Prenatal diagnostic options in cystic fibrosis

There are currently two diagnostic options in cystic fibrosis. These involve assays for certain microvillar enzyme activities in amniotic fluid and recombinant deoxyribonucleic acid studies of markers linked to the cystic fibrosis gene on chromosome 7. The former are reduced in cystic fibrosis homozygotes; the latter make it possible to determine the particular pattern of chromosome 7 markers predictive of a cystic fibrosis homozygote in a specific family. However, neither test is appropriate for, applicable to, or informative in all families. The problems and potential of each approach are discussed.     

Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities

Crouzon syndrome is a cranio-facial dysostosis with autosomal dominant transmission and a birth prevalence of 16.5 per million newborns. Up till now there is no publications in polish medical journals about ultrasonic diagnosis of Crouzon syndrome or of any other craniostenosis. The development of ultrasonography, three-dimensional ultrasonography and in the last years also MRI, allows earlier detection and diagnosis of fetal malformation and enables precise evaluation of his anatomy. The aim of the study is presentatoin Crouzon syndrom diagnosed prenatally by ultrasonography and confirmed moleculary by DNA analysis. We would like to stress the diagnostic problems and the difficult decisions that we encountered.     

Prenatal diagnostic criteria for body stalk anomaly

Body stalk anomaly results in a severe body wall defect, maldevelopment of the hindgut, and the presence of a very rudimentary umbilical cord. A case of prenatally diagnosed body stalk anomaly is presented along with the discussion of the essential diagnostic criteria.     

Prenatal diagnostic procedure for leukocyte adhesion deficiency.

Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder which leads to recurrent severe infections due to impaired leukocyte functions. The disorder is caused by an absence or deficiency of leukocyte cell adhesion molecules (LeuCAMs) on the leukocyte membranes. The diagnosis is established with monoclonal antibodies against the LeuCAMs. We have carried out a prenatal diagnostic procedure by means of cordocentesis in a mother who was 20 weeks pregnant and had previously given birth to a child with LAD. This previous child had the severe form of LAD with undetectable mRNA for the beta chain, the common subunit of the LeuCAMs. We found that the fetal granulocytes expressed the LeuCAMs normally. At birth, the baby was physically normal and showed no signs of impaired leukocyte functions.     

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

OBJECTIVE: To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. DESIGN: Analysis of data from population-based registries of CM. SUBJECTS: 25 400 cases of CM recorded by 14 EUROCAT registries covering a total population of 1,013,352 births 1995-99. RESULTS: US were performed in 91% of cases, and positively detected CM in 35% of cases. AC was performed in 24% of the cases and CVS in 3% of cases. Thirty-eight percent of invasive tests gave positive results. Fifty-two percent of cases with maternal age > or = 35 years had an invasive test performed compared to 20% of cases with younger mothers.Considerable variation was found between registries in the uptake rate of invasive tests in cases with older maternal age and on the use of invasive tests with only four regions employing CVS techniques in at least a third of the cases having invasive tests. For chromosomal anomalies US gave positive results in 46% of cases with maternal age < 35 years with US performed and in 36% of cases with maternal age > or = 35 years with US performed. CONCLUSION: Prenatal US was performed in 91% of all pregnancies with CM but the test was only positive in a third of the cases. There was large regional variation in the uptake rate of invasive tests with maternal age of 35 years or more. For every CVS carried out there were nine AC tests. US is an important tool in the prenatal diagnosis of chromosomal anomalies in Europe.     

Prenatal diagnostic rates and postnatal outcomes of fetal orofacial clefts in a Taiwanese population

Objective

To report the incidence, prenatal diagnostic rate, and postnatal outcomes of fetal orofacial cleft at a tertiary referral center in Taiwan.

Methods

The demographic data, maternal and fetal characteristics, and postnatal outcomes for fetuses with cleft lip and/or cleft palate (CL/P) born between January 1998 and December 2008 at Chang Gung Memorial Hospital, Taipei, were reviewed retrospectively, and diagnostic rates were evaluated according to cleft type.

Results

Among 26 499 deliveries, 84 were affected with CL/P. The mean maternal age and gestational age at detection of CL/P were 30.37 years (range 21-41 years) and 24.7 weeks (range 18-33 weeks), respectively. Thirty-one fetuses had associated structural anomalies, 5 of which involved chromosomal aberrations. CL/P was diagnosed prenatally for 74 (88%) fetuses. After consultations, 17 pregnancies (20%) were aborted. The postnatal survival rate was 95.5% (64/67 infants). The type of cleft had a significant influence on correct prenatal diagnosis (P < 0.001).

Conclusion

For fetuses diagnosed prenatally with an orofacial cleft, access to an experienced craniofacial team, well-planned delivery, and pediatric intensive care led to favorable postnatal outcomes after lethal malformations were excluded through detailed sonographic and chromosomal evaluations.     

Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities

Thanatophoric dysplasia is the most common type of neonatal lethal osteochondrodysplasias, with an estimated frequency of nearly of 1 in 20,000 births. It is a disorder characterized by extremely short ribs, tubular bones and macrocephaly. The prenatal diagnosis of thanatophoric dysplasia has been well established by ultrasonography in the second trimester; however it is not always possible to differentiate the thanatophoric dysplasia fetuses from the others with skeletal dysplasias like fibrochondrogenesis or atelosteogenesis by ultrasonography. Recently, mutations in the fibroblast growth factor receptor 3 gene, located on the short arm of chromosome 4 have been identified as a cause of thanatophoric dysplasia. In this article we described the prenatal diagnosis of two fetuses with thanatophoric dysplasia at 18 and 24 weeks of gestation by ultrasonography. Postpartum radiological and histological analysis confirmed our prenatal diagnosis. Our purpose was to remind the differential prenatal diagnosis with other skeletal dysplasias and new prenatal diagnostic modalities.     

Prenatal diagnosis of chromosomal aberrations in the second trimester of pregnancy--analysis of problems and diagnostic difficulties

Laboratory problems and diagnostic difficulties are analysed in 1135 prenatal cytogenetic examinations of amniotic fluid cells in the Genetics Laboratory of the Mother and Child Institute. The effectiveness and the reliability of the method for the purposes of prenatal diagnosis of chromosomal aberrations were evaluated. They were comparable to those reported from other similar centres in the world.     

Prenatal diagnosis of congenital toxoplasmosis: a multicenter evaluation of different diagnostic parameters.

OBJECTIVE: Our purpose was to evaluate different methods of diagnosing congenital toxoplasmosis prenatally by amniocentesis and cordocentesis. STUDY DESIGN: In a retrospective multicenter study, we investigated consecutive women who had seroconversion for Toxoplasma gondii during pregnancy and who underwent either amniocentesis or cordocentesis or both to obtain a prenatal diagnosis of fetal toxoplasmosis. Data were obtained from 122 patients recruited in 6 different European Toxoplasma reference centers. Infants born to these mothers were followed up until 1 year of age to confirm or exclude congenital toxoplasmosis. Sensitivity, specificity, positive predictive value, and negative predictive value were measured for the following parameters: (1) detection of the parasite in amniotic fluid by mouse inoculation, (2) detection of the parasite in amniotic fluid by in vitro cell culture, (3) detection of Toxoplasma deoxyribonucleic acid in amniotic fluid by a polymerase chain reaction assay, (4) detection of the parasite in fetal blood by mouse inoculation, (5) detection of specific immunoglobulin M antibodies in fetal blood, and (6) detection of specific immunoglobulin A antibodies in fetal blood. RESULTS: The polymerase chain reaction test performed on amniotic fluid had the highest level of sensitivity (81%) and also a high level of specificity (96%). The combination of the polymerase chain reaction test and mouse inoculation of amniotic fluid increased sensitivity to 91%. The sensitivity of immunoglobulins M and A in fetal blood was 47% and 38%, respectively. In congenitally infected fetuses a negative correlation was observed between positive serologic parameters and gestational age at the time of maternal infection and at prenatal diagnosis. CONCLUSION: Congenital toxoplasmosis is best predicted by prenatal examination with the combination of T gondii polymerase chain reaction and mouse inoculation of amniotic fluid. The role of cordocentesis in the diagnosis of congenital toxoplasmosis is limited.     

Factors affecting pregnant women's decisions regarding prenatal pertussis vaccination: A decision-making study in the nationwide Prenatal Pertussis Immunization Program in Taiwan

ObjectiveTo examine the factors affecting pregnant women's decisions to accept or decline the prenatal pertussis (Tdap) vaccination in Taiwan.Materials and methodsWe conducted a cross-sectional survey, recruiting pregnant women who had received prenatal care from eight maternity hospitals between January and December 2018. We examined the participants’ demographic characteristics, perceptions of pertussis disease risk and vaccination effectiveness, beliefs regarding vaccine information, physician recommendation, and other potential factors affecting decision-making regarding prenatal vaccination.ResultsThe complete survey response rate among eligible women was 78%. Among the participants, 74% accepted and 26% declined prenatal Tdap vaccination. Most women accepted Tdap during pregnancy because of perceived severity of pertussis in their infants, perceived effectiveness of the prenatal Tdap in preventing neonatal pertussis, and perceived safety of the prenatal Tdap vaccine for the fetus, as well as a provider's recommendation, which was the factor strongly associated with actual Tdap reception. Most of the participants who accepted Tdap vaccination during pregnancy and who believed that the Tdap vaccine could protect their infants from pertussis reported the receiving sufficient information to make an informed decision and trust in the information. By contrast, a large proportion of the participants who declined Tdap and who did not want to experience possible fetal side effects of Tdap reported not getting sufficient information to make an informed decision and a lack of trust in the information.ConclusionDeveloping a comprehensive strategy involving government policy, the health care system, public media, health professionals, and pregnant women to launch a successful campaign may improve the nationwide acceptance of the prenatal pertussis vaccination.     

Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies

The purpose of this study was to determine whether continuing experience in prenatal diagnosis of conotruncal malformations (CTMs) has resulted in improved diagnostic accuracy and outcome. Previous reports have demonstrated particular difficulty with ascertainment of the spatial relationship of the great arteries in patients with CTM. The prognosis for fetuses with CTM was poor. Medical records of 113 consecutive fetuses in whom a CTM (tetralogy of Fallot [TOF], double-outlet right ventricle [DORV], type B aortic arch interruption, transposition of the great arteries [TGA], and persistent truncus arteriosus [TA]) was diagnosed antenatally between 1994 and 2003 were reviewed. The diagnosis of the 91 fetuses with CTM included TOF (n = 32), TGA (n = 29), DORV (n = 22), and TA (n = 8). The great arterial spatial relationship was diagnosed accurately in 84 of the 91 (92%) live-born infants. In the other seven infants with DORV, the great arterial spatial relationship was identified inaccurately. The overall survival to 30 days was 85 of 91 (93%). Twenty-three of 91 (25%) patients had extracardiac anomalies. Genetic diagnosis (amniocentesis) was obtained in 63 of 94 patients; 11 (17%) had chromosomal abnormalities. Maternal glucose tolerance results were obtained in 65 of the 91 patients and were abnormal in 25 of 65 (38%). Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis.     

Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: A systematic review and meta-analysis of diagnostic studies

Background.?Fetuses with congenital diaphragmatic hernia (CDH) are at risk of death from pulmonary hypoplasia at birth.

Objective.?To determine the value of prenatal imaging parameters for predicting lethal pulmonary hypoplasia in fetuses with CDH.

Search strategy.?Relevant papers were identified by searching MEDLINE (1966–2008), EMBASE (1988–2008) and the Cochrane Library (2008 issue 3).

Selection criteria.?Selected studies examined diagnostic tests for the prenatal prediction of lethal pulmonary hypoplasia in fetuses with CDH. The primary outcome measure was perinatal survival.

Results. Twenty-one studies fulfilled the entry criteria, of which six examined entirely unique heterogeneous parameters and the remaining 15 examined lung–head ratios (LHR) and/or the presence of liver in the fetal thorax. The strongest association was that of LHR?≥?0.6 compared to?<0.6 (OR: 17.02; 95% CI: 2.10–137.89), although more clinically relevant was that of LHR?>1.0 (OR: 5.07; 95% CI: 2.94–8.74). The finding of liver in the fetal chest was a poor prognostic feature (survival OR: 0.32; 95% CI: 0.21–0.49).

Conclusion.?In CDH, LHR and the presence of liver in the fetal thorax may be a useful predictive indicator of perinatal survival. Future usage of developing techniques needs careful evaluation prior to usage to guide therapy.     

Priorities in Prenatal Education

In the provision of prenatal care it is essential that information be shared with pregnant women in an appropriate and effective fashion. Nurse-practitioners and nurse-midwives providing care to women in clinics or offices are concerned with providing relevant instruction in the context of a busy practice or crowded clinic. A priority of information-sharing is proposed in order that the practitioner might capitalize on short encounters with prenatal patients. With the knowledge of what information might be appropriate for a woman at a certain point during her pregnancy, the nurse can plan to incorporate specific instructions as she assesses the woman's needs during a prenatal visit and reflect on the priority of information needed along with the realities of time available.