Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.

Abstract:

:We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from their affected father. This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations.

journal_name

Fetal Diagn Ther

authors

Milunsky J,Maher T,Lebo R,Milunsky A

doi

10.1159/000020831

subject

Has Abstract

pub_date

1998-05-01 00:00:00

pages

167-8

issue

3

eissn

1015-3837

issn

1421-9964

pii

fdt13167

journal_volume

13

pub_type

杂志文章
  • Identification of Macrosomic, normal and intrauterine growth retarded neonates using the modified Neonatal Growth Assessment Score.

    abstract:OBJECTIVE:Separation of Macrosomic, normal and intrauterine growth retarded (IUGR) neonates using the modified Neonatal Growth Assessment Score (NGAS). METHODS:A sample of 23 neonates with evidence of growth acceleration and 74 neonates classified as normal or IUGR in a previous study was used in this investigation. T...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000074262

    authors: Deter RL,Spence LR

    更新日期:2004-01-01 00:00:00

  • Course of maternal serum magnesium levels in low-risk gestations and in preterm labor and delivery.

    abstract:OBJECTIVES:To describe the course of total and ionized magnesium and total calcium levels in maternal serum during low-risk pregnancies and to compare women who developed preterm labor and delivery with those who delivered at term. METHODS:209 women with low-risk pregnancies were enrolled in a prospective trial before...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000020952

    authors: Arikan GM,Panzitt T,Gücer F,Scholz HS,Reinisch S,Haas J,Weiss PA

    更新日期:1999-11-01 00:00:00

  • Human embryonic stem cells form embryoid bodies containing visceral endoderm-like derivatives.

    abstract:OBJECTIVE:The objective of this study was to determine the potential of human embryonic stem (hES) cells to provide an in vitro model of human extraembryonic endoderm development. METHODS:The hES cell line HES-2 was propagated in Dulbecco's modification of Eagle's medium (DMEM) in the presence of 20% fetal calf serum ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000076701

    authors: Conley BJ,Trounson AO,Mollard R

    更新日期:2004-05-01 00:00:00

  • Cord Occlusion in Monochorionic Twins with Early Selective Intrauterine Growth Restriction and Abnormal Umbilical Artery Doppler: A Consecutive Series of 90 Cases.

    abstract:OBJECTIVE:To describe perinatal outcomes achieved with cord occlusion (CO) in monochorionic twins with severe selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery Doppler in the IUGR twin (types II and III). METHODS:We studied a consecutive series of 90 cases of sIUGR with abnormal Doppler t...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000439023

    authors: Parra-Cordero M,Bennasar M,Martínez JM,Eixarch E,Torres X,Gratacós E

    更新日期:2016-01-01 00:00:00

  • Ehlers-Danlos type IV in pregnancy. A case report and a literature review.

    abstract:BACKGROUND:Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders, characterized by a defect in the synthesis of collagen. The syndrome is subdivided into different clinical subtypes, the most hazardous of which is type IV, the vascular type. It can manifest itself in various complications such ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章,评审

    doi:10.1159/000109218

    authors: Erez Y,Ezra Y,Rojansky N

    更新日期:2008-01-01 00:00:00

  • Limiting the Exposure of Select Fetuses to Intrauterine Infection/Inflammation Improves Short-Term Neonatal Outcomes in Preterm Premature Rupture of Membranes.

    abstract:BACKGROUND:To improve neonatal outcomes in pregnancies at heightened risk for early-onset neonatal sepsis (EONS), there is a need to identify fetuses that benefit from expectant management as opposed to early delivery. Detectable haptoglobin and haptoglobin-related protein (Hp&HpRP switch-on status) in cord blood has b...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000450997

    authors: Archabald KL,Buhimschi IA,Bahtiyar MO,Dulay AT,Abdel-Razeq SS,Pettker CM,Lipkind HS,Hardy JT,McCarthy ME,Zhao G,Bhandari V,Buhimschi CS

    更新日期:2017-01-01 00:00:00

  • Successful treatment of supraventricular tachycardia with flecainide acetate: a case report.

    abstract:BACKGROUND:Efficacy of flecainide acetate for the treatment of fetal supraventricular tachycardia with cardiac failure was reported. CASE:For a case in which maternal digoxin therapy failed, flecainide acetate (400 mg/day) is used from 27 weeks. Cardioversion with improved cardiac function occurred 6 days after treatm...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000264498

    authors: Amano K,Harada Y,Shoda T,Nishijima M,Hiraishi S

    更新日期:1997-11-01 00:00:00

  • The role of homeobox genes in the development of placental insufficiency.

    abstract::Intrauterine growth restriction (IUGR) is an adverse pregnancy outcome associated with significant perinatal and pediatric morbidity and mortality, and an increased risk of chronic disease later in adult life. While a number of maternal, fetal and environmental factors are known causes of IUGR, the majority of IUGR ca...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章,评审

    doi:10.1159/000339657

    authors: Murthi P,Kalionis B,Rajaraman G,Keogh RJ,Da Silva Costa F

    更新日期:2012-01-01 00:00:00

  • Enrichment of fetal nucleated red blood cells from the maternal circulation for prenatal diagnosis: experiences with triple density gradient and MACS based on more than 600 cases.

    abstract:OBJECTIVE:We wanted to obtain statistically relevant data about the efficiency of our method for the isolation of fetal nucleated red blood cells (NRBCs) from the maternal circulation. METHODS:More than 600 samples were investigated using a triple density gradient followed by magnetic separation of anti-CD71-labeled c...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000020854

    authors: Gänshirt D,Smeets FW,Dohr A,Walde C,Steen I,Lapucci C,Falcinelli C,Sant R,Velasco M,Garritsen HS,Holzgreve W

    更新日期:1998-09-01 00:00:00

  • Screening of fetal stem cells for infection and cytogenetic abnormalities.

    abstract::Fetal stem cell transplantation may rely on material from therapeutic abortions. It is essential that the stem cell transplant does not transmit any microorganisms that may affect the fetus and that genetically abnormal cells are avoided. To evaluate such contamination, human fetal stem cells collected February 1992 -...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000264065

    authors: Ek S,Westgren M,Pschera H,Seiger A,Sundström E,Bui TH,Ringdén O

    更新日期:1994-11-01 00:00:00

  • New first-trimester crown-rump length equations from a French general population.

    abstract:INTRODUCTION:The purpose of this study was to obtain precise knowledge of fetal biometric measurements, in particular crown-rump length (CRL). Our results have been carefully compared to equations found in the literature. MATERIALS AND METHODS:Single-operator measurements of 2,123 spontaneous pregnancies from a genera...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000339272

    authors: Constant M,Tran VC,Benoit B,Vasseur F

    更新日期:2012-01-01 00:00:00

  • Why cell culture is successful after early amniocentesis.

    abstract::The current interest in early amniocentesis as a possible alternative to chorion villus sampling has driven many centres to attempt cell culture from first trimester amniotic fluid. This study examines the cellular content of 125 amniotic fluid specimens collected between 8 and 18 weeks of gestation and shows that the...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000263628

    authors: Byrne D,Azar G,Nicolaides K

    更新日期:1991-01-01 00:00:00

  • Which stem cells should be used for transplantation?

    abstract::In view of the ever-increasing demand for human stem cells for transplantation, we initiated in vitro and in vivo studies of human fetal bone marrow stem/progenitor cells derived from lost pregnancies at 16-20 weeks. Utilizing non-human primates as models, we demonstrated that fetal tissue has distinctive biological a...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章,评审

    doi:10.1159/000074252

    authors: Michejda M

    更新日期:2004-01-01 00:00:00

  • Neonatal leukemoid reaction and early development of bronchopulmonary dysplasia in a very low-birth-weight infant.

    abstract::The factors controlling the recruitment of inflammatory cells and the activation of the cytokine cascade in low-birth-weight premature infants have been implicated in the sequence of multiorgan inflammatory diseases, including the chronic lung disease of prematurity, bronchopulmonary dysplasia. This article describes ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000053900

    authors: Zanardo V,Magarotto M,Rosolen A

    更新日期:2001-05-01 00:00:00

  • Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics.

    abstract::A case is presented in which X-linked ichthyosis was diagnosed prenatally using fluorescence in situ hybridization. Fetal sex was known by second trimester ultrasound in a woman with very low second trimester MSUE3. All of the 15 maternal peripheral blood metaphase spreads examined displayed two hybridization signals ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000264422

    authors: Santolaya-Forgas J,Cohen L,Vengalil S,Field F,Rodriguez A,McCorquadale M,McCorquadale DJ

    更新日期:1997-01-01 00:00:00

  • Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration.

    abstract::We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. We d...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000464462

    authors: Volpe N,Franchi L,Mazzone E,Migliavacca C,Raboni S,Percesepe A,Kaihura CT,Frusca T,Ghi T

    更新日期:2017-01-01 00:00:00

  • Biometry of the fetal heart between 10 and 17 weeks of gestation.

    abstract:OBJECTIVES:Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The struct...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000020970

    authors: Gembruch U,Shi C,Smrcek JM

    更新日期:2000-01-01 00:00:00

  • Dystrophic calcification of fetal myocardium: a case report.

    abstract:OBJECTIVE:A diagnosis of myocardial dystrophic calcification, a rare cause of fetal cardiac masses, is presented. METHODS:The fetal echocardiography of a 26-year-old pregnant woman who was referred to the Pediatric Cardiology Department at 20 weeks' gestation revealed an echogenic mass in the post wall of the left ven...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000151341

    authors: Baysal K,Haciomeroglu P,Sungur M,Köse B,Kandemir B

    更新日期:2008-01-01 00:00:00

  • Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.

    abstract::We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To our knowledge, this is the first report of fetal SEPCs in a patient with MDS. These findings may ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000209385

    authors: Rohrbach M,Chitayat D,Maegawa G,Shanske S,Davidzon G,Chong K,Clarke JT,Toi A,Tarnopolsky M,Robinson B,Blaser S

    更新日期:2009-01-01 00:00:00

  • Evaluation of prolonged fetal monitoring with normal and pathologic outcome probabilities determined by artificial neural network.

    abstract:OBJECTIVE:The purpose of this study was to objectively evaluate prolonged fetal heart rate (FHR) monitoring, which has been difficult to do with conventional cardiotocogram (CTG). METHODS:FHR was analyzed by an artificial neural network computer that calculates probabilities of normal, pathologic and suspicious outcom...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000071982

    authors: Maeda K,Noguchi Y,Matsumoto F

    更新日期:2003-09-01 00:00:00

  • Soluble intercellular adhesion molecule 1 in umbilical cord serum: potential for the diagnosis of neonatal infections.

    abstract:OBJECTIVE:To evaluate the diagnostic relevance to neonatal infections of the soluble intercellular adhesion molecule 1 (sICAM-1) cord serum level. METHODS:The case-control study included 66 term newborn infants with and without risk factors for neonatal infections. Cord blood serum determinations of white blood cell c...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000048032

    authors: Daraï E,Poncelet C,Soriano D,Lejeune V,Bringuier AF,Madelenat P,Feldmann G,Scoazec JY

    更新日期:2002-05-01 00:00:00

  • Membrane Separation and Perinatal Outcomes after Laser Treatment for Twin-Twin Transfusion Syndrome.

    abstract:INTRODUCTION:Postoperative membrane separation is a complication of selective laser photocoagulation of communicating vessels (SLPCV) for the treatment of twin-twin transfusion syndrome (TTTS). OBJECTIVE:The aim of this work was to determine whether a quantitative grading system of membrane separation following SLPCV ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000504361

    authors: De Zoysa MY,Chon AH,Korst LM,Llanes A,Chmait RH

    更新日期:2020-01-01 00:00:00

  • Role of ultrasonography in pregnancies with marker chromosome aneuploidy.

    abstract::The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000264230

    authors: Hume RF Jr,Drugan A,Ebrahim SA,Johnson MP,Isada NB,Reichler A,Evans MI

    更新日期:1995-05-01 00:00:00

  • First-trimester diagnosis of sirenomelia. A case report.

    abstract::We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章,评审

    doi:10.1159/000053929

    authors: Carbillon L,Seince N,Largillière C,Bucourt M,Uzan M

    更新日期:2001-09-01 00:00:00

  • Reported exposure to chickenpox: a predictor of positive anti-varicella-zoster antibodies in parturient women.

    abstract:OBJECTIVE:To determine the positive and negative predictive values of recalled exposure to chickenpox for identifying anti-varicella-zoster virus (VZV) seropositive parturient women. METHODS:Blood samples were taken from laboring women during February 1998: All women completed questionnaires concerning a history of ch...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000053952

    authors: Linder N,Ferber A,Kopilov U,Smetana Z,Barzilai A,Mendelson E,Sirota L

    更新日期:2001-11-01 00:00:00

  • Prenatal diagnosis of an epignathus associated with a 49,XXXXY karyotype--a case report.

    abstract:BACKGROUND:Epignathus is a rare form of congenital teratoma, originating from the base of the skull, most commonly the hard palate, or mandible. It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions. I...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000160219

    authors: Staboulidou I,Miller K,Göhring G,Hillemanns P,Wüstemann M

    更新日期:2008-01-01 00:00:00

  • Fetal longitudinal myocardial function assessment by anatomic M-mode.

    abstract:AIM:To evaluate the feasibility of offline anatomic M-mode (AMM) to study fetal atrioventricular annulus long-axis displacement (LAD) and compare its performance against real-time conventional M-mode (MM). MATERIAL AND METHODS:Paired AMM and MM LAD studies were recorded prospectively in 54 fetuses, and performance was...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000330790

    authors: Germanakis I,Pepes S,Sifakis S,Gardiner H

    更新日期:2012-01-01 00:00:00

  • Criteria for screening and diagnosis of gestational diabetes mellitus in the first trimester of pregnancy.

    abstract:OBJECTIVE:To propose new cutoffs in plasma glucose levels in screening and diagnosis of gestational diabetes mellitus (GDM) in the first trimester of pregnancy. METHODS:A 50-gram oral glucose challenge test (GCT) was performed in 1,716 singleton pregnancies at 6-14 weeks' gestation. In those with a positive GCT, a 100...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000324684

    authors: Plasencia W,Garcia R,Pereira S,Akolekar R,Nicolaides KH

    更新日期:2011-01-01 00:00:00

  • Pastoral care utilization among women electing pregnancy termination for fetal anomalies.

    abstract:OBJECTIVE:To identify determinants of requesting pastoral care (PC) at the time of pregnancy termination for fetal anomalies. METHODS:PC was provided by a hospital-based chaplain. Data were reviewed for 88 women who elected pregnancy termination. Nominal logistic regression and Kruskal-Wallis and Student t tests were ...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000020819

    authors: Brady TB,Lidums S,Yaron Y,Evans MI,Johnson MP,Kramer RL

    更新日期:1998-03-01 00:00:00

  • Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome. A case report.

    abstract:OBJECTIVES:This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the sev...

    journal_title:Fetal diagnosis and therapy

    pub_type: 杂志文章

    doi:10.1159/000020930

    authors: De Vos M,Nuytinck L,Verellen C,De Paepe A

    更新日期:1999-07-01 00:00:00