmful aortic valve regurgitation. The present case is unique because of the conjunction of very early antenatal diagnosis, prompt postnatal management, early surgical repair on the sixth day of life, direct closure from the aorta of the aortic orifice only, and optimal postoperative course with excellent mid-term result. [source]

    Ten Years' Experience of Antenatal Mean Corpuscular Volume Screening and Prenatal Diagnosis for Thalassaemias in Hong Kong

    Dr. S. Y. Sin
    Abstract Objective: To determine the prevalence of thalassaemia carriers in Hong Kong. Subjects and Methods: From 1988 to 1997, 25834 (53.7%) of 48089 mothers were screened for thalassaemias by mean corpuscular volume (MCV) at the first antenatal visit. Results: In the screened population of 25834, 2229 (8.6%) had MCV , 75 fl. Of these, 1121 (4.3%) were ,-thal, 715 (2.8%) were ,-thal, 23 (0.1%) were ,,-thal, 57 (0.2%) were other haemoglobin variants, and 281 (1.1%) had either iron deficiency or uncertain causes. Out of 200 pregnancies at risk for homozygous ,-thal-1 and 32 at risk for ,-thal major, 27 homozygous ,-thal-1 and 7 ,-thal major were identified, compared favourably with the expected figures of 23 and 9. Conclusion: Antenatal screening for thalassaemias by MCV is simple, effective and reliable. Universal screening has a different impact as bone marrow or cord blood stem cell transplant provides cure for ,-thal major. At risk couples have, as an alternative to termination of pregnancy, the option of early detection and treatment for their affected newborns or fetuses. [source]

    Noninvasive Prenatal Diagnosis: Past, Present, and Future

    Christian Litton MD
    Abstract The presence of fetal cells in the maternal circulation was first noted by Georg Schmorl when he documented the presence of multinucleated syncytial giant cells of placental origin in the lung tissue of women who had died from complications of eclampsia. In the intervening century, advances in cellular and molecular biology further elucidated both the physiology and pathophysiology of communication within the fetomaternal unit. This concept is at the foundation of the rapidly expanding field of noninvasive prenatal diagnosis. However, the clinical utility of this phenomenon had been limited until the presence of cell-free fetal DNA circulating in the maternal plasma was reported in 1997 and fetal messenger RNA was demonstrated to circulate in the maternal plasma in 2000. These circulating nucleic acids are found free-floating in the maternal plasma, unencumbered by a surrounding fetal cell. The analysis of these 3 fetal markers (fetal cells, cell-free fetal DNA, and fetal messenger RNA) for diagnostic and screening purposes is now being developed. The scope of noninvasive prenatal diagnosis is not limited to only the diagnosis of fetal genetic traits and aneuploidies. Recently, researchers have focused their investigations on the role of cell-free fetal DNA and fetal messenger RNA in preeclampsia, intrauterine growth restriction, and preterm labor. These biomarkers, the result of inherent placental dysfunction or the byproducts of placental trophoblastic apoptosis, may allow for improvements in the diagnosis and management of high-risk pregnancies. Mt Sinai J Med 76:521-528, 2009. 2009 Mount Sinai School of Medicine [source]

    Prenatal Diagnosis: past, present, and future

    PRENATAL DIAGNOSIS, Issue 7 2010
    Malcolm A. Ferguson-Smith
    First page of article [source]

    Prenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith,Wiedemann syndrome Prenatal Diagnosis (2003; 23: 292,294).

    PRENATAL DIAGNOSIS, Issue 9 2003
    Article first published online: 2 SEP 200
    This original article to which this Erratum refers was published in Prenatal Diagnosis (2003; 23: 292,294). Copyright 2003 John Wiley & Sons, Ltd. [source]

    Pilot study for the neonatal screening of fragile X syndrome

    PRENATAL DIAGNOSIS, Issue 9 2003
    Article first published online: 2 SEP 200
    This original article to which this Erratum refers was published in Prenatal Diagnosis (2002; 22: 459,462). Copyright 2003 John Wiley & Sons, Ltd. [source]

    Prenatal management of mosaic tetrasomy 5p.

    PRENATAL DIAGNOSIS, Issue 6 2003

    The original article to which this Erratum refers was published in Prenatal Diagnosis (2003; 1: 82,85). Copyright 2003 John Wiley & Sons, Ltd. [source]

    Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus

    PRENATAL DIAGNOSIS, Issue 5 2002
    Monika Schlegel
    Abstract An Erratum has been published for this article in Prenatal Diagnosis 22(11) 2002: 1056. We report a case of maternal isodisomy 10 combined with mosaic partial trisomy 10 (p12.31-q11.1). Chromosome examinations from a CVS sample showed a karyotype 47,XY,+mar/46,XY. The additional marker chromosome which was present in 6/25 interphase nuclei was shown by fluorescence in situ hybridization (FISH) to have been derived from a pericentromeric segment of chromosome 10. DNA analysis was performed from umbilical cord blood from the fetus after termination of the pregnancy at 18 weeks. The results showed that the two structurally normal chromosomes 10 were both of maternal origin, whereas the marker chromosome derived from the father. Autopsy of the fetus revealed hypoplasia of heart, liver, kidneys and suprarenal glands, but, apart from a right bifid ureter, no structural organ abnormalities. This fetus represents the second reported instance of a maternal uniparental disomy (UPD) 10. Copyright 2002 John Wiley & Sons, Ltd. [source]

    The use of combined ultrasound and magnetic resonance imaging in the detection of fetal anomalies

    PRENATAL DIAGNOSIS, Issue 5 2010
    Xiomara M. Santos
    Abstract Objective To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. Methods We performed a retrospective review of patients referred to the TCFC between September 2001 and July 2007 with a fetal structural malformation. Data were abstracted to compare the referral diagnosis to TCFC imaging diagnoses and both were compared to postnatal diagnosis. Results Two hundred and twenty-four patients were referred who had a fetal US and MRI at TCFC. The most frequent indications were for abnormalities of the central nervous system (38%) and lung/thoracic cavity (34%), with congenital diaphragmatic hernia (CDH) the single most common referral diagnosis (n = 39; 17%). In 99 cases (42.7%) the referral diagnosis was concordant with the post-referral diagnosis, however, in 68 cases (29.3%) the post-referral diagnosis changed completely, and in 65 cases (28%) additional findings were discovered. Prenatal diagnoses following imaging at TCFC were concordant with postnatal diagnoses in 94.9% of cases. Conclusions Combined ultrasound and MRI provides additional diagnostic information or a corrected diagnosis in 57% of cases over the referral ultrasound diagnosis. Copyright 2010 John Wiley & Sons, Ltd. [source]

    Isolated levocardia: Prenatal diagnosis and management

    Satoko Katsuya
    ABSTRACT Isolated levocardia (IL) is a rare condition of situs anomaly in which there is a normal left-sided heart (levocardia) with dextro position of the abdominal viscera. IL has been reported in children and adults with complex cardiac defects, whereas there are only few published reports regarding the prenatal diagnosis of IL. We report two prenatal cases of IL diagnosed by ultrasonography and magnetic resonance imaging (MRI). In both cases, fetal cardiac function remained within the normal range throughout pregnancy, and no treatment for the heart was required after birth. For the dextro position of abdominal viscera, one case was followed without any surgical procedure, but the other case required prophylactic operation due to malrotation of the small intestine. Although the prognosis of IL largely depends on the severity of associated cardiac anomaly, future bowel obstruction caused by intestinal malrotation may also be life-threatening. In this respect, prenatal diagnosis of IL is important, even when there is no associated cardiac structural anomaly. If IL is suspected in routine fetal ultrasonography, MRI may be recommended to obtain more detailed information on the anatomy of abdominal viscerae, and careful observation for bowel problems is required, especially after oral nutrition is started. [source]

    Prenatal diagnosis of genodermatoses: current scope and future capabilities

    Minnelly Luu MD
    The genodermatoses encompass a range of inheritable skin diseases that may be associated with significant mortality and long-term morbidity. In the past, options for prenatal diagnosis of these diseases were limited to fetal skin biopsy. As a result of recent leaps made in genetics and molecular biology, DNA-based prenatal diagnosis is now available for an increasing number of genodermatoses, and newer non-invasive methods are being developed that have the potential for tremendous future impact in dermatology. Dermatologists caring for patients with genodermatoses should be aware of the options for screening and prenatal testing and partake in a multi-disciplinary approach to patient care. [source]

    Prenatal diagnosis of an intertwin membrane hematoma

    Marian Kacerovsky MD
    Abstract We report a case of a 26-year-old woman, gravida 2, para 1, with a dichorionic diamniotic twin pregnancy at 33 weeks of gestation with a 1-day history of mild vaginal bleeding and irregular uterine activity. Ultrasonography showed 18 15 3-cm-sized complex hypoechoic mass located in the dividing intertwin membrane. Based on this finding, the diagnosis of an intertwin membrane hematoma was made. This unusual sonographic diagnosis was confirmed during the cesarean section. In the case of dichorionic twin pregnancy, partial placental abruption can lead to a subclinical intertwin membrane hematoma. 2010 Wiley Periodicals, Inc. J Clin Ultrasound 38:397-399, 2010 [source]

    Prenatal diagnosis of fetal intra-abdominal umbilical vein varix: Report of 2 cases

    pek MD
    Abstract Fetal intra-abdominal umbilical vein varix (FIUVV) is a focal aneurysmal dilatation of the umbilical vein. Its clinical importance has not yet been clearly established, but it has been reported to be associated with increased fetal death rate (in nearly 44% of cases) and chromosomal abnormalities (in 12% of cases). We report 2 cases of FIUVV diagnosed via sonography in the third trimester. 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008 [source]

    Prenatal diagnosis of atrial septal aneurysm

    Jeng-Hsiu Hung MD
    Abstract We report the prenatal diagnosis of fetal atrial septal aneurysm based on the observation of a fluttering flap in the left atrium. The aneurysm was associated with an interatrial communication. In a 4-chamber view, separate arms of the aneurysm could be seen contracting in and extending out in response to the fetal cardiac cycle, giving the fluttering appearance of a jellyfish. The aneurysm disappeared 1 month after birth with no complications. The findings in this case indicate that isolated atrial septal aneurysm is a natural transient phase of spontaneous closure of the foramen ovale during normal fetal development. 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008 [source]

    Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues

    Vincenzo Mazza
    Abstract We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20th week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24th week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3rd centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3,4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3rd centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality. [source]

    Prenatal diagnosis of congenital heart disease: Trends in pregnancy termination rate, and perinatal and 1-year infant mortalities in Korea between 1994 and 2005

    Ji Eun Lee
    Abstract Aim:, To determine the pregnancy termination rate, and perinatal and 1-year infant mortality rates following prenatally-detected congenital heart disease (CHD) and trends over an 11-year period. Methods:, Between 1994 and 2005, 1603 gravidas underwent fetal echocardiography in our institution, in which 378 fetuses were diagnosed with CHD. The study period was divided into the following three groups for time-trend analysis: 1994,1997, 1998,2001, and 2002,2005. Data regarding gestational age at diagnosis and delivery, the presence of extracardiac or chromosomal abnormalities, pregnancy termination rate, and perinatal and 1-year mortalities were collected by review of medical records and telephone interviews. Results:, Among 378 fetuses with a prenatally-detected CHD, complete perinatal and infant outcomes were available for 336 fetuses (88.9%). There was a gradual increase in prenatally-detected CHD by fetal echocardiography during the study period (1994,1997, 10.3%; 1998,2001, 17.3%; and 2002,2005, 24.3%). The mean gestational ages at diagnosis and delivery were 27.2 5.6 and 37.8 2.9 weeks, respectively. Overall, the pregnancy termination rate in this study population was 20.2% and the perinatal and 1-year infant mortality rates were 6.3% and 9.7%, respectively. Among the fetuses who underwent cardiac surgery, surgical mortality occurred in two (3.8%); both died more than 1 month after surgery. Although the pregnancy termination rates remained unchanged, there was a significant decrease in perinatal and 1-year infant mortality rates over the study period. Conclusion:, Although the perinatal and 1-year infant mortalities following prenatally-detected CHD have continued to decrease significantly during the past 11 years, pregnancy termination rates have remained unchanged. [source]

    Fetal arrhythmia: Prenatal diagnosis and perinatal management

    Yasuki Maeno
    Abstract The importance of managing fetal arrhythmia has increased over the past three decades. Although most fetal arrhythmias are benign, some types cause fetal hydrops and can lead to fetal death. With the aim of improving the outcome in such cases, various studies for prenatal diagnosis and perinatal management have been published. Detailed analysis of the type of arrhythmia in utero is possible using M-mode and Doppler echocardiography. In particular, a simultaneous record of Doppler waveform at the superior venous cava and the ascending aorta has become an important and useful method of assessing the interval between atrial and ventricular contractions. Common causes of fetal tachycardia (ventricular heart rate faster than 180 bpm), are paroxysmal supraventricular tachycardia (SVT) with 1:1 atrioventricular (AV) relation and atrial flutter with 2:1 AV relation. Of fetal SVT, short ventriculo-atrial (VA) interval tachycardia due to atrioventricular reentrant tachycardia is more common than long VA interval. Most fetuses with tachycardia are successfully treated in utero by transplacental administration of antiarrhythmic drugs. Digoxin is widely accepted as a first-line antiarrhythmic drug. Sotalol, flecainide and amiodarone are used as second-line drugs when digoxin fails to achieve conversion to sinus rhythm. Fetal bradycardia is diagnosed when the fetal ventricular heart rate is slower than 100 bpm, mainly due to AV block. Approximately half of all cases are caused by associated congenital heart disease, and the remaining cases that have normal cardiac structure are often caused by maternal SS-A antibody. The efficacy of prenatal treatment for fetal AV block is limited compared with treatment for fetal tachycardia. Beta stimulants and steroids have been reported as effective transplacental treatments for fetal AV block. Perinatal management based on prospective clinical study protocol rather than individual experience is crucial for further improvement of outcome in fetuses with tachycardia and bradycardia. [source]

    Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood

    Akihiko Sekizawa
    Abstract Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the fetus and/or mother. Therefore, in recent years, considerable effort has been made to develop non-invasive prenatal diagnostic procedures. One potential non-invasive approach involves analysis of cell-free fetal DNA in maternal plasma or serum. Another approach utilizes fetal cells within the maternal circulation as a source of fetal DNA. At the present time, fetal gender and fetal RhD blood type within RhD-negative pregnant women can be reliably determined through analysis of maternal plasma. Furthermore, genetic alterations can be diagnosed in the maternal plasma when the mother does not have the alterations. However, the diagnosis of maternally inherited genetic disease and aneuploidy is limited using this approach. Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, separation methods, including a lectin-based method and autoimage analyzing, have been developed, which have improved the sensitivity of genetic analysis. This progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders. In the present article, we discuss recent advances in the field of non-invasive prenatal diagnosis. [source]

    Imaging of congenital lower respiratory tract malformations: Prenatal diagnosis by magnetic resonance imaging

    Dr. Anne M. Hubbard
    No abstract is available for this article. [source]

    Imaging of congenital lower respiratory tract malformations: Prenatal diagnosis by magnetic resonance imaging

    Dr. Anne M. Hubbard
    No abstract is available for this article. [source]

    Prenatal diagnosis of agenesis of corpus callosum: what is the neurodevelopmental outcome?

    Abstract Background: Corpus callosum is the largest cerebral commissure that connects neocortical areas. Agenesis of corpus callosum (ACC) can be partial or complete, isolated or associated with other malformations. Its prenatal diagnosis creates problems within parental counselling due to its uncertain prognosis. The aim of this study was to correlate the neurodevelopmental outcome with both the clinical picture and the neuroradiological features, in order to improve prenatal parental counselling in a group of nine children with ACC, prenatally diagnosed by ultrasound and then confirmed by postnatal magnetic resonance imaging (MRI). Methods: In all patients, cerebral ultrasound scans, electroencephalogram (EEG) examinations, cerebral MRI, cytogenetic analysis, general physical evaluation, neurological examination and neuropsychological assessment (Griffiths Scale, Wechsler Primary and Preschool Scale of Intelligence, Wechsler Intelligence Scale for Children) were carried out. Results: In six patients the callosal agenesis was isolated, while in 3/9 it was associated with other cerebral malformations. Children with isolated callosal agenesis were asymptomatic or presented a mild hypotonia and the EEG was normal in five of them. All children with other associated brain malformations presented epilepsy, poor psychomotor development and cerebral palsy. Conclusion: The prenatal suspicion of ACC needs an accurate diagnostic approach, in order to well determine its isolated or associated nature, linked to different neurodevelopmental outcome. [source]

    Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE),

    Sandra Mercier
    Abstract Holoprosencephaly (HPE) is a structural anomaly of the developing brain in which the forebrain fails to divide into two separate hemispheres and ventricles. The poor prognosis in the most severe forms justifies the importance of genetic counseling in affected families. The genetic counseling requires a thorough clinical approach given the extreme variability of phenotype and etiology. The karyotype is an essential diagnostic tool. Since mutations in the four major genes (SHH, ZIC2, SIX3, and TGIF) have been identified in HPE patients, molecular study is performed routinely in nonsyndromic HPE. New molecular tools, such as array-CGH analysis, are now part of the diagnostic process. Prenatal diagnosis is based primarily on fetal imaging, but "molecular" prenatal diagnosis can be performed if a mutation has been previously identified in a proband. Interpretations of molecular diagnosis must be given with caution, given the lack of strict genotype,phenotype correlation, and should be offered in addition to fetal imaging, using ultrasound followed by fetal MRI. We report on our experience of 15 molecular prenatal diagnoses from chorionic villi or amniotic fluid sampling. In eight instances, we were able to reassure the parents after taking into account the absence of the mutation in the fetus, previously identified before in a parent and/or a proband. Fetal RMI was normal later in pregnancy, and no child had medical problems after birth. The mutation was found in the seven other cases: four children were born, either without brain malformation and asymptomatic, or had a less severe form than the index case. 2010 Wiley-Liss, Inc. [source]

    Prenatal diagnosis of fetal arachnoid cyst of the quadrigeminal cistern in ultrasonography and MRI

    PRENATAL DIAGNOSIS, Issue 11 2009
    Kazufumi Haino
    No abstract is available for this article. [source]

    Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence,

    PRENATAL DIAGNOSIS, Issue 11 2009
    Ingrid Witters
    First page of article [source]

    Prenatal diagnosis of orofacial clefts, National Birth Defects Prevention Study, 1998,2004,

    PRENATAL DIAGNOSIS, Issue 9 2009
    Candice Y. Johnson
    Abstract Objective The aims of this study were to determine how frequently orofacial clefts were diagnosed prenatally and to investigate factors associated with prenatal diagnosis. Methods We included 2298 mothers from the National Birth Defects Prevention Study, each of whom gave birth to a child with an orofacial cleft, and assessed associated factors using logistic regression. Results The frequencies of prenatal diagnosis for cleft lip and palate, cleft lip only, and cleft palate only were 33.3%, 20.3%, and 0.3%, respectively. Among cases with cleft lip with or without cleft palate, cleft type, geographic location, maternal body mass index, household income, year of infant's birth, and presence of multiple birth defects were significantly associated with receiving a prenatal diagnosis. Conclusion In the majority of infants with orofacial clefts, a prenatal diagnosis was not made. Receiving a prenatal diagnosis was significantly associated with several infant and maternal characteristics. Copyright 2009 John Wiley & Sons, Ltd. [source]

    Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH

    PRENATAL DIAGNOSIS, Issue 9 2009
    Emmanouil Manolakos
    First page of article [source]

    Prenatal diagnosis of a spontaneous dural sinus thrombosis

    PRENATAL DIAGNOSIS, Issue 8 2009
    G. Legendre
    First page of article [source]

    Prenatal diagnosis of hemoglobin Bart's disease caused by co-inheritance of two different ,0 -thalassemia defects in China

    PRENATAL DIAGNOSIS, Issue 6 2009
    Dong-Zhi Li
    No abstract is available for this article. [source]

    Prenatal diagnosis of esophageal duplication cyst: the value of prenatal MRI

    PRENATAL DIAGNOSIS, Issue 5 2009
    Andrea Conforti
    No abstract is available for this article. [source]

    Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

    PRENATAL DIAGNOSIS, Issue 2 2009
    N. Winer
    No abstract is available for this article. [source]