Abstract Introduction: Thrombocytopenia affects about 10% of all pregnancies. Preeclampsia/HELLP syndrome induced thrombocytopenia may associate perinatal morbidity, preterm delivery, or low-birth-weight newborns. Objective: to assess perinatal outcome and complications of pregnancy in women presenting with thrombocytopenia. Methods: We retrospectively analyzed 936 consecutive pregnant women admitted during a 6-month period. Results: ...

Abstract Objective: To determine if midpregnancy levels of angiogenic markers were associated with increased risk of preterm delivery (PTD). Methods: We studied a subcohort from the Pregnancy Outcomes and Community Health Study for whom midpregnancyangiogenic markers [(soluble fms-like tyrosine kinase-1 (sFlt-1), soluble endoglin (sEng), and placental growth factor (PlGF)], and ...

The coincidence of malignant disease during pregnancy is uncommon. The incidence of cancer in pregnancy has increased, due to the tendency to postpone childbirth to an older age. Cancer complicates approximately 0.1% of all pregnancies. Managing head and neck cancers during pregnancy requires additional pregnancy-related understanding of the aetiological effect ...

ABSTRACT: Critical illness is an uncommon but potentially devastating complication of pregnancy. The majority of pregnancy-related critical care admissions occur postpartum. Antenatally, the pregnant patient is more likely to be admitted with diseases non-specific to pregnancy, such as pneumonia. Pregnancy-specific diseases resulting in ICU admission include obstetric hemorrhage, pre-eclampsia/eclampsia, HELLP ...

Abstract Aim: To determine the recurrence risk for hypertensive diseases in pregnancy after HELLP (Hemolysis Elevated Liver enzymes and Low Platelets) syndrome in a first pregnancy. Methods: The study was designed as a cohort study investigating 148 Caucasian primiparae with a diagnosis of HELLP syndrome in a first pregnancy and ...

Elevated prolactin during pregnancy increases neurogenesis in the subventricular zone of the lateral ventricle (SVZ) of the maternal brain. Evidence from our laboratory has shown that low prolactin in early pregnancy, and the consequent suppression of neurogenesis in the SVZ in the adult brain, is associated with increased postpartum anxiety ...

The aim of the study was to investigate the content and distribution of sugar residues in placentas from pregnancies complicated by hypertensive disorders. Placentas from women with uncomplicated pregnancies (group 1), pregnancies complicated by gestational hypertension (group 2), pregnancies complicated by pre-eclampsia (group 3), pregnancies complicated by pre-eclampsia with HELLP ...

ABSTRACT: BACKGROUND: Gestational hypertension (GH) and pre-eclampsia (PE) can result in severe complications such as eclampsia, placental abruption, syndrome of Hemolysis, Elevated Liver enzymes and Low Platelets (HELLP) and ultimately even neonatal or maternal death. We recently showed that in women with GH or mild PE at term induction of ...

Please cite this paper as: Whitehead C, Palmer K, Nilsson U, Gao Y, Saglam B, Lappas M, Tong S. Placental expression of a novel primate-specific splice variant of sFlt-1 is upregulated in pregnancies complicated by severe early onset pre-eclampsia. BJOG 2011; DOI: 10.1111/j.1471-0528.2011.02962.x. sFlt-1 is increased in the placenta and ...

Recent evidence suggests that treatment with low-dose acetylsalicylic acid (ASA) started early in pregnancy could prevent preeclampsia and intrauterine growth restriction (IUGR), two complications involving placental dysfunction. Preterm birth could also potentially be prevented, suggesting that it could share mechanisms of disease with preeclampsia and intrauterine growth restriction. Because there ...

To determine the relationship between the timing of chemistry and timing of prenatal diagnosis and pregnancy termination in pregnancies with chromosomal abnormalities. Singleton pregnancies with chromosomal abnormalities from 2005 to 2009 were identified. Records were reviewed to identify timing of chemistry, nuchal translucency (NT), prenatal diagnosis and pregnancy termination. Mann-Whitney ...

To evaluate the usefulness of subtelomeric multiplex ligation-dependent probe amplification (MLPA) in both the detection of subtelomeric rearrangements in fetuses with ultrasound abnormalities and normal karyotype, and the characterization of cytogenetically detectable rearrangements. We studied by subtelomeric MLPA 229 pregnancies with ultrasound findings and normal karyotype (Group 1) and five ...

The aim of this study was to determine the distribution of cases associated with congenital abnormalities during the following three periods: pregnancy, birth, and the neonatal period. This was a retrospective study of cases between 2002 and 2006. All abnormal pregnancies, elective terminations of pregnancies, stillbirths, and births with congenital ...

Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications. There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269 prenatal aCGHs between 2006 and 2009. The indications for testing were fetal anomalies on ultrasound (U/S), advanced ...

To study the influence of types 2 and 3 confined placental mosaicism (CPM) on pregnancy outcome. From 13 809 chorionic villus samplings (CVSs), karyotype after long-term cultured villi (LTC-villi) was systematically performed. Next, in case of suspicion of CPM, karyotype after short-term cultured villi (STC-villi) was established to define type ...

Molecular diagnosis and prenatal care of two pregnant women at risk of transmitting immunodysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome. FOXP3 coding sequence and exon boundaries were analyzed in the two consultants and family members. Non-invasive sex determination and specific prenatal diagnosis was realized. Following sequence analysis a new FOXP3 mutation ...

To evaluate the fetal loss rate associated with second trimester amniocentesis. All cases of pregnant women ≥35 years old with gestational age beyond 16 weeks between 1997 and 2006 were included in this study. The study group consisted of all cases that the patients decided to have second trimester genetic amniocentesis. ...

Approximately 6600 cases of medical termination of pregnancy are performed in France annually, of which 78% are performed during the second or third trimester of pregnancy. There are few data and no recommendations regarding anesthesia and analgesia for these late terminations. The aims of this study were to determine the ...

Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, Daniels G, Chitty LS. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. The effectiveness and clinical utility of non-invasive prenatal diagnosis (NIPD) for fetal sex determination using cell-free fetal DNA (cffDNA) was assessed by undertaking ...

OBJECTIVE: The purpose of this study was to evaluate the office-based component of delayed entry into prenatal care. STUDY DESIGN: Phone numbers for all obstetrics offices in a single state were obtained from a commercial list. A research assistant who posed as a newly pregnant, fully insured woman asked each ...

Improvements in obstetric sonography (US) have led to an increased prenatal detection of clubfoot, but studies have not been able to correlate sonographic severity to clinical deformity at birth. The purpose of this study was to decrease the false positive (FP) rate for prenatally identified clubfeet, and to predict clinical ...

The objective was to determine the risk of sampling error in amniocentesis and chorionic villus sampling (CVS) in singleton and multiple pregnancies. Data from this and other published studies were used to discuss current practice guidelines for molecular identity testing. Clinical and laboratory records of all patients undergoing molecular-based identity ...

Abstract A prenatal ultrasound diagnosis of epignathus in a dichorionic-diamniotic twin pregnancy is reported. A complex mass protruding from the fetal face was seen at week 19. Amniocentesis resulted in a 46,XX fetus with elevated alpha-fetoprotein (alpha-FP). An increase in tumor size and severe polyhydramnios ensued. Selective feticide performed at ...

Arthrogryposis Multiplex Congenital (AMC) is a group of muscular, neurologic and connective tissue disorders, characterized by multiple severe joint contractures and decreased mobility. The incidence of this condition is 1/3000 births while the etiology is variable. Prenatal assessment of arthrogryposis has focused primarily on diminished fetal movement and the presence ...

INTRODUCTION: Chorioamnionitis is a common cause of second trimester pregnancy loss, usually due to ascending infection. This study investigates the prevalence and bacteriology of chorioamnionitis in cases of spontaneous pregnancy loss in previable gestations (16-22 weeks). METHODS: Fetal losses between 16- and 22-week gestation were identified from the institutional database ...

The objectives of this study were (1) to evaluate if the elevation of maternal serum alpha-feto protein (MSAFP) and pregnancy-associated placental protein-A (PAPP-A) in the maternal blood after chorionic villous sampling (CVS) is associated with a higher preeclampsia (PE) rate and (2) to verify the clinical utility of the analytes ...

To determine if diminished ovarian reserve (measured by maternal antimullerian hormone (AMH) levels), is associated with fetal aneuploidy (determined by prenatal karyotype). This case-control study included 213 women with singleton pregnancies who underwent both serum aneuploidy screening and invasive prenatal diagnosis. 18 patients carrying an aneuploid fetus served as cases ...

OBJECTIVE: To compare the outcomes of the first 50 cordocenteses at mid-gestation performed by operators who either or not received training on an in vitro model earlier. MATERIALS AND METHODS: Our unit keeps a prospective database on procedure details and outcomes of cordocenteses. We compared 50 consecutive procedures, from the ...

Rhesus (Rh) D blood group incompatibility between a pregnant woman and the fetus can occasionally cause maternal alloimmunization and hemolytic disease of the fetus and of the newborn in subsequent pregnancies. RHD genotyping of fetuses carried by RhD-negative women using fetal DNA obtained invasively through amniocentesis or chorionic villus sampling ...

OBJECTIVE: The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy. DESIGN: A prospective clinical trial was carried out to evaluate diagnostic accuracy. SETTING: Women were recruited at four centres ...

OBJECTIVE: To perform the ultrastructural examination of a chorionic villi biopsy as a predictor of foetal involvement in the infantile form of glycogenosis type II (Pompe disease). METHODS: Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three consecutive pregnancies in a woman with a previous child ...

OBJECTIVES: The purpose of this series was to identify vascular rings prenatally on fetal echocardiograms. METHODS: We reviewed the fetal echocardiograms and clinical histories of 9 patients with a diagnosis of vascular rings at our institution from 2004 to 2009. Eight patients had a prenatal diagnosis by fetal echocardiography. One ...

This study investigated parental decision-making to terminate or continue a pregnancy after prenatal diagnosis of a chromosomal abnormality among a sample of patients in Southeast Turkey. Between 2004 and 2007, 1068 amniocentesis tests were performed in the Medical Biology and Genetic Department Laboratory at Dicle University. Aneuploidy was found in ...

OBJECTIVE: To compare the fetal loss rate <24 weeks and the preterm premature rupture of the membranes <34 weeks' gestation according to type of invasive procedure and to sampling techniques in twins. STUDY DESIGN: Retrospective cohort study of 204 twin pregnancies, who underwent amniocentesis (100) or chorionic villus sampling (104). ...

The case we describe reports the early sonographic findings of sirenomelia with oligodactylia at 9 weeks of gestation by transvaginal two-dimensional color Doppler ultrasonography imaging and its confirmation by hysteroscopic embryoscopy at 12 weeks to further characterize the findings. The embryo showed increased nuchal translucency and fused lower limbs with ...

The aim of this study was to evaluate the degree of acceptability of prenatal diagnosis and voluntary termination of pregnancy in case of a fetus affected with beta-thalassemia major (beta-TM) in patients and their parents in Southern Iran. We interviewed 510 parents who had beta-TM children and 254 patients. A ...

We present a rare case of congenital cystic adenomatoid malformation (CCAM) type III (mycrocystic) in young, 19 years old primigravida. Diagnosis has been accomplished by ultrasound examination in 26th week of gestation. Hyperechogenic, mycrocystic mass was found in left pulmonary lobe with contra lateral displacement of mediastinum, hypoplasia of the ...

Preimplantation genetic diagnosis (PGD) involves testing of single cells biopsied from oocytes and/or embryos generated in vitro. As only embryos unaffected for a given genetic condition are transferred to the uterus, it avoids prenatal diagnosis and termination of pregnancy. Follow-up data from PGD pregnancies, deliveries and children show an acceptable ...

To determine if preimplantation genetic diagnosis (PGD) for translocation carriers with three or more pregnancy losses reduces loss rates. Retrospective review of data. Preimplantation genetic diagnosis laboratory servicing IVF groups. Patients (n = 192) undergoing PGD for either a reciprocal translocation or Robertsonian translocation who had three or more previous ...

OBJECTIVE: To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus. CASE REPORT: A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ...

Abstract A prenatal ultrasound diagnosis of epignathous in a dichorionic-diamniotic twin pregnancy is reported. A complex mass protruding from the fetal face was seen at week 19. Amniocentesis resulted in a 46,XX fetus with elevated -FP. Increase in tumor size and severe polyhydramnios ensued. Selective feticide performed at 22 weeks ...

Preimplantation genetic diagnosis (PGD) is usually used to establish a non-affected pregnancy for those couples facing a genetic risk of having an affected child. However, an invasive test is still recommended to all PGD patients due to the risk of misdiagnosis. The discovery of cell-free fetal DNA in maternal plasma ...

OBJECTIVE: To provide information to genetic counsellors, midwives, nurses, and physicians who are involved in the prenatal care of women dealing with prenatally diagnosed isolated or multiple structural congenital anomalies. OUTCOMES: To provide better counselling for women and families who are dealing with the diagnosis of a fetal structural anomaly. ...

This study aimed to identify the variables that influence parental treatment decisions after a prenatal diagnosis of congenital heart disease (CHD). The authors reviewed all cases of prenatally diagnosed structural CHD from August 1998 to December 2006 at their center. The following variables were studied as potential predictors of parental ...

We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The ...

OBJECTIVE: To evaluate a non-invasive molecular test using free circulating fetal DNA in maternal plasma to predict the fetal RHD type. DESIGN: A prospective cohort study. PARTICIPANTS AND SETTING: Venous blood samples were collected from 140 Rhesus (Rh) D-negative women booked for antenatal care in two tertiary maternity hospitals in ...

BACKGROUND: The aetiology of autism is unknown, although prenatal exposures have been the focus of epidemiological research for over 40 years. AIMS: To provide the first quantitative review and meta-analysis of the association between maternal pregnancy complications and pregnancy-related factors and risk of autism. METHOD: PubMed, Embase and PsycINFO databases ...

OBJECTIVE: To assess the fetal loss rate following amniocentesis and chorionic villus sampling (CVS). METHODS: This was a national registry-based cohort study, including all singleton pregnant women who had an amniocentesis (n = 32 852) or CVS (n = 31 355) in Denmark between 1996 and 2006. Personal registration numbers ...

OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include information about livebirths, fetal deaths with GA > or = 20 ...

After the revolutionary detection of ffDNA (free fetal DNA) in maternal circulation by real-time PCR in 1997 and advances in molecular techniques, NIPD (non-invasive prenatal diagnosis) is now a clinical reality. Non-invasive diagnosis using ffDNA has been implemented, allowing the detection of paternally inherited alleles, sex-linked conditions and some single-gene ...