RESUMO
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral agenesis has recently been mapped to the 7q36 region. This case provides further evidence for a sacral agenesis locus in this region and may help to refine the critical region further.
Assuntos
Cromossomos Humanos Par 7 , Doenças Fetais/genética , Monossomia , Sacro/anormalidades , Feminino , Retardo do Crescimento Fetal/genética , Humanos , Gravidez , Diagnóstico Pré-Natal , Translocação GenéticaRESUMO
Ectrodactyly is a rare condition characterized by absence of digits, ranging from single absence of a finger to the split hand/foot deformity. This anomaly has been reported as sporadic and in association with a number of genetic and non-genetic syndromes, such as the autosomal dominant ectrodactyly and the ectrodactyly-ectodermal dysplasia-cleft palate (EEC) syndromes. In this report we present two cases of ectrodactyly prenatally diagnosed by ultrasonography during the second trimester of pregnancy. Routine examination of fetal hands and feet during second-trimester ultrasonography should make the detection of hand and foot malformations more frequent.
Assuntos
Anormalidades Múltiplas/patologia , Dedos/anormalidades , Resultado da Gravidez , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/diagnóstico por imagem , Aborto Terapêutico , Adulto , Amniocentese , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/patologia , Humanos , Cariotipagem , Gravidez , Segundo Trimestre da Gravidez , Gravidez Múltipla , GêmeosRESUMO
Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition.
Assuntos
Disostoses/genética , Cardiopatias Congênitas/genética , Doenças da Coluna Vertebral/genética , Aborto Induzido , Adulto , Disostoses/complicações , Disostoses/embriologia , Feminino , Feto , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/embriologia , Humanos , Gravidez , Doenças da Coluna Vertebral/complicações , Doenças da Coluna Vertebral/embriologiaRESUMO
OBJECTIVE: To relate the T/QRS ratio of the fetal electrocardiogram (ECG) to the cardiotocogram (CTG) and fetal pH during labour. DESIGN: Prospective data collection from selected monitored labours. SETTING: A postgraduate teaching hospital delivery suite. SUBJECTS: 113 women in labour at term. MAIN OUTCOME MEASURES: Correlation of fetal T/QRS ratio values with pH values at the time of fetal blood sampling and at birth (umbilical artery blood). Comparison of the predictive values of raised T/QRS ratio and a pathological CTG for fetal acidemia. RESULTS: Complete data sufficient for analysis was available for 51 fetal scalp blood samples and 93 umbilical artery pH samples. The median (range) of T/QRS ratio values before birth of 88 babies not requiring admission to the neonatal unit was 0.13 (0.00-0.32) with a 97.5th centile value of 0.28. T/QRS ratios did not correlate with fetal scalp pH values. Fetal scalp acidaemia (pH less than 7.20) was detected with rates of 50 and 13% respectively by a pathological CTG and by a T/QRS ratio above 0.28, the positive predictive values being 40% and 50%, respectively. There was a significant correlation between increasing T/QRS ratio and falling pH. Detection rates (sensitivities) for umbilical artery acidaemia (pH less than 7.12) were 76% and 29% whereas positive predictive values were 38% and 71% respectively for a pathological CTG and a T/QRS ratio above 0.28. CONCLUSION: A raised T/QRS ratio (greater than 0.28) had a considerably lower detection rate for fetal acidaemia during labour than a pathological CTG.