Screening for trisomy 21 by maternal age fetal nuchal translucency thickness and maternal serum sample.

AIM: The aim of this paper was to examine the performance of two-stage first-trimester combined screening based on maternal age, fetal nuchal translucency (NT) thickness and maternal serum sample "free beta-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A)". METHODS: A combined screening for chromosomal anomalies was performed in 713 singleton pregnancies. We performed a two-stage screening with the blood taken at 8+0 to 10+6 weeks and the measurement of NT performed at 12+0 to 12+6 weeks. The maternal age related risk for trisomy 21 was calculated and adjusted according to the gestational age at the time of screening to derive the a-priori risk. The measured free beta-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) were converted into a multiple of the median (MoM) for gestational age, adjusted for maternal weight, smoking status, ethnicity, method of conception (spontaneous or IVF) and parity. The measured NT was assessed in relationship of mesasure of CRL. Finally, the risk resulting by NT thickness and biochemical markers were multiplied by the a-priori risk to derive the patient-specific risk. RESULTS: The ultrascreen was considered positive in the case where the risk was greater than 1:250. In this case it was suggested the study of the fetal karyotype through an invasive test. In our study we had 23 positive cases after the combined screening: all patients have opted for the study of fetal karyotype, and in 5 cases the result was abnormal (trisomy 21). We had 1 case where the test was negative but the fetal karyotype was abnormal (trisomy 21). We have calculated sensitivity and false positive rate of the test. CONCLUSION: In our study there were 707 cases with a normal karyotype or delivery of a phenotypically normal baby and 6 cases with trisomy 21. The detection rate of the first trimester screening for chromosomal anomalies was 83% with a false positive rate of 3,2%. The aim of the study was estimated the performance of two-step strategy screening. In our study, the performance of the screening model, based on the two-stage, was not higher than the performance of screening based on a single-step reported in literature. In our opinion, there is no potential advantage in terms of detection rate.

The importance of Doppler ultrasonography in the management of fetal growth restriction.

AIM: To evaluate the importance of Doppler ultrasonography in fetuses in the management of fetal growth restriction (FGR). METHODS: Sixty-five pregnant women, aged between 23 to 39 years and from 27 to 37 weeks of pregnancy were selected; they all carried a single fetus showing a diminished growth curve in respect to the previous echographic examinations. Women affected with diabetes types I and II, renal pathologies and/or past endocrinopathies were excluded. All the patients with fetal growth restriction underwent accurate flussimetric mapping of some fetal districts such as umbilical artery and ductus venosus. Modalities of birth and the neonatal outcome were also considered. RESULTS: The patients selected were divided into 4 groups according to the velocimetrical data. The neonatal outcome was positive when the end diastolic flow was present in the umbilical artery associated with a normal flow in the ductus venosus. In cases where the end diastolic flow was absent in the umbilical artery, the management and neonatal outcome varied in relation to the morphology of the flow in the ductus venosus: the absence or reverse A phase of the mentioned flow is often indicative of acute fetal distress and unfavourable prognosis. Reverse end diastolic flow in the umbilical artery was always associated with the intrauterine death of the fetus. CONCLUSIONS: Our results confirm the validity of Doppler ultrasonography in the management and in the choice of timing for birth in cases of fetal growth restriction.

The utility of fetal urine biochemistry in the management of lower urinary tract obstructions. A report of 3 cases.

The aim of this study is to implement the use of biochemical parameters in the analysis of fetal urine to assist with decision making for surgical intervention for fetal obstructive uropathy. Three patients were selected over a 6 month period following ultrasound diagnosis of megabladder and oligohydramnios. Amniocentesis and cystocentesis were performed for karyotyping and biochemical urinary electrolyte evaluation, respectively. Fetal urine biochemistry assisted in decision making with regard to patient and fetal well being. In each of the cases the parameter cutoffs were diagnostic of fetal condition. While the long term benefits of fetal intervention for obstructive uropathy are still debated, we feel that the use of urine biochemical criterIa provide the best current method to select the subjects to be submitted to vesicoamniotic shunt centres.

Wrongful life: a misconceived tort.

Recent advances in prenatal genetic counseling have expanded the scope of malpractice liability. Parents and children have both brought tort actions for negligent prenatal genetic counseling. The child's "wrongful life" claim is a unique and difficult moral and legal issue. This comment examines wrongful life and the parents' "wrongful birth" action, and suggests a model of recovery for wrongful birth that avoids the insoluble problems inherent in a wrongful life claim while providing for the needs of the disabled child.