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The article discusses the importance of prenatal screening in the detection of a woman's risk of having a child with aneuploidy. A case of a 37-year-old woman at 8-weeks of pregnancy is highlighted to better understand the benefits and risks associated with the decision to undergo prenatal screening.

Effects of selection for reproductive traits were estimated using data from 3 pig lines derived from the same Large White population base. Two lines were selected for 6 generations on high ovulation rate at puberty (OR line) or high prenatal survival corrected for ovulation rate in the first 2 parities (PS line). The third line was an unselected control line. Genetic parameters for age and BW at puberty (AP and WP); number of piglets born alive, weaned, and nurtured (NBA, NW, and NN, respectively); proportions of still-birth (PSB) and survival from birth to weaning (PSW); litter and average piglet BW at birth (LWB and AWB), at 21 d (LW21 and AW21), and at weaning (LWW and AWW) were estimated using REML methodology. Heritability estimates were 0.38 [+ or -] 0.03, 0.46 [+ or -] 0.03, 0.16 [+ or -] 0.01, 0.08 [+ or -] 0.01, 0.09 [+ or -] 0.01, 0.04 [+ or -] 0.01, 0.04 [+ or -]0.02, 0.19 [+ or -] 0.02, 0.10 [+ or -] 0.02, 0.10 [+ or -] 0.02, 0.36 [+ or -]0.02, 0.27 [+ or -] 0.01, and 0.24 [+ or -] 0.01 for AP, WP, NBA, PSB, NW, NN, PSW, LWB, LW21, LWW, AWB, AW21, and AWW, respectively. The measures of litter size showed strong genetic correlations ([r.sub.a] [greater than or equal to] 0.95) and had antagonistic relations with PSB ([r.sub.a] = -0.59 to -0.75) and average piglet BW ([r.sub.a] = -0.19 to -0.46). They also had strong positive genetic correlations with prenatal survival ([r.sub.a] = 0.67 to 0.78) and moderate ones with ovulation rate ([r.sub.a] = 0.36 to 0.42). Correlations of litter size with PSW were negative at birth but positive at weaning. The OR and PS lines were negatively related to PSW and average piglet BW. Puberty traits had positive genetic correlations with OR and negative ones with PS. Genetic trends were estimated by computing differences between OR or PS and control lines at each generation using least squares and mixed model methodologies. Average genetic trends were computed by regressing line differences on generation number. Significant (P < 0.05) average genetic trends were obtained in OR and PS lines for AP (respectively, 2.1 [+ or -] 0.9 and 3.2 [+ or -] 1.0 d/generation) and WP (respectively, 2.0 [+ or -] 0.5 and 1.8 [+ or -] 0.5 d/generation) and in the PS line for NBA (0.22 [+ or -] 0.10 piglet/generation). Tendencies (P < 0.10) were also observed for LWB (0.21 [+ or -] 0.12 kg/generation) and AWW (-0.25 [+ or -] 0.14 kg/generation) in the PS line. Selection on components of litter size can be used to improve litter size at birth, but result in undesirable trends for preweaning survival. Key words: genetic parameter, litter size, ovulation rate, piglet survival, pig, prenatal survival

A theoretically-based, multivariate approach was used to identify factors associated with emotional distress for pregnant women undergoing maternal serum alpha fetoprotein (MSAFP or AFP) testing, used to detect abnormalities of [...]

Byline: Kerstin Amann (1), Christian Plank (2), Jorg Dotsch (2) Keywords: Nephron number; Low birth weight; Hypertension; Cardiovascular disease; Nephrogenesis; Prenatal programming Abstract: There is increasing evidence that primary hypertension, coronary heart disease, and other aspects of the so-called metabolic syndrome that develop in adulthood are primed in fetal life or early postnatally. The identification of this phenomenon, also known as prenatal or fetal programming, and the detailed characterization of the underlying pathomechanisms will greatly influence the understanding of these diseases. The present paper reviews recent experimental and clinical evidence that low nephron number, found in patients with renal dysplasia and low birth weight, is a risk factor for cardiovascular disease in later life. Therefore, it is important to identify children at risk as early as possible in order to treat them early and to prevent the development of end-organ damage. This could be an important goal for pediatrics in the near future. Author Affiliation: (1) Department of Pathology, University of Erlangen-Nurnberg, Krankenhausstrasse 8--10, 91054 Erlangen, Germany (2) Klinik fur Kinder und Jugendliche, University of Erlangen-Nurnberg, Erlangen, Germany Article History: Registration Date: 05/08/2004 Received Date: 07/05/2004 Accepted Date: 22/07/2004 Online Date: 14/10/2004

Byline: Eli Armando S. Rabelo (1), Eduardo A. Oliveira (1,4), Jose Silverio S. Diniz (1), Jose Maria P. Silva (1), Maria Tereza Freire Filgueiras (2), Isabela Leite Pezzuti (1), Edson Samesina Tatsuo (3) Keywords: Multicystic kidney; Prenatal diagnosis; Management; Ultrasonography; Hypertension Abstract: We report the long-term clinical results of conservative management of children with unilateral multicystic dysplastic kidneys (MCDK). Between 1989 and 2002, 43 children with MCDK detected by prenatal ultrasonography were prospectively followed. At birth, ultrasonography confirmed the prenatal findings in all cases. Patients underwent a radioisotope scan and micturating cystogram in order to confirm the diagnosis and to exclude other uropathies. Follow-up ultrasound (US) examinations were performed at 6-month intervals during the first 2 years of life and yearly thereafter. The mean follow-up time was 42 months (range 12--156 months). Two children developed hypertension during follow-up. In total 257 US scans were performed. The mean number of US scans per patient was 6 (range 3--10). US scans demonstrated partial involution of the MCDK in 30 (70%) cases and complete involution in 8 (19%). The absolute MCDK length remained almost unchanged in 5 children (11%). The estimated median time of complete involution of the MCDK was 122 months [95% confidence interval (CI)=86--158 months]. A total of 33 (76.7%) contralateral kidneys underwent compensatory hypertrophy, reaching a renal length above the 95th percentile during follow-up. The estimated median time for the occurrence of compensatory hypertrophy was 30 months (95% CI=15--45 months). In conclusion, the natural history of MCDK is usually benign but patients must have long-term follow-up with US scans and blood pressure measurements. Author Affiliation: (1) Pediatric Nephrourology Unit, Department of Pediatrics, Hospital das Clinicas, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil (2) Radiology Unit, Hospital das Clinicas, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil (3) Pediatric Surgery Unit, Department of Surgery, Hospital das Clinicas, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil (4) Rua Patagonia 515/701, Belo Horizonte, 30.320.080, Minas Gerais, Brazil Article History: Registration Date: 19/05/2004 Received Date: 25/11/2003 Accepted Date: 05/05/2004 Online Date: 16/07/2004

Byline: Norma I. Gavin (1), E. Kathleen Adams (2), Katherine E. Hartmann (3), M. Beth Benedict (4), Monique Chireau (5) Keywords: pregnancy; prenatal care; minority groups; Medicaid; health services Abstract: Objective: To assess the extent to which racial and ethnic disparities exist in the use of prenatal services among Medicaid pregnant women. Methods: Medicaid claims data for Florida, Georgia, New Jersey, and Texas, with linked birth certificate data for Georgia and Texas, were used to investigate the use of selected prenatal services, including the initiation and adequacy of prenatal care visits prescriptions for multiple vitamins and iron supplements and claims for complete blood cell counts, blood type and RH status, hepatitis B surface antigen, ultrasound, maternal serum alphafetoprotein, drug screening, and HIV tests. We computed raw and adjusted odds ratios of having the health service of interest during pregnancy for women in three minority groups: black non-Hispanics, Hispanics, and Asian/Pacific Islanders. Results: We found racial and ethnic disparities in the use of every health service investigated. Compared with white non-Hispanics, minority women were less likely to receive services that the woman initiates, discretionary services, and services potentially requiring specialized follow-up care, whereas they were more likely to receive screening tests for diseases related to high-risk behaviors. Disparities were generally larger, more consistent across states, and less likely to be explained by other factors among black non-Hispanics than among either Hispanics or Asian/Pacific Islanders. Conclusions: Even among women who are provided equal financial access to health care services, unexplained racial and ethnic disparities persist in the initiation and use of both routine and specialized prenatal care services. Author Affiliation: (1) RTI International, Research Triangle Park, North Carolina (2) Rollins School of Public Health, Emory University, Atlanta, Georgia, 30332 (3) The North Carolina Program for Women&apos;s Health Research, University of North Carolina, Chapel Hill, North Carolina (4) Office or Research, Development, and Information, Centers for Medicine and Medicare Services, Baltimore, Maryland (5) Department of Obstetrics and Gynecology, Division of Clinical and Epidemiologic Research, Duke University Medical School, Durham, North Carolina Article History: Registration Date: 23/09/2004

Byline: Mahtab Tehrani (1), Ivana M. Vettraino (2), Chung-ho Chang (1) Keywords: cardiac mass; fetal heart; fetal sonogram; localized nodular hypertrophy; rhabdomyoma; tuberous sclerosis Abstract: Multiple intracardiac masses (ICM) are considered to be diagnostic of rhabdomyoma often associated with tuberous sclerosis. We describe a fetus with multiple ICM detected by fetal sonography at 18.7 wk gestation. The appearance and number were consistent with leading diagnosis of rhabdomyoma. Due to complications of pregnancy and extreme prematurity, the fetus did not survive. Autopsy showed the cardiac masses to be localized nodular hypertrophy (LNH) of the myocardium. No features of rhabdomyoma or tuberous sclerosis were present. In a review of the literature, similar lesions were reported in a child and two adults, perhaps as localized variants of hypertrophic cardiomyopathy. Our case does not, however, show the histopathologic features of hypertrophic cardiomyopathy. Isolated developmental abnormalities, such as in this case, can have a mass effect mimicking cardiac tumors. At the time of autopsy, the largest mass in the anterior wall of the right ventricle extended to and obstructed the right ventricular outflow tract. Author Affiliation: (1) Department of Anatomic Pathology, William Beaumont Hospital, 3601 W. 13 Mile Road, Royal Oak, MI, 48073, USA (2) Department of Obstetrics and Gynecology, Division of Fetal Imaging, William Beaumont Hospital, 3601 W. 13 Mile Road, Royal Oak, MI, 48073, USA Article History: Registration Date: 01/01/2003 Received Date: 06/12/2002 Accepted Date: 18/10/2003 Online Date: 17/03/2004 Article note: The abstract was presented at the Fall Meeting of the Society for Pediatric Pathology, Dallas, Texas, USA, September 27--28, 2002.

Byline: Mirlene C.S.P. Cernach (1), Francy R.S. Patricio (2), Marcial F. Galera (3), Antonio F. Moron (4), Decio Brunoni (5) Keywords: autopsy; birth defects; congenital anomalies; genetic counseling; lethal anomalies; perinatal deaths Abstract: A study was conducted on 75 perinatal deaths with congenital anomalies through clinical, radiographic, cytogenetic, and autopsy evaluation, and the diagnoses of 72 patients (96%) were determined. In 11 patients with chromosomal anomalies, the cytogenetic study was sufficient to determine the diagnosis and the reproductive risk. In these cases, the value of the autopsy results resided above all in the description of the clinical variability. Radiographic evaluation was the best method to establish a diagnosis of skeletal dysplasias (14.7%). Furthermore, the X-rays showed small skeletal defects which are difficult to see on dissection. The clinical genetic evaluation with a detailed description of the phenotype and anthropometric exam, performed by a clinical geneticist, and the autopsy with gross and microscopic evaluation, facilitated the diagnoses of 50 cases (66.7%). We concluded that, in perinatal death with congenital anomalies, the teamwork of clinical geneticists and fetal pathologists increases the probability of determining the etiological diagnosis. This is essential to define the parents' reproductive risk, thus contributing to primary prevention of congenital anomalies. Author Affiliation: (1) Disciplina de Embriologia, Departamento de Morfologia, Universidade Federal de Sao Paulo--Escola Paulista de Medicina, Rua Botucatu, 740--Edificio Leitao da Cunha, 2deg andar, Sao Paulo--SP, Brazil sCEP--04023-900 (2) Setor de Patologia Pediatrica, Departamento de Anatomia Patologica, Universidade Federal de Sao Paulo--Escola Paulista de Medicina, Rua Botucatu, 740--Edificio Lemos Torres, 1deg andar, Sao Paulo--SP, Brazil CEP--04023-900 (3) Centro de Genetica Medica, Universidade Federal de Sao Paulo--Escola Paulista de Medicina, Rua Coronel Lisboa, 966--Vila Clementino, Sao Paulo--SP, Brazil CEP--04020-041 (4) Disciplina de Medicina Fetal, Departamento de Obstetricia, Universidade Federal de Sao Paulo--Escola Paulista de Medicina, Rua Napoleao de Barros, 715--8deg andar, Sao Paulo--SP, Brazil CEP--04024-002 (5) Disciplina de Genetica, Departamento de Morfologia, Universidade Federal de Sao Paulo--Escola Paulista de Medicina, Rua Botucatu, 740--Edificio Leitao da Cunha--1deg andar, Sao Paulo--SP, Brazil CEP--04023-900 Article History: Registration Date: 01/01/2001 Received Date: 05/11/2001 Accepted Date: 26/01/2004 Online Date: 17/06/2004

Byline: F.M. McCaffrey (1), F.S. Sherman (1) Keywords: Key words: Fetus -- Heart disease (congenital) -- Aortic stenosis Abstract: We sought to identify echocardiographic markers that might be useful for managing fetuses with significant aortic stenosis. The study was a retrospective review of fetal echocardiographic studies and postnatal outcomes of all fetuses diagnosed with significant aortic stenosis who did not have a hypoplastic left ventricle on the initial echocardiogram. Where possible, fetal echocardiographic measurements included the aortic, mitral, pulmonary, and tricuspid valve annulus sizes left ventricular dimensions and volume septal and left ventricular wall thicknesses and echocardiographic Doppler interrogation of the left heart and oval fossa. Observations also included an assessment of ascites, pericardial effusion, and endocardial fibroelastosis. Prenatal measurements were compared to postnatal outcomes. Four patients (group 1) had either clinically successful relief of their aortic obstruction (n= 3) or required no intervention (n= 1). Five fetuses evolved to the hypoplastic left heart syndrome (group 2). These infants demonstrated little or no growth in left ventricular, aortic valve, or mitral valve dimensions on serial examination. They also more often exhibited mitral stenosis, severe restriction of interatrial shunting, and early to mid second trimester left ventricular dilatation. Serial measurements of fetal cardiac size and function are helpful for predicting the postnatal outcome of fetuses with aortic stenosis. Author Affiliation: (1) Division of Pediatric Cardiology, University of Kentucky Medical Center, Room MN 472, 800 Rose Street, Lexington, KY 40536-0084, USA, US

Only a small proportion of parents of children with cystic fibrosis (CF) appear likely to use prenatal diagnostic procedures in the event of another pregnancy. Cystic fibrosis is an inherited disorder. Thirty-seven couples with one child affected by CF were interviewed and then followed for up to seven years. Twenty-one couples had decided against having further children at the time the study began. Fifty-one percent of parents interviewed indicated that they would probably or certainly obtain prenatal diagnostic testing should another pregnancy occur. There were 24 pregnancies in 18 couples. Prenatal testing occurred only in 4 (17%) cases even though five procedures had been arranged. Parents who expressed initial acceptance of prenatal testing may not have been facing another pregnancy or may have known they did not have access to prenatal testing., Objective. First trimester prenatal diagnosis (PD) by DNA analysis for cystic fibrosis (CF) has been available for parents of affected children since May 1986. Methods. In a prospective study 37 couples with a single child affected by CF were investigated. Fathers and mothers were interviewed simultaneously, and their attitudes towards further childbearing and potential utilization of PD ascertained. Parental answers were treated as one. A 7-year follow-up allowed comparison between intended and actual behavior. Results. At the time of the interview, 16 parents (43%) were determined to have further children. Nineteen parents (51%) said they would certainly or probably utilize PD in case of pregnancy. Their predominant reason for favoring PD was the strong desire to have a healthy child (47%) . Among the 18 rejectors (49%) the fear of an unsolvable conflict in case of an affected fetus prevailed (39%). Twenty-four pregnancies actually occurred in 18 families. Utilization of PD was arranged in five (21%) and finally performed in four (17%) cases. Conclusion. Availability of PD does not substantially change the reproductive behavior of parents of children with CF. Reasons for this were multifactorial with anticipated difficulty in deciding to continue or terminate pregnancy being predominant. Pediatrics 1994;94:13-16; behavior, cystic fibrosis, prenatal diagnosis, psychology.

Prenatal exposure to seven heavy metals (cadmium, chromium, cobalt, lead, mercury, nickel, and silver) was determined for amniotic fluid taken from 92 pregnant women undergoing amniocentesis at approximately 16 to 18 weeks&apos; gestation. Follow-up assessment of their children&apos;s cognitive skills and health status was conducted when the children were approximately 3 years of age. The presence of these metals co-occurred in amniotic fluid. A prenatal toxic risk score was derived which was a weighted score reflecting the presence of the various metals in amniotic fluid. The toxic risk score was negatively related to performance on the McCarthy Scales of Children&apos;s Abilities and positively related to the number of child illnesses reported. These results suggest the need for further prospective research on the adverse effects of prenatal exposure to various metals in combination.

Prenatal diagnosis plays a very vital role in the diagnosis of various chromosome abnormalities and helps remove the fear of having a child with a severe mental or physical disability. However, such diagnosis brings along with it several moral and ethical as well as practical considerations, some of which are highlighted.

Prenatal genome testing being used by one company and an academic medical center has triggered off a debate among scientists over the clinical value and ethical implications of the procedure. At present, federal regulation of micro-array prenatal testing is limited.