Emotional reactions in women in late pregnancy (24 weeks or longer) following the ultrasound diagnosis of a severe or lethal fetal malformation

We studied the emotional reactions of 41 women in late pregnancy shortly after they had been informed of the diagnosis of ‘severe or lethal fetal malformations’ and 3 months after delivery. In addition, situational variables were explored as determinants of grieving. While grief did not diminish during the study period, psychological instability was less pronounced at 3 months after delivery. More grief reactions were evoked by self-reported easily versus self-reported not easily initiated pregnancy, gestational age between 24 and 34 weeks versus beyond 34 weeks, multiparity versus primiparity, and viewing versus not viewing the baby.     

Prenatal exclusion of late infantile metachromatic leucodystrophy in a late-presenting pregnancy by assay of fetal leucocytes

Metachromatic leucodystrophy was excluded in a fetus at risk, by assay of fetal blood collected at fetoscopy. Isolated fetal leucocytes were shown to have activities of arylsulphatase A and cerebroside sulphatase in the heterozygous range. The prediction was confirmed in the newborn.     

Improvement of mesenteric superior artery Doppler velocimetry by amnio-infusion in fetal gastroschisis†

This study aimed to analyse the influence of amnio-infusion on superior mesenteric Doppler velocimetry and to correlate Doppler data with outcome in fetuses presenting with gastroschisis. Umbilical and intra- and extra-abdominal superior mesenteric artery Doppler velocimetry was measured prospectively before and after amnio-infusion in fetuses with gastroschisis. Doppler index values and changes were correlated with the following outcome parameters: importance of fibrous coating, duration of hospitalization in the neonatal intensive care unit, total duration of hospitalization, duration of parenteral feeding, duration of ventilatory assistance, and the interval to initiation of oral feeding. A significant improvement of diastolic flow was observed in the extra-abdominal superior mesenteric artery with amnio-infusion. No similar change was seen in the intra-abdominal superior mesenteric or in the umbilical artery. Pre-amnioinfusion extra-abdominal mesenteric Doppler index was correlated with maximal diameter of exteriorized bowel and slightly with duration of hospitalization in the neonatal intensive care unit, but no other relation between Doppler index and outcome parameter could be ascertained. Amnio-infusion induces modifications in the vascularization of exteriorized bowel in gastroschisis. This could partly explain the beneficial effect of this procedure on fetal gut. Copyright © 2001 John Wiley & Sons, Ltd.     

Funipuncture for fetocide in late termination of pregnancy

The most widely used method for fetocide in late termination of pregnancy for fetal abnormalities (TOPFA) consists of injecting of potassium chloride (KCl) into the fetal heart and is likely to be painful after 22 weeks of gestation. We studied ten consecutive women undergoing TOPFA between 22 and 38 weeks. This technique for fetocide consisted of a single umbilical vein puncture under ultrasound guidance with injections of sufentanil 5 µg followed by KCl 2 g. No electrocardiographic modifications could be observed and maternal plasma potassium levels did not show any significant variation throughout the procedure. Fetal umbilical phlebotomy for fetal analgesia followed by fetocide therefore appears to be a safe procedure for the mother and allows the fetus to die without pain when late termination of pregnancy (TOP) is indicated. Copyright © 2002 John Wiley & Sons, Ltd.     

Ultrasonography in pregnancy and fetal abnormalities: Screening or diagnostic test? IPIMC 1986–1990 register data

The aim of the present study was to assess the sensitivity of ultrasound diagnosis used as a screening test in detecting major congenital anomalies in the prenatal period in a large nation-based multicentre setting. Data from the IPIMC register were collected in the period 1986–1990. One hundred and thirty-five hospitals, located in 17 out of the 20 regions in Italy, participated in the register. Study cases were 3479 infants with major congenital anomalies diagnosed at birth or in the first week of life. Subjects with chromosomal anomalies or multiple defects were excluded. The sensitivity of ultrasound prenatal diagnosis was 49.5 per cent for central nervous system anomalies, 3.8 per cent for congenital heart diseases, 17.1 per cent for gastrointestinal tract defects, 46.6 per cent for abdominal wall defects, 74.8 per cent for urinary tract anomalies, and 22.9 per cent for skeletal abnormalities. The detection rate for diaphragmatic hernia was 24.2 per cent. Overall, only 18 per cent of the defects diagnosed in utero were detected before 24 weeks' gestation. The sensitivity of prenatal diagnosis was 30.1 and 19.0 per cent in the northern, central, and southern regions, respectively. In light of its low sensitivity, ultrasonography as a screening test in the general population should be abandoned, although some improvement in its performance should be expected following adequate training of the ultrasound staff and the use of good technical equipment.     

Low-dose sulprostone for pregnancy termination in cases of fetal abnormality

Thirty-two pregnancies (11 primi- and 21 multi-gravid) with an abnormal fetus were terminated between 16 and 35 weeks (mean 22 weeks; median 20 weeks) and a continuous intravenous infusion of 1 μg of the prostaglandin analogue sulprostone. All pregnancies were terminated vaginally, 31 of them with this regimen in a median induction-expulsion interval of 23 h (range 8–52 h). Complete expulsion of the placenta occurred in 72 per cent of cases. Median blood loss was 100 ml (range 20–2000 ml). There were only a few side-effects. We conclude that this induction regimen is both appropriate and safe for pregnancy termination in cases of fetal anomaly.     

Parental reaction and adaptability to the prenatal diagnosis of fetal defect or genetic disease leading to pregnancy interruption

The objective of the study was to evaluate the psychological reaction of two groups of parents to a pregnancy termination after they had undergone a prenatal diagnostic procedure. The analysis involved interviews with a study group of 76 patients who were at risk of giving birth to a child with a genetic disease or defect and a comparison group of 124 who had a pregnancy termination after a major anomaly had been detected by routine ultrasound and who were not at known risk for a genetic disease. Only patients in the study group had received counselling before the prenatal diagnosis and were aware that the fetus could be affected. The overall reaction of the comparison group was one of shock, denial of fetal abnormality, and guilt over ‘abandoning the fetus’. A feeling of guilt was expressed by patients in the comparison group (73 per cent versus 29 per cent) in the period immediately following the interruption. One-third of patients in both groups felt obliged to undergo a therapeutic abortion. More patients in the study group than in the comparison group expressed the need to see a psychiatrist at the time of the study (19 per cent versus 7 per cent) and viewed future pregnancies as a replacement for the lost pregnancy (63 per cent versus 19 per cent). The recommendations of the study focus on information sessions to personnel, nursing support, analgesia during the expulsion period, an atmosphere of respect that should be present at the time that the fetus is viewed, the anticipation of mourning, and the long-term follow-up of the couple to ensure that counselling for future pregnancies and psychological support are provided when needed.     

Apolipoproteins in human fetal blood and amniotic fluid in mid-trimester pregnancy

To examine the potential for prenatal diagnosis of genetic lipoprotein metabolic defects (e.g. abetalipoproteinemia, Tangier disease) we determined the normal concentrations of apolipoproteins (apo) A-I, A-II, B, and E in mid-trimester amniotic fluid and fetal plasma. The concentrations of apo A-I and apo A-II in amniotic fluid were 1−2 per cent of the respective levels in the mother's plasma, whereas apo B and apo E were undetectable in amniotic fluid. In contrast to amniotic fluid, all four apolipoproteins were detectable in fetal plasma, and the levels of apo A-I, apo B and apo E were in the range observed in the mothers: 160·2 ± 103·1, 59·8 ± 35·7 and 5·7 ± 3·5 mg/dl respectively (mean ± SD, n=13). The fetal plasma level of apo A-II (28·3 ± 12·4 mg/dl) was two-thirds that observed in the mother's plasma. The normal levels of these apolipoproteins in fetal plasma are well above the sensitivity of the methods, and their quantification requires only 10−20 μl of fetal plasma. Determination of apolipoproteins in fetal blood obtained by fetoscopy thus may provide a method for the prenatal diagnosis of congenital apolipoprotein deficiences.     

The role of DNA microarrays in the evaluation of fetal death

Fetal death occurs in 15% of clinically recognized pregnancies. Cytogenetic abnormalities are present in 50% of spontaneous abortions (fetal deaths < 20 weeks) whereas the rate is 6% to 13% for stillbirths (fetal deaths ≥ 20 weeks). Microarray has been demonstrated to increase the diagnosis of genetic abnormalities by providing coverage of the entire genome at a higher density, detecting as small as 50 to 100 kb deletions or duplications, known as copy number changes. Microarray is particularly suited for evaluation of fetal death because DNA can still be analyzed in macerated fetuses and nonviable tissue, two situations where culturing and karyotyping is known to have low yield. Microarray has already proven successful in providing additional genetic information beyond karyotype in spontaneous abortion. The few studies on the use of microarray in stillbirth evaluation have been promising, demonstrating an increase in the diagnosis of clinically relevant genetic abnormalities when compared with karyotype. As the cost and technology improve, microarray may ultimately become the first line screen for genetic abnormalities in stillbirth. The accurate diagnosis of a genetic abnormality as the cause for fetal death may provide closure for families, prevent unnecessary treatments, and enable clinicians to more accurately counsel and manage subsequent pregnancies. © 2012 John Wiley & Sons, Ltd.     

Induction of fetal lung maturation with intra-amniotic thyroxine in multiple pregnancy

Two premature triplet pregnancies underwent repeated treatment aimed at acceleration of individual fetal lung maturity while administering intravenous tocolytic treatment. From the early third trimester, repeated amniocenteses were used for intra-amniotic administration of thyroxine to each sac, while the individual fetal lung maturation rate was determined by surfactant microviscosity until lung maturity was achieved.