A. Pachi

Describing and interpreting 24-hour blood pressure patterns in physiologic pregnancy

The time course of blood pressure in clinically healthy (pregnant and nonpregnant) women was followed by automatic ambulatory monitoring. Chronobiologic methods revealed the time course of dynamic rhythm characteristics as a function of gestational age. Differences were found between nonpregnant and pregnant women with an overall lowering during pregnancy of the rhythm-adjusted midline estimating statistic of rhythm (mesor).

Lack of association between genetic variants in the mannose-binding lectin 2 (MBL2) gene and HPV infection

Genetic variants in the immunomodulatory gene mannose-binding lectin 2 (MBL2), were associated with risk, severity, and frequency of viral infections. In a case-control setting, we investigated the association of MBL2 functional polymorphisms with Human Papillomas Virus (HPV) infection. No differences between cases (HPV+) and controls (HPV−) were found in the distribution of each single genotypes or allele. Haplotype analysis did not show any difference between HPV+ and HPV− groups.

Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia

Prenatal diagnosis for familial hypercholesterolaemia (FH) was performed by using restriction fragment length polymorphisms (RFLPs) of the LDL receptor gene on chorionic villi DNA taken during the 10th week of pregnancy. Both parents were FH heterozygotes and had previously had a healthy son and an FH homozygous son. Two RFLPs were informative in this family and revealed that the fetus was unaffected by FH. At birth the child was found to have an LDL cholesterol level of 30 mg/dl and a normal LDL receptor activity in cultured umbilical cord fibroblasts. RFLP analysis on chorionic villi DNA is highly recommended for all heterozygous FH couples in whom the LDL receptor gene mutation/s is/are still to be characterized.

Gestational Blood Pressure Monitoring and its Chronobiometric Quantification

Blood pressure (BP) monitoring is a clinical reality because of the availability of non-invasive automated recorders. BP 24-h patterns were explored during physiologic pregnancies in order to obtain time-qualified standards for clinical use. Non-inferential and inferential reference boundaries were computed by using chronobiometric procedures. The computed confidence limits provide a set of reference standards that serves to optimize the diagnosis of pregnancy-induced deviation in BP 24-h patterns.

Cholinesterase evaluation in the prenatal diagnosis of open neural tube defects

Summaryα-fetoprotein (AFP) and cholinesterase levels in amniotic fluid were determined and the efficiency of these laboratory tests in the prenatal diagnosis of neural tube defects was examined. Using the AFP test with cut-off levels correlated to gestational age, we have detected 8 cases of neural tube defects and one case of abdominal wall defect in about 1,200 pregnancies; false-negative values were absent. Acetylcholinesterase (AChE) and butyrylcholinesterase activities were measured and the electrophoretic pattern of AChE was examined in 100 amniotic fluid samples. The diagnosis of neural tube defects was always confirmed. There were no diagnostic problems due to blood-contaminated amniotic fluid samples. The results obtained using different quantitative methods for the determination of cholinesterase activity, as well as the potential use of these tests in routine examinations, are discussed.

Hydroxyproline and creatinine levels in normal amniotic fluid

SummaryTotal hydroxyproline and creatinine concentrations as well as their ratios were determined in 29 amniotic fluid samples from normal pregnancies between the 16th and 20th week of gestation. Total hydroxyproline and creatinine levels, and their ratios, were not statistically different considering either the values at each week or those of the whole 5-week period. Our results, compared with the few others reported in the literature, can provide indications useful for defining the normal range in amniotic fluid, in relation to the weeks of gestation.

Umbilical artery blood flow in pregnancies complicated by insulin-dependent diabetes mellitus

SummaryDuring the third trimester of pregnancy umbilical artery pulsatility index was measured in 30 insulin dependent diabetic women, classes B to R, according to the White (1978) classification. A mean capillary glucose value > 6.1 mmol/1 (110 mg/dl) was selected to indicate poor glucose control. The patients were divided into three groups (10 patients in each) based on mean capillary blood glucose: group I, 7.2 mmol/1 (130 mg/dl). Each patient had one measurement of the umbilical artery pulsatility index at 31 weeks and one at 34 weeks. No Doppler measurements were outside the normal range in group I and III. Sixteen measurements (80 per cent) were more than 1 s.d. above the mean in group II. No differences were found between mean pulsatility indices in controls, in group I and in group III. The mean pulsatility index in group II was greater than that in controls (P < 0.01) and that in group I (P < 0.01) and group III (P < 0.01).

Antenatal diagnosis of fetal skeletal malformations in ‘at risk' cases

SummarySkeletal malformations affect one out of every 500 newborn babies in Italy. Genetic counselling enables identification of women at risk for these abnormalities, and ultrasound scanning permits prenatal diagnosis. Of 49 patients studied between October 1984 and June 1988, 29 women had a greater risk of fetal skeletal abnormalities than that in the general population. With ultrasound scanning, no false positive diagnoses were made. In four women at increased risk, pathological features were found in utero by ultrasound and in two women the diagnosis was missed and made after birth. One of these was a case of hypophosphataemic rickets, diagnosed by X-ray at 10 months of age; the other was monitored for cleft lip and palate, but a cleft lip was found only at birth.