Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

Background: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT. Methods: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire. The qualitative data gathered from the questionnaire were analyzed using the N-Vivo software package. Results: Environmental factors, genetic counseling-related factors, and increased anticipatory anxiety, affected the feeling of ambivalence among pregnant women. Furthermore, pregnant women desired more information regarding the detailed prognosis for individuals with Down syndrome and living with them and/or termination, assuming the possibility that they were positive. Conclusions: Three major interrelated factors affected the feeling of ambivalence in women. Highlighting and discussing such factors during genetic counseling may resolve some of these ambivalences, thereby enhancing the quality of decisions made by pregnant women

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not unique to HPP, such as shortening, bowing and angulation of the long bones, and slender, poorly ossified ribs and metaphyseal lucencies. Conversely, absent ossification of whole bones is characteristic of severe lethal HPP and is associated with very few other conditions. Certain features may help distinguish HPP from other skeletal dysplasias, such as sites of angulation of long bones, patterns of hypomineralization, and metaphyseal characteristics. In utero recognition of HPP allows for the assembly and preparation of a multidisciplinary care team before delivery and provides additional time to devise treatment strategies

A Case of Monochorionic-Triamniotic Triplet Pregnancy with TRAP Sequence Successfully Treated with Radiofrequency Ablation with a Parallel Circuit Consisting of Anastomosed Blood Vessels between the Direct Pump Fetus and the Indirect Pump Fetus

Monochorionic-triamniotic triplet pregnancy with twin reversed arterial perfusion (TRAP) sequence is one of the rare complications of multiple pregnancy and has been reported by only a few. Here, we report a case of monochorionic-triamniotic triplet pregnancy with TRAP sequence successfully treated with radiofrequency ablation, which did not develop polyhydramnios and heart failure although the estimated weight of the acardiac fetus increased twice as much as that of the direct pump fetus. Interestingly, the anastomosed blood vessels between the direct and indirect pump fetuses comprised a parallel circuit, which provided blood flow to the acardiac fetus. We hypothesized that the burden on the pump fetus in monochorionic pregnancy with TRAP sequence would be different between triplet and twin pregnancies

Successful Management of the Fetal Severe Anemia Associated with Jra Alloimmunization by Intrauterine Transfusion of Jr(a+) Red Blood Cells

Objective. We present a case of fetal severe anemia associated with Jra alloimmunization, which was managed using Doppler measurement of the peak systolic velocity of the fetal middle cerebral artery (MCA-PSV) and intrauterine transfusion (IUT) of Jr(a+) red blood cells (RBCs). We also review the previous case reports on fetal or neonatal anemia associated with Jra alloimmunization. Case Report. A woman with Jra alloimmunization was referred to our department at 29 weeks of gestation. As fetal MCA-PSV exceeded 1.55 multiples of the median, fetal blood sampling was performed and demonstrated severe anemia. During the course, a total of two IUTs were performed using Jr(a+) RBCs. The neonate was delivered by repeated cesarean section at 35 weeks of gestation and showed no apparent signs of hemolysis. Conclusion. Based on the literature review, fetal anemia associated with Jra alloimmunization becomes severe during mid-gestation and may not develop during late gestation. The severity of fetal anemia is predicted by MCA-PSV Doppler assessment rather than the maternal anti-Jra titers. Timely IUT of Jr(a+) RBCs can help to prolong the pregnancy to term in emergency situations wherein compatible blood of Jr(a-) RBCs is not available soon

A systematic review of massive transfusion protocol in obstetrics

Post-partum obstetric haemorrhage is a leading cause of mortality among Japanese women, generally treated with haemostatic measures followed by supplementary transfusion. Commonly used in the setting of severe trauma, massive transfusion protocols (MTPs), preparations of red blood cell concentrate (RBC) and fresh frozen plasma (FFP) with additional supplements, have proved effective in decreasing patient mortality following major obstetric bleeding events. Although promising, the optimal configuration of RBC and FFP utilized for obstetric bleeding needs to be verified. Here, we conducted a systematic literature review to define the optimal ratio of RBC to FFP for transfusion therapy during instances of obstetric bleeding. Our analysis extracted four retrospective, observational studies, all demonstrating that an FFP/RBC ratio of ≥1 was associated with improved patient outcomes following obstetric haemorrhage. We therefore conclude that, from the standpoint of haemostatic resuscitation, an FFP/RBC ratio of ≥1 is a necessary condition for optimal clinical management during MTP administration in the field of obstetrics. Hence, we further propose an optimized MTP strategy to be utilized in the setting of severe obstetric bleeding