Human maternal uniparental disomy for chromosome 16 and fetal development.

abstract：OBJECTIVE:Maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) are useful markers in the screening of Down syndrome in the first trimester. We investigated the effect of intracytoplasmic sperm injection (ICSI), freezing and thawing of embryos on the levels...

journal_title：Prenatal diagnosis

authors： Hui PW,Lam YH,Tang MH,NG EH,Yeung WS,Ho PC

更新日期：2005-05-01 00:00:00

abstract：:We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...

journal_title：Prenatal diagnosis

authors： Webb AL,Sturgiss S,Warwicker P,Robson SC,Goodship JA,Wolstenholme J

更新日期：1996-10-01 00:00:00

abstract：:The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that the...

journal_title：Prenatal diagnosis

authors： Fisher J

更新日期：2011-01-01 00:00:00

abstract：:Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafè-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed t...

journal_title：Prenatal diagnosis

authors： Origone P,Bonioli E,Panucci E,Costabel S,Ajmar F,Coviello DA

更新日期：2000-09-01 00:00:00

abstract：:In a woman with a partial hydatidiform molar pregnancy with 69,XXY karyotype, the presence of male fetal cells of trophoblastic origin was demonstrated in maternal blood by X/Y-chromosome specific PCR and by immunostaining combined with FISH on two cell populations isolated from maternal blood. Blood was obtained thre...

journal_title：Prenatal diagnosis

authors： van Wijk IJ,de Hoon AC,Griffioen S,Mulders MA,Tjoa ML,van Vugt JM,Oudejans CB

更新日期：2001-12-01 00:00:00

abstract：:Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent...

journal_title：Prenatal diagnosis

authors： Schoenfeld A,Ovadia J,Neri A,Abramovici A,Klibanski C

更新日期：1982-07-01 00:00:00

abstract：:Circulating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy-associated plasma protein A (PAPP-A), decidual (pregnancy protein 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic vil...

journal_title：Prenatal diagnosis

authors： Stabile I,Warren R,Rodeck C,Grudzinskas JG

更新日期：1988-06-01 00:00:00

abstract：OBJECTIVE:To assess the frequency of cytotrophoblastic cells in endocervical samples collected by lavage at early stages of gestation using a specific anti-HLA-G McAb (G233). From a set of four selected samples, cells identified by immunostaining were collected by laser microdissection and then tested by quantitative f...

journal_title：Prenatal diagnosis

authors： Bulmer JN,Cioni R,Bussani C,Cirigliano V,Sole F,Costa C,Garcia P,Adinolfi M

更新日期：2003-01-01 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...

journal_title：Prenatal diagnosis

authors： Langford K,Hodgson S,Seller M,Maxwell D

更新日期：2000-08-01 00:00:00

abstract：OBJECTIVE:Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis. METHODS:From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal...

journal_title：Prenatal diagnosis

authors： Papoulidis I,Siomou E,Sotiriadis A,Efstathiou G,Psara A,Sevastopoulou E,Anastasakis E,Sifakis S,Tsiligianni T,Kontodiou M,Malamaki C,Tzimina M,Petersen MB,Manolakos E,Athanasiadis A

更新日期：2012-07-01 00:00:00

abstract：OBJECTIVES:We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. METHODS:A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake data f...

journal_title：Prenatal diagnosis

authors： Hill M,Twiss P,Verhoef TI,Drury S,McKay F,Mason S,Jenkins L,Morris S,Chitty LS

更新日期：2015-10-01 00:00:00

abstract：OBJECTIVE:To present a series of cases with a sonographic thick and heterogeneous placenta, and to review the literature. METHODS:A series of 16 cases were analyzed. A heterogeneous placenta was defined as a thick placenta with a patchy decrease of echogenicity, which quivered like jelly to sharp abdominal pressure. A...

journal_title：Prenatal diagnosis

authors： Raio L,Ghezzi F,Cromi A,Nelle M,Dürig P,Schneider H

更新日期：2004-03-01 00:00:00

abstract：OBJECTIVES:The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell an...

journal_title：Prenatal diagnosis

authors： Colah R,Surve R,Nadkarni A,Gorakshakar A,Phanasgaonkar S,Satoskar P,Mohanty D

更新日期：2005-05-01 00:00:00

abstract：:Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening fo...

journal_title：Prenatal diagnosis

authors： Nazareth SB,Lazarin GA,Goldberg JD

更新日期：2015-10-01 00:00:00

abstract：:Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation with paediatric su...

journal_title：Prenatal diagnosis

authors： Kerner B,Flaum E,Mathews H,Carlson DE,Pepkowitz SH,Hixon H,Graham JM Jr

更新日期：1998-01-01 00:00:00

abstract：:Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...

journal_title：Prenatal diagnosis

authors： Vamos E,Pratola D,Van Regemorter N,Freund M,Flament-Durand J,Rodesch F

更新日期：1985-05-01 00:00:00

abstract：OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...

journal_title：Prenatal diagnosis

authors： Donalson K,Turner S,Wastell H,Cuckle H

更新日期：2008-10-01 00:00:00

abstract：:A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period bet...

journal_title：Prenatal diagnosis

authors： Hammer P,Holzgreve W,Karabacak Z,Horst J,Miny P

更新日期：1991-02-01 00:00:00

abstract：:In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...

journal_title：Prenatal diagnosis

authors： Kirkinen P,Jouppila P

更新日期：1984-11-01 00:00:00

abstract：OBJECTIVE:Accounting for possible recombinations in developing an accurate preimplantation genetic diagnosis (PGD) protocol based on familial haplotypes. METHODS:Haplotypes were constructed from genomic DNA in a family where the male was affected with tuberous sclerosis complex (TSC). Embryos were biopsied at day 3, a...

journal_title：Prenatal diagnosis

authors： Altarescu G,Eldar Geva T,Brooks B,Margalioth E,Levy-Lahad E,Renbaum P

更新日期：2008-10-01 00:00:00

abstract：:Superoxide dismutase (SOD: EC1.15.1.1) has been shown to increase in Down syndrome (DS) subjects and in amniotic fluid from DS affected pregnancies. In order to verify a possible increase of maternal serum SOD in DS affected pregnancies and its possible contribution in prenatal screening, the serum enzyme activity was...

journal_title：Prenatal diagnosis

authors： Ognibene A,Ciuti R,Tozzi P,Messeri G

更新日期：1999-11-01 00:00:00

abstract：:Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we de...

journal_title：Prenatal diagnosis

authors： Hurst J,Firth HV,Chitty LS

更新日期：2008-07-01 00:00:00

abstract：:We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in ut...

journal_title：Prenatal diagnosis

authors： D'Ercole C,Boubli L,Franck J,Casta M,Harle JR,Chagnon C,Cravello L,Leclaire M,Blanc B

更新日期：1995-12-01 00:00:00

abstract：OBJECTIVES:To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. METHODS:NT was classified 'enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syn...

journal_title：Prenatal diagnosis

authors： Zoppi MA,Ibba RM,Floris M,Manca F,Axiana C,Monni G

更新日期：2005-05-01 00:00:00

abstract：:Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...

journal_title：Prenatal diagnosis

authors： Schilirò G,Romeo MA,Mollica F

更新日期：1988-03-01 00:00:00

abstract：OBJECTIVE:To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. PATIENTS AND METHODS:Pregnant women receiving antenatal care in a decentralized primary care s...

journal_title：Prenatal diagnosis

authors： de Graaf IM,Tijmstra T,Bleker OP,van Lith JM

更新日期：2002-07-01 00:00:00

abstract：OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...

journal_title：Prenatal diagnosis

authors： Tao J,Li N,Liu Z,Qiu J,Deng Y,Li X,Chen M,Yu J,Zhu J,Yu P,Wang Y

更新日期：2019-10-01 00:00:00

abstract：OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...

journal_title：Prenatal diagnosis

authors： Odibo AO,Najaf T,Vachharajani A,Warner B,Mathur A,Warner BW

更新日期：2010-06-01 00:00:00

abstract：:Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...

journal_title：Prenatal diagnosis

authors： Amiel J,Gigarel N,Benacki A,Benit P,Valnot I,Parfait B,Von Kleist-Retzow JC,Raclin V,Hadj-Rabia S,Dumez Y,Rustin P,Bonnefont JP,Munnich A,Rötig A

更新日期：2001-07-01 00:00:00

abstract：OBJECTIVE:The co-occurrence of cancer and pregnancy is more frequently diagnosed. The effects of cancer treatment on maternal and fetal outcomes are less well known. The cardiotoxic effects of chemotherapy are a specific concern for the mother and fetus. We wanted to review the existing literature, mainly consisting of...

journal_title：Prenatal diagnosis

authors： Gziri MM,Amant F,Debiève F,Van Calsteren K,De Catte L,Mertens L

更新日期：2012-07-01 00:00:00