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W T Hsu,
D A Shchepin,
R Mao,
E Berry-Kravis,
A P Garber,
N Fischel-Ghodsian,
R E Falk,
D E Carlson,
E R Roeder,
E A Leeth,
M J Hajianpour,
J C Wang,
L S Rosenblum-Vos,
S D Bhatt,
E M Karson,
C H Hux, C Trunca,
M G Bialer,
S K Linn,
R R Schreck
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ABSTRACT: Trisomy 16, once thought to result uniformly in early pregnancy loss, has been detected in chorionic villus samples (CVS) from on-going pregnancies and was initially ascribed to a second, nonviable pregnancy. Prenatally detected trisomy 16 in CVS and its resolution to disomy has led to the reexamination of the viability of trisomy 16. This study evaluates 11 cases of mosaic trisomy 16 detected through second trimester amniocentesis. In 9 of the 11 cases, amniocenteses were performed in women under the age of 35 because of abnormal levels of maternal serum alpha-fetoprotein (MSAFP) or maternal serum human chorionic gonadotropin (MShCG). The other two amniocenteses were performed for advanced maternal age. Five of the 11 pregnancies resulted in liveborn infants, and six pregnancies were electively terminated. The liveborn infants all had some combination of intrauterine growth retardation (IUGR), congenital heart defects (CHD), or minor anomalies. Two of them died neonatally because of complications of severe congenital heart defects. The three surviving children have variable growth retardation, developmental delay, congenital anomalies, and/or minor anomalies. In the terminated pregnancies, the four fetuses evaluated by ultrasound or autopsy demonstrated various congenital anomalies and/or IUGR. Cytogenetic and fluorescent in situ hybridization studies identified true mosaicism in 5 of 10 cases examined, although the abnormal cell line was never seen in more than 1% of cultured lymphocytes. Placental mosaicism was seen in all placentas examined and was associated with IUGR in four of seven cases. Maternal uniparental disomy was identified in three cases. Mosaic trisomy 16 detected through amniocentesis is not a benign finding but associated with a high risk of abnormal outcome, most commonly IUGR, CHD, developmental delay, and minor anomalies. The various outcomes may reflect the diversity of mechanisms involved in the resolution of this abnormality. As 80% of these patients were ascertained because of the presence of abnormal levels of MSAFP or MShCG, the increased use of maternal serum screening should bring more such cases to clinical attention.
American Journal of Medical Genetics 01/1999; 80(5):473-80.
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ABSTRACT: Growth disturbance in the trisomic fetus is believed to be primarily fetal in origin. There has been only sparse description of placental pathology in the third trimester in these fetuses, and therefore the placental role in their growth and development remains unexplored. We performed quantitative morphometric analysis on the placentas of 18 fetuses with trisomy and ten normal control fetuses. Doppler umbilical artery analysis was performed on ten abnormal fetuses and all controls. The placentas of trisomic fetuses exhibited a significant reduction in small muscular artery count and small muscular artery/villus ratio. Abnormal Doppler waveforms correlated closely with reduced small muscular artery counts. Undervascularization and increased vascular resistance of the placenta of trisomic fetuses may contribute to diminished fetal growth. The placenta appears to be another fetal organ whose structure and function are affected adversely by abnormal karyotype.
Obstetrics and Gynecology 02/1990; 75(1):59-63. · 4.73 Impact Factor
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Birth defects original article series 02/1987; 23(1):401-10.
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ABSTRACT: A rapid in situ coverslip technique was used to diagnose trisomy 18 within 1 week of amniocentesis in the third trimester. Two cases are presented. The clinical significance and advantages over umbilical vein aspiration are discussed.
American Journal of Obstetrics and Gynecology 11/1986; 155(4):835-6. · 3.47 Impact Factor
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ABSTRACT: Congenital Finnish nephrosis is a rare autosomal-recessive disorder, usually fatal at an early age. The disease is prenatally detected through elevation of alpha fetoprotein in the amniotic fluid of pregnancies at risk. This originates from fetal proteinuria. Maternal serum alpha fetoprotein reflects amniotic fluid levels. We describe a case of congenital nephrosis diagnosed through maternal serum screening in a low-risk population. The characteristic histology of congenital nephrosis is demonstrated, and evidence of proteinuria by electron microscopy, light microscopy, and immunofluorescence is presented.
Pediatric pathology / affiliated with the International Paediatric Pathology Association 02/1985; 3(2-4):271-81.
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American journal of diseases of children (1960) 01/1981; 134(12):1171-2.
